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Publications by David A. Koolen

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

American Journal of Human Genetics

English

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications

Molecular Biology

English

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children With Cancer

Clinical Cancer Research

Cancer Research

English

Holoprosencephaly and Preaxial Polydactyly Associated With a 1.24 Mb Duplication Encompassing FBXW11 at 5q35.1

Journal of Human Genetics

English

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