| Identification of the first <scp>promoter‐specific gain‐of‐function <i>SOX9</i></scp> missense variant (p.<scp>E50K</scp>) in a patient with 46,<scp>XX</scp> ovotesticular disorder of sex development |
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| Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders |
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| Disorder of sex development associated with a novel homozygous nonsense mutation in <scp><i>COG6</i></scp> expands the phenotypic spectrum of <scp>COG6‐CDG</scp> |
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| Insufficient development of vessels and alveoli in lungs of infants with trisomy 18—Features of pulmonary histopathological findings from lung biopsy |
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| Epilepsy and electroencephalogram evolution in <scp><i>YWHAG</i></scp> gene mutation: A new phenotype and review of the literature |
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| Ayme gripp syndrome in an Indian patient |
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| Congenital heart defects in molecularly confirmed <scp>KBG</scp> syndrome patients |
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| A de novo <scp><i>ACTB</i></scp> gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia |
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| The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the <scp><i>ALG14</i></scp> pathogenic variant |
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| Efficacy of virtual and asynchronous teaching of c<scp>omputer‐assisted</scp> diagnosis of genetic diseases seen in clinics |
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| Corrigendum Presacral Neuroendocrine Tumors Associated with the Currarino Syndrome. Am J Med Genet A. 2021;185(5):1582–1588. Doi:10.1002/ajmg.a.62145 |
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| Craniosynostosis is a feature of Costello syndrome |
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| Corrigendum The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort. Am J Med Genet A. 2021;185(12):3793–3803. Doi:10.1002/ajmg.a.62452 |
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| Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals |
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| Corrigendum Parental mosaicism in de novo neurodevelopmental diseases. Am J Med Genet A. 2021;<scp>185A</scp>(7):2119–2125. Doi:10.1002/ajmg.a.62174 |
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| Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.35341 |
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| <scp>Kohlschütter–Tönz</scp> syndrome: Case report with novel feature and detailed review of features associated with <scp><i>ROGDI</i></scp> variants |
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| Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in <scp><i>FLVCR1</i></scp> |
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| Truncating and zinc‐finger variants in <scp><i>GLI2</i></scp> are associated with hypopituitarism |
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| A homozygous missense variant in the <i>MLC1</i> gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function |
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| Publication schedule for 2022 |
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| Cover Image, Volume 188A, Number 1, January 2022 |
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| Use of the Vineland‐3, a measure of adaptive functioning, in <scp>CLN3</scp> |
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| Table of Contents, Volume 188A, Number 1, January 2022 |
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| ACMG Updates Guidance on Carrier Screening |
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| Identifying Digenic Disease Genes with Machine Learning |
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| In This Issue |
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| A novel missense variant of <scp><i>SCN4A</i></scp> co‐segregates with congenital essential tremor in a consanguineous Kurdish family |
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✓ |
✓ |
Kurdish |
| Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4‐year follow‐up study |
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| <scp>Zimmermann–Laband</scp> syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel <scp><i>KCNN3</i></scp> gene variant |
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| Prenatal diagnosis of a likely pathogenic variant in <i>ZBTB18</i>: Natural evolution of fetal phenotype including the long bones and corpus callosum |
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| An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective |
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| Identification and validation of a novel pathogenic variant in <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations |
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| Rare presentation of <scp><i>FDX2</i>‐related</scp> disorder and untargeted global metabolomics findings |
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| Further delineation of phenotypic spectrum of <scp><i>SCN2A</i></scp>‐related disorder |
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| Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in <scp><i>PACS2</i></scp> |
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| Tibia hemimelia in a patient with <scp>CHARGE</scp> syndrome: A rare but recurrent phenomenon |
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| Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome |
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| A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type <scp>VI</scp> in a male infant: Case report and literature review |
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| 8p23.1 <scp>deletion</scp>: <scp>Look out for left ventricular hypertrabeculation and not only congenital heart diseases</scp>. <scp>Single</scp>‐<scp>center experience and literature revision</scp> |
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| Giant axonal neuropathy (<scp>GAN</scp>) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in <scp><i>GAN</i></scp> gene |
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| High‐level mosaic monosomy 21 in a 13‐year‐old girl: Case report and review of the literature |
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| Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort |
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| Improving survival in patients with trisomy 18 |
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| Further supporting <scp><i>SMARCC2</i></scp>‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients |
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| Biallelic <i>TERT</i> variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings |
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| The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome |
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| Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020 |
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| A mutation in the neonatal isoform of <i>SCN2A</i> causes neonatal‐onset epilepsy |
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| <i>Ectodysplasin</i> pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India |
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| Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis |
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| A homozygous <i>CAP2</i> pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods |
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| Intracranial venous malformation masquerading as a meningioma in <i>PI3KCA</i>‐related overgrowth spectrum disorder |
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| An <scp><i>ACVR1</i><sup><i>R375P</i></sup></scp> pathogenic variant in two families with mild fibrodysplasia ossificans progressiva |
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| <i>N</i>‐Acetylcysteine provides limited efficacy as treatment option for skin picking in <scp>Prader–Willi</scp> syndrome |
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| Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome |
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| 22q11.2 duplications: Expanding the clinical presentation |
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| Expanded phenotype of primary ciliary dyskinesia related to <scp><i>DRC1</i></scp> pathogenic variant with dysmorphisms and vascular anomalies |
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| Report of two children with global developmental delay in association with de novo <scp><i>TLK2</i></scp> variant and literature review |
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| Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria |
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| Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome |
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| An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel <scp><i>BICD2</i></scp> phenotype? |
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| Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses |
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| <i>First</i> case report of Penttinen syndrome from India |
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| Sanfilippo syndrome type B: Analysis of patients diagnosed by the <scp>MPS</scp> Brazil Network |
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| Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in <scp><i>NDUFAF5</i></scp> and review of the natural history of <scp><i>NDUFAF5</i></scp>‐related disorders |
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✓ |
✓ |
African American |
| De novo <scp><i>PBX1</i></scp> variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the <scp>CAKUTHED</scp> phenotype |
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| Extending the phenotype of <scp>DeSanto‐Shinawi</scp> syndrome: A case report and literature review |
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| Dominant and recessive <scp><i>SLC12A2</i></scp>‐syndrome |
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| Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums |
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| Publication schedule for 2021 |
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| Cover Image, Volume 185A, Number 12, December 2021 |
