Karen W. Gripp

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

Identifying facial phenotypes of genetic disorders using deep learning

Yaron Gurovich, Yair Hanani, Omri Bar et al. · Nature Medicine · 2018 · 698 citations

Genetics, Facial Recognition System, Deep Learning

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

Rajiv K. Khajuria, Mathias Munschauer, Jacob C. Ulirsch et al. · Cell · 2018 · 414 citations · Full text

Medicine, Genetics, Lineage Commitment +5

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Maximilian Muenke, Karen W. Gripp, Donna M. McDonald‐McGinn et al. · PubMed · 1997 · 394 citations

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Karen W. Gripp, David Wotton, Michael C. Edwards et al. · Nature Genetics · 2000 · 390 citations

Developmental Biology, Molecular Neuroscience, Neurogenomics +11