L.G. Shaffer

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

HA Heilstedt, B. C. Ballif, L. T. Howard et al. · Clinical Genetics · 2003 · 145 citations

Life Sciences, Genetics, Molecular Genetics +17

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

Justine Coppinger, Donna M. McDonald‐McGinn, E. Zackai et al. · Human Molecular Genetics · 2009 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

B. C. Ballif, Aaron Theisen, DM McDonald‐McGinn et al. · Clinical Genetics · 2008 · 86 citations

Life Sciences, Genetics, Molecular Genetics +17

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

Jill A. Rosenfeld, Kyae Hyung Kim, Brad Angle et al. · Molecular Syndromology · 2012 · 46 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions

Ryan N. Traylor, William B. Dobyns, Jill A. Rosenfeld et al. · Molecular Syndromology · 2012 · 33 citations · Full text

Medicine, Genetics, Molecular Genetics +17