| Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in <i>NONO</i> |
|
|
|
|
|
|
|
|
|
| The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series |
|
|
|
|
|
|
|
|
|
| Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in <i>SLC26A2</i> |
|
|
|
|
|
|
✓ |
✓ |
Japanese; Japan-specific; exclusively in Japan |
| A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of <i>ASCC1</i> |
|
|
|
|
|
|
|
|
|
| A novel truncating variant in ring finger protein 113A (<i>RNF113A</i>) confirms the association of this gene with X‐linked trichothiodystrophy |
|
|
|
|
|
|
|
|
|
| Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome |
|
|
|
|
|
|
|
|
|
| Biallelic c.1263dupC in <i>DOK7</i> results in fetal akinesia deformation sequence |
|
|
|
|
|
|
|
|
|
| Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study |
|
|
|
|
|
|
|
|
|
| Growth charts in Kabuki syndrome 1 |
|
|
|
|
|
|
|
|
|
| Receiving the news of Down syndrome in the era of prenatal testing |
|
|
|
|
|
|
|
|
|
| <i>PUM1</i> haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy |
|
|
|
|
|
|
|
|
|
| A family affair—Severe fetal and neonatal hemolytic anemia due to novel alpha‐spectrin mutations in two siblings |
|
|
|
|
|
|
|
|
|
| Parental somatogonadal <i>COL2A1</i> mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy |
|
|
|
|
|
|
|
|
|
| Turner syndrome in diverse populations |
|
✓ |
|
|
|
✓ |
✓ |
✓ |
European descent; African descent, Asian, Latin American, Middle Eastern |
| Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan |
|
|
|
|
|
|
|
|
|
| Gain‐of‐function pathogenic variants in <i>SMAD4</i> are associated with neoplasia in Myhre syndrome |
|
|
|
|
|
|
|
|
|
| Exploring the potential association among sleep disturbances, cognitive impairments, and immune activation in 22q11.2 deletion syndrome |
|
|
|
|
|
|
|
|
|
| Robin D.Clark, Cynthia J.Curry. (2019). Genetic Consultations in the Newborn. Oxford University Press, ISBN 978‐0‐19‐999099‐3 Price: Hardback: £65.00/$99.95. |
|
|
|
|
|
|
|
|
|
| NGS targeted screening of 100 Scandinavian patients with coronal synostosis |
|
|
|
|
|
|
✓ |
✓ |
Scandinavian |
| Palmoplantar keratoderma, oral involvement, and homozygous <i>CTSC</i> mutation in two brothers from Cambodia |
|
|
|
|
|
|
✓ |
✓ |
Cambodian; South‐East Asia |
| Holoprosencephaly in Kabuki syndrome |
|
|
|
|
|
|
|
|
|
| Renpenning syndrome in a female |
|
|
|
|
|
|
|
|
|
| Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review |
|
|
|
|
|
|
|
|
|
| Renpenning syndrome in an Indian patient |
|
|
|
|
|
|
|
|
|
| Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome |
|
|
|
|
|
|
|
|
|
| Homozygous variants in <i>AMPD2</i> and <i>COL11A1</i> lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2 |
|
|
|
|
|
|
|
|
|
| Catel–Manzke syndrome without Manzke dysostosis |
|
|
|
|
|
|
|
|
|
| <i>TFE3</i>‐associated neurodevelopmental disorder: A distinct recognizable syndrome |
|
|
|
|
|
|
|
|
|
| Pathogenic homozygous variant in <i>POMK</i> gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families |
|
|
|
|
|
|
✓ |
✓ |
Lithuanian |
| Autosomal dominant inheritance in a recently described <i>ZMIZ1‐</i>related neurodevelopmental disorder: Case report of siblings and an affected parent |
|
|
|
|
|
|
|
|
|
| Marfan syndrome: Evolving organ manifestations—A 10‐year follow‐up study |
|
|
|
|
|
|
|
|
|
| Microcephaly with a simplified gyral pattern in a child with a de novo <i>TUBA1A</i> variant |
|
|
|
|
|
|
|
|
|
| Providing more evidence on <i>LZTR1</i> variants in Noonan syndrome patients |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 182A, Number 1, January 2020 |
|
|
|
|
|
|
|
|
|
| Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature |
|
|
|
|
|
|
|
|
|
| The sixth international RASopathies symposium: Precision medicine—From promise to practice |
|
|
|
|
|
|
|
|
|
| A novel homozygous nonsense mutation of <i>VPS13B</i> associated with previously unreported features of Cohen syndrome |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2020 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 182A, Number 1, January 2020 |
|
|
|
|
|
|
|
|
|
| Biomarker May Predict Cancer Versus Autism Risk in Pten Hamartoma Tumor Syndrome: Decreased levels of fumarate were more strongly associated with autism than cancer in persons with PTEN mutations |
|
|
|
|
|
|
|
|
|
| New Drug Hailed as Major Breakthrough in Cystic Fibrosis |
|
|
|
|
|
|
|
|
|
| Fetoplacental ratios in stillbirths and second trimester miscarriages |
|
|
|
|
|
|
|
|
|
| A prenatally diagnosed case of Donnai‐Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity |
|
|
|
|
|
|
|
|
|
| Primrose syndrome associated with unclassified immunodeficiency and a novel <i>ZBTB20</i> mutation |
|
|
|
|
|
|
|
|
|
| Nephronophthisis due to a novel <i>DCDC2</i> variant in a patient from African‐Caribbean descent: A case report |
|
|
|
|
|
|
✓ |
✓ |
African‐Caribbean; West Indies; Saint Vincent and the Grenadines |
| The duty to warn at‐risk relatives—The experience of genetic counselors and medical geneticists |
|
|
|
|
|
|
|
|
|
| A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within <i>CTNND2</i> by mate‐pair sequencing |
|
|
|
|
|
|
|
|
|
| Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene <i>TRIP12</i> |
|
|
|
|
|
|
|
|
|
| A mixed methods study of physical activity and quality of life in adolescents with Turner syndrome |
|
|
|
|
|
|
|
|
|
