Suneeta Madan‐Khetarpal

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 · 303 citations · Full text

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

Blake C. Ballif, Sara A. Hornor, Elizabeth S. Jenkins et al. · Nature Genetics · 2007 · 250 citations

Genetic Disorder, Medicine, Genetics +4

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 155 citations · Full text

Pulmonary Circulation, Vascular Malformation, Pathology +4

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

Hirotaka Tao, J. Robert Manak, Levi P. Sowers et al. · The American Journal of Human Genetics · 2011 · 146 citations · Full text

Molecular Neuroscience, Allergy, Genetics +5

Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill et al. · Human Mutation · 2012 · 101 citations · Full text

Brain Development, Genetics, Language Development +21