Sandesh CS Nagamani

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Brendan LeeBaylor College of MedicineAdresse e-mail validée de bcm.edu
vernon suttonProfessor of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's HospitalAdresse e-mail validée de texaschildrens.org
Sau W CheungProfessor of Molecular and Human Genetics, Baylor College of MedicineAdresse e-mail validée de bcm.edu
Pawel StankiewiczBaylor Colelge of MedicineAdresse e-mail validée de bcm.edu
Peter SmithShriners Hospital for Children ChicagoAdresse e-mail validée de shrinenet.org
Frank RauchShriners HospitalAdresse e-mail validée de shriners.mcgill.ca
Oleg ShchelochkovNational Insitutes of HealthAdresse e-mail validée de nih.gov
Francis GlorieuxEmeritus Professor, McGill UniversityAdresse e-mail validée de shriners.mcgill.ca
Michael B. BoberProfessor of Pediatrics, Thomas Jefferson UniversityAdresse e-mail validée de nemours.org
Eric OrwollProfessor of Medicine, Oregon Health & Science UniversityAdresse e-mail validée de ohsu.edu
James LupskiBaylor College of MedicineAdresse e-mail validée de bcm.edu
Robert D. Steiner, M.D.Professor, University of Wisconsin and Editor in Chief, Genetics in MedicineAdresse e-mail validée de wisc.edu
Muralidhar PremkumarAssociate Professor, Baylor College of MedicineAdresse e-mail validée de bcm.edu
Marwan ShinawiProfessor of PediatricsAdresse e-mail validée de kids.wustl.edu
Mahim JainKennedy Krieger InstituteAdresse e-mail validée de kennedykrieger.org
Susan Berry MDProfessor of Pediatrics, University of MinnesotaAdresse e-mail validée de umn.edu
Shawn McCandlessProfessor of Pediatrics, University of Colorado Anschutz Medical CampusAdresse e-mail validée de childrenscolorado.org
William MitchProfessor of Medicine, Baylor College of MedicineAdresse e-mail validée de bcm.edu
Daniel CohnUCLAAdresse e-mail validée de mcdb.ucla.edu
Gautam SulePostdoctoral Fellow, Rheumatology, Department of Internal Medicine, University of MichiganAdresse e-mail validée de umich.edu

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Sandesh CS Nagamani

Professor, Molecular and Human Genetics, Baylor College of Medicine

Adresse e-mail validée de bcm.edu - Page d'accueil

Inborn errors of metabolism clinical genetics genomic medicine skeletal dysplasia


Titre Trier par citations Trier par année Trier par titre	Citée par Citée par	Année
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	459	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	275	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	257	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	223	2011
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	210	2014
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	208	2018
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	168	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	148	2014
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	145	2009
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	144	2012
Argininosuccinate lyase deficiency SCS Nagamani, A Erez, B Lee Genetics in medicine 14 (5), 501-507, 2012	138	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	120	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	112	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	108	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	96	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	85	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	84	2013

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