SANDESH NAGAMANI

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    Collapse Biography 
    Collapse awards and honors
    2013 - 2016Clinical Scientist Development Award, Doris Duke Charitable foundation
    2012 - 2012Making The Difference Recognition Award, NUCDF
    2016Norton Rose Fulbright Faculty Excellence Award Award, Baylor Colege of Medicine
    2012 - 2016Adult Genetics Excellence in Education Award, Baylor College of Medicine

    Collapse Research 
    Collapse research activities and funding
    R01AR071741     (LEE, BRENDAN)Apr 1, 2017 - Mar 31, 2021
    NIH
    Nitric Oxide and Bone Homeostasis in Patients with Argininosuccinate Lyase Deficiency
    Role: Co-Principal Investigator

    U54HD061221     (GROPMAN, ANDREA LYNNE)Sep 30, 2003 - Jul 31, 2024
    NIH
    Rare Diseases Clinical Research Consortia (RDCRC) for the Rare Diseases Clinical Research Network (RDCRN) (U54 Clinical Trial Optional)
    Role: Co-Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Marom R, Song IW, Busse EC, Washington ME, Berrier AS, Rossi VC, Ortinau L, Jeong Y, Jiang MM, Dawson BC, Adeyeye M, Leynes C, Lietman CD, Stroup BM, Batkovskyte D, Jain M, Chen Y, Cela R, Castellon A, Tran AA, Lorenzo I, Meyers DN, Huang S, Turner A, Shenava V, Wallace M, Orwoll E, Park D, Ambrose CG, Nagamani SC, Heaney JD, Lee BH. The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect. J Clin Invest. 2024 Jun 11. PMID: 38885336.
      Citations:    Fields:    
    2. Hald JD, Langdahl B, Folkestad L, Wekre LL, Johnson R, Nagamani SCS, Raggio C, Ralston SH, Semler O, Tosi L, Orwoll E. Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood. Calcif Tissue Int. 2024 Jun 05. PMID: 38836890.
      Citations:    Fields:    
    3. Busse E, Lee B, Nagamani SCS. Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know. Curr Osteoporos Rep. 2024 Jun; 22(3):308-317. PMID: 38600318.
      Citations:    Fields:    Translation:Humans
    4. Li S, Zhao S, Sinson JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage LC, Weisz-Hubshman M, Ketkar S, Craigen WJ, Clark GD, Lalani S, Bacino CA, Machol K, Chao HT, Potocki L, Emrick L, Sheppard J, Nguyen MTT, Khoramnia A, Hernandez PP, Nagamani SC, Liu Z, Undiagnosed Diseases Network, Eng CM, Lee B, Liu P. The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing. Am J Hum Genet. 2024 May 02; 111(5):841-862. PMID: 38593811; PMCID: PMC11080285.
      Citations:    Fields:    Translation:HumansCells
    5. Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SC, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Texome Project, Owen N, Vossaert L, Liu P, Bellen H, Wangler M, Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102. PMID: 38431799; PMCID: PMC11161315.
      Citations:    Fields:    Translation:Humans
    6. German RJ, Vuocolo B, Vossaert L, Owen N, Lewis RA, Saba L, Texome Project, Wangler MF, Nagamani S. Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss. Mol Genet Genomic Med. 2024 Feb; 12(2):e2404. PMID: 38404254; PMCID: PMC10895382.
      Citations: 1     Fields:    Translation:Humans
    7. Posset R, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Epp F, Ramdhouni N, Druck AC, Hoffmann GF, K?lker S, Zielonka M, Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type M. Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders. Mol Genet Metab. 2024 Mar; 141(3):108112. PMID: 38301530.
      Citations:    Fields:    Translation:Humans
    8. Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, K?lker S, Zielonka M, Urea Cycle Disorders Consortium (UCDC), European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders. Genet Med. 2024 04; 26(4):101039. PMID: 38054409.