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| Long‐Read Sequencing Could Increase Diagnosis Rates |
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| The Road to Greater Diversity in the Genomics Workforce |
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| Table of Contents, Volume 185A, Number 12, December 2021 |
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| In This Issue |
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| Distinguishing severe phenotypes associated with pathogenic variants in <i>POLR3A</i> |
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| Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study |
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| Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia |
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✓ |
✓ |
Polish |
| The transition to independence and adult care for women with Turner syndrome: Current status and priorities of 1338 women and parents |
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| <scp><i>PHIP</i></scp> gene variants with protein modeling, interactions, and clinical phenotypes |
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| A severe case of Bosch–<scp>Boonstra–Schaaf</scp> optic atrophy syndrome with a novel description of coloboma and septo‐optic dysplasia, owing to a start codon variant in the <scp><i>NR2F1</i></scp> g |
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| Expanding the phenotypic and allelic spectrum of <scp><i>SMG8</i></scp>: Clinical observations reveal overlap with <i><scp>SMG9</scp>‐</i>associated disease trait |
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| Corrigendum Re: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Am J Med Genet A. 2021;185A(6):1649–1665. Doi:10.1002/ajmg.a.621 |
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| Psychological predictors of advanced cancer patients’ preferences for return of results from comprehensive tumor genomic profiling |
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| A novel <scp><i>DLL4</i></scp> mutation in <scp>Adams–Oliver</scp> syndrome with absence of the right pulmonary artery in newborn |
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✓ |
✓ |
Thai |
| Identification and functional study of <scp><i>FOXC1</i></scp> variants in Chinese families with glaucoma |
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| A new case of <scp>Turnpenny‐Fry</scp> syndrome |
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| Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients |
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✓ |
✓ |
Indian ethnicity |
| Clinical features of a male with a <scp><i>USP9X</i></scp> variant associated with intellectual disability: A case study and review of reported cases |
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| Adolescents and young adults with neurofibromatosis type 1: A descriptive study of adaptive functioning |
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| Pulmonary vascular resistance and compliance in individuals with trisomy 18 |
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| N‐methyl‐d‐aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants |
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| Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18 |
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| A disease‐causing variant in <scp><i>HNRNPH2</i></scp> inherited from an unaffected mother with skewed X‐inactivation |
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| <scp><i>PUS3</i></scp>‐related disorder: Report of a novel patient and delineation of the phenotypic spectrum |
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| <scp>Cardiovascular findings in Williams–Beuren Syndrome</scp>: Experience of a single center with 127 cases |
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| Expanding the genetic and phenotypic spectrum of <scp><i>CHD2</i></scp>‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy |
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| A recurrent rare intronic variant in <scp><i>CAPN3</i></scp> alters <scp>mRNA</scp> splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees |
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✓ |
✓ |
Pakistani origin |
| Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000–2011 |
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| Variable clinical severity in <scp>TANGO2</scp> deficiency: Case series and literature review |
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| The <scp><i>RRAS2</i></scp> pathogenic variant p.<scp>Q72L</scp> produces severe Noonan syndrome with hydrocephalus: A case report |
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| Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review |
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| Aortic root dilatation and dilated cardiomyopathy in an adult with <scp>Tatton‐Brown‐Rahman</scp> syndrome |
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| The novel and recurrent variants in exon 31 of <scp><i>CREBBP</i></scp> in Japanese patients with <scp>Menke–Hennekam</scp> syndrome |
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✓ |
✓ |
Japanese |
| An <i>LMNA</i> synonymous variant associated with severe dilated cardiomyopathy: Case report |
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| Publication schedule for 2021 |
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| In This Issue |
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| Heritable disorders of oxygen sensing |
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| A novel <scp><i>MBTPS2</i></scp> variant associated with <scp>BRESHECK</scp> syndrome impairs <scp>sterol‐regulated</scp> transcription and the endoplasmic reticulum stress response |
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| Cover Image, Volume 185A, Number 11, November 2021 |
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| Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype |
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| A Promising Option for ADA‐SCID Patients |
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| ACMG Releases Guidelines for Exome and Genome Sequencing for Pediatric Patients |
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| Table of Contents, Volume 185A, Number 11, November 2021 |
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| Rare neurological manifestations in a Saudi Arabian patient with <scp>Ehlers–Danlos</scp> syndrome and a novel homozygous variant in the <scp><i>TNXB</i></scp> gene |
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| Functioning and well‐being in older children and adolescents with achondroplasia: A qualitative study |
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| Can artificial intelligence save medical genetics? |
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| Genomic basis of syndromic short stature in an Algerian patient cohort |
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| Isolated cytokine‐enriched pericardial effusion: A likely key feature for <scp>Aymé‐Gripp</scp> syndrome |
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| Causes of death in patients with Down syndrome in 2014–2016: A population study in Japan |
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| D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia |
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| <scp><i>INTU</i></scp>‐related oral‐facial‐digital syndrome <scp>XVII</scp>: Clinical spectrum of a rare disorder |
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| A patient with compound heterozygosity of <scp><i>SMPD4</i></scp>: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders |
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✓ |
✓ |
Japanese |
| Novel <scp><i>DIP2C</i></scp> gene splicing variant in an individual with focal infantile epilepsy |
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| Vanishing basal ganglia in <scp><i>ATP1A3</i></scp>‐related polymicrogyria |
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| A homozygous <scp><i>GRIN1</i></scp> null variant causes a more severe phenotype of early infantile epileptic encephalopathy |
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| Clinical manifestations of patients with <scp><i>GDF2</i></scp> mutations associated with hereditary hemorrhagic telangiectasia type 5 |
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| A novel homozygous synonymous variant further expands the phenotypic spectrum of <i><scp>POLR3A</scp>‐</i>related pathologies |
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| Expanding on the phenotypic spectrum of<scp>Woodhouse‐Sakati</scp>syndrome due to founder pathogenic variant in<scp><i>DCAF17</i></scp>: Report of 58 additional patients from Qatar and literature revi |
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| Extending the clinical phenotype of <scp><i>SPTAN1</i></scp>: From <scp>DEE5</scp> to migraine, epilepsy, and subependymal heterotopias without intellectual disability |
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| Bi‐allelic <scp><i>PAGR1</i></scp> variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families |
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✓ |
✓ |
Ashkenazi Jewish families |
| Three decades of the Human Genome Organization |
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| A monoallelic<scp><i>SEC23A</i></scp>variant<scp>E599K</scp>associated with<scp>cranio‐lenticulo‐sutural</scp>dysplasia |
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| <scp><i>CTNNB1</i></scp>‐related neurodevelopmental disorder in a Chinese population: A case series |
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| Correspondence on “Disorder of sex development associated with a novel homozygous nonsense mutation in <scp><i>COG6</i></scp> expands the phenotypic spectrum of <scp><i>COG6</i>‐CDG</scp>” |
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| Parental perceptions of genetic testing for children with autism spectrum disorders |
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| <scp><i>NDE1</i></scp>‐related disorders: A recurrent <scp><i>NDE1</i></scp> pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly |
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| Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with <scp><i>KRIT1</i></scp>‐related disease |
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| Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in <scp><i>MAP3K7</i></scp> |
