Sandesh C.S. Nagamani

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 27 papers. Top paper: “Biomarkers for liver disease in urea cycle disorders”.

Biomarkers for liver disease in urea cycle disorders

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.04.001

N/A

0.809DataRank · unranked

20 citations

Saima Ali, Rima Izem, Deborah Schady, Prakash Masand, Benjamin L. Shneider +3 more

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency

JCI Insight(2020)10.1172/jci.insight.132342

N/A

0.769DataRank · unranked

14 citations

Simran Madan, Xiaohui Li, Saima Ali, Mahmoud A. Mohammad, Bridget M. Stroup +17 more

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.10.013

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0DataRank · unranked

29 citations

Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea Gropman, Sandesh C.S. Nagamani +7 more

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

Human Mutation(2020)10.1002/humu.23983

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0DataRank · unranked

26 citations

Sven F. Garbade, Florian Gleich, Jürgen G. Okun, Sandesh C.S. Nagamani, Andrea Gropman +29 more

Malocclusion traits and oral health–related quality of life in children with osteogenesis imperfecta

The Journal of the American Dental Association(2020)10.1016/j.adaj.2020.03.040

N/A

0DataRank · unranked

24 citations

Sreenath Madathil, Frank Rauch, V. Reid Sutton, Brendan Lee, Jean-Marc Retrouvey +19 more

Health‐related quality of life in adults with osteogenesis imperfecta

Clinical Genetics(2021)10.1111/cge.13939

N/A

0DataRank · unranked

28 citations

Brady Slater, Salma Musaad, David Cuthbertson, Dianne Nguyen, Alicia Turner +7 more

Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study

Bone(2021)10.1016/j.bone.2021.115917

N/A

0DataRank · unranked

19 citations

Hanan Moussa, Timothy Schwinghamer, Maxime Ducret, Didem Dagdeviren, Jean-Marc Retrouvey +23 more

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Molecular Genetics and Metabolism Reports(2021)10.1016/j.ymgmr.2020.100706

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0DataRank · unranked

11 citations

Lindsay C. Burrage, Jan Bartoš, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani +2 more

Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta

Bone(2021)10.1016/j.bone.2021.115990

N/A

0DataRank · unranked

9 citations

Ryan F. Coghlan, David Cuthbertson, Sandesh C.S. Nagamani, B Lee, Robert C. Olney +3 more

A multicenter study to evaluate pain characteristics in osteogenesis imperfecta

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63009

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0DataRank · unranked

29 citations

Karen M. Kruger, Angela Caudill, Chaya N. Murali, Sandesh C.S. Nagamani, Peter A. Smith +2 more

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51668

N/A

0DataRank · unranked

25 citations

Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck +7 more

Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression

JCI Insight(2023)10.1172/jci.insight.168475

N/A

0DataRank · unranked

12 citations

Urszula Polak, Ming‐Ming Jiang, John D. Odom, Jill V. Hunter, Saima Ali +8 more

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Genetics in Medicine(2023)10.1016/j.gim.2023.101039

N/A

0DataRank · unranked

12 citations

Sven F. Garbade, Florian Gleich, Svenja Scharré, Jürgen G. Okun, Andrea Gropman +54 more

Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107699

N/A

0DataRank · unranked

5 citations

Charles G. Minard, Ning Liu, Qin Sun, Sarah H. Elsea, Lindsay C. Burrage +2 more

Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.108112

N/A

0DataRank · unranked

6 citations

Sven F. Garbade, Florian Gleich, Sandesh C.S. Nagamani, Andrea Gropman, Friederike Epp +31 more

Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107696

N/A

0DataRank · unranked

6 citations

John R. Barber, Robert McCarter, Anqing Zhang, Natalie M. Gallant, Kara Simpson +7 more

Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood

Calcified Tissue International(2024)10.1007/s00223-024-01236-x

N/A

0DataRank · unranked

12 citations

Bente Langdahl, Lars Folkestad, Lena Lande Wekre, Riley Johnson, Sandesh C.S. Nagamani +6 more

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.007

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0DataRank · unranked

10 citations

Alice M. Tao, Shenzhao Lu, Mengqi Ma, Shabab B. Hannan, Rachel Slaugh +43 more

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect

Journal of Clinical Investigation(2024)10.1172/jci170369

N/A

0DataRank · unranked

10 citations

I-Wen Song, Emily Busse, Megan Washington, Ava S. Berrier, Vittoria Rossi +27 more

Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique

Journal of Bone and Mineral Research(2024)10.1093/jbmr/zjae197

N/A

0DataRank · unranked

5 citations

Siddharth K. Prakash, Sandesh C.S. Nagamani, N.H. Andersen, Erin M. Carter, Jannie Dahl Hald +10 more

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.06.013

N/A

0DataRank · unranked

4 citations

John M. Schreiber, Wei-Liang Chen, John R. Barber, Anqing Zhang, Nicholas Ah Mew +5 more

Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know

Current Osteoporosis Reports(2024)10.1007/s11914-024-00870-6

N/A

0DataRank · unranked

3 citations

Brendan Lee, Sandesh C.S. Nagamani, Emily Busse

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101429

N/A

0DataRank · unranked

0 citations

Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gécz, Renée Carroll +34 more

Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109175

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0DataRank · unranked

0 citations

Aisha Nisar, Anqing Zhang, Sandesh C.S. Nagamani, Nathalie M. Aceves-Ewing, Brandy Rawls +10 more

Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation

Journal of Clinical Investigation(2020)10.1172/jci138935

N/A

0DataRank · unranked

82 citations

Jordan Kho, Brian Dawson, Ming‐Ming Jiang, Yuqing Chen, Saima Ali +8 more

Two commonly reported incidental variants in OTC are associated with late-onset disease

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100531

N/A

0DataRank · unranked

0 citations

Russell S. Lo, Gareth A. Cromie, Aimée M. Dudley, Nicholas Ah Mew, Kara Simpson +9 more

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

Scientific Reports(2020)10.1038/s41598-020-67496-3

N/A

0DataRank · unranked

19 citations

Sven F. Garbade, Florian Gleich, Andrea Gropman, Pascale de Lonlay, Georg F. Hoffmann +58 more