      Citations:    Fields:    
    9. Glinton KE, Minard CG, Liu N, Sun Q, Elsea SH, Burrage LC, Nagamani SCS. Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn. Mol Genet Metab. 2023 11; 140(3):107699. PMID: 37717413; PMCID: PMC11162249.
      Citations:    Fields:    Translation:Humans
    10. Kho J, Polak U, Jiang MM, Odom JD, Hunter JV, Ali SM, Burrage LC, Nagamani SC, Pautler RG, Thompson HP, Urayama A, Jin Z, Lee B. Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression. JCI Insight. 2023 09 08; 8(17). PMID: 37490345; PMCID: PMC10544197.
      Citations:    Fields:    Translation:HumansAnimalsCells
    11. Murali CN, Barber JR, McCarter R, Zhang A, Gallant N, Simpson K, Dorrani N, Wilkening GN, Hays RD, Lichter-Konecki U, Members of the Urea Cycle Disorders Consortium, Burrage LC, Nagamani SCS. Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders. Mol Genet Metab. 2023 11; 140(3):107696. PMID: 37690181; PMCID: PMC10866211.
      Citations:    Fields:    Translation:Humans
    12. Liu W, Lee B, Nagamani SCS, Nicol L, Rauch F, Rush ET, Sutton VR, Orwoll E. Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta. J Clin Endocrinol Metab. 2023 06 16; 108(7):1787-1796. PMID: 36658750; PMCID: PMC10271227.
      Citations:    Fields:    Translation:Humans
    13. Rodriguez Celin M, Kruger KM, Caudill A, Murali CN, Nagamani SCS, Smith PA, Harris GF, Members of the Brittle Bone Disorders Consortium (BBDC). A multicenter study to evaluate pain characteristics in osteogenesis imperfecta. Am J Med Genet A. 2023 Jan; 191(1):160-172. PMID: 36271817; PMCID: PMC10399129.
      Citations:    Fields:    Translation:Humans
    14. Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, K?lker S, Zielonka M, Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type M. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency. Ann Clin Transl Neurol. 2022 11; 9(11):1715-1726. PMID: 36217298; PMCID: PMC9639638.
      Citations: 2     Fields:    Translation:Humans
    15. Song IW, Nagamani SC, Nguyen D, Sutton VR, Gannon FH, Munivez E, Jiang MM, Tran A, Wallace M, Esposito P, Musaad S, Strudthoff E, McGuire S, Thornton M, Shenava V, Rosenfeld S, Huang S, Shypailo R, Orwoll E, Lee B, Grafe I. Targeting TGF-? for treatment of osteogenesis imperfecta. J Clin Invest. 2022 04 01; 132(7). PMID: 35113812; PMCID: PMC8970679.
      Citations:    Fields:    Translation:HumansCTClinical Trials
    16. Ravi N, Chang SE, Franco LM, Nagamani SCS, Khatri P, Utz PJ, Wang SX. A GMR-based assay for quantification of the human response to influenza. Biosens Bioelectron. 2022 Jun 01; 205:114086. PMID: 35192997; PMCID: PMC8986584.
      Citations:    
    17. Nagamani SCS, Agarwal U, Tam A, Azamian M, McMeans A, Didelija IC, Mohammad MA, Marini JC. Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genet Med. 2021 Nov; 23(11):2227. PMID: 33958751.
      Citations:    Fields:    
    18. Lerner S, Eilam R, Adler L, Baruteau J, Kreiser T, Tsoory M, Brandis A, Mehlman T, Ryten M, Botia JA, Ruiz SG, Garcia AC, Dionisi-Vici C, Ranucci G, Spada M, Mazkereth R, McCarter R, Izem R, Balmat TJ, Richesson R, Members of the UCDC, Gazit E, Nagamani SCS, Erez A. ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype. Hum Genet. 2021 Oct; 140(10):1471-1485. PMID: 34417872; PMCID: PMC8460544.
