Marie McDonald

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 674 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Clinical application of exome sequencing in undiagnosed genetic conditions

Anna C. Need, Vandana Shashi, Yuki Hitomi et al. · Journal of Medical Genetics · 2012 · 437 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Blake C. Ballif, Aaron Theisen, Justine Coppinger et al. · Molecular Cytogenetics · 2008 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Vandana Shashi, Allyn McConkie‐Rosell, Bruce Rosell et al. · Genetics in Medicine · 2013 · 293 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Timothy W. Yu, Ganeshwaran H. Mochida, David J. Tischfield et al. · Nature Genetics · 2010 · 286 citations · Full text

Life Sciences, Genetics, Neuroscience +15