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✓ |
✓ |
Asian |
| Review of 37 patients with <scp><i>SOX2</i></scp> pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and <scp>DNA</scp> research study |
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| A nonsense variant in the second exon of the canonical transcript of <scp><i>NSD1</i></scp> does not cause Sotos syndrome |
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| Genomic analysis of “microphenotypes” in epilepsy |
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| A homozygous <scp><i>ROR2</i></scp> variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods |
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| Robin sequence without cleft palate: Genetic diagnoses and management implications |
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| <scp><i>GGCX</i></scp>‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata |
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| Robinow syndrome in an extremely preterm infant: Novel homozygous <scp><i>ROR2</i></scp> variant detected by rapid exome sequencing |
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| Novel hemizygous loss‐of‐function variant in <scp><i>NONO</i></scp> identified in a South African boy |
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| Impact of the coronavirus pandemic on mental health and health care in adults with neurofibromatosis: Patient perspectives from an online survey |
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| Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis |
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| Paternal retraction of a fragile X allele to normal size, showing normal function over two generations |
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| Digital vascular lesions detected by transillumination |
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| Heterozygous Missense Variant in <scp><i>EIF6</i></scp> gene: a novel form of <scp>Shwachman‐Diamond</scp> Syndrome? |
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| Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania |
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| Manifestation of epilepsy in a patient with <scp><i>EED</i></scp>‐related overgrowth (<scp>Cohen–Gibson</scp> syndrome) |
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| A phenotypic expansion of <scp><i>TRNT1</i></scp> associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay |
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| A <i>de novo</i><scp><i>CSDE1</i></scp> variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents |
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✓ |
✓ |
Turkish origin |
| A truncating <scp><i>NRIP1</i></scp> variant in an Arabic family with congenital anomalies of the kidneys and urinary tract |
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✓ |
✓ |
Arabic family |
| Optogenetics Shows Promise in Landmark Study |
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| Cover Image, Volume 185A, Number 10, October 2021 |
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| Publication schedule for 2021 |
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| Genetic and phenotypic heterogeneity in <scp>KIAA0753</scp>‐related ciliopathies |
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| Table of Contents, Volume 185A, Number 10, October 2021 |
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| In This Issue |
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| Tabula Sapiens: An Atlas of Single‐Cell Gene Expression |
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| The rate of secondary genomic findings in the Saudi population |
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| Heterozygous variants in <scp><i>ZBTB7A</i></scp> cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin |
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| Victor <scp>McKusick</scp> and his role in the founding of the European School of Genetic Medicine |
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| Gain in growth after surgical repair of congenital heart disease among children with Down syndrome |
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| Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study |
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| Identification of a novel <scp><i>TBX5</i></scp> c.755 + 1 G > A variant and related pathogenesis in a family with <scp>Holt–Oram</scp> syndrome |
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| Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries |
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| Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2 deletion syndrome: A cross‐sectional survey in Japan |
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| The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice |
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| Expanding the phenotype: Four new cases and hope for treatment in <scp>Bachmann‐Bupp</scp> syndrome |
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| <scp><i>PIEZO1</i></scp>‐gene gain‐of‐function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings |
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| Current state of the art in treatment of Mendelian disease: Skeletal dysplasias |
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| Congenital heart defects and copy number variants associated with neurodevelopmental impairment |
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| Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a <scp><i>NOG</i></scp> nonsense mutation |
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| The youngest pair of siblings with Mucopolysaccharidosis type <scp>IVA</scp> to receive enzyme replacement therapy to date: A case report |
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| The first <scp>post‐natal</scp> clinical description of true mosaic complete tetrasomy 21: A case report |
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| Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam |
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| A novel pathogenic variant p.<scp>Asp797Val</scp> in <scp><i>IFIH1</i></scp> in a Japanese boy with overlapping <scp>Singleton‐Merten</scp> syndrome and <scp>Aicardi‐Goutières</scp> syndrome |
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| The burden of pathogenic variants in clinically actionable genes in a founder population |
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✓ |
✓ |
Amish; Old Order Amish; founder population |
| A novel microdeletion upstream of <scp><i>HOXD13</i></scp> in a Chinese family with synpolydactyly |
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| A novel homozygous mutation in the human <scp><i>ALG12</i></scp> gene results in an aberrant profile of oligomannose N‐glycans in patient's serum |
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✓ |
✓ |
Slovak |
| Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐<scp>B</scp> receptor (<scp>LBR</scp>)‐related regressive spondylometaphyseal dysplasia |
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| Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy |
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| Victor Almon <scp>McKusick</scp>: In the footsteps of Mendel and Osler |
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| A recurrent de novo variant supports <scp><i>KCNC2</i></scp> involvement in the pathogenesis of developmental and epileptic encephalopathy |
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| Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp> |
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| Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry |
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✓ |
✓ |
✓ |
shared European and American origins of RDEB mutations; European origins; Hispanic populations; Sephardic ancestry; American origins |
| Deep intronic variant in the <scp><i>ARSB</i></scp> gene as the genetic cause for Maroteaux–Lamy syndrome (<scp>MPS VI</scp>) |
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✓ |
✓ |
Bedouin origin |
| Toward precision medicine in vascular connective tissue disorders |
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| Magnitude of Mendelian versus complex inheritance of rare disorders |
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| Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous <scp><i>PTEN</i></scp> mutations |
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| The phenotypic spectrum of <scp><i>AMER1</i></scp>‐related osteopathia striata with cranial sclerosis: The first Canadian cohort |
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| Survival outcomes of very low birth weight infants with trisomy 18 |
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| Novel cases of pediatric sudden cardiac death secondary to <scp><i>TRDN</i></scp> mutations presenting as long <scp>QT</scp> syndrome at rest and catecholaminergic polymorphic ventricular tachycardia |
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✓ |
✓ |
Iranian population |
| The experiences and support needs of siblings of people with mucopolysaccharidosis |
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| Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome |
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| Whole genome sequencing identifies pathogenic <scp><i>RNU4ATAC</i></scp> variants in a child with recurrent encephalitis, microcephaly, and normal stature |
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| Clan genomics: From <scp>OMIM</scp> phenotypic traits to genes and biology |
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| Victor McKusick and his short course |
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| Biallelic <i>ITGB4</i> variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings |
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| Cover Image, Volume 185A, Number 9, September 2021 |
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| Table of Contents, Volume 185A, Number 9, September 2021 |
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| Publication schedule for 2021 |
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| Age at and indication for diagnosis of Turner syndrome in the pediatric population |
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| Neuroimaging in Kabuki syndrome and another <scp><i>KMT2D</i></scp>‐related disorder |
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| Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation |
