Amber N. Pursley

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 reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Marwan Shinawi, P. Liu, Sung Hae L. Kang et al. · Journal of Medical Genetics · 2009 · 601 citations

Life Sciences, Genetics, Molecular Genetics +17

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Ian M. Campbell, Bo Yuan, Caroline Robberecht et al. · The American Journal of Human Genetics · 2014 · 280 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

Ignatia B. Van den Veyver, Ankita Patel, Chad A. Shaw et al. · Prenatal Diagnosis · 2008 · 266 citations

Life Sciences, Genetics, Obstetrics +17

Detection of clinically relevant exonic copy-number changes by array CGH

Philip M. Boone, Carlos A. Bacino, Chad A. Shaw et al. · Human Mutation · 2010 · 240 citations

Life Sciences, Genetics, Molecular Genetics +16