| High number of candidate gene variants are identified as disease‐causing in a period of 4 years |
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| Radiological characteristics of skeletal growth in neonates and infants with achondroplasia |
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✓ |
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Japanese |
| Late‐onset mucopolysaccharidosis type <scp>IIIA</scp> mimicking Usher syndrome |
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| <scp>RASopathies</scp> are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta‐analysis |
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| Growth, body composition, and endocrine‐metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies |
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| A novel single‐base deletional mutation of <scp><i>MIP</i></scp> impairs protein distribution and cell‐to‐cell adhesion in autosomal dominant cataracts in a Chinese family |
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| <i>TREX‐1</i> related Aicardi‐Goutières syndrome improved by Janus kinase inhibitor |
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| Biallelic <i>LZTR1</i> variants in a 49‐year‐old woman with hypertrophic cardiomyopathy: A clue for considering <i>LZTR1</i> in adults |
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| Double somatic mosaicism in <scp>Cornelia de Lange</scp> syndrome |
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| A case of <scp><i>MBTPS1</i></scp>‐related disorder due to compound heterozygous variants in <scp><i>MBTPS1</i></scp> gene: Genotype–phenotype expansion and the emergence of a novel syndrome |
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| A novel <scp><i>TTC26</i></scp> variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenot |
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| Long‐read genome sequencing reveals a novel intronic retroelement insertion in <scp><i>NR5A1</i></scp> associated with 46,<scp>XY</scp> differences of sexual development |
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| Long‐term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex |
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| Expanding the phenotypic and genotypic spectrum of <scp>GGPS1</scp> related congenital muscular dystrophy |
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| Multi‐locus pathogenic variation identified in a patient with craniosynostosis |
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| Facial dysmorphology in children exposed in pregnancy to anticonvulsant medications correlates with deficits in <scp>IQ</scp> |
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| Friends, Family, and Colleagues Remember Dr. John Opitz |
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| Table of Contents, Volume 194A, Number 1, January 2024 |
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| In Memoriam: John M. Opitz, MD |
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| In This Issue |
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| A severe neurocognitive phenotype caused by biallelic <i>CHD3</i> variants in two siblings |
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✓ |
✓ |
Iranian descent |
| Genetics of 21‐hydroxylase deficiency: Clinical presentation should guide the investigation |
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| Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine |
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| Letter to the Editor regarding “New cases of recently described <scp>Thauvin‐Robinet‐Faivre</scp> syndrome with a novel homozygous <scp><i>FIBP</i></scp> gene variant” by Kılıç and Koşukçu, “An invest |
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| Recognizing the importance of adequate follow‐up for hearing impairment in trisomy 18 |
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| De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex |
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| Patent ductus arteriosus and coarctation of the aorta in association with <scp><i>PRDM6</i></scp> variants |
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| A patient with <scp>Pitt–Hopkins</scp> syndrome with concomitant common variable immunodeficiency |
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| Genetic counselors' utilization of <scp>ChatGPT</scp> in professional practice: A <scp>cross‐sectional</scp> study |
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| Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network |
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| Growing up with Marshall syndrome: A case report from infancy to age 12.5 years |
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| Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution‐based retrospective study |
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| Clinical course and therapeutic trial for a case of congenital secretory diarrhea due to novel <i>GUCY2C</i> variant |
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| Maternal <scp><i>CHD7</i></scp> gonosomal mosaicism in a fetus with <scp>CHARGE</scp> syndrome |
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| The functional study of a novel <scp>MKRN3</scp> missense mutation associated with familial central precocious puberty |
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✓ |
✓ |
Chinese |
| <scp>RNA</scp> sequencing reveals deep intronic <scp><i>CEP120</i></scp> variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31 |
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| <scp><i>SAMHD1</i></scp> compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of <scp>Aicardi–Goutières</scp> syndrome |
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| Refining the activities of genetic assistants: Development of task statements applicable across practice settings |
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| An adult patient with <scp>Tatton–Brown–Rahman</scp> syndrome caused by a novel <scp><i>DNMT3A</i></scp> variant and axonal polyneuropathy |
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| Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting |
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| Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the <scp><i>FMR1</i></scp> gene |
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| John M Opitz: Physician, morphologist, scholar, editor (1935–2023) |
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| Ophthalmic manifestations of Czech dysplasia |
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| Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction |
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✓ |
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Venezuelan descent |
| “We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with <scp>Fragile X</scp> syndrome in <scp>Australia</scp> |
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| Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases |
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| A novel variant in <i>CYFIP2</i> in a girl with severe disabilities and bilateral perisylvian polymicrogyria |
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| The <scp>8th International RASopathies Symposium</scp>: Expanding research and care practice through global collaboration and advocacy |
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| Ocular manifestations in a cohort of 43 patients with <scp>KBG</scp> syndrome |
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| Biallelic variants of the first Kunitz domain of <scp>SPINT2</scp> cause a non‐syndromic form of congenital diarrhea and tufting enteropathy |
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| Clinical phenotypes of individuals with <scp>Chung–Jansen</scp> syndrome across age groups |
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| Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous <scp>DMD</scp> exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms |
