Patricia I. Bader

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan et al. · Nature Genetics · 2011 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 635 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan et al. · Genetics in Medicine · 2010 · 241 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene Biosynthesis

Georg F. Hoffmann, K. Michael Gibson, Ira K. Brandt et al. · New England Journal of Medicine · 1986 · 200 citations

Life Sciences, Biochemistry, Cellular Metabolism +7

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio et al. · The American Journal of Human Genetics · 2013 · 193 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11