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View article: De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction Open
NPTN encodes human neuroplastin (hNp), a subunit of plasma membrane Ca 2+ -ATPases (PMCA). The critical importance of hNp and its associations with PMCA are unknown for the human brain. Here, we describe de novo NPTN variants in…
View article: Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition Open
View article: Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder Open
Our results establish XPO1 as a novel dominant monogenic neurodevelopmental disorder gene and demonstrate a central role for XPO1 in development.
View article: Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition Open
Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SNF2H ( SMARCA5 ) or SNF2L ( SMARCA1 ) ISWI-chromatin remodel…
View article: Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein Open
View article: Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein Open
View article: Missense variants in <i>ANKRD11</i> cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
Missense variants in <i>ANKRD11</i> cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein Open
Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized the clinical, molecular and functional sp…
View article: Issue Information
Issue Information Open
View article: Evaluation and classification of severity for 176 genes on an expanded carrier screening panel
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel Open
Background Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity ca…
View article: WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects: HUMAN MUTATION
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects: HUMAN MUTATION Open
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, whic…
View article: Evaluation and classification of severity for 176 genes on an expanded carrier screening panel
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel Open
Background Severity is an important factor for inclusion of diseases on expanded carrier screening (ECS) panels. Here, we applied a validated algorithm that objectively classifies diseases into severity categories to 176 genes on a clinica…
View article: Cover Image, Volume 176A, Number 4, April 2018
Cover Image, Volume 176A, Number 4, April 2018 Open
The cover image, by Yuri A. Zarate et al., is based on the Original Article Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome, DOI: 10.1002/ajmg.a.38630
View article: <i>WRN</i> Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
<i>WRN</i> Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects Open
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, whic…