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| Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children |
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| Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes |
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| Expanding the <scp><i>KIF4A</i></scp>‐associated phenotype |
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| Auditory and olfactory findings in patients with <scp><i>USH2A</i></scp>‐related retinal degeneration—Findings at baseline from the rate of progression in <scp><i>USH2A</i></scp>‐related retinal degen |
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| Dysautonomia in hypermobile <scp>Ehlers–Danlos</scp> syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy |
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| <scp>ZTTK</scp> syndrome: Clinical and molecular findings of 15 cases and a review of the literature |
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| Exome survey of individuals affected by <scp>VATER</scp>/<scp>VACTERL</scp> with renal phenotypes identifies phenocopies and novel candidate genes |
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| Festschrift for Victor A. <scp>McKusick</scp> on the Centenary of his Birth: Introduction |
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| <scp><i>PLXNA2</i></scp> as a candidate gene in patients with intellectual disability |
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| Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort study |
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| A novel likely pathogenic heterozygous <scp><i>HECW2</i></scp> missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform <scp>EEG</scp> patterns |
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| Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways |
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| Autophagic defects observed in fibroblasts from a patient with β‐propeller protein‐associated neurodegeneration |
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| 5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome |
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| Four hypotrichosis families with mutations in the gene <scp><i>LSS</i></scp> presenting with and without neurodevelopmental phenotypes |
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| Memories of Victor A. <scp>McKusick</scp> |
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| The recurrent p.(<scp>Pro540Ser</scp>) <scp><i>MEN1</i></scp> genetic variant should be considered nonpathogenic: A case report |
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| Homozygous <scp><i>GLI3</i></scp> variants observed in three unrelated patients presenting with syndromic polydactyly |
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| Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study |
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| Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence |
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| Facial recognition accuracy in photographs of Thai neonates with Down syndrome among physicians and the <scp>Face2Gene</scp> application |
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| Exon skip‐inducing variants in <scp><i>FLNA</i></scp> in an attenuated form of frontometaphyseal dysplasia |
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| Detailed clinical and radiological features of the first patient with <scp>Elsahy–Waters</scp> syndrome in East Asia |
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| Targeted therapy with galantamine in a pediatric patient with 15q13.3 deletion syndrome |
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| Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel <scp><i>FLNA</i></scp> variant |
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| Bronchial angiofibroma in tuberous sclerosis complex: A case report and literature review |
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| Somatic <scp><i>KRAS</i></scp> mutation affecting codon 146 in linear sebaceous nevus syndrome |
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| Corrigendum to “<scp><i>HECW2</i></scp>‐related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363” |
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| A celebration in honor of John M. Graham, Jr, <scp>MD</scp>, <scp>ScD</scp> |
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| Juvenile xanthogranuloma: A possible diagnostic criterion for Neurofibromatosis type 1 in young children |
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| Promising Results with Ex Vivo Lentiviral HSPC Gene Therapy in ADA‐SCID |
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| Cover Image, Volume 185A, Number 8, August 2021 |
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| Table of Contents, Volume 185A, Number 8, August 2021 |
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| Publication schedule for 2021 |
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| Geneticist Workforce Faces Critical Shortage |
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| Early developmental impact of sex chromosome trisomies on attention <scp>deficit‐hyperactivity</scp> disorder symptomology in young children |
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| In This Issue |
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| Second instance of co‐occurring 22q11.2 deletion syndrome and Williams syndrome |
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| <scp><i>EPHB4</i></scp> mutation causes adult and adolescent‐onset primary lymphedema |
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| Further heterogeneity in <scp>Silver–Russell</scp> syndrome: <scp><i>PLAG1</i></scp> deletion in association with a complex chromosomal rearrangement |
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| Samia Temtamy |
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| Delivering a new diagnosis of Down syndrome: Parent experience |
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| Functional analysis of novel genetic variants of <i><scp>NKX2</scp>‐5</i> associated with nonsyndromic congenital heart disease |
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| Central 22q11.2 deletion (<scp>LCR22 B‐D</scp>) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of <scp><i>CRKL</i></scp> haploi |
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| The genes of <scp>OMIM</scp>: A legacy of Victor <scp>McKusick</scp> |
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| <scp>Singleton‐Merten</scp> syndrome: A rare cause of femoral head necrosis |
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| Severe diarrhea in a 10‐year‐old girl with <scp>Aicardi–Goutières</scp> syndrome due to <scp><i>IFIH1</i></scp> gene mutation |
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| Personal utility of genomic sequencing for infants with congenital deafness |
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| Comprehensive investigation of the phenotype of <scp><i>MEF2C</i>‐related</scp> disorders in human patients: A systematic review |
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| Expanding the clinical phenotype of <scp>RASopathies</scp> in 38 Turkish patients, including the rare <scp><i>LZTR1</i></scp>, <scp><i>RAF1</i></scp>, <scp><i>RIT1</i></scp> variants, and large deleti |
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| The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned |
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| Online Mendelian Inheritance in Man (<scp>OMIM</scp>®): Victor <scp>McKusick</scp>'s magnum opus |
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| In Memoriam: “Holstein cows in Holstein.” Victor A. <scp>McKusick</scp>: 40 years of remembrance from Europe |
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| Health care transition for individuals with Down syndrome: A needs assessment |
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| Milestones in treatments for inborn errors of metabolism: Reflections on <scp><i>Where chemistry and medicine meet</i></scp> |
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| Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges |
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| Broadening the phenotypic spectrum of <scp>Beta3GalT6</scp>‐associated phenotypes |
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| Hoarse voice in children as the presenting feature of <scp><i>ECM1</i></scp>‐related lipoid proteinosis |
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| Expansion of the clinical phenotype of <scp>GALE</scp> deficiency |
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| Nonlethal presentations of <scp>CYP26B1</scp>‐related skeletal anomalies and multiple synostoses syndrome |
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| Viewing Victor<scp>McKusick'</scp>s legacy through the lens of his bibliography |
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| History of the methodology of disease gene identification |
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| Anticipating the ethical, legal, and social implications of human genome research: An ongoing experiment |
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| L‐carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial |
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| Physical therapy treatment of hypermobile Ehlers–Danlos syndrome: A systematic review |
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| Homozygous <scp><i>WNT9B</i></scp> variants in two families with bilateral renal agenesis/hypoplasia/dysplasia |
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| A novel truncating variant in the <scp><i>FGD1</i></scp> gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly |
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| Corrigendum Re: “Persistence of müllerian duct structures in a genetic male with distal monosomy 10q. Am J Med Genet A. 2015 Apr;<scp>167A</scp>(4):791–6. Doi:10.1002/ajmg.a.37014” |
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| Hepatocellular carcinoma as a complication of Niemann‐Pick disease type <scp>C1</scp> |
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| Wolfram Syndrome: Cracking the Code to Better Therapies |
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| Genomic Analysis Reveals Cancer–Like Mutagenesis in Placental Tissues |
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| In This Issue |