| Second report of RING finger protein 113A (<i>RNF113A)</i> involvement in a Mendelian disorder |
|
|
|
|
|
|
|
|
|
| Molecular subtype and growth hormone effects on dysmorphology in Prader–Willi syndrome |
|
|
|
|
|
|
|
|
|
| Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome) |
|
|
|
|
|
|
|
|
|
| Rhizomelic chondrodysplasia punctata morbidity and mortality, an update |
|
|
|
|
|
|
|
|
|
| International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay |
|
|
|
|
|
|
|
|
|
| <i>TGDS</i> pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy |
|
|
|
|
|
|
|
|
|
| Biallelic variants p.Arg1133Cys and p.Arg1379Cys in <i>COL2A1</i>: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies |
|
|
|
|
|
|
|
|
|
| Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome |
|
|
|
|
|
✓ |
✓ |
✓ |
European ancestry; Chinese ancestry |
| Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency |
|
|
|
|
|
|
|
|
|
| Corrigendum |
|
|
|
|
|
|
|
|
|
| Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA |
|
|
|
|
|
|
|
|
|
| Professor Laird Jackson, M.D., FFACMG (Physician, Scientist, Educator, and Advocate): 1930–2019 |
|
|
|
|
|
|
|
|
|
| Okur‐Chung neurodevelopmental syndrome in a patient from Spain |
|
|
|
|
|
|
✓ |
✓ |
Spanish; Asian populations |
| X‐chromosome association studies of congenital heart defects |
|
|
|
|
|
|
|
|
|
| <i>Alu</i>‐mediated <i>Xq24</i> deletion encompassing <i>CUL4B</i>, <i>LAMP2</i>, <i>ATP1B4</i>, <i>TMEM255A</i>, and <i>ZBTB33</i> genes causes Danon disease in a female patient |
|
|
|
|
|
|
|
|
|
| CHARGE syndrome in nine patients from China |
|
|
|
|
|
|
✓ |
✓ |
Chinese; other ethnic groups; different ethnicities |
| <i>IRF2BPL</i> gene variants: One new case |
|
|
|
|
|
|
|
|
|
| Agenesis of the corpus callosum and hepatoblastoma |
|
|
|
|
|
|
|
|
|
| An overview of health issues and development in a large clinical cohort of children with Angelman syndrome |
|
|
|
|
|
|
|
|
|
| Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis |
|
|
|
|
|
|
|
|
|
| Blood pressure in adults with short stature skeletal dysplasias |
|
|
|
|
|
|
|
|
|
| Clinical and neurocognitive issues associated with Bosch‐Boonstra‐Schaaf optic atrophy syndrome: A case study |
|
|
|
|
|
|
|
|
|
| The Promise of Pharmacogenomics: Genetic variation can be used to individualize drug therapy, and is an integral component of genomic medicine |
|
|
|
|
|
|
|
|
|
| New Gene Editing Research Hopes to Eliminate Genetically Related Male Infertility |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 12, December 2019 |
|
|
|
|
|
|
|
|
|
| Healthcare recommendations for Joubert syndrome |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 12, December 2019 |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| Wiedemann‐Steiner syndrome in two patients from Portugal |
|
|
|
|
|
|
✓ |
✓ |
Portuguese |
| A novel heterozygous loss‐of‐function <i>DCC</i> Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature |
|
|
|
|
|
|
|
|
|
| NRAS associated RASopathy and embryonal rhabdomyosarcoma |
|
|
|
|
|
|
|
|
|
| Myokine levels after resistance exercise in young adults with Prader–Willi syndrome (PWS) |
|
|
|
|
|
|
|
|
|
| Adults with Loeys–Dietz syndrome and vascular Ehlers–Danlos syndrome: A cross‐sectional study of health burden perspectives |
|
|
|
|
|
|
|
|
|
| Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies |
|
|
|
|
|
|
|
|
|
| Weight gain velocity in infants with achondroplasia |
|
|
|
|
|
|
|
|
|
| Medically actionable comorbidities in adults with Costello syndrome |
|
|
|
|
|
|
|
|
|
| Sleep‐disordered breathing in children with pycnodysostosis |
|
|
|
|
|
|
|
|
|
| Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in <i>HNRNPH2</i> |
|
|
|
|
|
|
|
|
|
| Duplication 2p16 is associated with perisylvian polymicrogyria |
|
|
|
|
|
|
|
|
|
| Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype |
|
|
|
|
|
|
|
|
|
| Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials |
|
|
|
|
|
|
|
|
|
| Prenatal and perinatal history in Kabuki Syndrome |
|
|
|
|
|
|
|
|
|
| Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry |
|
|
|
|
|
|
|
|
|
| Mutations in the sonic hedgehog pathway cause macrocephaly‐associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway |
|
|
|
|
|
|
|
|
|
| Alzheimer's disease development in adults with Down syndrome: Caregivers' perspectives |
|
|
|
|
|
|
|
|
|
| Nosology and classification of genetic skeletal disorders: 2019 revision |
|
|
|
|
|
|
|
|
|
| Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation |
|
|
|
|
|
|
|
|
|
| Biallelic mutation of <i>FBXL7</i> suggests a novel form of Hennekam syndrome |
|
|
|
|
|
|
|
|
|
| Grange syndrome due to homozygous <i>YY1AP1</i> missense rare variants |
|
|
|
|
|
|
|
|
|
| Brain white matter abnormalities associated with copy number variants |
|
|
|
|
|
|
|
|
|
| Intrafamilial “DOA‐plus” phenotype variability related to different OMI/HTRA2 expression |
|
|
|
|
|
|
|
|
|
| Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 11, November 2019 |
|
|
|
|
|
|
|
|
|
| Opportunities and Challenges for Implementing Genomics into Clinical Care |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 11, November 2019 |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Harnessing the Diagnostic Power of Genomic Technology: Genomic technology may shed years off the diagnostic process |
|
|
|
|
|
|
|
|
|
| Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum |
|
|
|
|
|
|
|
|
|
