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Publications in Genetics

2012 ASHG Awards and Addresses

American Journal of Human Genetics
Genetics
2013English

This Month in the Journal

American Journal of Human Genetics
Genetics
2018English

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

American Journal of Human Genetics
Genetics
2016English

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics
Genetics
2013English

Synthesis of Fluorescent D-Amino Acids and Their Use for Probing Peptidoglycan Synthesis and Bacterial Growth in Situ

Nature Protocols
BiochemistryGeneticsMolecular Biology
2014English

eXclusion: Toward Integrating the X Chromosome in Genome-Wide Association Analyses

American Journal of Human Genetics
Genetics
2013English

Large-Scale Identification of Ubiquitination Sites by Mass Spectrometry

Nature Protocols
BiochemistryGeneticsMolecular Biology
2013English

2015 Victor A. McKusick Leadership Award1

American Journal of Human Genetics
Genetics
2016English

Leveraging Functional-Annotation Data in Trans-Ethnic Fine-Mapping Studies

American Journal of Human Genetics
Genetics
2015English

Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

American Journal of Human Genetics
Genetics
2016English
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