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 · 975 citations

Neurodegenerative Diseases, Recessive Cognitive Disorders, Genetic Disorder +6

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 · 521 citations · Full text

Medicine, Genetics, Evolutionary Biology +10

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 · 306 citations · Full text

Protein Function, Protein Folding, Medicine +12

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 · 254 citations · Full text

Highly Variable Syndrome, Medicine, Genetics +6

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 · 192 citations

Recurrent Mutation, Genetic Disorder, Genetics +4