| Prevalence of unsuspected abnormal echocardiograms in adolescents with down syndrome |
|
|
|
|
|
|
|
|
|
| <i>IFT172</i> as the 19th gene causative of oral‐facial‐digital syndrome |
|
|
|
|
|
|
|
|
|
| Novel and lethal case of cardiac involvement in <i>DNM1L</i> mitochondrial encephalopathy |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high‐density SNP array to map homozygosity and identify the gene |
|
|
|
|
|
|
|
|
|
| Two middle‐aged women with the Finnish variant of muscle‐eye‐brain disease (MEB) |
|
|
|
|
|
|
✓ |
✓ |
Finnish |
| Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome) |
|
|
|
|
|
|
|
|
|
| ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes |
|
|
|
|
|
|
|
|
|
| Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis |
|
|
|
|
|
|
|
|
|
| Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse |
|
|
|
|
|
|
|
|
|
| Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome |
|
|
|
|
|
|
|
|
|
| Phenotypic expansion of <i>POFUT1</i> loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions |
|
|
|
|
|
|
|
|
|
| Comments on: A de novo in‐frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient |
|
|
|
|
|
|
|
|
|
| Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease |
|
|
|
|
|
|
|
|
|
| Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule |
|
|
|
|
|
|
|
|
|
| Broken bones and irresponsible testimony? |
|
|
|
|
|
|
|
|
|
| Hydrops fetalis in a cohort of 3,137 stillbirths and second trimester miscarriages |
|
|
|
|
|
|
|
|
|
| Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome |
|
|
|
|
|
|
|
|
|
| An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in <i>RPS6KA3</i> |
|
|
|
|
|
|
|
|
|
| <i>CNOT2</i> haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 10, October 2019 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 10, October 2019 |
|
|
|
|
|
|
|
|
|
| Psychosocial Risks Minimal with Genetic Testing |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| Birth Defects Associated with Higher Risk of Childhood Cancers: Forty specific birth defect–childhood cancer associations were identified as statistically significant |
|
|
|
|
|
|
|
|
|
| Homozygous variants in <i>MAPRE2</i> and <i>CDON</i> in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis |
|
|
|
|
|
|
|
|
|
| Do individuals with Angelman syndrome have a maladaptive behavior? |
|
|
|
|
|
|
|
|
|
| Obituary: Antonio Richieri‐Costa (1946–2019) |
|
|
|
|
|
|
|
|
|
| Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France |
|
|
|
|
|
|
|
|
|
| Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience |
|
|
|
|
|
|
|
|
|
| Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders |
|
|
|
|
|
|
|
|
|
| Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in <i>SCN1B</i> |
|
|
|
|
|
|
|
|
|
| Novel dominant K<sub>ATP</sub> channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping |
|
|
|
|
|
|
|
|
|
| The first case of a non‐infertile female patient with Pitt–Hopkins syndrome |
|
|
|
|
|
|
|
|
|
| A group of Brazilian Turner syndrome patients: Better quality of life than the control group |
|
|
|
|
|
|
|
|
|
| Associated anomalies in cases with agenesis of the corpus callosum |
|
|
|
|
|
|
|
|
|
| Novel homozygous <i>ENPP1</i> mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome |
|
|
|
|
|
|
|
|
|
| Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review |
|
|
|
|
|
|
|
|
|
| A recurrent 8 bp frameshifting indel in <i>FOXF1</i> defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins |
|
|
|
|
|
|
|
|
|
| Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula |
|
|
|
|
|
|
|
|
|
| From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with <i>PNKP</i> gene mutations |
|
|
|
|
|
|
|
|
|
| <i>IRF2BPL</i> gene mutation: Expanding on neurologic phenotypes |
|
|
|
|
|
|
|
|
|
| Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years |
|
|
|
|
|
|
|
|
|
| <i>HIST1H1E</i> heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype i |
|
|
|
|
|
|
|
|
|
| Coffin–Lowry syndrome in Chinese |
|
|
|
|
|
|
✓ |
✓ |
Chinese; other ethnicities |
| Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review |
|
|
|
|
|
|
|
|
|
| Biallelic and <i>De Novo</i> Variants in <i>DONSON</i> Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities |
|
|
|
|
|
|
|
|
|
| Longitudinal MRI findings in patient with <i>SLC25A12</i> pathogenic variants inform disease progression and classification |
|
|
|
|
|
|
|
|
|
| Correspondence to Rossetti et al.'s review of the phenotypic spectrum associated with haploinsufficiency of <i>MYRF</i> |
|
|
|
|
|
|
|
|
|
| Lenz–Majewski syndrome in a patient from Egypt |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| Gene Editing may have Increased Mortality for Chinese Twins |
|
|
|
|
|
|
|
|
|
| Mutations in Gene Coding for SLIT2 Linked to Preterm Birth: SLIT2 and its receptor ROBO1 are components of the signaling network that promotes spontaneous preterm birth |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 9, September 2019 |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 9, September 2019 |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Maternally inherited <i>MAF</i> variant associated with variable expression of Aymé‐Gripp syndrome |
|
|
|
|
|
|
|
|
|
| Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder |
|
|
|
|
|
|
|
|
|
| Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype |
|
|
|
|
|
|
|
|
|
| Parental gonadal but not somatic mosaicism leading to de novo <i>NFIX</i> variants shared by two brothers with Malan syndrome |
