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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism

American Journal of Human Genetics
Genetics
2019English

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism

American Journal of Human Genetics
Genetics
2019English

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American Journal of Human Genetics
Genetics
2019English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics
Genetics
2019English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics
Genetics
2020English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics
Genetics
2019English

De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies

European Journal of Human Genetics
Genetics
2018English

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

American Journal of Human Genetics
Genetics
2019English

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

American Journal of Human Genetics
Genetics
2019English

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