Accurate whole human genome sequencing using reversible terminator chemistry DR Bentley, S Balasubramanian, HP Swerdlow, GP Smith, J Milton, ... nature 456 (7218), 53-59, 2008 | 5247 | 2008 |
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects CR Marshall, DP Howrigan, D Merico, B Thiruvahindrapuram, W Wu, ... Nature genetics 49 (1), 27-35, 2017 | 1003 | 2017 |
The national institutes of health undiagnosed diseases program: insights into rare diseases WA Gahl, TC Markello, C Toro, KF Fajardo, M Sincan, F Gill, ... Genetics in Medicine 14 (1), 51-59, 2012 | 326 | 2012 |
Accurate and comprehensive sequencing of personal genomes SS Ajay, SCJ Parker, HO Abaan, KVF Fajardo, EH Margulies Genome research 21 (9), 1498-1505, 2011 | 317 | 2011 |
GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine TM Pierson, H Yuan, ED Marsh, K Fuentes‐Fajardo, DR Adams, ... Annals of clinical and translational neurology 1 (3), 190-198, 2014 | 293 | 2014 |
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 | 227 | 2011 |
Detecting false‐positive signals in exome sequencing KV Fuentes Fajardo, D Adams, NISC Comparative Sequencing Program, ... Human mutation 33 (4), 609-613, 2012 | 199 | 2012 |
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy H Yuan, KB Hansen, J Zhang, T Mark Pierson, TC Markello, KVF Fajardo, ... Nature communications 5 (1), 1-12, 2014 | 156 | 2014 |
Frequency and complexity of de novo structural mutation in autism WM Brandler, D Antaki, M Gujral, A Noor, G Rosanio, TR Chapman, ... The American Journal of Human Genetics 98 (4), 667-679, 2016 | 124 | 2016 |
CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects CR Marshall, DP Howrigan, D Merico, B Thiruvahindrapuram, W Wu, ... Nat Genet 49 (1), 27-35, 2017 | 114 | 2017 |
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity DR Adams, H Yuan, T Holyoak, KH Arajs, P Hakimi, TC Markello, ... Molecular genetics and metabolism 113 (3), 161-170, 2014 | 74 | 2014 |
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 | 65 | 2012 |
Analysis of DNA sequence variants detected by high‐throughput sequencing DR Adams, M Sincan, K Fuentes Fajardo, JC Mullikin, TM Pierson, C Toro, ... Human mutation 33 (4), 599-608, 2012 | 43 | 2012 |
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 | 42 | 2012 |
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) TM Pierson, T Markello, J Accardi, L Wolfe, D Adams, M Sincan, ... Neuromuscular Disorders 23 (6), 483-488, 2013 | 30 | 2013 |
Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data PF Cherukuri, V Maduro, KV Fuentes-Fajardo, K Lam, ... BMC genomics 16, 1-10, 2015 | 10 | 2015 |
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nat Commun 5: 3251 H Yuan, KB Hansen, J Zhang, TM Pierson, TC Markello, KV Fajardo, ... | 7 | 2014 |
Whole exome sequencing identifies AFG3L2 mutation in a novel recessive progressive myoclonic epilepsy-ataxia-neuropathy syndrome TM Pierson, D Adams, F Bonn, PE Cherikuri, JK Teer, NE Hanson, ... ANNALS OF NEUROLOGY 68 (4), S68-S69, 2010 | 2 | 2010 |
Systematic identification and definition of consistently well-characterized protein-coding exons using next generation sequencing technology PF Cherukuri, M Sincan, JP Accardi, KF Fajardo, TC Markello, ... Journal of Genomes and Exomes 2, 2013 | 1 | 2013 |
GP 95 Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10 KG Meilleur, TM Pierson, M Jain, S Donkervoort, T Markello, L Wolfe, ... Neuromuscular Disorders 22 (9), 870-871, 2012 | 1 | 2012 |