Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola, +82

The American Journal of Human Genetics

Unexplained Intellectual DisabilityGender-specific EffectsMendelian DisorderGenetic DisorderGenetics +8

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, +99

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification +3

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, +57

JCI Insight

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Michael D. Fountain, Emmelien Aten, Megan T. Cho, +35

Genetics in Medicine

Schaaf-yang SyndromeAutoimmune DiseaseGenetic DisorderPediatricsPathology +6

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, +30

The American Journal of Human Genetics

Facial DysmorphismGenetic DisorderCause Intellectual DisabilityGeneticsMolecular Genetics +3

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain, David S. Oleson, Megan Rech, +53

Genetics in Medicine

De novo mutations in <i>PURA</i> are associated with hypotonia and developmental delay

Akemi Tanaka, Renkui Bai, Megan T. Cho, +11

Molecular Case Studies

Brain DevelopmentGeneticsGenomic MechanismMolecular GeneticsDisease Gene Identification +18

De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

Emily Webster, Megan T. Cho, Nora Alexander, +7

Molecular Case Studies

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Francesca Mattioli, Élise Schaefer, Alex Magee, +13

The American Journal of Human Genetics

ChromatinMendelian DisorderGenetic DisorderAssociated PtosisGenetics +5

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Bobby G. Ng, Paulina Sosicka, Satish Agadi, +65

Human Mutation

ImmunologyGlycobiologyMolecular BiologyGenetic EpidemiologyPathology +23