Praveen F. Cherukuri

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erica E. Davis, Qi Zhang, Qin Liu et al. · Nature Genetics · 2011 · 379 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine

Leslie G. Biesecker, James C. Mullikin, Flavia M. Facio et al. · Genome Research · 2009 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Tyler Mark Pierson, David R. Adams, Florian Bonn et al. · PLoS Genetics · 2011 · 230 citations · Full text

Life Sciences, Genetics, Neurology +17

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

Heather M. McLaughlin, Reiko Sakaguchi, Cuiping Liu et al. · The American Journal of Human Genetics · 2010 · 202 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

Jennifer J. Johnston, Jamie K. Teer, Praveen F. Cherukuri et al. · The American Journal of Human Genetics · 2010 · 162 citations · Full text

Dentistry, Genetics, Molecular Genetics +17