      Citations:    
    19. Nicol LE, Coghlan RF, Cuthbertson D, Nagamani SCS, Lee B, Olney RC, Horton W, Members of the Brittle Bone Disease Consortium, Orwoll E. Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta. Bone. 2021 08; 149:115990. PMID: 33932621; PMCID: PMC8217291.
      Citations:    
    20. Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC. Biomarkers for liver disease in urea cycle disorders. Mol Genet Metab. 2021 06; 133(2):148-156. PMID: 33846069; PMCID: PMC8195846.
      Citations: 1     Fields:    Translation:HumansCTClinical Trials
    21. Rao R, Cuthbertson D, Nagamani SCS, Sutton VR, Lee BH, Krischer J, Krakow D. Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. Am J Obstet Gynecol MFM. 2021 07; 3(4):100362. PMID: 33781976; PMCID: PMC9448563.
      Citations: 1     Fields:    Translation:Humans
    22. Jin Z, Kho J, Dawson B, Jiang MM, Chen Y, Ali S, Burrage LC, Grover M, Palmer DJ, Turner DL, Ng P, Nagamani SC, Lee B. Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation. J Clin Invest. 2021 03 01; 131(5). PMID: 33373331; PMCID: PMC7919726.
      Citations: 4     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    23. Murali CN, Slater B, Musaad S, Cuthbertson D, Nguyen D, Turner A, Azamian M, Tosi L, Rauch F, Sutton VR, Lee B, Members of the BBD Consortium, Nagamani SCS. Health-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021 06; 99(6):772-779. PMID: 33580568; PMCID: PMC8096695.
      Citations:    Fields:    Translation:Humans
    24. Kumar RD, Burrage LC, Bartos J, Ali S, Schmitt E, Nagamani SCS, LeMons C. A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing. Mol Genet Metab Rep. 2021 Mar; 26:100706. PMID: 33489762; PMCID: PMC7809430.
      Citations: 2     
    25. Posset R, K?lker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M, Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type M. Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders. Mol Genet Metab. 2020 12; 131(4):390-397. PMID: 33288448; PMCID: PMC8315358.
      Citations:    
    26. Nicol L, Srikanth P, Henriksen K, Sun S, Smith R, Karsdal MA, Nagamani SCS, Shapiro J, Lee B, Leder BZ, Orwoll E. Widespread disturbance in extracellular matrix collagen biomarker responses to teriparatide therapy in osteogenesis imperfecta. Bone. 2021 01; 142:115703. PMID: 33099032.
      Citations:    
    27. Rodriguez Celin M, Kruger KM, Caudill A, Nagamani SCS, Brittle Bone Disorders Consortium (BBDC), Linked Clinical Research Centers (LCRC), Harris GF, Smith PA. A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta. JB JS Open Access. 2020 Jul-Sep; 5(3). PMID: 32984750; PMCID: PMC7489747.
      Citations:    
    28. Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, K?lker S, Zielonka M, Urea Cycle Disorders Consortium (UCDC), European registry and network for Intoxication type Metabolic Diseases (E-IMD). Long-term effects of medical management on growth and weight in individuals with urea cycle disorders. Sci Rep. 2020 07 20; 10(1):11948. PMID: 32686765; PMCID: PMC7371674.
      Citations:    
    29. Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M, Members of the Urea Cycle Disorders Consortium (UCDC), Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B. Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency. JCI Insight. 2020 02 27; 5(4). PMID: 31990680; PMCID: PMC7101134.
      Citations: 2     Fields:    Translation:HumansAnimals
    30. Zielonka M, Garbade SF, Gleich F, Okun JG, Nagamani SCS, Gropman AL, Hoffmann GF, K?lker S, Posset R, Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type M. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria. Hum Mutat. 2020 05; 41(5):946-960. PMID: 31943503; PMCID: PMC7428858.
      Citations:    
    31. Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH, Members of the BBD Consortium, Nagamani SCS, Raggio C. Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704. PMID: 31876392; PMCID: PMC7385724.