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| Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes |
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✓ |
✓ |
Dominican ancestry |
| Table of Contents, Volume 185A, Number 7, July 2021 |
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| Publication schedule for 2021 |
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| Cover Image, Volume 185A, Number 7, July 2021 |
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| Application of the <scp>ACMG</scp>/<scp>NSGC</scp> genetic referral guidelines for hereditary renal cell carcinoma at the University of Miami, from 2014 to 2017 |
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✓ |
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| <scp><i>PHKA2</i></scp> variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only |
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| Never quit on hills: John M. Graham, Jr. <scp>MD</scp>, <scp>ScD,</scp> as mentor |
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| Mosaic <scp>RASopathy</scp> due to <scp><i>KRAS</i></scp> variant <scp>G12D</scp> with segmental overgrowth and associated peripheral vascular malformations |
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| Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy |
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| Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic <scp><i>HMBS</i></scp> mutations |
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| Spondyloepimetaphyseal dysplasia <scp>EXTL3‐deficient</scp> type: Long‐term <scp>follow‐up</scp> and review of the literature |
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| Risk of sudden cardiac death in <scp><i>EXOSC5</i></scp>‐related disease |
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| Possible underreporting of pathogenic variants in <scp><i>RAI1</i></scp> causing <scp>Smith–Magenis</scp> syndrome |
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| Caregiver‐reported characteristics of children diagnosed with pathogenic variants in <scp><i>KDM5C</i></scp> |
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| Medical genetics training in the <scp>COVID</scp>‐19 era: A resident's perspective |
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| Proximal variants in <scp><i>CCND2</i></scp> associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes |
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| Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous <scp><i>MRAS</i></scp> variant |
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| Whole genome sequencing identifies a cryptic <scp><i>SOX9</i></scp> regulatory element duplication underlying a case of 46,<scp>XX</scp> ovotesticular difference of sexual development |
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| A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature |
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| Recurrent <scp><i>KCNT2</i></scp> missense variants affecting p.Arg190 result in a recognizable phenotype |
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| Temporal trends and yield of clinical diagnostic genetic testing in adult neurology |
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| The evolution of genetic counseling at Johns Hopkins Hospital and beyond |
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| Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region |
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✓ |
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predominantly European parental ancestry; European paternal haplogroups R1a, R1b; 'Paternal ancestry |
| Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent <scp>NAA10</scp> variant and review of the literature |
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| Behavioral and cognitive functioning in individuals with Cantú syndrome |
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| Novel findings and expansion of phenotype in a mosaic <scp>RASopathy</scp> caused by somatic <scp><i>KRAS</i></scp> variants |
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| Pneumonia and respiratory infection in Down syndrome: A 10‐year cohort analysis of inpatient and outpatient encounters across the lifespan |
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| Human cytogenetics at Johns Hopkins Hospital, 1959–1962 |
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| Clinical spectrum of individuals with de novo <scp><i>EBF3</i></scp> variants or deletions |
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| Syndromic neurodevelopmental disorder associated with de novo variants in <scp><i>DDX23</i></scp> |
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| Respiratory and otolaryngological disorders in Down syndrome from one center in Brazil |
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| <scp>PAMI</scp> syndrome: A rare cause that can be easily misdiagnosed |
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| <scp><i>HECW2</i></scp>‐related disorder in four Japanese patients |
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✓ |
✓ |
Japanese |
| Delineating the <scp>Smith‐Kingsmore</scp> syndrome phenotype: Investigation of 16 patients with the <scp><i>MTOR</i></scp> c.<scp>5395G</scp> > A p.(<scp>Glu1799Lys</scp>) missense variant |
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| Elevated <scp>holo‐</scp>transcobalamin in Gaucher disease type <scp>II</scp>: A case report |
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| Juvenile xanthogranuloma in Noonan syndrome |
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| Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith–Wiedemann syndrome |
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| An intrafamilial phenotypic variability in <scp>Ellis‐Van</scp> Creveld syndrome due to a novel 27 bps deletion mutation |
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| Expanding the clinical spectrum in trichohepatoenteric syndrome |
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| Expanding the genotypic spectrum of <scp><i>PYCR2</i></scp> and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10 |
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| <scp><i>TSPEAR</i></scp> variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study |
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| New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing |
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| Blended phenotype of combination of <scp><i>HERC2</i></scp> and <scp><i>AP3B2</i></scp> deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15 |
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| Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings |
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| <scp><i>CNOT2</i></scp> haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures |
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| An approach to rapid characterization of <scp><i>DMD</i></scp> copy number variants for prenatal risk assessment |
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| Novel deep intronic and frameshift mutations causing a <scp><i>TRIP11</i></scp>‐related disorder |
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| The contributions of careful clinical observations: A legacy |
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| <scp>COXPD9</scp> in an individual from Puerto Rico and literature review |
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| Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the <scp><i>FOLR1</i></scp |
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| Postoperative helmet therapy following fronto‐orbital advancement and cranial vault remodeling in patients with unilateral coronal synostosis |
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| Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders |
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| The delineation of the <scp>Wolf‐Hirschhorn</scp> syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology |
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| Simpson‐Golabi‐Behmel syndrome: One family, same mutation, different outcome |
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| De novo variants in <scp><i>TCF7L2</i></scp> are associated with a syndromic neurodevelopmental disorder |
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| A case of migraine treatment in a patient with a clinical diagnosis of <scp>CHARGE</scp> syndrome using onabotulinum toxin A |
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| Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in <scp><i>C1QBP</i></scp> |
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| Genomic profiling in neuronal dyneinopathies and updated classifications |
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| Cover Image, Volume 185A, Number 6, June 2021 |
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| Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses |
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| Symptomatic mosaicism for a novel <scp><i>FBN1</i></scp> splice site variant in a parent causing inherited neonatal Marfan syndrome |
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| New Framework Developed for Polygenic Risk Score Reporting |
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| Table of Contents, Volume 185A, Number 6, June 2021 |
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| Conference Attendees Give Thumbs up to Virtual Meetings |
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| Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey |
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| Publication schedule for 2021 |
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| A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case |
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| In This Issue |
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| Heritable disorders of oxygen sensing |
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| <scp>Nonclassic</scp> fibrodysplasia ossificans progressiva: A child from Angola with an <scp>ACVR1<sup>G328E</sup></scp> variant |
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| Recurrent <scp><i>NFIA</i> K125E</scp> substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles |
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| Two novel bi‐allelic <scp><i>KDELR2</i></scp> missense variants cause osteogenesis imperfecta with neurodevelopmental features |