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| Molecular characterization of 13 patients with <scp><i>PIK3CA</i></scp>‐related overgrowth spectrum using a targeted deep sequencing approach |
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| Table of Contents, Volume 191A, Number 12, December 2023 |
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| In This Issue |
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| Neolithic Community Revealed Using Ancient <scp>DNA</scp> Data |
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| Publication schedule for 2023 |
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| Heteroplasmic pathogenic m.<scp>12315G</scp>>A variant in <scp><i>MT‐TL2</i></scp> presenting with <scp>MELAS</scp> syndrome and depletion of nitric oxide donors |
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| Sequencing the Y Chromosome |
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| Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type <scp><i>FN1</i></scp>‐related |
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| A novel <scp><i>KNL1</i></scp> intronic splicing variant likely destabilizes the <scp>KMN</scp> complex, causing primary microcephaly |
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| Calloso‐adreno‐scrotal agenesis associated with biallelic <scp>MAPK</scp>‐activating death domain protein (<scp>MADD</scp>) variant: Further phenotypic delineation of <scp>MADD</scp> deficiency |
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| Undifferentiated psychosis or schizophrenia associated with vermis‐predominant cerebellar hypoplasia |
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| Vertebral artery dissection caused by atlantoaxial dislocation in a patient with Marfan syndrome |
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| Application of the <scp>Face2Gene</scp> tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives |
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| Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the <scp><i>DMD</i></scp> and upstream region of <scp><i>POU3F4</i></scp> genes |
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| A novel homozygous variant in <scp><i>ATL1</i></scp> associated with early onset spastic paraplegia <scp>3A</scp>: Further evidence for autosomal recessive inheritance |
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✓ |
✓ |
"consanguineous Arabic families" and "a consanguineous Arabic family" |
| Phenotypic heterogeneity associated with <scp><i>KIF21A</i></scp>: Two new cases and review of the literature |
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| Understanding recessive disease risk in multi‐ethnic populations with different degrees of consanguinity |
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| Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in <scp><i>MYLK</i></scp> |
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| Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2 |
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| Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with <scp><i>SLCO2A1</i></scp>: Report of two cases and literature review |
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✓ |
✓ |
Asian origin |
| Arterial tortuosity in pediatric Loeys‐Dietz syndrome patients |
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| First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus |
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| Probable digenic inheritance of <scp>Diamond–Blackfan</scp> anemia |
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| 45,X/46,<scp>XY</scp> mosaicism: Clinical manifestations and long term <scp>follow‐up</scp> |
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| Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review |
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| Indian patients with <scp>CHST3</scp>‐related chondrodysplasia with congenital joint dislocations |
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| New cases of recently described <scp>Thauvin‐Robinet‐Faivre</scp> syndrome with a novel homozygous <i>FIBP</i> gene variant |
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| Neurodevelopmental and other phenotypes recurrently associated with heterozygous <scp><i>BAZ2B</i></scp> loss‐of‐function variants |
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| Clinical relevance of genetic variants in the von Willebrand factor according to in‐silico methods |
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| Novel compound heterozygous <scp><i>ATP1A2</i></scp> variants in a patient with fetal akinesia/hypokinesia sequence |
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| The importance of patient‐specific resources for families dealing with prenatal rare diseases |
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| The phenotypic heterogeneity of the variant m.5537_5538insT in <i>MT‐TW</i> does not only depend on the heteroplasmy rates |
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| A case of mosaic deletion of paternally‐inherited <scp><i>PLAGL1</i></scp> and two cases of upd(6)mat add to evidence for <scp><i>PLAGL1</i></scp> under‐expression as a cause of growth restriction |
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| Homozygous deletion of the <i>DSG3</i> terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa |
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| Characterization of seizures and <scp>EEG</scp> findings in creatine transporter deficiency due to <scp>SLC6A8</scp> mutation |
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| A mesomelic skeletal dysplasia, Kantaputra‐like, not related to <i>HOXD</i> cluster region, and with phenotypic gender differences |
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✓ |
✓ |
Brazilian family |
| Publication schedule for 2023 |
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| Table of Contents, Volume 191A, Number 11, November 2023 |
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| Topical Gene Therapy Restores Vision in Ocular Dystrophic Epidermolysis Bullosa |
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| The Willingness to Participate in Genetic Studies may be Genetic |
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| In This Issue |
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| <scp><i>EED</i></scp> related overgrowth: First report of multiple members in a single family |
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| A novel de novo intragenic duplication in <scp><i>FBN1</i></scp> associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature |
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| Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti‐seizure medication |
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| Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry |
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| Growth reference charts for children with hypochondroplasia |
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| Substantial incidence of bladder dysfunction in patients with <scp>VACTERL</scp> association: Implications for surveillance |
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| Causes of death in individuals with trisomy 18 after the first year of life |
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| Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session |
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| Craniosynostosis in molecularly diagnosed <scp>Kabuki</scp> syndrome: Prevalence and clinical implications |
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| <scp>Vissers‐Bodmer</scp> syndrome caused by a novel de novo <scp><i>CNOT1</i></scp> frameshift variant |
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| <scp>Live‐born</scp> autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series—Spanning 52 years of experience in a single center |
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| Adapting a quality of life scale for children and young people with <scp>Down</scp> syndrome in <scp>Chile</scp> |
