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Publications by David R. FitzPatrick
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
American Journal of Human Genetics
Genetics
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
The Genetic Architecture of Aniridia and Gillespie Syndrome
Human Genetics
Genetics
A Syndromic Form of Pierre Robin Sequence Is Caused by 5q23 Deletions Encompassing FBN2 and PHAX
European Journal of Medical Genetics
Medicine
Genetics
Integrating Healthcare and Research Genetic Data Empowers the Discovery of 49 Novel Developmental Disorders
Mutations in SOX2 Cause Anophthalmia
Nature Genetics
Genetics