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| The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings |
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| Positive response to imatinib in <scp><i>PDGFRB</i></scp>‐related Kosaki overgrowth syndrome |
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| Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines |
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| <scp><i>SATB2</i>‐associated</scp> syndrome in adolescents and adults |
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| Cardiac abnormalities in girls with Turner syndrome: <scp>ECG</scp> abnormalities, myocardial strain imaging, and karyotype–phenotype associations |
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| Next‐generation sequencing and the evolution of data sharing |
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| Evaluation of sleep‐disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type <scp>IVA</scp> and <scp>VI</scp> |
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| Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features |
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| A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in <scp><i>RNF213</i></scp> |
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| Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype |
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| Death rates in the U.S. due to Leukodystrophies with pediatric forms |
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| Lower birth weight in newborns with trisomy 18 and esophageal atresia |
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| Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome |
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| Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: Why Maisels was correct |
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| Reflections on the history of genetic medicine at Johns Hopkins University |
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| From cataract to syndrome diagnosis: Revaluation of <scp>Warburg‐Micro</scp> syndrome <scp>Type</scp> 1 patients |
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| Fifty years of recognizable patterns of human malformation: Insights and opportunities |
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| <scp>Natural history study of adults with Wolf–Hirschhorn syndrome</scp> 2: Patient‐reported outcomes study |
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| A novel de novo intronic variant in <scp><i>ITPR1</i></scp> causes Gillespie syndrome |
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| Novel <scp><i>GUCY2C</i></scp> variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach |
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✓ |
✓ |
Mennonite |
| Genotype–phenotype correlation in <scp>Phelan‐McDermid</scp> syndrome: A comprehensive review of chromosome 22q13 deleted genes |
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| Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case |
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| Natural history of alpha‐thalassemia X‐linked intellectual disability syndrome: A case report of a 45‐year‐old man |
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| Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India |
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| Biallelic <scp><i>ASCC1</i></scp> variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (<scp>SMABF2</scp>) |
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| A de novo missense variant in <scp><i>MED13</i></scp> in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly |
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| The Dysmorphology Unit from 1976 to 1980: Fleeting fellow, deformations, and John Graham |
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| Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of <scp>CEP83</scp> deficiency |
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| Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology |
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| Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations |
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| Sleep‐disordered breathing and its management in children with rare skeletal dysplasias |
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| Two females with distinct de novo missense pathogenic variants in <scp><i>MED12</i></scp> and vastly differing phenotypes |
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| Identification of a novel pathogenic variant in <scp><i>CKAP2L</i></scp> and literature review in a child with Filippi syndrome and congenital talipes equinovarus |
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| Thinking outside “The Box”: <scp>Case‐based</scp> didactics for medical education and the instructional legacy of Dr John M. Graham, Jr |
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| Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects |
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| Characterization of sleep habits of children with Sotos syndrome |
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| Co‐occurring non‐omphalocele and non‐gastroschisis anomalies among cases with congenital omphalocele and gastroschisis |
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| Heterozygous missense variant in <scp><i>TRPC6</i></scp> in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis |
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| Novel <scp><i>MYT1</i></scp> variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanisms |
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| A journey towards answers: Bonnie Odgers Meets Dr. John Graham |
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| Marfan syndrome resulting from a rare pathogenic <scp><i>FBN1</i></scp> variant, ascertained through a proband with <scp>IgG4</scp>‐related arteriopathy |
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| Hospital care of patients with inherited cardiomyopathies in Germany during the Covid‐19 pandemic insights from the German‐wide Helios hospital network |
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| A lasting imprint |
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| Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review |
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| Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a <scp><i>SOX18</i></scp> de novo pathogenic variant and review of the phenotypic spectrum |
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| Heterozygous variants in <i>SPTBN1</i> cause intellectual disability and autism |
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| Parental mosaicism in de novo neurodevelopmental diseases |
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| To John M. Graham Jr, who called me into a career in clinical genetics |
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| Craniosynostosis is a feature of <scp><i>CHD7</i></scp>‐related <scp>CHARGE</scp> syndrome |
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| Resolution of sclerotic lesions of dysosteosclerosis due to biallelic <i>SLC29A3</i> variant in a Turkish girl |
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| Choose your words carefully |
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| Glutamine Linked to Cell Senescence and Aging |
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| In This Issue |
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| Hyperbaric oxygen management of recurrent cellulitis in poikiloderma with neutropenia |
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| Publication schedule for 2021 |
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| Table of Contents, Volume 185A, Number 5, May 2021 |
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| Identical Twins not as “Identical” as Previously Thought |
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| Cover Image, Volume 185A, Number 5, May 2021 |
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| Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders |
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| <i>SLC35F1</i> as a candidate gene for neurodevelopmental disorders resembling Rett syndrome |
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| <scp>Smith–Magenis</scp> syndrome: Report of morphological and new functional cardiac findings with review of the literature |
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| Feingold syndrome type 2 in a patient from China |
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✓ |
✓ |
Chinese population |
| A novel homozygous <scp><i>SLC13A5</i></scp> whole‐gene deletion generated by <scp><i>Alu/Alu</i></scp>‐mediated rearrangement in an Iraqi family with epileptic encephalopathy |
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✓ |
✓ |
Iraqi family; distinct population |
| Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome |
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✓ |
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| Further delineation of van den <scp>Ende‐Gupta</scp> syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome |
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| A novel <scp><i>EZH2</i></scp> gene variant in a case of Weaver syndrome with postaxial polydactyly |
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| Recurrent ganglioneuroma in <scp><i>PTPN11</i></scp>‐associated Noonan syndrome: A case report and literature review |
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| <scp>The mystery of monozygotic twinning II</scp>: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning? |
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| <scp><i>MASP1</i></scp>‐related <scp>3MC</scp> syndrome in a patient from Turkey |
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✓ |
✓ |
Kurdish origin |
| Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients |
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| Genotype and phenotype in 18 Chinese patients with <scp>Coffin‐Siris</scp> syndrome |
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✓ |
✓ |
Chinese; ethnicity-related effect (phrases: 'Chinese individuals', 'Chinese patients', 'ethnicity-re |
| Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an <scp>HHT</scp> Center of Excellence |
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| A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review |