      Citations: 5     Fields:    Translation:Humans
    32. Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, Harris G, Sutton VR, Lee B, Members of the BBD Consortium, Nagamani SCS. Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta. Genet Med. 2020 03; 22(3):581-589. PMID: 31772349; PMCID: PMC7060104.
      Citations: 6     Fields:    Translation:Humans
    33. Lerner S, Anderzhanova E, Verbitsky S, Eilam R, Kuperman Y, Tsoory M, Kuznetsov Y, Brandis A, Mehlman T, Mazkereth R, UCDC Neuropsychologists, McCarter R, Segal M, Nagamani SCS, Chen A, Erez A. ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus. Cell Rep. 2019 11 19; 29(8):2144-2153.e7. PMID: 31747589; PMCID: PMC6902269.
      Citations:    
    34. Zielonka M, K?lker S, Gleich F, St?tzenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R, Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type M. Early prediction of phenotypic severity in Citrullinemia Type 1. Ann Clin Transl Neurol. 2019 09; 6(9):1858-1871. PMID: 31469252; PMCID: PMC6764635.
      Citations:    
    35. Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Seminara J, Garbade SF, Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metaboli, Garcia-Cazorla A, K?lker S. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 07; 86(1):116-128. PMID: 31018246; PMCID: PMC6692656.
      Citations: 16     Fields:    Translation:HumansPHPublic Health
    36. Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF. Mobility in osteogenesis imperfecta: a multicenter North American study. Genet Med. 2019 10; 21(10):2311-2318. PMID: 30918359; PMCID: PMC7401984.
      Citations: 4     Fields:    Translation:Humans
    37. Baruteau J, Diez-Fernandez C, Lerner S, Ranucci G, Gissen P, Dionisi-Vici C, Nagamani S, Erez A, H?berle J. Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects. J Inherit Metab Dis. 2019 11; 42(6):1147-1161. PMID: 30723942.
      Citations:    
    38. Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD, Members of the UCDC,, Milosavljevic A, Lee BH, Elsea SH. Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986. PMID: 30670878; PMCID: PMC6650380.
      Citations: 16     Fields:    Translation:Humans
    39. Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B, Members of the BBD Consortium, Nagamani SC, Raggio CL. A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. JBMR Plus. 2019 May; 3(5):e10118. PMID: 31131341; PMCID: PMC6524673.
      Citations: 8     
    40. Silberman A, Goldman O, Boukobza Assayag O, Jacob A, Rabinovich S, Adler L, Lee JS, Keshet R, Sarver A, Frug J, Stettner N, Galai S, Persi E, Halpern KB, Zaltsman-Amir Y, Pode-Shakked B, Eilam R, Anikster Y, Nagamani SCS, Ulitsky I, Ruppin E, Erez A. Acid-Induced Downregulation of ASS1 Contributes to the Maintenance of Intracellular pH in Cancer. Cancer Res. 2019 02 01; 79(3):518-533. PMID: 30573518; PMCID: PMC6359973.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    41. Boulier K, Erwin DJ, Nagamani S, Eble TN. A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1. Clin Case Rep. 2019 Jan; 7(1):202-205. PMID: 30656042; PMCID: PMC6333055.
      Citations:    
    42. Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B, Par? G. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. Nat Commun. 2018 11 20; 9(1):4885. PMID: 30459321; PMCID: PMC6244416.
      Citations: 28     Fields:    Translation:HumansCells
    43. Nicol L, Morar P, Wang Y, Henriksen K, Sun S, Karsdal M, Smith R, Nagamani SCS, Shapiro J, Lee B, Orwoll E. Alterations in non-type I collagen biomarkers in osteogenesis imperfecta. Bone. 2019 03; 120:70-74. PMID: 30290234.
      Citations: 3     Fields:    Translation:Humans
    44. Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B, Members of the Brittle Bone Disorders Consortium, Rush ET, Nagamani SCS. A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clin Genet. 2018 12; 94(6):502-511. PMID: 30152014; PMCID: PMC6235719.
