SandeshChakravarthySreenath NagamaniMD

PubMed

• Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.
  Emily Busse, Brendan Lee, Sandesh C S Nagamani> ;Current Osteoporosis Reports. 2024 Apr 11
• The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
  Shenglan Li, Sen Zhao, Jefferson C Sinson, Aleksandar Bajic, Jill A Rosenfeld, Matthew B Neeley, Mezthly Pena, Kim C Worley, Lindsay C Burrage, Monika Weisz-Hubshman, ...> ;American Journal of Human Genetics. 2024 Apr 3
• Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.
  Roland Posset, Sven F Garbade, Florian Gleich, Sandesh C S Nagamani, Andrea L Gropman, Friederike Epp, Nesrine Ramdhouni, Ann-Catrin Druck, Georg F Hoffmann, Stefan Kö...> ;Molecular Genetics and Metabolism. 2024 Mar 1
• Improving access to exome sequencing in a medically underserved population through the Texome Project.
  Blake Vuocolo, Ryan J German, Seema R Lalani, Chaya N Murali, Carlos A Bacino, Stephanie Baskin, Rebecca Littlejohn, John D Odom, Scott McLean, Carrie Schmid, Morgan N...> ;Genetics in Medicine. 2024 Feb 29
• Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.
  Ryan J German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A Lewis, Lisa Saba, , Michael F Wangler, Sandesh Nagamani> ;Molecular Genetics & Genomic Medicine. 2024 Feb 1
• Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
  Roland Posset, Sven F Garbade, Florian Gleich, Svenja Scharre, Jürgen G Okun, Andrea L Gropman, Sandesh C S Nagamani, Ann-Catrin Druck, Friederike Epp, Georg F Hoffman...> ;Genetics in Medicine. 2024 Apr 1
• 1 citations
  Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
  Chaya N Murali, John R Barber, Robert McCarter, Anqing Zhang, Natalie Gallant, Kara Simpson, Naghmeh Dorrani, Greta N Wilkening, Ron D Hays, Uta Lichter-Konecki, , Lin...> ;Molecular Genetics and Metabolism. 2023 Nov 1
• Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn.
  Kevin E Glinton, Charles G Minard, Ning Liu, Sarah H Elsea, Lindsay C Burrage, Sandesh C S Nagamani, Qin Sun> ;Molecular Genetics and Metabolism. 2023 Nov 1
• 1 citations
  Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.
  Jordan Kho, Urszula Polak, Ming-Ming Jiang, John D Odom, Jill V Hunter, Saima M Ali, Lindsay C Burrage, Robia G Pautler, Hannah P Thompson, Akihiko Urayama, Zixue Jin,...> ;JCI Insight. 2023 Sep 8
• 5 citations
  Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.
  Winnie Liu, Brendan Lee, Lindsey Nicol, Frank Rauch, Eric T Rush, V Reid Sutton, Eric Orwoll, Sandesh C S Nagamani> ;The Journal of Clinical Endocrinology and Metabolism. 2023 Jun 16
• 4 citations
  Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
  Svenja Scharre, Roland Posset, Sven F Garbade, Florian Gleich, Marie J Seidl, Ann-Catrin Druck, Jürgen G Okun, Andrea L Gropman, Georg F Hoffmann, Stefan Kölker, Matth...> ;Annals of Clinical and Translational Neurology. 2022 Nov 1
• 3 citations
  A multicenter study to evaluate pain characteristics in osteogenesis imperfecta.
  Mercedes Rodriguez Celin, Karen M Kruger, Angela Caudill, Chaya N Murali, Sandesh C S Nagamani, , Peter A Smith, Gerald F Harris> ;American Journal of Medical Genetics. Part A. 2023 Jan 1
• 7 citations
  A GMR-based assay for quantification of the human response to influenza.