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| Refining the phenotypic spectrum of <i>CCDC88A</i>‐related <scp>PEHO</scp>‐like syndrome |
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| The <i>IFITM5</i> Ser40Leu variant can manifest as prenatal Caffey disease |
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| Annular pancreas in two sisters: The story goes on |
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| Growth in puberty in girls with hypochondroplasia, p.Asn540Lys‐related mutations |
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| Clinical utility of early rapid genome sequencing in the evaluation of patients with differences of sex development |
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| <scp>ACBD5</scp>‐related retinal dystrophy with leukodystrophy due to novel mutations in <i>ACBD5</i> and with additional features including ovarian insufficiency |
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| <scp>Tatton‐Brown–Rahman</scp> syndrome: Novel pathogenic variants and new neuroimaging findings |
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| Pathogenic variant in the X‐linked <i>ARR3</i> gene associated with variable early‐onset myopia |
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| Diagnostic yield of chromosomal microarray in the largest Latino clinical cohort |
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| Bone health in <i>SATB2</i>‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance |
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| Parental age effects and Rett syndrome |
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| Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescence |
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| Looking back and beyond the 2017 diagnostic criteria for hypermobile <scp>Ehlers‐Danlos</scp> syndrome: A retrospective cross‐sectional study from an Italian reference center |
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| Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies |
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| Long term outcomes in children with trichohepatoenteric syndrome |
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| Growth charts in <scp>DYRK1A</scp> syndrome |
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| Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother |
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| A recurrent <scp><i>KCNK4</i></scp> variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: <scp>Variable</scp> phenotypic expressivity and insights on patients' dental |
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| Early development and adaptive functioning in children with Bardet‐Biedl syndrome |
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| A familial deletion of 10p12.1 associated with thrombocytopenia |
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| Moebius syndrome and gastroschisis—The second case of a rare association |
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| A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program |
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| Pseudo‐eye‐of‐the‐tiger sign in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (<scp>CANVAS</scp>) |
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| De novo missense variants in <i>ZBTB47</i> are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities |
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| ACMG Seeks to Advance Equitable Access to Clinical Genetics/Genomics Testing |
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| New Framework Released on Using Population Descriptors in Genetics and Genomics Research |
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| Rule out compound heterozygous exonic/deep intronic <i>ABCA4</i> variants in an MNGIE patient with Stargardt disease |
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| Response to “Letter to the editor” regarding “Rule out compound heterozygous exonic/deep intronic <i>ABCA4</i> variants in an MNGIE patient with Stargardt disease” |
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| In This Issue |
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| Table of Contents, Volume 191A, Number 10, October 2023 |
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| Publication schedule for 2023 |
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| Dominant frontonasal dysplasia with ectodermal defects results from increased activity of <i>ALX4</i> |
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| Saliva <scp>DNA</scp>: An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism |
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| Woodhouse–Sakati syndrome in an Indian patient with a novel pathogenic variant |
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✓ |
✓ |
Indian; southern India; Greater Middle Eastern countries |
| Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of <scp><i>PIK3CA</i></scp> |
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| An atypical <scp>Aymé‐Gripp</scp> phenotype detected by exome sequencing |
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| Identification of the first homozygous intragenic deletion in the <scp>YY1AP1</scp> gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome |
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| Variable phenotype of a null <i>PPP1R13L</i> allele in children with dilated cardiomyopathy |
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| Effectiveness of cardiac palliative surgery for trisomy 18 patients with increased pulmonary blood flow |
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| Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation |
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| Musculoskeletal phenotypes in 3q29 deletion syndrome |
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| Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome |
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| Heterozygous gain of function variants in a critical region of <scp><i>RNF13</i></scp> cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive |
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| Impact of tracheostomies on the long‐term survival of patients with trisomy 13 syndrome |
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| Expansion of the phenotypic spectrum associated with pathogenic missense variation in <scp><i>DHX16</i></scp> |
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| Are <scp><i>CUL3</i></scp> variants an underreported cause of congenital heart disease? |
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| The mitochondrial tRNA MT‐TW m.5537_5538insT variant presents with significant intra‐familial clinical variability |
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| Atlantoaxial instability associated with <i>ALDH18A1</i> mutation |
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| Ear anomalies and hearing loss in patients with <scp>VACTERL</scp> association and the effect of maternal diabetes |
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✓ |
✓ |
Hispanic ancestry |
| A Japanese patient with <scp>Teebi</scp> hypertelorism syndrome and a novel <scp><i>CDH11</i> EC1</scp> domain variant |
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| Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia |
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| Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations |
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Albanian origin |
| A novel report of a fertile female with partial <scp>Y</scp> chromosome gain completing a healthy pregnancy |
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| Further characterization of <scp><i>CEP85L</i></scp>‐associated lissencephaly type 10: Report of a three‐generation family and review of the literature |
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| A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in <i>SORD</i> gene causing sorbitol dehydrogenase deficiency |
