Kathryn Friend

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld et al. · Nature Genetics · 2014 · 758 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 674 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

Christopher N Hahn, Chan‐Eng Chong, Catherine Carmichael et al. · Nature Genetics · 2011 · 601 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M. Dibbens, Patrick Tarpey, Kim Hynes et al. · Nature Genetics · 2008 · 450 citations · Full text

Medicine, Genetics, Molecular Genetics +15