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 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Identifying facial phenotypes of genetic disorders using deep learning

Yaron Gurovich, Yair Hanani, Omri Bar et al. · Nature Medicine · 2018 · 732 citations

Medicine, Genetics, Molecular Genetics +16

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

Rajiv K. Khajuria, Mathias Munschauer, Jacob C. Ulirsch et al. · Cell · 2018 · 432 citations · Full text

Life Sciences, Hematology, Molecular Biology +16

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

Dentistry, Genetics, Molecular Genetics +16

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 · 393 citations

Life Sciences, Developmental Biology, Genetics +14