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| Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel <scp><i>FGF10</i></scp> donor splice‐site mutation |
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| Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7 |
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| A homozygous missense variant in the <scp><i>PLCB4</i></scp> gene causes severe phenotype of auriculocondylar syndrome type 2 |
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| Polygenic Scores Fall Short on Diversity |
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| Publication schedule for 2023 |
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| Table of Contents, Volume 191A, Number 9, September 2023 |
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| Health Insurance Denials Limit Access to Genetic Testing |
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| In This Issue |
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| Novel association of Dandy–Walker malformation with <scp><i>CAPN15</i></scp> variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome |
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| Thiamine metabolism dysfunction syndrome 5 (<scp>THMD5</scp>) mimicking acute disseminated encephalomyelitis |
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| Congenital diaphragmatic hernia in siblings with <scp><i>PIGA</i></scp>‐related congenital disorder of glycosylation |
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| A novel pathogenic variant c.<scp>262delA</scp> in <scp><i>PBX1</i></scp> causing oligomeganephronia identified using whole‐exome sequencing and a literature review |
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| Epidemiology of spinal muscular atrophy caused by <scp><i>SMN1</i></scp> deletions in Maritime Canada |
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| An incidental finding in prenatal exome sequencing—A case study and review of the clinical and ethical considerations |
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| Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin‐2 (<scp><i>FDX2</i></scp>) gene |
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| A Noonan‐like pediatric patient with a de novo <i>CBL</i> pathogenic variant and an <i>RNF213</i> polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial a |
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| The smallest likely pathogenic duplication of a <scp><i>SOX9</i></scp> enhancer identified to date in a family with 46,<scp>XX</scp> testicular differences of sex development |
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| Case of <i>CLPB</i> deficiency solved by HiFi long read genome sequencing and RNAseq |
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| Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in <scp><i>NLRP3</i></scp> causes <scp>CINCA</scp>/<scp>NOMID</scp> |
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| A 22q13.1 duplication in mosaicism including <i>SOX10</i> |
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| Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review |
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| Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+<scp>1G</scp>><scp>T</scp>) of <scp><i>CNOT1</i></scp> gene associated with neurodevelopmental disorders |
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| An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders |
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| Characteristics of hearing impairment in patients with trisomy 18 |
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| Neurofibromatosis‐ and schwannomatosis‐associated tumors: Approaches to genetic testing and counseling considerations |
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| Compound heterozygous variants in <scp><i>MAPK8IP3</i></scp> were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy |
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| In Memoriam: Charles R. Scriver (1930–2023) |
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| In This Issue |
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| Table of Contents, Volume 191A, Number 8, August 2023 |
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| Publication schedule for 2023 |
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| American College of Medical Genetics Issues Guidance on Polygenic Risk Scores |
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| Cover Image, Volume 191A, Number 8, August 2023 |
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| A case of <i>LSS</i>‐associated congenital nuclear cataract with hypotrichosis and literature review |
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| The importance of age‐specific gene expression |
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| Associated anomalies in <scp>Pierre Robin</scp> sequence |
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| Novel homozygous <scp><i>LAMB1</i></scp> in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event |
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| Revisiting the diagnosis of Gaucher disease in a family with multiple <scp><i>GBA1</i></scp> variants |
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| <i>ZFHX4</i> truncating variant and orofacial clefting |
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| Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma |
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| 15q26.3 deletions distal to <scp><i>IGF1R</i></scp> cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature |
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| Turner syndrome may be associated with hepatic adenoma |
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| Early initiation of <scp>B</scp>‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the <scp>TANGO2</scp> natural history study |
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| Isolated frontosphenoidal craniosynostosis: An argument for genetic testing |
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| The social phenotype associated with <scp>Wiedemann‐Steiner</scp> syndrome: Autistic traits juxtaposed with high social drive and prosociality |
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| Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type <scp>III</scp> in 34 <scp>Egyptian</scp> patients |
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| Confirmation of gray matter heterotopia as part of the <scp><i>DDX23</i></scp> phenotypic spectrum |
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| Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” |
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| The importance of gynecological examination in adolescent girls and adult women with <scp>Prader–Willi</scp> syndrome |
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| Updated consensus guidelines on the management of Phelan–McDermid syndrome |
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| A recurrent homozygous <scp><i>LMNA</i></scp> missense variant p.<scp>Thr528Met</scp> causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skel |
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| A nonsense variant in the N‐terminal acetyltransferase <i>NAA30</i> may be associated with global developmental delay and tracheal cleft |
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| Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms |
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| Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia |
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✓ |
✓ |
Egyptian |
| Homozygous 22q11.2 distal type <scp>II</scp> microdeletion is associated with syndromic neurodevelopmental delay |
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| The spectrum of hereditary neuromuscular disorders in the Pakistani population |
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✓ |
✓ |
✓ |