      Citations: 12     Fields:    Translation:Humans
    45. Lee JS, Adler L, Karathia H, Carmel N, Rabinovich S, Auslander N, Keshet R, Stettner N, Silberman A, Agemy L, Helbling D, Eilam R, Sun Q, Brandis A, Malitsky S, Itkin M, Weiss H, Pinto S, Kalaora S, Levy R, Barnea E, Admon A, Dimmock D, Stern-Ginossar N, Scherz A, Nagamani SCS, Unda M, Wilson DM, Elhasid R, Carracedo A, Samuels Y, Hannenhalli S, Ruppin E, Erez A. Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures. Cell. 2018 09 06; 174(6):1559-1570.e22. PMID: 30100185; PMCID: PMC6225773.
      Citations: 65     Fields:    Translation:HumansAnimalsCells
    46. Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH. Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet. 2018 08 02; 103(2):276-287. PMID: 30075114; PMCID: PMC6080833.
      Citations: 6     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    47. Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR, , Members of the Brittle Bone Disorders Consortium*,, Nagamani SCS. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med. 2019 02; 21(2):275-283. PMID: 29970925; PMCID: PMC6320321.
      Citations: 11     Fields:    Translation:Humans
    48. Tam A, Sliepka JM, Bellur S, Bray CD, Lincoln CM, Nagamani SCS. Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1. Clin Imaging. 2018 Sep - Oct; 51:160-163. PMID: 29787982; PMCID: PMC6138553.
      Citations: 2     Fields:    Translation:Humans
    49. Stettner N, Rosen C, Bernshtein B, Gur-Cohen S, Frug J, Silberman A, Sarver A, Carmel-Neiderman NN, Eilam R, Biton I, Pevsner-Fischer M, Zmora N, Brandis A, Bahar Halpern K, Mazkereth R, di Bernardo D, Brunetti-Pierri N, Premkumar MH, Dank G, Nagamani SCS, Jung S, Harmelin A, Erez A. Induction of Nitric-Oxide Metabolism in Enterocytes Alleviates Colitis and Inflammation-Associated Colon Cancer. Cell Rep. 2018 05 15; 23(7):1962-1976. PMID: 29768197; PMCID: PMC5976577.
      Citations: 18     Fields:    Translation:AnimalsCells
    50. Nicol L, Wang Y, Smith R, Sloan J, Nagamani SC, Shapiro J, Lee B, Orwoll E. Serum Sclerostin Levels in Adults With Osteogenesis Imperfecta: Comparison With Normal Individuals and Response to Teriparatide Therapy. J Bone Miner Res. 2018 02; 33(2):307-315. PMID: 29044725.
      Citations: 4     Fields:    Translation:Humans
    51. Nagamani SCS, Agarwal U, Tam A, Azamian M, McMeans A, Didelija IC, Mohammad MA, Marini JC. A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genet Med. 2018 07; 20(7):708-716. PMID: 29693650; PMCID: PMC5924481.
      Citations: 4     Fields:    Translation:Humans
    52. Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P, Faivre L, Lefebvre M. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83. PMID: 28934986; PMCID: PMC5607840.
      Citations: 29     Fields:    Translation:Humans
    53. Cao F, Lu L, Abrams SA, Hawthorne KM, Tam A, Jin W, Dawson B, Shypailo R, Liu H, Lee B, Nagamani SCS, Wang LL. Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. Hum Mol Genet. 2017 08 15; 26(16):3046-3055. PMID: 28486640; PMCID: PMC5886079.
      Citations: 5     Fields:    Translation:HumansAnimals
    54. Marini JC, Agarwal U, Didelija IC, Azamian M, Stoll B, Nagamani SC. Plasma Glutamine Is a Minor Precursor for the Synthesis of Citrulline: A Multispecies Study. J Nutr. 2017 04; 147(4):549-555. PMID: 28275102; PMCID: PMC5368584.
