Elaine H. Zackai

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson et al. · Nature Genetics · 2002 · 901 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer et al. · New England Journal of Medicine · 2011 · 887 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta et al. · Human Molecular Genetics · 1999 · 613 citations

Medicine, Molecular Genetics, Oncology +17

Frequency of 22q11 deletions in patients with conotruncal defects

Elizabeth Goldmuntz, Bernard J. Clark, Laura E. Mitchell et al. · Journal of the American College of Cardiology · 1998 · 589 citations · Full text

Medicine, Cardiology, Genetics +15