patients of European descent; Pakistani population; populations that have possible shared ancestry with the Pakistani population |
| Correction to “The spectrum of neurological manifestations and genotype–phenotype correlation in Indian children with Gaucher disease” |
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| Heterozygous variants in <scp><i>TBCK</i></scp> cause a mild neurologic syndrome in humans and mice |
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| Five siblings expand the spectrum of <i>GPC6</i>‐related skeletal dysplasia |
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| Homozygous splice site variant affecting the first von <scp>Willebrand</scp> factor <scp>A</scp> domain of <scp><i>COL12A1</i></scp> in a patient with myopathic <scp>Ehlers‐Danlos</scp> syndrome |
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| Proximal 1q21 duplication: A syndrome or a susceptibility locus? |
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| Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference? |
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| Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome |
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| An exploratory study of plasma ceramides in comorbidities in Down syndrome |
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| Missense variant in <i>SRCAP</i> with distinct DNA methylation signature associated with non‐FLHS SRCAP‐related neurodevelopmental disorder |
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| Healthcare experiences of patients with Down syndrome from primarily Spanish‐speaking households |
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| A novel biallelic frameshift variant in <i>C2orf69</i> causing developmental regression, seizures, microcephaly, autistic features, and hypertonia |
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| Further validation of craniosynostosis as a part of phenotypic spectrum of <scp><i>BCL11B</i></scp>‐related <scp>BAFopathy</scp> |
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| Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1 |
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✓ |
✓ |
African; sub-Saharan Africa |
| Exploring collaboration models between geneticists and intensivists for implementing rapid genome sequencing in critical care settings |
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| A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta |
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| Identification and molecular characterization of two recurrent missense mutations in the <scp><i>RS1</i></scp> gene in two families with X‐linked retinoschisis from North India |
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| Incidence and outcome of arrhythmias and electrical disease in patients with Trisomy 18 |
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| <i>PUF60</i>‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic <i>PUF60</i> variants |
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| Expanding the phenotype of anauxetic dysplasia caused by biallelic <scp><i>NEPRO</i></scp> mutations: A case report |
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| Exome sequencing in a Romanian <scp>Bardet‐Biedl</scp> syndrome cohort revealed an overabundance of causal <scp><i>BBS12</i></scp> variants |
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✓ |
✓ |
✓ |
Europe; Eastern European; Romani origin |
| Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review |
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| Bubonic Plague Protector Shows Its Dark Side |
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| Genomic Analysis Unlocks Cause Of Beethoven's Death |
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| Table of Contents, Volume 191A, Number 7, July 2023 |
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| Publication schedule for 2023 |
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| In This Issue |
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| Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1 |
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| Biallelic variants in <scp><i>NUDCD2</i></scp> associated with a multiple malformation syndrome with cholestasis and renal failure |
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| Views on the impact of the <scp>COVID</scp>‐19 pandemic on health in people with Down syndrome from diverse backgrounds |
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| Pediatric pulmonary arterial hypertension due to a novel homozygous <scp><i>GDF2</i></scp> missense variant affecting <scp>BMP9</scp> processing and activity |
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| An in‐frame deletion affecting the critical acid loop of <scp><i>PPP2R5D</i></scp> is associated with a neonatal lethal form of <scp><i>PPP2R5D</i></scp>‐related neurodevelopmental disorder |
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| The contribution of mosaicism to genetic diseases and de novo pathogenic variants |
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| <i>TOPORS</i> as a novel causal gene for Joubert syndrome |
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✓ |
✓ |
Dominican descent; Dominican ancestry |
| Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with <scp>KBG</scp> syndrome |
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✓ |
✓ |
non-Hispanic and Hispanic populations |
| <scp>ConsCal</scp>: A tool to aid medical genetics professionals in consanguineous populations |
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| Maternally inherited deletion encompassing the <scp><i>RTL1as</i></scp> and <scp><i>MEG8</i></scp> genes of the human 14q32 imprinted region in a patient with a mild Kagami‐Ogata syndrome phenotype |
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| Correspondence: Perspectives on the future of dysmorphology |
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| Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings |
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| Multifocal heterotopic ossification in a man with germline variants of <scp>LIM</scp> Mineralization Protein‐1 (<scp>LMP</scp>‐1) |
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| Retrospective identification of patients with <i>SRRM2</i>‐related neurodevelopmental disorder in a single tertiary children's hospital |
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| Recessive <scp><i>CHRM5</i></scp> variant as a potential cause of neurogenic bladder |
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| Generation of tandem alternative splice acceptor sites and <scp><i>CLTC</i></scp> haploinsufficiency: A cause of <scp><i>CLTC</i></scp>‐related disorder |
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| Expanding the genetic spectrum of <scp>ALKU</scp> syndrome: Compound heterozygosity for two deleterious variants in <scp><i>SMG8</i></scp> gene |
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✓ |
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European population |
| A very mild phenotype in six individuals of a three‐generation family with the novel <scp><i>HRAS</i></scp> variant c.<scp>176C</scp> > <scp>G</scp> p.(<scp>Ala59Gly</scp>): Emergence of a new <scp |
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| Anemia and thrombocytopenia due to a novel <scp><i>BRPF1</i></scp> variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature |
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| <scp>Jansen‐de Vries</scp> syndrome: Expansion of the <scp><i>PPM1D</i></scp> clinical and phenotypic spectrum in 34 families |
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| <scp><i>CHST3</i></scp>‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum |
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| Global health measures from a <scp>N</scp>ational <scp>D</scp>own <scp>S</scp>yndrome <scp>R</scp>egistry |
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| <scp>PHACES</scp>‐like syndrome with <scp><i>TMEM260</i></scp> compound heterozygous variants |
