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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 | 408 | 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 | 300 | 2009 |
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet [alpha]-granules M Gunay-Aygun, TC Falik-Zaccai, T Vilboux, Y Zivony-Elboum, F Gumruk, ... Nature genetics 43 (8), 732-734, 2011 | 283 | 2011 |
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 | 214 | 2011 |
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 116 (23), 4990, 2010 | 169 | 2010 |
Evidence for a wounding-induced xylem occlusion in stems of cut chrysanthemum flowers WG van Doorn, P Cruz Postharvest biology and technology 19 (1), 73-83, 2000 | 99 | 2000 |
Specific inactivation of two immunomodulatory SIGLEC genes during human evolution X Wang, N Mitra, I Secundino, K Banda, P Cruz, V Padler-Karavani, ... Proceedings of the National Academy of Sciences, 2012 | 89 | 2012 |
Predisposition to cancer caused by genetic and functional defects of mammalian Atad5 DW Bell, N Sikdar, K Lee, JC Price, R Chatterjee, HD Park, J Fox, M Ishiai, ... PLoS genetics 7 (8), e1002245, 2011 | 87 | 2011 |
Light whole genome sequence for SNP discovery across domestic cat breeds J Mullikin, N Hansen, L Shen, H Ebling, W Donahue, W Tao, D Saranga, ... BMC genomics 11 (1), 406, 2010 | 74 | 2010 |
Mutational and Functional Analysis Reveals ADAMTS18 Metalloproteinase as a Novel Driver in Melanoma X Wei, TD Prickett, CG Viloria, A Molinolo, JC Lin, I Cardenas-Navia, ... Molecular Cancer Research 8 (11), 1513, 2010 | 68 | 2010 |
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, 2011 | 63 | 2011 |
Evolution of Siglec-11 and Siglec-16 Genes in Hominins. X Wang, N Mitra, P Cruz, L Deng, N Varki, T Angata, E Green, J Mullikin, ... Molecular biology and evolution, 2012 | 54 | 2012 |
Incidental Medical Information in Whole-Exome Sequencing BD Solomon, DW Hadley, DE Pineda-Alvarez, A Kamat, JK Teer, ... Pediatrics, 2012 | 44 | 2012 |
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis TM Pierson, D Adams, T Markello, F Golas, S Yang, M Sincan, ... Neurology, 2011 | 41 | 2011 |
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 |
Novel somatic mutations in heterotrimeric G proteins in melanoma LI Cárdenas-Navia, P Cruz, JC Lin, SA Rosenberg, Y Samuels Cancer biology & therapy 10 (1), 33-37, 2010 | 31 | 2010 |
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of< i> MEGF10</i> causing early onset myopathy, areflexia, respiratory distress and dysphagia … TM Pierson, T Markello, J Accardi, L Wolfe, D Adams, M Sincan, ... Neuromuscular Disorders, 2013 | 29 | 2013 |
Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1 ML Rudd, H Mohamed, JC Price, JO Andrea, M Le Gallo, ME Urick, ... BMC cancer 14 (1), 884, 2014 | 25 | 2014 |