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Nagamani Sandesh C Sreenath

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta

Chaya N Murali,David Cuthbertson, Brady Slater, Dianne Nguyen, Alicia Turner,Gerald Harris,V Reid Sutton,Brendan Lee,Sandesh C S Nagamani

GENETICS IN MEDICINE, no. 3.0 (2020): 581.0-589.0

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From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

Matthias Zielonka,Sven F Garbade, Florian Gleich,Jürgen G Okun,Sandesh C S Nagamani,Andrea L Gropman,Georg F Hoffmann,Stefan Kölker,Roland Posset

HUMAN MUTATION, no. 5.0 (2020): 946-960

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Widespread disturbance in extracellular matrix collagen biomarker responses to teriparatide therapy in osteogenesis imperfecta

Lindsey Nicol, Priya Srikanth,Kim Henriksen, Shu Sun,Rosamund Smith,Morten A Karsdal,Sandesh C S Nagamani,Jay Shapiro,Brendan Lee, Benjamin Z Leder,Eric Orwoll

Bone, (2020): 115703-115703

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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Roland Posset,Sven F Garbade, Florian Gleich,Andrea L Gropman,Pascale de Lonlay,Georg F Hoffmann, Angeles Garcia-Cazorla,Sandesh C S Nagamani,Matthias R Baumgartner, Andreas Schulze, Dries Dobbelaere,Marc Yudkoff

Scientific reports, no. 1 (2020): 11948

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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 E Walter,Georg F Hoffmann,Sven F Garbade,Matthias Zielonka

Molecular genetics and metabolism, (2020)

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PROSPECTIVE ANALYSIS OF LIVER DISEASE IN UREA CYCLE DISORDERS

Lindsay Burrage, Saima Ali,Sandesh Nagamani,Deborah Schady,Prakash Masand,Benjamin L. Shneider,Daniel H. Leung

HEPATOLOGY, no. SUPnan (2019): 1025A-1025A

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UNTARGETED METABOLOMIC PROFILING DETECTS PATHWAY PERTURBATIONS AND NEW CLINICAL BIOMARKERS IN UREA CYCLE DISORDERS

Lindsay C. Burrage, Lillian R. Thistlethwaite, Bridget M. Stroup,Qin Sun,Marcus J. Miller,Sandesh C. S. Nagamani,William Craigen,Fernando Scaglia,V. Reid Sutton,Brett H. Graham,Adam D. Kennedy,Aleksandar Milosavljevic

MOLECULAR GENETICS AND METABOLISM, no. 3 (2019): 258-258

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Mobility in Osteogenesis Imperfecta: A Multicenter North American Study

Karen M. Kruger,Angela Caudill, Mercedes Rodriguez Celin,Sandesh C. S. Nagamani,Jay R. Shapiro,Robert D. Steiner,Michael B. Bober,Tracy Hart,David Cuthbertson,Jeffrey P. Krischer,Peter H. Byers,Michaela Durigova

GENETICS IN MEDICINE, no. 10.0 (2019): 2311.0-2318.0

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UNTARGETED METABOLOMIC PROFILING DETECTS PATHWAY PERTURBATIONS AND NEW CLINICAL BIOIVIARICERS IN UREA CYCLE DISORDERS

Lindsay C. Burrage, Lillian R. Thistlethwaite, Bridget M. Stroup,Qin Sun,Marcus J. Miller,Sandesh C. S. Nagamani,William Craigen,Fernando Scaglia,V. Reid Sutton,Brett H. Graham,Adam D. Kennedy,Aleksandar Milosavljevic

MOLECULAR GENETICS AND METABOLISM, no. 3 (2019): 292-293

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Early prediction of phenotypic severity in Citrullinemia Type 1

Matthias Zielonka,Stefan Kölker, Florian Gleich, Nicolas Stützenberger,Sandesh C S Nagamani,Andrea L Gropman,Georg F Hoffmann,Sven F Garbade,Roland Posset

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, no. 9.0 (2019): 1858.0-1871.0

