Robin D. Clark

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Jan O. Korbel, Tal Tirosh‐Wagner, Alexander E. Urban et al. · Proceedings of the National Academy of Sciences · 2009 · 397 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Shinya Yamamoto, Manish Jaiswal, Wu‐Lin Charng et al. · Cell · 2014 · 396 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Regina Ensenauer, Adewale Adeyinka, Heather C. Flynn et al. · The American Journal of Human Genetics · 2003 · 381 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst et al. · American Journal of Medical Genetics Part A · 2014 · 312 citations · Full text

Medicine, Pathology, Pediatrics +16

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling et al. · The American Journal of Human Genetics · 2012 · 271 citations · Full text

Life Sciences, Genetics, Molecular Biology +10