Clinical application of whole-exome sequencing across clinical indications

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Genetics in Medicine

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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari, +74

Nature Genetics

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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi Tanaka, Megan T. Cho, Francisca Millan, +20

The American Journal of Human Genetics

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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Emma Tham, Anna Lindstrand, Avni Santani, +9

The American Journal of Human Genetics

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Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, +13

JAMA

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

D T Burns, Sandra Donkervoort, Juliane Müller, +27

The American Journal of Human Genetics

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Peter Huppke, Joseph A. Church, Rhonda E. Schnur, +13

Nature Communications

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

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, +28

Genetics in Medicine

De novo <i>POGZ</i> mutations are associated with neurodevelopmental disorders and microcephaly

Yizhou Ye, Megan T. Cho, Kyle Retterer, +14

Molecular Case Studies

Brain DevelopmentGeneticsMolecular GeneticsEpigeneticsDevelopmental Neuroscience +16