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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders

Lindsay C Burrage, Lillian Thistlethwaite, Bridget M Stroup,Qin Sun, Marcus J Miller,Sandesh C S Nagamani,William Craigen,Fernando Scaglia,V Reid Sutton,Brett Graham,Adam D Kennedy,Aleksandar Milosavljevic

GENETICS IN MEDICINE, no. 9.0 (2019): 1977.0-1986.0

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ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus

Shaul Lerner, Elmira Anderzhanova, Sima Verbitsky,Raya Eilam,Yael Kuperman,Michael Tsoory, Yuri Kuznetsov,Alexander Brandis, Tevie Mehlman, Ram Mazkereth, Robert McCarter,Menahem Segal

Cell Reports, no. 8 (2019): 2144-2153.e7

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Impact of diagnosis and therapy on cognitive function in urea cycle disorders

Roland Posset,Andrea L Gropman,Sandesh C S Nagamani,Lindsay C Burrage, Jirair K Bedoyan, Derek Wong,Gerard T Berry,Matthias R Baumgartner,Marc Yudkoff,Matthias Zielonka,Georg F Hoffmann,Peter Burgard

ANNALS OF NEUROLOGY, no. 1.0 (2019): 116-128

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Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

Mahim Jain, Allison Tam,Jay R Shapiro,Robert D Steiner,Peter A Smith,Michael B Bober,Tracy Hart,David Cuthbertson,Jeff Krischer,Mary Mullins, Sunil Bellur,Peter H Byers

GENETICS IN MEDICINE, no. 2 (2019): 275.0-283.0

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BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, Laila C Schenkel,Deanna Alexis Carere, Rana Chakrabarti,Sandesh C S Nagamani, Sau Wai Cheung,Philippe M Campeau, Chitra Prasad,Victoria Mok Siu, Lauren Brady

NATURE COMMUNICATIONS, no. 1 (2018): 4885

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Induction of Nitric-Oxide Metabolism in Enterocytes Alleviates Colitis and Inflammation-Associated Colon Cancer

Noa Stettner,Chava Rosen,Biana Bernshtein,Shiri Gur-Cohen, Julia Frug, Alon Silberman, Alona Sarver, Narin N Carmel-Neiderman,Raya Eilam,Inbal Biton,Meirav Pevsner-Fischer,Niv Zmora

Cell Reports, no. 7 (2018): 1962-1976

Cited by7WOSBibtex

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension

Jordan Kho,Xiaoyu Tian,Wing-Tak Wong,Terry Bertin,Ming-Ming Jiang,Shan Chen, Zixue Jin,Oleg A Shchelochkov,Lindsay C Burrage,Anilkumar K Reddy,Hong Jiang,Reem Abo-Zahrah

AMERICAN JOURNAL OF HUMAN GENETICS, no. 2 (2018): 276-287

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A Multicenter Study to Evaluate Pulmonary Function in Osteogenesis Imperfecta

Allison Tam,Shan Chen, Evan Schauer,Ingo Grafe, Venkata Bandi,Jay R Shapiro,Robert D Steiner,Peter A Smith,Michael B Bober,Tracy Hart,David Cuthbertson,Jeff Krischer

CLINICAL GENETICS, no. 6 (2018): 502.0-511.0

Cited by1WOSBibtex

Alterations in non-type I collagen biomarkers in osteogenesis imperfecta

Lindsey Nicol, Patrick Morar,Ying Wang,Kim Henriksen, Shu Sun,Morten Karsdal,Rosamund Smith,Sandesh C S Nagamani, Jay Shapiro,Brendan Lee,Eric Orwoll

Bone, (2018): 70-74

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UREA CYCLE DISORDERS CONSORTIUM HIGHLIGHTS

Sandesh C. S. Nagamani, Jennifer Seminara,Shawn E. McCandless, Cynthia C. Le Mons,Andrea Gropman

MOLECULAR GENETICS AND METABOLISM, no. 3 (2018): 199-200

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