|
|
|
|
|
|
|
|
|
| <i>SOS1</i> mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review |
|
|
|
|
|
|
|
|
|
| Adams–Oliver syndrome caused by mutations of the <i>EOGT</i> gene |
|
|
|
|
|
|
|
|
|
| Phenotype delineation of <i>ZNF462</i> related syndrome |
|
|
|
|
|
|
|
|
|
| Anthropometric characteristics of newborns with Prader–Willi syndrome |
|
✓ |
|
|
|
|
✓ |
✓ |
both parents of Italian origin |
| Ellis‐van Creveld syndrome in a patient from Tanzania |
|
|
|
|
|
|
|
|
|
| Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation |
|
|
|
|
|
|
|
|
|
| Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 8, August 2019 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 8, August 2019 |
|
|
|
|
|
|
|
|
|
| New Causal Candidate Genes and Enhancers Linked to Orofacial Clefting Identified |
|
|
|
|
|
|
|
|
|
| Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome |
|
|
|
|
|
|
|
|
|
| Coronal craniosynostosis due to <i>TCF12</i> mutations in patients from Turkey |
|
|
|
|
|
|
✓ |
✓ |
Turkish |
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Woodhouse–Sakati Syndrome: First report of a Portuguese case |
|
|
|
|
|
|
✓ |
✓ |
Portuguese |
| Objective measures of sleep disturbances in children with Potocki–Lupski syndrome |
|
|
|
|
|
|
|
|
|
| Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome |
|
|
|
|
|
|
|
|
|
| Scope of hearing loss in Beckwith–Wiedemann syndrome and hemihypertrophy |
|
|
|
|
|
|
|
|
|
| <i>MAP1B</i> related syndrome: Case presentation and review of literature |
|
|
|
|
|
|
|
|
|
| Impact of genetic subtypes of Prader–Willi syndrome with growth hormone therapy on intelligence and body mass index |
|
|
|
|
|
|
|
|
|
| <i>PAPSS2</i>‐related brachyolmia: Clinical and radiological phenotype in 18 new cases |
|
|
|
✓ |
|
✓ |
|
|
white European patients |
| Dental abnormalities in individuals with pathogenic germline variation in <i>DICER1</i> |
|
|
|
|
|
|
|
|
|
| Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study |
|
|
|
|
|
|
|
|
|
| Equipoise of recent estimated Down syndrome live births in Japan |
|
|
|
|
|
|
|
|
|
| <i>GATA6</i> mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum |
|
|
|
|
|
|
|
|
|
| Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing |
|
|
|
|
|
|
|
|
|
| Annemarie Sommer memorial |
|
|
|
|
|
|
|
|
|
| Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico |
|
|
|
|
|
|
✓ |
✓ |
Hispanics; Mexican; ethnic background |
| Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with <i>ZBTB20</i> variants |
|
|
|
|
|
|
|
|
|
| A novel <i>FAM20C</i> mutation causes a rare form of neonatal lethal Raine syndrome |
|
|
|
|
|
|
|
|
|
| Epidemiology of achondroplasia: A population‐based study in Europe |
|
|
|
|
|
|
|
|
|
| Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for <i>FOXA2</i> in 20p11.2 deletion syndrome |
|
|
|
|
|
|
|
|
|
| Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997–2011 |
|
|
|
|
|
|
|
|
|
| <i>PDGRFB</i> mutation‐associated myofibromatosis: Response to targeted therapy with imatinib |
|
|
|
|
|
|
|
|
|
| Biallelic variants in <i>COX4I1</i> associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures |
|
|
|
|
|
|
|
|
|
| Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jewish; Jewish population; various ethnic backgrounds |
| Clinical and molecular analysis in Papillon–Lefèvre syndrome |
|
|
|
|
|
|
|
|
|
| An emerging ribosomopathy affecting the skeleton due to biallelic variations in <i>NEPRO</i> |
|
|
|
|
|
|
|
|
|
| Anthropometrics, diet, and resting energy expenditure in Norwegian adults with achondroplasia |
|
|
|
|
|
|
|
|
|
| Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases |
|
|
|
|
|
|
|
|
|
| Molecular characterization of known and novel <i>ACVR1</i> variants in phenotypes of aberrant ossification |
|
|
|
|
|
|
|
|
|
| Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum |
|
|
|
|
|
|
|
|
|
| <i>SHOX</i> far‐downstream copy‐number variations involving cis‐regulatory nucleotide variants in two sisters with Leri‐Weill dyschondrosteosis |
|
|
|
|
|
|
|
|
|
| Optic disc swelling in acromicric and geleophysic dysplasia |
|
|
|
|
|
|
|
|
|
| Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling |
|
|
|
|
|
|
|
|
|
| Costello syndrome: Clinical phenotype, genotype, and management guidelines |
|
|
|
|
|
|
|
|
|
| Birth seasonality studies in a large Prader–Willi syndrome cohort |
|
|
|
|
|
|
|
|
|
| Increasing evidence of hereditary lymphedema caused by <i>CELSR1</i> loss‐of‐function variants |
|
|
|
|
|
|
|
|
|
| Maternal nutrient intake and fetal gastroschisis: A case‐control study |
|
|
|
|
|
|
|
|
|
| Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy |
|
|
|
|
|
|
|
|
|
| Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21‐year single‐center experience |
|
|
|
|
|
|
|
|
|
| Expanding the phenotypic spectrum associated with <i>DPF2</i>: A new case report |
|
|
|
|
|
|
|
|
|
| Expanding the phenotype of intellectual disability caused by <i>HIVEP2</i> variants |
|
|
|
|
|
|
|
|
|
| Delineating the expanding phenotype associated with <i>SCAPER</i> gene mutation |
|
|
|
|
|
|
|
|
|
| Skin picking disorder in 97 Italian and Spanish Cri du chat patients |
|
|
|
|
|
|
|
|
|
| A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case |
|
|
|
|
|
|
|
|
|
| Widespread aplasia cutis congenita in sibs with <i>PLEC1</i> and <i>ITGB4</i> variants |
|
|
|
|
|
|
|
|
|
| Gastrointestinal disorders in Down syndrome |
|
|
|
|