  Neeraja Ravi, Sarah E Chang, Luis M Franco, Purvesh Khatri, Paul J Utz, Shan X Wang, Sandesh C S Nagamani> ;Biosensors & Bioelectronics. 2022 Jun 1
• 11 citations
  Targeting TGF-β for treatment of osteogenesis imperfecta.
  I-Wen Song, Sandesh Cs Nagamani, Dianne Nguyen, Ingo Grafe, Vernon Reid Sutton, Francis H Gannon, Elda Munivez, Ming-Ming Jiang, Alyssa Tran, Maegen Wallace, Paul Espo...> ;The Journal of Clinical Investigation. 2022 Apr 1
• Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.
  Sandesh C S Nagamani, Umang Agarwal, Allison Tam, Mahshid Azamian, Ann McMeans, Inka C Didelija, Mahmoud A Mohammad, Juan C Marini> ;Genetics in Medicine. 2021 Nov 1
• 9 citations
  ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype
  Shaul Lerner, Raya Eilam, Lital Adler, Julien Baruteau, Topaz Kreiser, Michael Tsoory, Alexander Brandis, Tevie Mehlman, Mina Ryten, Juan A. Botía, Sonia Garcia Ruiz, ...> ;Human Genetics. 2021 Aug 21
• 7 citations
  Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes.
  Rashmi Rao, David Cuthbertson, Sandesh C.S. Nagamani, Vernon R. Sutton, Brendan Lee, Jeffrey P. Krischer, Deborah Krakow> ;American Journal of Obstetrics & Gynecology MFM. 2021 Jul 1
• 5 citations
  Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta.
  L E Nicol, Ryan F. Coghlan, David Cuthbertson, Sandesh C.S. Nagamani, B. Lee, Robert C. Olney, William A. Horton, Eric S. Orwoll> ;Bone. 2021 Apr 28
• 7 citations
  Biomarkers for liver disease in urea cycle disorders.
  Sandesh C.S. Nagamani, Saima Ali, Rima Izem, Deborah Schady, Prakash Masand, Benjamin L. Shneider, Daniel H. Leung, Lindsay C. Burrage> ;Molecular Genetics and Metabolism. 2021 Apr 8
• 30 citations
  Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation
  Zixue Jin, Jordan Kho, Brian Dawson, Ming-Ming Jiang, Yuqing Chen, Saima Ali, Lindsay C. Burrage, Monica Grover, Donna Palmer, Dustin L. Turner, Philip Ng, Sandesh C.S...> ;The Journal of Clinical Investigation. 2021 Mar 1
• 4 citations
  Health-related quality of life in adults with osteogenesis imperfecta.
  Chaya N. Murali, Brady Slater, Salma Musaad, David Cuthbertson, Dianne Nguyen, Alicia Turner, Mahshid S. Azamian, Laura L. Tosi, Frank Rauch, V. Reid Sutton, Brendan L...> ;Clinical Genetics. 2021 Feb 12
• 7 citations
  A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing
  Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric S. Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons> ;Molecular Genetics and Metabolism Reports. 2021 Jan 8
• 3 citations
  Widespread disturbance in extracellular matrix collagen biomarker responses to teriparatide therapy in osteogenesis imperfecta.
  Lindsey Nicol, Priya Srikanth, Kim Henriksen, Shu Sun, Rosamund C. Smith, Morten A. Karsdal, Sandesh C.S. Nagamani, Jay R Shapiro, Brendan Lee, Benjamin Z. Leder, Eric...> ;Bone. 2021 Jan 1
• 13 citations
  Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
  Roland Posset, Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea L. Gropman, Sandesh C.S. Nagamani, Svenja Scharre, Joris Probst, Magdalena Walter, Georg F. Hoffma...> ;Molecular Genetics and Metabolism. 2020 Dec 1
• 7 citations
  A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta.
  Mercedes Rodriguez Celin, Karen M. Kruger, Angela Caudill, Sandesh C.S. Nagamani, Gerald F. Harris, Peter A. Smith> ;JB & JS Open Access. 2020 Sep 11
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