Showing results 1 to 10 from more than 300,000 results:

Novo Mutations: Top KOLs in the world

Evan E Eichler #1
Evan E Eichler
Howard Hughes Medical Institute; Chevy Chase, MD, USA | Brot
Known for Intellectual Disability |  Novo Mutations |  Structural Variation |  Human Genome |  Segmental Duplications
Mark J Daly #2
Mark J Daly
Program in Medical and Population Genetics, Broad Institute
Known for Type 2 Diabetes |  Ulcerative Colitis |  Inflammatory Bowel Disease |  Genetic Variation |  Multiple Sclerosis

Stacey Bolk Gabriel #3
Stacey Bolk Gabriel
The Broad Institute of MIT and Harvard, Cambridge, MA, USA,
Known for Exome Sequencing |  Myocardial Infarction |  Type 2 Diabetes |  African Americans |  Chronic Lymphocytic Leukemia
Jay A Shendure #4
Jay A Shendure
Brotman Baty Institute for Precision Medicine, Seattle WA, U
Known for Gene Expression |  Single Cells |  Exome Sequencing |  Washington State |  Human Genome
Joris A Veltman #5
Joris A Veltman
Faculty of Medical Sciences, Biosciences Institute, Newcastl
Known for Mental Retardation |  Male Infertility |  Intellectual Disability |  Exome Sequencing |  Novo Mutations
Deborah A Nickerson #6
Deborah A Nickerson
Department of Genome Sciences, University of Washington, Sea
Known for Exome Sequencing |  Genetic Variation |  Washington State |  Rare Variants |  African Americans
Brian J O'Roak #7
Brian J O'Roak
Department of Molecular and Medical Genetics, Oregon Health
Known for Novo Mutations |  Joubert Syndrome |  Autism Spectrum Disorder |  Epileptic Encephalopathies |  Exome Sequencing
Mark A DePristo #8
Mark A DePristo
Google Research, Cambridge, MA, USA | BigHat Biosciences, Sa
Known for Rare Variants |  Genome Analysis Toolkit |  Genetic Variation |  Deep Learning |  Type 2 Diabetes
Han G Brunner #9
Han G Brunner
Department of Human Genetics, Radboud University Medical Cen
Known for Myotonic Dystrophy |  Novo Mutations |  Mental Retardation |  Human Pair |  Intellectual Disability
Benjamin M Neale #10
Benjamin M Neale
Analytic and Translational Genetics Unit, Department of Medi
Known for Genetic Architecture |  Complex Traits |  Psychiatric Disorders |  Rare Variants |  Genome Wide