|
|
|
|
|
| Glibenclamide treatment in a Cantú syndrome patient with a pathogenic <i>ABCC9</i> gain‐of‐function variant: Initial experience |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 7, July 2019 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 7, July 2019 |
|
|
|
|
|
|
|
|
|
| Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of <i>SERPINH1</i> in siblings with a moderate form of osteogenesis imperfecta |
|
|
|
|
|
|
|
|
|
| CRISPR Gene Editing Successfully Treats Lethal Monogenic Lung Disease in Utero |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| New Gene Therapy Potential Cure for “Bubble Boy Disease”: An experimental gene therapy has allowed children with SCID‐1X to develop fully functioning immune systems |
|
|
|
|
|
|
|
|
|
| Refining the phenotype of the <i>THG1L</i> (p.Val55Ala mutation)‐related mitochondrial autosomal recessive congenital cerebellar ataxia |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jewish |
| Clinical features and mutational analysis in 114 young children with Wilson disease from South China |
|
|
|
|
|
|
|
|
|
| Sensitive detection of <i>FGFR1 N546K</i> mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma |
|
|
|
|
|
|
|
|
|
| Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers |
|
|
|
|
|
|
|
|
|
| The α2 chain of type IX collagen is essential for type IX collagen biosynthesis |
|
|
|
|
|
|
|
|
|
| PIGQ glycosylphosphatidylinositol‐anchored protein deficiency: Characterizing the phenotype |
|
|
|
|
|
|
|
|
|
| A heterozygous, intragenic deletion of <i>CNOT2</i> recapitulates the phenotype of 12q15 deletion syndrome |
|
|
|
|
|
|
|
|
|
| <i>RAF1</i> variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis |
|
|
|
|
|
|
|
|
|
| Splice variant in <i>ARX</i> leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy |
|
|
|
|
|
|
|
|
|
| Onward and upward |
|
|
|
|
|
|
|
|
|
| Noninvasive diagnosis of <i>TRIT1</i>‐related mitochondrial disorder by measuring i<sup>6</sup>A37 and ms<sup>2</sup>i<sup>6</sup>A37 modifications in tRNAs from blood and urine samples |
|
|
|
|
|
|
|
|
|
| Tuberous sclerosis in a patient from Nigeria |
|
|
|
|
|
|
✓ |
✓ |
sub‐Saharan Africa; black African ancestry; Nigerian |
| 16q22.1 microdeletion and anticipatory guidance |
|
|
|
|
|
|
|
|
|
| Psychological well‐being in patients with aneurysms‐osteoarthritis syndrome |
|
|
|
|
|
|
|
|
|
| POGZ‐related epilepsy: Case report and review of the literature |
|
|
|
|
|
|
|
|
|
| Pathogenic homozygous variations in <i>ACTL6B</i> cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination |
|
|
|
|
|
|
|
|
|
| An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry |
|
|
|
|
|
|
|
|
|
| Genetic variants in the <i>KDM6B</i> gene are associated with neurodevelopmental delays and dysmorphic features |
|
|
|
|
|
|
|
|
|
| Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with <i>TFG</i> mutation |
|
|
|
|
|
|
✓ |
✓ |
Iranian |
| Muenke syndrome: Medical and surgical comorbidities and long‐term management |
|
|
|
|
|
|
|
|
|
| Familial aggregation of “apple peel” intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with <i>NOTCH1</i> gene mutations |
|
|
|
|
|
|
|
|
|
| Gonosomal versus somatogonadal mosaicism: What is in a name? |
|
|
|
|
|
|
|
|
|
| Incontinentia pigmenti in adults |
|
|
|
|
|
|
|
|
|
| Loss of function <i>BMP4</i> mutation supports the implication of the BMP/TGF‐β pathway in the etiology of combined pituitary hormone deficiency |
|
|
|
|
|
|
|
|
|
| A novel biallelic loss‐of‐function mutation in <i>TMCO1</i> gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia |
|
|
|
|
|
|
✓ |
✓ |
an Arab community in Israel |
| Biallelic variant in <i>AGTPBP1</i> causes infantile lower motor neuron degeneration and cerebellar atrophy |
|
|
|
|
|
|
|
|
|
| Expansion of the clinical spectrum associated with <i>AARS2</i>‐related disorders |
|
|
|
|
|
|
|
|
|
| Hereditary spastic paraplegia type 35 in a family from Mali |
|
|
|
|
|
|
✓ |
✓ |
African; family from Mali; population with different background; diverse populations |
| Homozygous Type IX collagen variants (<i>COL9A1</i>, <i>COL9A2</i>, and <i>COL9A3</i>) causing recessive Stickler syndrome—Expanding the phenotype |
|
|
|
|
|
|
|
|
|
| Biallelic human <i>ITCH</i> variants causing a multisystem disease with dysmorphic features: A second report |
|
|
|
|
|
|
|
|
|
| Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study |
|
|
|
|
|
|
|
|
|
| Speech difficulties and patient health communication mediating effects on worry and health‐related quality of life in children, adolescents, and young adults with Neurofibromatosis Type 1 |
|
|
|
|
|
|
|
|
|
| Acromesomelic dysplasia Maroteaux‐type in patients from Vietnam |
|
|
|
|
|
|
|
|
|
| Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders |
|
|
|
|
|
|
|
|
|
| Transient <i>N</i>‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I |
|
|
|
|
|
|
|
|
|
| Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within <i>FOXF1</i> |
|
|
|
|
|
|
|
|
|
| A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy |
|
|
|
|
|
|
|
|
|
| Phenotypic spectrum of <i>ALPK3</i>‐related cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Pain in hypermobile Ehlers‐Danlos syndrome: New insights using new criteria |
|
|
|
|
|
|
|
|
|
| Homozygous variants in the gene <i>SCAPER</i> cause syndromic intellectual disability |
|
|
|
|
|
|
|
|
|
| Cycloid Psychosis Comorbid with Prader–Willi Syndrome: A Case Series |
