CDD: a Conserved Domain Database for protein classification A Marchler-Bauer, JB Anderson, PF Cherukuri, C DeWeese-Scott, ... Nucleic acids research 33 (suppl_1), D192-D196, 2005 | 1427 | 2005 |
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ... Nature genetics 43 (3), 189-196, 2011 | 409 | 2011 |
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine LG Biesecker, JC Mullikin, FM Facio, C Turner, PF Cherukuri, ... Genome research 19 (9), 1665-1674, 2009 | 301 | 2009 |
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy HM McLaughlin, R Sakaguchi, C Liu, T Igarashi, D Pehlivan, K Chu, ... The American Journal of Human Genetics 87 (4), 560-566, 2010 | 227 | 2010 |
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases TM Pierson, D Adams, F Bonn, P Martinelli, PF Cherukuri, JK Teer, ... PLoS genetics 7 (10), e1002325, 2011 | 215 | 2011 |
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate JJ Johnston, JK Teer, PF Cherukuri, NF Hansen, SK Loftus, K Chong, ... The American Journal of Human Genetics 86 (5), 743-748, 2010 | 175 | 2010 |
Co-evolutionary analysis of domains in interacting proteins reveals insights into domain–domain interactions mediating protein–protein interactions R Jothi, PF Cherukuri, A Tasneem, TM Przytycka Journal of molecular biology 362 (4), 861-875, 2006 | 174 | 2006 |
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p M Gunay-Aygun, Y Zivony-Elboum, F Gumruk, D Geiger, M Cetin, ... Blood, The Journal of the American Society of Hematology 116 (23), 4990-5001, 2010 | 169 | 2010 |
Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma TD Prickett, X Wei, I Cardenas-Navia, JK Teer, JC Lin, V Walia, J Gartner, ... Nature genetics 43 (11), 1119-1126, 2011 | 162 | 2011 |
Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation AM Pilon, SS Ajay, SA Kumar, LA Steiner, PF Cherukuri, S Wincovitch, ... Blood, The Journal of the American Society of Hematology 118 (17), e139-e148, 2011 | 112 | 2011 |
Circadian changes in long noncoding RNAs in the pineal gland SL Coon, PJ Munson, PF Cherukuri, D Sugden, MF Rath, M Møller, ... Proceedings of the National Academy of Sciences 109 (33), 13319-13324, 2012 | 90 | 2012 |
Predisposition to Cancer Caused by Genetic and Functional Defects of Mammalian Atad5 DW Bell, N Sikdar, KY Lee, JC Price, R Chatterjee, HD Park, J Fox, ... PLoS genetics 7 (8), e1002245, 2011 | 87 | 2011 |
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration TM Pierson, DR Simeonov, M Sincan, DA Adams, T Markello, G Golas, ... European journal of human genetics 20 (4), 476-479, 2012 | 63 | 2012 |
Predicting protein domain interactions from coevolution of conserved regions MG Kann, R Jothi, PF Cherukuri, TM Przytycka Proteins: Structure, Function, and Bioinformatics 67 (4), 811-820, 2007 | 62 | 2007 |
Incidental medical information in whole-exome sequencing BD Solomon, DW Hadley, DE Pineda-Alvarez, ... Pediatrics 129 (6), e1605-e1611, 2012 | 44 | 2012 |
Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans AR Bentley, G Chen, D Shriner, AP Doumatey, J Zhou, H Huang, ... PLoS genetics 10 (3), e1004190, 2014 | 43 | 2014 |
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis TM Pierson, DA Adams, T Markello, G Golas, S Yang, M Sincan, ... Neurology 79 (2), 123-126, 2012 | 41 | 2012 |
A W-linked palindrome and gene conversion in New World sparrows and blackbirds JK Davis, PJ Thomas, NISC Comparative Sequencing Program, ... Chromosome Research 18, 543-553, 2010 | 41 | 2010 |
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia C Dias, M Sincan, PF Cherukuri, R Rupps, Y Huang, H Briemberg, ... Human mutation 33 (4), 614-626, 2012 | 40 | 2012 |
Sequencing of Candidate Chromosome Instability Genes in Endometrial Cancers Reveals Somatic Mutations in ESCO1, CHTF18, and MRE11A JC Price, LM Pollock, ML Rudd, SK Fogoros, H Mohamed, CL Hanigan, ... PloS one 8 (6), e63313, 2013 | 36 | 2013 |