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Sandesh CS Nagamani
Sandesh CS Nagamani
Professor, Molecular and Human Genetics, Baylor College of Medicine
在 bcm.edu 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
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
4642011
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
2762014
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
2582009
Requirement of argininosuccinate lyase for systemic nitric oxide production
A Erez, SCS Nagamani, OA Shchelochkov, MH Premkumar, ...
Nature medicine 17 (12), 1619-1626, 2011
2272011
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
2212018
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
2132014
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
1672010
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
1492014
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
1492012
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
1462009
Argininosuccinate lyase deficiency
SCS Nagamani, A Erez, B Lee
Genetics in medicine 14 (5), 501-507, 2012
1402012
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
1212013
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
1212011
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
1132011
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
1112018
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
972015
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
942011
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
932012
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
872016
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
852013
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