      Citations: 9     Fields:    Translation:HumansAnimals
    55. van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 08 01; 126(8):2881-92. PMID: 27427983; PMCID: PMC4966312.
      Citations: 29     Fields:    Translation:HumansCells
    56. Muthusamy K, Mohan S, Nagamani S, Kesavan C. Identification of novel small molecules that bind to the loop2 region of sclerostin - an in silico computational analysis. Physiol Res. 2016 11 23; 65(5):871-878. PMID: 27429110.
      Citations:    
    57. Waisbren SE, Gropman AL, Batshaw ML, Members of the?Urea Cycle Disorders Consortium (UCDC). Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis. 2016 07; 39(4):573-84. PMID: 27215558; PMCID: PMC4921309.
      Citations: 28     Fields:    Translation:Humans
    58. Nagamani SC, Erez A. A metabolic link between the urea cycle and cancer cell proliferation. Mol Cell Oncol. 2016 Mar; 3(2):e1127314. PMID: 27308634; PMCID: PMC4905422.
      Citations: 17     
    59. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF. Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan; 117(1):27-32. PMID: 26586473; PMCID: PMC4915945.
      Citations: 4     Fields:    Translation:HumansCTClinical Trials
    60. Rabinovich S, Adler L, Yizhak K, Sarver A, Silberman A, Agron S, Stettner N, Sun Q, Brandis A, Helbling D, Korman S, Itzkovitz S, Dimmock D, Ulitsky I, Nagamani SC, Ruppin E, Erez A. Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis. Nature. 2015 Nov 19; 527(7578):379-383. PMID: 26560030; PMCID: PMC4655447.
      Citations: 142     Fields:    Translation:HumansAnimalsCells
    61. Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Sutton VR, Lee B, Members of the BBD Consortium, Nagamani SC, Durigova M, Glorieux FH, Rauch F. Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genet Med. 2016 06; 18(6):570-6. PMID: 26426884; PMCID: PMC4818203.
      Citations: 12     Fields:    Translation:Humans
    62. Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G, Members of Urea Cycle Disorders Consortium, Lee BH. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15; 24(22):6417-27. PMID: 26358771; PMCID: PMC5007608.
      Citations: 15     Fields:    Translation:HumansAnimals
    63. Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34. PMID: 26296711; PMCID: PMC4804346.
      Citations: 2     Fields:    Translation:HumansCTClinical Trials
    64. Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77. PMID: 25908615; PMCID: PMC4476451.
      Citations: 51     Fields:    Translation:HumansCells
    65. Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. Adult presentation of X-linked Conradi-H?nermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14. PMID: 25846959; PMCID: PMC4449285.
      Citations: 3     Fields:    Translation:HumansCells
    66. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, Schulze A, Vockley J, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, UCD Consortium, Scharschmidt BF. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul; 17(7):561-8. PMID: 25503497; PMCID: PMC4465427.
      Citations: 7     Fields:    Translation:Humans
    67. Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wisniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 07; 95(2):173-82. PMID: 25087610; PMCID: PMC4129404.
      Citations: 99     Fields:    Translation:HumansCells
    68. Burrage LC, Jain M, Gandolfo L, Lee BH, Members of the Urea Cycle Disorders Consortium, Nagamani SC. Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):131-5. PMID: 25042691; PMCID: PMC4177960.
      Citations: 22     Fields:    Translation:Humans
    69. Premkumar MH, Sule G, Nagamani SC, Chakkalakal S, Nordin A, Jain M, Ruan MZ, Bertin T, Dawson B, Zhang J, Schady D, Bryan NS, Campeau PM, Erez A, Lee B. Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis. Am J Physiol Gastrointest Liver Physiol. 2014 Aug 01; 307(3):G347-54. PMID: 24904080; PMCID: PMC4121640.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    70. Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR. A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clin Genet. 2015 Feb; 87(2):133-40. PMID: 24754836; PMCID: PMC5529599.
