| Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements P Liu, A Erez, SCS Nagamani, SU Dhar, KE Kołodziejska, ... Cell 146 (6), 889-903, 2011 | 464 | 2011 |
| Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders IM Campbell, BO Yuan, C Robberecht, R Pfundt, P Szafranski, ... The American Journal of Human Genetics 95 (2), 173-182, 2014 | 276 | 2014 |
| Microdeletion 15q13. 3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders S Ben-Shachar, B Lanpher, JR German, M Qasaymeh, L Potocki, ... Journal of medical genetics 46 (6), 382-388, 2009 | 258 | 2009 |
| Requirement of argininosuccinate lyase for systemic nitric oxide production A Erez, SCS Nagamani, OA Shchelochkov, MH Premkumar, ... Nature medicine 17 (12), 1619-1626, 2011 | 227 | 2011 |
| Urea cycle dysregulation generates clinically relevant genomic and biochemical signatures JS Lee, L Adler, H Karathia, N Carmel, S Rabinovich, N Auslander, ... Cell 174 (6), 1559-1570. e22, 2018 | 221 | 2018 |
| Evaluation of teriparatide treatment in adults with osteogenesis imperfecta ES Orwoll, J Shapiro, S Veith, Y Wang, J Lapidus, C Vanek, JL Reeder, ... The Journal of clinical investigation 124 (2), 491-498, 2014 | 213 | 2014 |
| Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 SCS Nagamani, A Erez, J Shen, C Li, E Roeder, S Cox, L Karaviti, ... European Journal of Human Genetics 18 (3), 278-284, 2010 | 167 | 2010 |
| Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders LC Burrage, SCS Nagamani, PM Campeau, BH Lee Human molecular genetics 23 (R1), R1-R8, 2014 | 149 | 2014 |
| DUF1220-domain copy number implicated in human brain-size pathology and evolution LJ Dumas, MS O’Bleness, JM Davis, CM Dickens, N Anderson, ... The American Journal of Human Genetics 91 (3), 444-454, 2012 | 149 | 2012 |
| Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13. 3 result in facial dysmorphisms, growth restriction, and cognitive impairment SCS Nagamani, F Zhang, OA Shchelochkov, W Bi, Z Ou, F Scaglia, ... Journal of medical genetics 46 (12), 825-833, 2009 | 146 | 2009 |
| Argininosuccinate lyase deficiency SCS Nagamani, A Erez, B Lee Genetics in medicine 14 (5), 501-507, 2012 | 140 | 2012 |
| Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate GA Diaz, LS Krivitzky, M Mokhtarani, W Rhead, J Bartley, A Feigenbaum, ... Hepatology 57 (6), 2171-2179, 2013 | 121 | 2013 |
| Phenotypic manifestations of copy number variation in chromosome 16p13. 11 SCS Nagamani, A Erez, P Bader, SR Lalani, DA Scott, F Scaglia, SE Plon, ... European Journal of Human Genetics 19 (3), 280-286, 2011 | 121 | 2011 |
| Argininosuccinate lyase deficiency—argininosuccinic aciduria and beyond A Erez, SCS Nagamani, B Lee American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2011 | 113 | 2011 |
| BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes E Aref-Eshghi, EG Bend, RL Hood, LC Schenkel, DA Carere, ... Nature communications 9 (1), 4885, 2018 | 111 | 2018 |
| Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 S Gu, BO Yuan, IM Campbell, CR Beck, CMB Carvalho, SCS Nagamani, ... Human molecular genetics 24 (14), 4061-4077, 2015 | 97 | 2015 |
| Copy number gain at Xp22. 31 includes complex duplication rearrangements and recurrent triplications P Liu, A Erez, SC Sreenath Nagamani, W Bi, CMB Carvalho, AD Simmons, ... Human molecular genetics 20 (10), 1975-1988, 2011 | 94 | 2011 |
| Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria SCS Nagamani, PM Campeau, OA Shchelochkov, MH Premkumar, ... The American Journal of Human Genetics 90 (5), 836-846, 2012 | 93 | 2012 |
| Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease SN Van Der Crabben, MP Hennus, GA McGregor, DI Ritter, ... The Journal of clinical investigation 126 (8), 2881-2892, 2016 | 87 | 2016 |
| Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation JR Shapiro, C Lietman, M Grover, JT Lu, SCS Nagamani, BC Dawson, ... Journal of Bone and Mineral Research 28 (7), 1523-1530, 2013 | 85 | 2013 |
Brendan LeeBaylor College of Medicine在 bcm.edu 的电子邮件经过验证