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| <scp>The mystery of monozygotic twinning</scp> I: What can Amyoplasia tell us about monozygotic twinning and the possible role of <scp>twin–twin</scp> transfusion? |
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| Natural history study of adults with <scp>Wolf–Hirschhorn</scp> syndrome 1: Case series of personally observed 35 individuals |
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| <scp><i>MYH1</i></scp> is a candidate gene for recurrent rhabdomyolysis in humans |
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| Pathogenic variants in <scp><i>KCNQ2</i></scp> cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy |
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| Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development |
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| First prenatal case of <scp>Noonan</scp> syndrome with <scp><i>SOS2</i></scp> mutation: Implications of early diagnosis for genetic counseling |
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| Report of a novel variant in the <scp><i>FAM111A</i></scp> gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull |
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| Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report |
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| Hedgehog acyl‐transferase‐related multiple congenital anomalies: Report of an additional family and delineation of the syndrome |
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| Patterns of congenital anomalies among individuals with trisomy 13 in Texas |
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| Further expanding the mutational spectrum of <scp>brain abnormalities, neurodegeneration, and dysosteosclerosis</scp>: A rare disorder with neurologic regression and skeletal features |
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| <scp><i>R3HDM1</i></scp> haploinsufficiency is associated with mild intellectual disability |
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| Hemimegalencephaly and intractable seizures associated with the <i>NPRL3</i> gene variant in a newborn: A case report |
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| Parent‐reported histories of adults with trisomy 13 syndrome |
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| A case of <scp>Ververi‐Brady</scp> syndrome due to <scp><i>QRICH1</i></scp> loss of function and the literature review |
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| Specialty clinics for adults with Down syndrome: A clinic survey |
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| A novel <scp><i>MPLKIP</i></scp>‐variant in three Finnish patients with non‐photosensitive trichothiodystrophy type 4 |
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✓ |
✓ |
Finnish |
| Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course |
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| Reflections on a career in dysmorphology, teratology, and clinical genetics |
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| A novel homozygous <scp><i>RIPK4</i></scp> variant in a family with severe <scp>Bartsocas‐Papas</scp> syndrome |
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| California Continues to Support Stem Cell Research |
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| A New “Consensus Genome” Significantly Improves the Accuracy of RNA‐Seq Analyses |
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| Table of Contents, Volume 185A, Number 4, April 2021 |
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| Publication schedule for 2021 |
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| Cover Image, Volume 185A, Number 4, April 2021 |
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| In This Issue |
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| A novel microduplication in <scp><i>INPP5A</i></scp> segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder |
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| Genetic and metabolic investigations for individuals with neurodevelopmental disorders: A survey of Canadian geneticists' practices |
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| Surveillance guidelines for children with trisomy 13 |
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| The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in <i>GRIP1</i> |
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| A novel <scp><i>ALG14</i></scp> missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy |
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| Understanding the phenotypic spectrum of <scp><i>ASXL</i></scp>‐related disease: Ten cases and a review of the literature |
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| Clinical and genetic characterization of <scp><i>PYROXD1</i></scp>‐related myopathy patients from Turkey |
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✓ |
✓ |
Turkish; patients from Turkey; Turkish founder mutation; Turkish families |
| An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (<scp>Loucks‐Innes</scp> syndrome) |
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| Investigation of (epi)genotype causes and follow‐up manifestations in the patients with classical and atypical phenotype of<scp>Beckwith‐Wiedemann</scp>spectrum |
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| Management of <scp>COVID</scp>‐19 infection in organic acidemias |
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| Expanding the clinical phenotype of the ultra‐rare <scp>Skraban‐Deardorff</scp> syndrome: Two novel individuals with <scp><i>WDR26</i></scp> loss‐of‐function variants and a literature review |
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| Segmental overgrowth and aneurysms due to mosaic <scp><i>PDGFRB</i></scp> p.(<scp>Tyr562Cys</scp>) |
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| <scp>Aicardi‐Goutières</scp> syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy |
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| Congenital polyvalvular disease expands the cardiac phenotype of the <scp>RASopathies</scp> |
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| Living history biography: An afterthought |
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| Severe epileptic encephalopathy associated with compound heterozygosity of <scp>THG1L</scp> variants in the Ashkenazi Jewish population |
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✓ |
✓ |
Ashkenazi Jewish |
| Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20‐year period |
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| Deformations associated with arthrogryposis |
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| The society for craniofacial genetics and developmental biology 43rd annual meeting |
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| <scp>Birt‐Hogg‐Dubé</scp> symptoms in <scp>Smith‐Magenis</scp> syndrome include pediatric‐onset pneumothorax |
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| Partners in care |
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| Sleep and behavior in children and adolescents with tuberous sclerosis complex |
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| Presacral neuroendocrine tumors associated with the Currarino syndrome |
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| Establishing intellectual disability as the key feature of patients with biallelic <scp><i>RNPC3</i></scp> variants |
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| <scp>ELOVL4</scp> with erythrokeratoderma: A pediatric case and emerging genodermatosis |
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| Childhood prevalence of achondroplasia in New South Wales and the Australian Capital Territory, Australia |
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| Novel <scp><i>USP9X</i></scp> variant associated with syndromic intellectual disability in a female: A case study and review |
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| Novel unconventional variants expand the allelic spectrum of <scp><i>OPHN1</i></scp> gene |
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| Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics |
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| Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders <scp>Blok‐Fisher</scp> syndrome suggests the presence of a <scp><i>POU3F3</i></scp>‐related <scp>SNIBFIS</scp> endopheno |
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| 3137 fetuses in 33 years: What we have learned from the Wisconsin stillbirth service program |
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| Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus |
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| 14q32.11 microdeletion including <scp><i>CALM1</i></scp>, <scp><i>TTC7B</i></scp>, <scp><i>PSMC1</i></scp>, and <scp><i>RPS6KA5</i></scp>: A new potential cause of developmental and language delay in |
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| Whole genome sequencing of 45 Japanese patients with intellectual disability |
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✓ |
✓ |
Japanese |
| The phenotype of 15 cases with rare 8q24.13‐q24.3 deletions–A new syndrome or still an enigma? |
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| Fork‐shaped mandibular incisors as a novel phenotype of <scp>LRP5</scp>‐associated disorder |
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| X‐linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy |
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| Case report of adrenocortical carcinoma associated with double germline mutations in <scp><i>MSH2</i></scp> and <scp><i>RET</i></scp> |
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| Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype |
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| Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks |
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| Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low‐level mosaicism for trisomy 14 |
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| Further delineation of <scp><i>SMG9</i></scp>‐related heart and brain malformation syndrome |
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| Language in young females with fragile X syndrome: Influence on the neurocognitive profile and adaptive behavior |
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| Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas |
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| A founder mutation in <scp><i>TCTN2</i></scp> causes <scp>Meckel‐Gruber</scp> syndrome type 8 among Jews of Ethiopian and Yemenite origin |