      Citations: 25     Fields:    Translation:Humans
    71. Peddibhotla S, Nagamani SC, Erez A, Hunter JV, Holder JL, Carlin ME, Bader PI, Newman L, Simpson G, Immken L, Powell E, Mohanty A, Kang SH, Stankiewicz P, Bacino CA, Bi W, Patel A, Cheung SW, Perras HM, Allanson JE. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60. PMID: 24736736; PMCID: PMC4266737.
      Citations: 20     Fields:    Translation:HumansCells
    72. Burrage LC, Nagamani SC, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014 Sep 15; 23(R1):R1-8. PMID: 24651065; PMCID: PMC4170715.
      Citations: 46     Fields:    Translation:HumansAnimals
    73. Berry SA, Lichter-Konecki U, Diaz GA, McCandless SE, Rhead W, Smith W, Lemons C, Nagamani SC, Coakley DF, Mokhtarani M, Scharschmidt BF, Lee B. Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab. 2014 May; 112(1):17-24. PMID: 24630270; PMCID: PMC4382922.
      Citations: 15     Fields:    Translation:HumansCTClinical Trials
    74. Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, Reeder JL, Keaveny TM, Lee DC, Mullins MA, Nagamani SC, Lee B. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest. 2014 Feb; 124(2):491-8. PMID: 24463451; PMCID: PMC3904621.
      Citations: 53     Fields:    Translation:Humans
    75. Mokhtarani M, Diaz GA, Rhead W, Berry SA, Lichter-Konecki U, Feigenbaum A, Schulze A, Longo N, Bartley J, Berquist W, Gallagher R, Smith W, McCandless SE, Harding C, Rockey DC, Vierling JM, Mantry P, Ghabril M, Brown RS, Dickinson K, Moors T, Norris C, Coakley D, Milikien DA, Nagamani SC, Lemons C, Lee B, Scharschmidt BF. Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. Mol Genet Metab. 2013 Dec; 110(4):446-53. PMID: 24144944; PMCID: PMC4108288.
      Citations: 11     Fields:    Translation:Humans
    76. Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013 Jul; 28(7):1523-30. PMID: 23408678; PMCID: PMC3688672.
      Citations: 37     Fields:    Translation:HumansCTClinical Trials
    77. Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH. Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Aug; 24(8):2253-9. PMID: 23443412; PMCID: PMC3709009.
      Citations: 20     Fields:    Translation:Humans
    78. Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2013 Jun; 57(6):2171-9. PMID: 22961727; PMCID: PMC3557606.
      Citations: 34     Fields:    Translation:HumansCTClinical Trials
    79. Eble TN, Nagamani SC, Franco LM, Plon SE, Blazo M, Dhar SU. The practice of adult genetics: a 7-year experience from a single center. Am J Med Genet A. 2013 Jan; 161A(1):89-93. PMID: 23239603; PMCID: PMC6859647.
      Citations: 4     Fields:    Translation:Humans
    80. Nagamani SC, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O'Brian Smith E, Marini JC, Members of the Urea Cycle Disorders Consortium, Lee B. A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. Mol Genet Metab. 2012 Nov; 107(3):315-21. PMID: 23040521; PMCID: PMC3483446.
      Citations: 12     Fields:    Translation:Humans
    81. Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab. 2012 Nov; 107(3):308-14. PMID: 22958974; PMCID: PMC3608516.
      Citations: 13     Fields:    Translation:Humans
    82. Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM. DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Genet. 2012 Sep 07; 91(3):444-54. PMID: 22901949; PMCID: PMC3511999.
      Citations: 64     Fields:    Translation:HumansAnimalsCells
    83. Nagamani SC, Erez A, Probst FJ, Bader P, Evans P, Baker LA, Fang P, Bertin T, Hixson P, Stankiewicz P, Nelson D, Patel A, Cheung SW. Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. Neurogenetics. 2012 Nov; 13(4):333-9. PMID: 22890812.
