GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Copy number variation detection and genotyping from exome sequence data

Niklas Krumm, Peter H. Sudmant, Arthur Ko et al. · Genome Research · 2012 · 676 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Femke Hannes, Andrew J. Sharp, Heather C. Mefford et al. · Journal of Medical Genetics · 2008 · 346 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Reinhard Ullmann, Gillian Turner, Maria Kirchhoff et al. · Human Mutation · 2007 · 288 citations

Life Sciences, Genetics, Molecular Genetics +17

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

Erin L. Heinzen, Rodney A. Radtke, Thomas Urban et al. · The American Journal of Human Genetics · 2010 · 259 citations · Full text

Medicine, Genetics, Molecular Genetics +17