A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities

Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders

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Expanding the genetic heterogeneity of intellectual disability

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

(2015) Gunnar Houge et al.   JOURNAL OF CLINICAL INVESTIGATION

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Determinants of Mutation Rate Variation in the Human Germline

(2014) Laure Ségurel et al.   Annual Review of Genomics and Human Genetics

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

(2014) Anand K. Srivastava et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Subtype-specific mutation of PPP2R1A in endometrial and ovarian carcinomas

(2011) Melissa K McConechy et al.   JOURNAL OF PATHOLOGY