|
|
|
|
|
|
|
|
|
| Review of the phenotypic spectrum associated with haploinsufficiency of <i>MYRF</i> |
|
|
|
|
|
|
|
|
|
| The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome |
|
|
|
|
|
|
|
|
|
| Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome |
|
|
|
|
|
|
|
|
|
| Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome |
|
|
|
|
|
|
|
|
|
| First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma |
|
|
|
|
|
|
|
|
|
| Clinical and molecular spectrum of CHOPS syndrome |
|
|
|
|
|
|
|
|
|
| <i>SLC18A3</i> variants lead to fetal akinesia deformation sequence early in pregnancy |
|
|
|
|
|
|
|
|
|
| Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate |
|
|
|
|
|
|
|
|
|
| Intestinal lymphangiectasia—A novel finding in Van Maldergem syndrome challenging the role of lymphedema for the distinction from Hennekam syndrome |
|
|
|
|
|
|
|
|
|
| Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving <i>PTEN</i> and <i>BMPR1A</i> |
|
|
|
|
|
|
|
|
|
| Expansions and contractions of the <i>FMR1</i> CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles |
|
|
|
|
|
|
|
|
|
| <i>WNT10B</i> variants in split hand/foot malformation: Report of three novel families and review of the literature |
|
|
|
|
|
|
|
|
|
| Schimke immunoosseous dysplasia and management considerations for vascular risks |
|
|
|
|
|
|
|
|
|
| Palatal evaluation and treatment in 22q11.2 deletion syndrome |
|
✓ |
|
|
|
|
|
|
|
| Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders |
|
|
|
|
|
|
|
|
|
| Sleep‐disordered breathing in children with mucolipidosis |
|
|
|
|
|
|
|
|
|
| Therapeutic Target Identified for Slowing Early Atherosclerosis in Progeria: Researchers have identifi ed a new molecular mechanism involved in the premature development of atherosclerosis in progeria |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 6, June 2019 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 6, June 2019 |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Top Scientists Argue for Moratorium on Human Germline Editing |
|
|
|
|
|
|
|
|
|
| Male CDPX2 patient with <i>EBP</i> mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation |
|
|
|
|
|
|
|
|
|
| Neurofibromatosis type 1 of the child increases birth weight |
|
|
|
|
|
|
|
|
|
| Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva |
|
|
|
|
|
|
|
|
|
| A novel missense mutation in <i>TFAP2B</i> associated with Char syndrome and central diabetes insipidus |
|
|
|
|
|
|
|
|
|
| A novel de novo <i>PDGFRB</i> variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| Largest Description of ST3GAL5 (GM3 synthase) Deficiency May Provide Baseline for Future Therapies: Detailed natural history data combined with objective measures of tissue function was used to create |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 5, May 2019 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 5, May 2019 |
|
|
|
|
|
|
|
|
|
| Endocannabinoid System Involved in Cognitive Disorders in Mouse Models of Down Syndrome |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome |
|
|
|
|
|
|
|
|
|
| Autosomal recessive Treacher Collins syndrome due to <i>POLR1C</i> mutations: Report of a new family and review of the literature |
|
|
|
|
|
|
|
|
|
| TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation |
|
|
|
|
|
|
|
|
|
| Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with <i>SOX2</i>‐anophthalmia syndrome |
|
|
|
|
|
|
|
|
|
| Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome |
|
✓ |
|
|
|
|
✓ |
✓ |
Caucasian |
| Factors related to survival discharge in trisomy 18: A retrospective multicenter study |
|
|
|
|
|
|
|
|
|
| Variants in the transcriptional corepressor <i>BCORL1</i> are associated with an X‐linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities |
|
|
|
|
|
|
|
|
|
| PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review |
|
|
|
|
|
|
|
|
|
| Maladaptive behaviors in individuals with Angelman syndrome |
|
|
|
|
|
|
|
|
|
| Distal arthrogryposis type 5 and <i>PIEZO2</i> novel variant in a Canadian family |
|
|
|
|
|
|
|
|
|
| Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents |
|
|
|
|
|
|
|
|
|
| The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature |
|
|
|
|
|
|
|
|
|
| Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature |
|
|
|
|
|
|
|
|
|
| Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review |
|
|
|
|
|
|
|
|
|
| Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile |
|
|
|
|
|
|
|
|
|
| Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study |
|
|
|
|
|
|
|
|
|
| Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience |
|
|
|
|
|
|
|
|
|
| Introducing in <i>AJMG Part A</i>: Genetic Syndromes in Adults |
|
|
|
|
|
|
|
|
|
| Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia |
|
|
|
|
|
|
|
|
|
| Inferring parental gonadal mosaicism in <i>LMNA</i>‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling |
|
|
|
|
|
|
|
|
|
| Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil |
|
|
|
|
|
|
|
|
|
| PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of <i>PUM1</i> |
|
|
|
|
|
|
|
|
|
| From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis |
|
|
|
|
|
|
|
|
|
| Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network |
|
|
|
|
|
|
|
|
|
| Orofacial clefts in California: No decline in Alberta, Canada |
|
|
|
|
|
|
|
|
|
| A Japanese patient with <i>RAD51</i>‐associated Fanconi anemia |
|
|
|
|
|
|
✓ |
✓ |
