Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 987 citations

Life Sciences, Genetics, Molecular Genetics +12

A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome

Kendy K. Y. Wong, Ronald J. deLeeuw, Nirpjit S. Dosanjh et al. · The American Journal of Human Genetics · 2006 · 522 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A Set of Consensus Mammalian Mediator Subunits Identified by Multidimensional Protein Identification Technology

Shigeo Sato, Chieri Tomomori‐Sato, Tari Parmely et al. · Molecular Cell · 2004 · 309 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

Twila M. Yobb, Martin J. Somerville, Lionel Willatt et al. · The American Journal of Human Genetics · 2005 · 259 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Hiba Risheg, John M. Graham, Robin D. Clark et al. · Nature Genetics · 2007 · 195 citations

Life Sciences, Genetics, Molecular Genetics +5