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| Expansion of clinical and variant spectrum of <i>EEF2</i>‐related neurodevelopmental disorder: Report of two additional cases |
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| Report of new variants in <scp><i>PPIL1</i></scp> underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses |
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| Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in <scp><i>PIEZO1</i></scp> |
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| Publication schedule for 2023 |
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| Table of Contents, Volume 191A, Number 6, June 2023 |
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| Fertility Clinic Sued for Implanting Embryo Carrying Cancer Gene |
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| In This Issue |
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| <scp><i>SOX2</i></scp> pathogenic variants with normal eyes: Expanding the phenotypic spectrum |
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| Cover Image, Volume 191A, Number 6, June 2023 |
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| Promising Results with Direct‐to‐Brain Gene Therapy |
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| A homozygous <scp>Gly470Ala</scp> variant in <scp><i>PEX6</i></scp> causes severe <scp>Zellweger</scp> spectrum disorder |
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✓ |
✓ |
Mixtec ancestry; Mixtec population of Central California |
| Multiple facial angiofibromas: A manifestation of Frank‐ter Haar syndrome? |
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| Do <scp><i>PACS1</i></scp> variants impeding adaptor protein binding predispose to syndromic intellectual disability? |
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| Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed <scp><i>SATB2</i></scp>‐associated syndrome |
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| Triplications of chromosome 1p36.3, including the genes <i>GABRD</i> and <i>SKI</i>, are associated with a developmental disorder and a facial gestalt |
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| Clinical and radiological heterogeneity for the rare <scp>FGFR3</scp> variant, p.<scp>Ser344Cys</scp>, description of a third patient |
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| Portal cavernoma in type 1 neurofibromatosis: A fortuitous or causal association? |
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| Inpatient epidemiology, healthcare utilization, and association with comorbidities of Turner syndrome: A National Inpatient Sample study |
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| Uniparental disomy of multiple chromosomes in two cases with a complex phenotype |
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| A de novo <scp><i>U2AF2</i></scp> heterozygous variant associated with hypomyelinating leukodystrophy |
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| De novo <scp><i>RANBP2</i></scp> variant in a fetal demise case with cerebral intraparenchymal hemorrhage |
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| Generation and mutational analysis of a transgenic murine model of the human <i>MAF</i> mutation |
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| Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders |
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| <scp><i>U2AF2</i></scp> variant in a patient with developmental delay, dysmorphic features, and epilepsy |
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| Autosomal dominant inheritance with sex‐limited manifestation: The jury is still out |
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| Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders |
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| Correction to “Expanding the phenotype: Four new cases and hope for treatment in <scp>Bachmann–Bupp</scp> syndrome” |
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| Long‐term effectiveness of enzyme replacement therapy in Fabry disease with the p.Arg227Ter variant: Fabry disease in Ostrobothnia (FAST) study |
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| Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants |
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| A <i>PUS7</i> gene pathogenic variant causing self‐injurious behavior, sleep disturbances, and developmental delay: A case report |
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| Novel mosaic <scp><i>TRAF7</i></scp> likely pathogenic variant in an African American family |
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✓ |
✓ |
African American; African American ancestry |
| Novel nonsense mutation in <i>UNC80</i> in a <scp>T</scp>urkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum |
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✓ |
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Turkish |
| Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in <i>MECOM</i>‐associated syndromes |
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| The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review |
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✓ |
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Turkish |
| First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in <scp>alpha‐mannosidosis</scp> |
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| Development of informant‐report neurobehavioral survey scales for <scp>PTEN</scp> hamartoma tumor syndrome and related neurodevelopmental genetic syndromes |
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| Novel <scp><i>NALCN</i></scp> variant linked to temporal lobe epilepsy |
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| The <scp>D409H</scp> variant in <scp><i>GBA1</i></scp>: Challenges in predicting the Gaucher phenotype in the newborn screening era |
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| Biallelic variants in <scp><i>TUBGCP6</i></scp> result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review |
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| Novel insights on <i>GTPBP3</i>‐associated hypertrophic cardiomyopathy |
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| The Society for Craniofacial Genetics and Developmental Biology 45th Annual Meeting |
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| In This Issue |
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| Publication schedule for 2023 |
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| Table of Contents, Volume 191A, Number 5, May 2023 |
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| American Society of Human Genetics Releases Apology for Misuse of Genetic Research |
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| Pontocerebellar hypoplasia associated with p.<scp>Arg183Trp</scp> homozygous variant in <scp><i>EXOSC1</i></scp> gene: A case report |
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| Metabolomics as a Diagnostic Tool |
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| Quantitative measures of motor development in Angelman syndrome |
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| Adverse childhood experiences and the development of <scp>Down</scp> syndrome regression disorder |
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| Expanding the phenotype of Seckel syndrome associated with biallelic loss‐of‐function variants in <scp><i>CEP63</i></scp> |
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| Long‐term follow‐up of a patient with neonatal form of Gaucher disease |
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| The range of publications on arthrogryposis multiplex congenita from 1995 to 2022—A scoping review |
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| Extending the phenotypes associated with <scp><i>TRIO</i></scp> gene variants in a cohort of 25 patients and review of the literature |