Japanese; Asian |
| First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics |
|
|
|
|
|
|
|
|
|
| A novel pathogenic variant in <i>OFD1</i> results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia |
|
|
|
|
|
|
|
|
|
| 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of <i>FLI1</i>, <i>ETS1,</i> and <i>SENCR</i> long noncoding RNA |
|
|
|
|
|
|
|
|
|
| Ptosis as a unique hallmark for autosomal recessive <i>WNT1</i>‐associated osteogenesis imperfecta |
|
|
|
|
|
|
|
|
|
| Height growth velocity during infancy and childhood in achondroplasia |
|
|
|
|
|
|
|
|
|
| Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of <i>CREBBP</i> |
|
|
|
|
|
|
|
|
|
| A de novo mutation in DHD domain of <i>SKI</i> causing spina bifida with no craniofacial malformation or intellectual disability |
|
|
|
|
|
|
|
|
|
| The burden of rare diseases |
|
|
|
|
|
|
|
|
|
| Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 4, April 2019 |
|
|
|
|
|
|
|
|
|
| Structural Basis Identified for Cholesterol Transport‐Like Activity of the Hedgehog Receptor Patched: New evidence suggests that the Hedgehog receptor Patched may mediate cholesterol removal from the |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| Genomic Screening in Newborns Holds Promise, Challenges: Results of the BabySeq Project demonstrate the potential of newborn genomic screening, but challenges remain |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 4, April 2019 |
|
|
|
|
|
|
|
|
|
| Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Acute leukemia in a patient with 15q overgrowth syndrome |
|
|
|
|
|
|
|
|
|
| Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients |
|
|
|
|
|
|
|
|
|
| First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of <i>SLC12A6</i> gene |
|
|
|
|
|
|
✓ |
✓ |
Roma ethnic origin; Roma origin; Roma individuals; French Canadians |
| <i>CHRNG</i>‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings |
|
|
|
|
|
|
|
|
|
| Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency |
|
|
|
|
|
|
|
|
|
| Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor |
|
|
|
|
|
|
|
|
|
| SATB2‐associated syndrome in patients from Japan: Linguistic profiles |
|
|
|
|
|
|
|
|
|
| Patient with anomalous skin pigmentation expands the phenotype of <i>ARID2</i> loss‐of‐function disorder, a SWI/SNF‐related intellectual disability |
|
|
|
|
|
|
|
|
|
| Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis |
|
|
|
|
|
|
|
|
|
| Female‐restricted syndromic intellectual disability in a patient from Thailand |
|
|
|
|
|
|
|
|
|
| Identification of a deletion containing <i>TBX4</i> in a neonate with acinar dysplasia by rapid exome sequencing |
|
|
|
|
|
|
|
|
|
| Parents' perspective on having a child with Down Syndrome in France |
|
|
|
|
|
|
|
|
|
| Cardiac valvular Ehlers‐Danlos syndrome is a well‐defined condition due to recessive <i>null</i> variants in <i>COL1A2</i> |
|
|
|
|
|
|
|
|
|
| Managing the need to tell: Triggers and strategic disclosure of thalassemia major in Singapore |
|
|
|
|
|
|
|
|
|
| Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of <i>IL11RA</i> variant population frequencies in a Crouzon‐like autosomal recessive syndrome |
|
|
|
|
|
✓ |
|
|
Non‐Finnish Europeans (similar to ethnicity of this family) |
| Identification of a novel homozygous variant confirms <i>ITPA</i> as a developmental and epileptic encephalopathy gene |
|
|
|
|
|
|
|
|
|
| A 2q24.2 microdeletion containing <i>TANK</i> as novel candidate gene for intellectual disability |
|
|
|
|
|
|
|
|
|
| Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease |
|
|
|
|
|
|
|
|
|
| A De novo <i>HDAC2</i> variant in a patient with features consistent with Cornelia de Lange syndrome phenotype |
|
|
|
|
|
|
|
|
|
| <i>EED</i> and <i>EZH2</i> constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome |
|
|
|
|
|
|
|
|
|
| Okamoto syndrome has features overlapping with Au–Kline syndrome and is caused by HNRNPK mutation |
|
|
|
|
|
|
|
|
|
| The Society for Craniofacial Genetics and Developmental Biology 41st Annual Meeting |
|
|
|
|
|
|
|
|
|
| Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome |
|
|
|
|
|
|
|
|
|
| Klippel–Feil syndrome as a novel feature of Schimke immunoosseous dysplasia |
|
|
|
|
|
|
|
|
|
| Retinoic acid receptor beta variant‐related colonic hypoganglionosis |
|
|
|
|
|
|
|
|
|
| NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes |
|
|
|
|
|
|
|
|
|
| Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome |
|
|
|
|
|
|
|
|
|
| Homozygous variant in <i>OTX2</i> and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment |
|
|
|
|
|
|
|
|
|
| Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy |
|
|
|
|
|
|
|
|
|
| ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome |
|
|
|
|
|
|
|
|
|
| First Risk Genes Identified for Attention Deficit Hyperactivity Disorder: An international collaboration has for the fi rst time identifi ed genetic variants that increase the risk of ADHD |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 3, March 2019 |
|
|
|
|
|
|
|
|
|
| Neural Response to Language in Toddlers with Autism Associated with Altered Gene Expression: Widespread and coordinated patterns of gene expression activity in leukocytes was linked to neural response |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 3, March 2019 |
|
|
|
|
|
|
|
|
|
| <i>CNOT2</i> as the critical gene for phenotypes of 12q15 microdeletion syndrome |
|
|
|
|
|
|
|
|
|