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✓ |
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Jews of Ethiopian and Yemenite origin |
| Parent‐authored memoirs: Lessons in the practice of narrative medicine |
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| Maternal health and pregnancy outcome in diagnosed and undiagnosed Marfan syndrome: A registry‐based study |
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| A novel variant in <scp><i>YWHAG</i></scp> further supports phenotype of developmental and epileptic encephalopathy |
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| Twins with <scp>PEX7</scp> related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder <scp>9B</scp> |
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| A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation |
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| Germ cell mosaicism for <scp><i>AUTS2</i></scp> exon 6 deletion |
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| Clinical characterization of individuals with the distal 1q21.1 microdeletion |
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| Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood |
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✓ |
✓ |
Indian; Saudi Arabian |
| Manifestations of thrombospondin type‐1 domain‐containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis |
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| Gene Editing has Potential as Treatment for Progeria |
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| In This Issue |
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| Cover Image, Volume 185A, Number 3, March 2021 |
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| Table of Contents, Volume 185A, Number 3, March 2021 |
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| Florida Passes Genetic Non‐Discrimination Law |
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| Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in <scp><i>POLR3A</i></scp> |
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✓ |
✓ |
Indian |
| Publication schedule for 2021 |
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| Characterizing upper limb function in the context of activities of daily living in <scp>CLN3</scp> disease |
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| Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of <scp><i>SF3B4</i></scp>‐related disease |
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| A dihydrofolate reductase 2 (<i><scp>DHFR2</scp>)</i> variant is associated with risk of neural tube defects in an Irish cohort but not in a United Kingdom cohort |
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| A novel heterotaxy gene: Expansion of the phenotype of <scp><i>TTC21B</i>‐spectrum</scp> disease |
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| Expansion of the ophthalmic phenotype of <scp><i>SPINT2</i></scp>‐related syndromic congenital sodium diarrhea |
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| Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe <scp>BICD2</scp>‐opathy |
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| <scp>The point‐of‐care</scp> use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning |
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| Neurodevelopmental disorder in an Egyptian family with a biallelic <scp><i>ALKBH8</i></scp> variant |
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✓ |
✓ |
Egyptian descent; Saudi Arabian kindreds; distinct population |
| Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program |
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| Long‐term weight control in adults with <scp>Prader‐Willi</scp> syndrome living in residential hostels |
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| Auditory phenotype of <scp>Smith–Lemli–Opitz</scp> syndrome |
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| Ophthalmic phenotypes associated with biallelic loss‐of‐function <scp><i>PCDH12</i></scp> variants |
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| Surveillance guidelines for children with trisomy 18 |
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| Phenotypic expansion of the <scp><i>BPTF</i></scp>‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
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| Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion |
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| Common pathogenesis for sirenomelia, <scp>OEIS</scp> complex, <scp>limb‐body</scp> wall defect, and other malformations of caudal structures |
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| Variants in <scp><i>KIF2A</i></scp> cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malfor |
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| Genetic skin disorders: The value of a multidisciplinary clinic |
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| <scp>CLARITY</scp>: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus |
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| Clinical and molecular characterization of four patients with Robinow syndrome from different families |
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✓ |
✓ |
Indian families |
| Circulating free <scp>DNA</scp> in the plasma of individuals with neurofibromatosis type 1 |
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| Noonan syndrome with loose anagen hair with variants in the <scp><i>PPP1CB</i></scp> gene: First familial case reported |
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| Novel genetic testing model: A collaboration between genetic counselors and nephrology |
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| Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the <scp><i>PER2</i></scp> circadian rhythm gene |
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| Novel <scp><i>FOXP1</i></scp> pathogenic variants in two Indian subjects with syndromic intellectual disability |
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✓ |
✓ |
Indian |
| Lessons from a 30 year follow‐up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them |
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| Liver transplant as a curative treatment in a pediatric patient with classic homocystinuria: A case report |
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| Craniofacial and occlusal features of children with Noonan syndrome |
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| Aldosterone synthase (<scp>CYP11B2</scp>) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity |
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✓ |
✓ |
Palestinian; Arab |
| Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information |
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| Evidence that <scp><i>FGFRL1</i></scp> contributes to congenital diaphragmatic hernia development in humans |
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| Interfamilial clinical variability in four <scp>Polish</scp> families with cranioectodermal dysplasia and identical compound heterozygous variants in <scp><i>WDR35</i></scp> |
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✓ |
✓ |
Polish |
| <scp><i>AIFM1</i></scp>‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination |
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| First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel <scp>ACBD5</scp> variant: A case report and review of literature |
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| Hyperinsulinism in an individual with an <scp><i>EP300</i></scp> variant of <scp>Rubinstein‐Taybi</scp> syndrome |
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| 41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting |
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| Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo <scp><i>MEIS2</i></scp> mutation: A clinical longitudinal study |
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|
| Table of Contents, Volume 185A, Number 2, February 2021 |
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| In This Issue |
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| <scp><i>MBD5‐</i></scp>related intellectual disability in a Vietnamese child |
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✓ |
✓ |
Vietnamese |
| Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype |
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| Publication schedule for 2021 |
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| Genome Research Institute Identifies Vision for the Future |
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| <i>Gpr12</i> Linked to Short‐Term Memory |
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| Cover Image, Volume 185A, Number 2, February 2021 |
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| Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism? |
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| Cancer surveillance in children with Ollier Disease and Maffucci Syndrome |
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| Adult diagnosis of <scp>Townes–Brocks</scp> syndrome with renal failure: Two related cases and review of literature |
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| Genotype–phenotype correlation in <scp><i>GNB1</i></scp>‐related neurodevelopmental disorder: Potential association of p.<scp>Leu95Pro</scp> with cleft palate |
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| Expansion of <scp><i>NEUROD2</i></scp> phenotypes to include developmental delay without seizures |
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| Phenotypic spectrum associated with pathogenic mutation in the <scp>NRG1</scp> gene in Acadian family |
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Acadian descent |
| <scp><i>SCYL1</i></scp> disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of <scp><i>SCYL1</i></scp> |
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| Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the <scp><i>NF1</i></scp> locus: Testing considerat |
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| Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome |
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| A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18 |
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| <scp>SRD5A3‐CDG</scp>:<scp>3D</scp>structure modeling, clinical spectrum, and<scp>computer‐based</scp>dysmorphic facial recognition |
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