Patricia A. Eng

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

Insertional translocation detected using FISH confirmation of array‐comparative genomic hybridization (aCGH) results

Sung‐Hae Kang, Chad A. Shaw, Zhishuo Ou et al. · American Journal of Medical Genetics Part A · 2010 · 166 citations

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Sandesh C. Sreenath Nagamani, Ayelet Erez, Patricia I. Bader et al. · European Journal of Human Genetics · 2010 · 118 citations

Life Sciences, Genetics, Molecular Genetics +16

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

Christian P. Schaaf, Philip M. Boone, Srirangan Sampath et al. · European Journal of Human Genetics · 2012 · 118 citations

Life Sciences, Genetics, Molecular Genetics +14

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani et al. · Human Molecular Genetics · 2011 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16