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| <scp><i>H4C5</i></scp> missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome |
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| <scp>RNA</scp> sequencing to support intronic variant interpretation: A case report of <scp><i>TRAPPC12</i></scp>‐related disorder |
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| Cardiometabolic risk in young adults with <scp>Down</scp> syndrome |
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| A novel <scp><i>RYR1</i></scp> variant in an infant with a unique fetal presentation of central core disease |
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| Clinical exome sequencing findings in 1589 patients |
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| A study of disparities in access to genetic care pre‐ and post‐pandemic |
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| ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features |
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Sub‐Saharan Africa |
| Clinical insights from an unusual Turner syndrome manifestation: Congenital cutis verticis gyrata |
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| De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type <scp>III</scp>) |
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| Exome‐wide assessment of isolated biliary atresia: A report from the <scp>National Birth Defects Prevention Study</scp> using child–parent trios and a case–control design to identify novel rare varian |
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| Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features |
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| Long‐term outcomes in <scp>ALG13‐Congenital Disorder of Glycosylation</scp> |
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| High‐depth next‐generation sequencing panel testing in the evaluation of arteriovenous malformations |
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| An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic <i>SUZ12</i> variant |
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| Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network |
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✓ |
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| Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for <scp><i>MEF2C</i></scp> |
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| Developmental disorder and spastic paraparesis in two sisters with a <scp><i>TCF7L2</i></scp> truncating variant inherited from a mosaic mother |
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| <scp><i>PAK1</i></scp> c.<scp>1409 T</scp> > a (p. <scp>Leu470Gln</scp>) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalu |
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| Publication schedule for 2023 |
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| In Loving Memory of Mary Kaye Richter (1945–2022) |
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| In This Issue |
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| Table of Contents, Volume 191A, Number 4, April 2023 |
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| The Human Genome Sequence is now Complete |
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| A cryptic pathogenic <scp><i>NDUFV1</i></scp> variant identified by <scp>RNA</scp>‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes |
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| <scp><i>MT‐ATP6</i></scp> mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype |
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| Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome |
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| Autosomal dominant inheritance with sex‐limited infertility |
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| An atypically mild case of ethylmalonic encephalopathy with pathogenic <scp><i>ETHE1</i></scp> variant |
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| Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands |
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| Predicting factors of neurodevelopmental performance in children with phenylketonuria |
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✓ |
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Portuguese cohort |
| <scp><i>NOTCH1</i></scp> loss of the <scp>TAD</scp> and <scp>PEST</scp> domain: An antimorph? |
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| Before diagnosing a stroke‐like episode, a stroke‐like lesion must be documented on multimodal cerebral <scp>MRI</scp> |
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| Novel filamin C (<i>FLNC</i>) variant causes a severe form of familial mixed <scp>hypertrophic‐restrictive</scp> cardiomyopathy |
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✓ |
✓ |
French‐Canadian descent |
| Whither social media and clinical genetics? |
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| Neonatal lupus is a novel cause of positive newborn screening for X‐linked adrenoleukodystrophy |
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| Prevalence of cardiovascular manifestations in patients with hypermobile <scp>Ehlers‐Danlos</scp> syndrome at the University of Miami |
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| <scp><i>SOX5</i></scp>: <scp>Lamb–Shaffer</scp> syndrome—A case series further expanding the phenotypic spectrum |
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| Chung–<scp>Jansen</scp> syndrome can mimic <scp>Cornelia de Lange</scp> syndrome: Another player among chromatinopathies? |
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| A novel <i>de novo</i> pathogenic variant in <scp><i>TBL1XR1</i></scp> as a new proposed cause of Pierpont syndrome |
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| Diagnosis of <scp><i>TBC1D32</i></scp>‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy |
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| Behold the appearance of the seemingly “<i>absent</i>” fibula: Reconsidering the taxonomy of congenital limb anomalies |
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| Novel blended <scp><i>SNRPE</i></scp>‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia |
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| Severe congenital neutropenia, <i>SRP54</i> pathogenicity, and a framework for surveillance |
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| Bisphosphonate treatment at s<scp>pondylo‐ocular</scp> syndrome due to a novel compound heterozygote variant in <scp><i>XYLT2</i></scp> and review of the literature |
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| A likely pathogenic <scp><i>ACTG1</i></scp> variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome |
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| Phenotypic variability and gastrointestinal manifestations/interventions for growth in <scp><i>NAA10</i></scp>‐related neurodevelopmental syndrome |
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| Correction to “Vestibular and audiological findings in the Alport <scp>syndrome</scp>” |
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| Severe early‐onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by <i>STX16</i> deletion |
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| Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager |
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| History and highlights of the teratological collection in the<i>Narrenturm</i>, Vienna (Austria) |
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| Expanding the reproductive organ phenotype of <i>CHD7</i>‐spectrum disorder |
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| <i>TELO2</i>‐related syndrome (<scp>You‐Hoover‐Fong</scp> syndrome): Description of 14 new affected individuals and review of the literature |
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| Portrait of autosomal recessive diseases in the <scp>French‐Canadian</scp> founder population of <scp>Saguenay‐Lac‐Saint‐Jean</scp> |
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French-Canadian; Saguenay-Lac-Saint-Jean (founder population) |