      Citations: 11     Fields:    Translation:HumansCells
    84. Nagamani SC, Erez A, Ben-Zeev B, Frydman M, Winter S, Zeller R, El-Khechen D, Escobar L, Stankiewicz P, Patel A, Cheung SW. Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Eur J Hum Genet. 2013 Mar; 21(3):343-6. PMID: 22872102; PMCID: PMC3573196.
      Citations: 27     Fields:    Translation:Humans
    85. Nagamani SC, Lee B, Erez A. Optimizing therapy for argininosuccinic aciduria. Mol Genet Metab. 2012 Sep; 107(1-2):10-4. PMID: 22841516; PMCID: PMC3444682.
      Citations: 4     Fields:    Translation:Humans
    86. Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. Am J Hum Genet. 2012 May 04; 90(5):836-46. PMID: 22541557; PMCID: PMC3376491.
      Citations: 19     Fields:    Translation:HumansAnimals
    87. Nagamani SC, Erez A, Lee B. Argininosuccinate lyase deficiency. Genet Med. 2012 May; 14(5):501-7. PMID: 22241104; PMCID: PMC3709024.
      Citations: 28     Fields:    Translation:HumansPHPublic Health
    88. Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B. Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med. 2011 Nov 13; 17(12):1619-26. PMID: 22081021; PMCID: PMC3348956.
      Citations: 85     Fields:    Translation:HumansAnimalsCells
    89. Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, Graham BH, Nowaczyk MJ, Proud M, Craigen WJ, Hopkins B, Kozel B, Plunkett K, Hixson P, Stankiewicz P, Patel A, Cheung SW. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet. 2012 Feb; 20(2):176-9. PMID: 21934713; PMCID: PMC3260920.
      Citations: 16     Fields:    Translation:HumansCells
    90. Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W, Hern?ndez-Almaguer D. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903. PMID: 21925314; PMCID: PMC3242451.
      Citations: 196     Fields:    Translation:HumansCells
    91. Gu J, Sreenath Nagamani SC, Hopwood VL, Sanchez B, Saeidinejad Y, Ou Z, Peacock S, Grange DK, Stankiewicz P, Cheung SW. Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay. Am J Med Genet A. 2011 Oct; 155A(10):2589-92. PMID: 21910221.
      Citations:    Fields:    Translation:HumansCells
    92. Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A. Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? Mol Genet Metab. 2011 Sep-Oct; 104(1-2):107-11. PMID: 21802329; PMCID: PMC3171515.
      Citations: 17     Fields:    Translation:Humans
    93. Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88. PMID: 21355048; PMCID: PMC3080608.
      Citations: 36     Fields:    Translation:HumansCells
    94. Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med Genet. 2011 Feb 15; 157C(1):45-53. PMID: 21312326; PMCID: PMC3073162.
      Citations: 27     Fields:    Translation:HumansPHPublic Health
    95. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8. PMID: 21248748; PMCID: PMC3060324.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    96. Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6. PMID: 21150890; PMCID: PMC3061988.
      Citations: 39     Fields:    Translation:HumansCells
    97. Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz P, Sutton VR, Cheung SW. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84. PMID: 19844256; PMCID: PMC2987224.
      Citations: 38     Fields:    Translation:HumansCells
    98. Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33. PMID: 19584063.
      Citations: 43     Fields:    Translation:HumansCells
    99. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009 Jun; 46(6):382-8. PMID: 19289393; PMCID: PMC2776649.
      Citations: 96     Fields:    Translation:HumansCells
    100. Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L, Coldwell J, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet. 2009 May; 17(5):573-81. PMID: 19034313; PMCID: PMC2986272.
      Citations: 19     Fields:    Translation:HumansCells
    101. Sreenath Nagamani SC, Kundranda MN, Daw HA. Hereditary hemorrhagic telangiectasia with inherited thrombophilia. Eur J Intern Med. 2006 Jul; 17(4):304. PMID: 16762788.
      Citations:    Fields:    
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