| Corrigendum to “The human phenotype of ornithine decarboxylase superactivity: a new syndrome” |
|
|
|
|
|
|
|
|
|
| Mutations in <i>IFT80</i> cause SRPS Type IV. Report of two families and review |
|
|
|
|
|
|
|
|
|
| Xq22.3q23 microdeletion harboring <i>TMEM164</i> and <i>AMMECR1</i> genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptoc |
|
|
|
|
|
|
|
|
|
| Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of <i>CREBBP</i> |
|
|
|
|
|
|
|
|
|
| Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1 |
|
|
|
|
|
|
|
|
|
| Exome sequencing reveals a novel <i>COL2A1</i> mutation implicated in multiple epiphyseal dysplasia |
|
|
|
|
|
|
|
|
|
| Congenital clubfoot in Europe: A population‐based study |
|
|
|
|
|
|
|
|
in Europe; Europe; EUROCAT network (European registries) |
| 39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting |
|
|
|
|
|
|
|
|
|
| De novo <i>DDX3X</i> missense variants in males appear viable and contribute to syndromic intellectual disability |
|
|
|
|
|
|
|
|
|
| Beckwith–Wiedemann syndrome in diverse populations |
|
✓ |
|
|
|
|
✓ |
✓ |
"Caucasian, Mixed, and non‐Caucasian groups", "racial and ethnic backgrounds", "race/ethnicity group |
| Isolated vocal cord paralysis in two siblings with compound heterozygous variants in <i>MUSK</i>: Expanding the phenotypic spectrum |
|
|
|
|
|
|
|
|
|
| Hyperinsulinemic hypoglycemia in seven patients with de novo <i>NSD1</i> mutations |
|
|
|
|
|
|
|
|
|
| Revealing the functions of novel mutations in <i>RAB3GAP1</i> in Martsolf and Warburg micro syndromes |
|
|
|
|
|
|
✓ |
✓ |
Turkish |
| Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway |
|
|
|
|
|
|
|
|
|
| Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders |
|
|
|
|
|
|
|
|
|
| A case of broken bones and systems: The threat of irresponsible testimony |
|
|
|
|
|
|
|
|
|
| Growth failure in focal dermal hypoplasia |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder |
|
|
|
|
|
|
|
|
|
| POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann‐Rautenstrauch Syndrome: New findings show “compelling evidence” that POLR3A mutations underlie the etiology of autosomal‐recessive WR |
|
|
|
|
|
|
|
|
|
| De Novo Mutations have Variable Recurrences Within Families |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 2, February 2019 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 179A, Number 2, February 2019 |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization |
|
✓ |
|
|
|
|
|
|
|
| Schuurs‐Hoeijmakers syndrome in a patient from India |
|
|
|
|
|
|
|
|
|
| The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype |
|
|
|
|
|
|
|
|
|
| Prevalence and risk factors for Down syndrome: A hospital‐based single‐center study in Western Mexico |
|
|
|
|
|
|
|
|
|
| Simpson–Golabi–Behmel syndrome with 46,XY disorders of sex development: A case report |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Table of Contents, Volume 179A, Number 1, January 2019 |
|
|
|
|
|
|
|
|
|
| Gene Editing Successfully Corrects 2 Amino Acid Disorders: In 2 preclinical studies using CRISPR‐mediated gene editing, phenylketonuria and hereditary tyrosinemia type 1 were corrected |
|
|
|
|
|
|
|
|
|
| The UK Sets Goal for Sequencing 5 Million Genomes in 5 Years |
|
|
|
|
|
|
|
|
|
| In This Issue |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2019 |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 179A, Number 1, January 2019 |
|
|
|
|
|
|
|
|
|
| A case of early‐onset epileptic encephalopathy with a homozygous <i>TBC1D24</i> variant caused by uniparental isodisomy |
|
|
|
|
|
|
|
|
|
| Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2 |
|
|
|
|
|
|
|
|
|
| Congenital central hypoventilation syndrome: Severe disease caused by co‐occurrence of two <i>PHOX2B</i> variants inherited separately from asymptomatic family members |
|
|
|
|
|
|
|
|
|
| ALG11‐CDG syndrome: Expanding the phenotype |
|
|
|
|
|
|
|
|
|
| Early demise of twins in a cohort of stillbirths and second trimester miscarriages |
|
|
|
|
|
|
|
|
|
| Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII |
|
|
|
|
|
|
|
|
|
| Homozygous/compound heterozygote <i>RYR1</i> gene variants: Expanding the clinical spectrum |
|
|
|
|
|
|
|
|
|
| Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome |
|
|
|
|
|
|
|
|
|
| Solid tumor screening recommendations in trisomy 18 |
|
|
|
|
|
|
|
|
|
| Phenotypic spectrum of <i>NDE1</i>‐related disorders: from microlissencephaly to microhydranencephaly |
|
|
|
|
|
|
|
|
|
| Abnormal bone mineral content and density in people with tetrasomy 18p |
|
|
|
|
|
|
|
|
|
| Refining the Primrose syndrome phenotype: A study of five patients with <i>ZBTB20 de novo</i> variants and a review of the literature |
|
|
|
|
|
|
|
|
|
| The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy |
|
|
|
|
|
|
|
|
|
| 22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex |
|
|
|
|
|
|
|
|
|
| High‐level language competencies and Theory of Mind in a group of children with Klinefelter syndrome |
|
|
|
|
|
|
|
|
|
| Use of prescription opioid and other drugs among a cohort of persons with Ehlers–Danlos syndrome: A retrospective study |
|
|
|
|
|
|
|
|
|
| A maternally inherited frameshift <i>CDKL5</i> variant in a male with global developmental delay and late‐onset generalized epilepsy |
|
|
|
|
|
|
|
|
|
| Cornelia de Lange syndrome in diverse populations |
|
✓ |
|
|
|
|
✓ |
✓ |
African descent; Asian; Latin American; Middle Eastern |