| Rock around <i>DYRK1A</i>: Ethnic diversity, clinical challenges |
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✓ |
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"ethnic diversity" (title); "different ethnicity"; "ethnic influences in the facial appearance" (abs |
| Publication schedule for 2023 |
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| Cover Image, Volume 191A, Number 3, March 2023 |
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| Pompe's Disease Successfully Treated In Utero |
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| Nosology of genetic skeletal disorders: 2023 revision |
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| Table of Contents, Volume 191A, Number 3, March 2023 |
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| In This Issue |
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| New Mitochondrial Disease Identified In Monozygotic Twin Boys |
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| Prolidase deficiency: A novel <scp><i>PEPD</i></scp> missense variant in exon 2 |
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| <scp><i>LYRM7</i>‐associated</scp> mitochondrial complex <scp>III</scp> deficiency with n<scp>on‐cavitating</scp> leukoencephalopathy and s<scp>troke‐like</scp> episodes |
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| Marked intrafamilial variability of clinical and neuroimaging manifestations in <i>NFIB</i>‐related developmental disorder |
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| <scp><i>ARID2</i></scp>, a rare cause of <scp>Coffin‐Siris</scp> syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review |
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| Eighth case of <scp>Li‐Campeau</scp> syndrome in a Turkish patient caused by a novel pathogenic variant in <i>UBR7</i> and expanding the phenotype |
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| Systemic artery to pulmonary artery aneurysm malformations associated with variants at <i>MCF2L</i> |
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| A mutational hotspot in <scp><i>AMOTL1</i></scp> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature |
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| Phenotypic heterogeneity in 22q11.2 deletion syndrome: <scp>Copy Number Variants</scp> as genetic modifiers for congenital heart disease in a Brazilian cohort |
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| Clinical findings in 39 individuals with <scp>Bohring–Opitz</scp> syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk |
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| Time course of serum neuron‐specific enolase levels from infancy to early adulthood in a female patient with beta‐propeller protein‐associated neurodegeneration |
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| Novel phenotype of aortic root dilatation and late‐onset metabolic decompensation in a patient with <i>TMEM70</i> deficiency |
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| First implication of <scp><i>MIP</i></scp> in bilateral microphthalmia with persistent fetal vasculature |
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| Further delineation of the <scp><i>CWC27</i>‐associated</scp> spliceosomeopathy: Case report and review of the literature |
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| Tethered cord syndrome in <scp>KBG</scp> syndrome |
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| The past, present, and future of child growth monitoring: A review and primer for clinical genetics |
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| Novel noncanonical splice site variant causes mild <scp><i>CHD7</i></scp>‐related disorder with variable intrafamilial expressivity |
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| Genetic testing in the evaluation of individuals with clinical diagnosis of atypical<scp>Sturge–Weber</scp>syndrome |
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| An automatic facial landmarking for children with rare diseases |
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| <i>PPM1K</i> defects cause mild maple syrup urine disease: The second case in the literature |
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| A homozygous truncating <scp><i>ETV4</i></scp> variant in a Nigerian family with congenital anomalies of the kidney and urinary tract |
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| Mosaic pathogenic variants in <scp><i>AKT3</i></scp> cause capillary malformation and undergrowth |
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| Periventricular heterotopia in a male child with <scp><i>USP9X</i></scp> missense variant |
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| Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing |
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| The spectrum of neurological manifestations and genotype–phenotype correlation in Indian children with Gaucher disease |
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✓ |
✓ |
Indian children; in India |
| A pilot study of home‐based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia |
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| Deletion of first noncoding exon in <i>ANKRD11</i> leads to <scp>KBG</scp> syndrome |
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| A novel biallelic <scp><i>CRIPT</i></scp> variant in a patient with short stature, microcephaly, and distinctive facial features |
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| Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome |
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| Response to Letter to the Editor by Palffy and Ghaziuddin |
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| Addressing the Weaponization of Genetic Research |
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| In This Issue |
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| Table of Contents, Volume 191A, Number 2 February 2023 |
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| Evidence Grows for Universal Germline Genetic Testing for Patients with Breast Cancer |
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| Publication schedule for 2023 |
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| Delineating the phenotype of <i>RNU4ATAC</i>‐related spliceosomopathy |
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| Neonatal diagnosis of <scp>ACTA2</scp>‐related disease: A case report and review of literature |
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| Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome |
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| Next generation phenotyping with quantitative narration for DEGCAGS syndrome |
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| Seizures in trisomy 18: Prevalence, description, and treatment |
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| Letter to the Editor regarding “Unexplained regression in Down syndrome: Management of 51 patients in an international patient database” by Santoro et al. |
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| A biallelic frameshift indel in <i>PPP1R35</i> as a cause of primary microcephaly |
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✓ |
✓ |
Turkish; Iranian; predominantly Iranian families; consanguineous Turkish kindred; genetic background |
| Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells |
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| Concurrent de novo <scp>ZFHX4</scp> variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of <scp>ZFHX4</scp> and <scp>USP10</scp> |
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| Novel <scp><i>CRB1</i></scp> pathogenic variant in <scp>Chuuk</scp> families with <scp>Leber</scp> congenital amaurosis |
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| Investigation of a pervasive immune, cardiac, and behavioral phenotype in <scp>Beckwith‐Wiedemann</scp> syndrome: A case report |
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