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Publications by I. Karen Temple

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Molecular Biology

English

Growth Disrupting Mutations in Epigenetic Regulatory Molecules Are Associated With Abnormalities of Epigenetic Aging

Genome Research

English

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

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

American Journal of Human Genetics

English

A Syndromic Form of Pierre Robin Sequence Is Caused by 5q23 Deletions Encompassing FBN2 and PHAX

European Journal of Medical Genetics

English

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

American Journal of Human Genetics

English