Sandesh CS Nagamani
Baylor College of Medicine
H-index: 42
North America-United States
Top articles of Sandesh CS Nagamani
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders | Molecular Genetics and Metabolism | Roland Posset Sven F Garbade Florian Gleich Sandesh CS Nagamani Andrea L Gropman | 2024/3/1 |
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing | The American Journal of Human Genetics | Shenglan Li Sen Zhao Jefferson C Sinson Aleksandar Bajic Jill A Rosenfeld | 2024/4/3 |
Combination therapy to treat urea cycle disorders | 2024/2/8 | ||
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database | Molecular Genetics & Genomic Medicine | Kuntal Sen Rima Izem Yuelin Long Jiji Jiang Laura L Konczal | 2024/4 |
High prevalence of hepatic fibrosis in liver tissue from individuals with argininosuccinate lyase deficiency | Molecular Genetics and Metabolism | Lindsay Burrage Saima Ali Aisha Nisar Thu Quan Nathalie Aceves | 2024/4/1 |
Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss | Molecular Genetics & Genomic Medicine | Ryan J German Blake Vuocolo Liesbeth Vossaert Nichole Owen Richard A Lewis | 2024/2 |
Improving access to exome sequencing in a medically underserved population through the Texome Project | Genetics in Medicine | Blake Vuocolo Ryan J German Seema R Lalani Chaya N Murali Carlos A Bacino | 2024/2/29 |
O19: Antisense oligonucleotide targeting a linked-SNP provides allele-specific and effective knockdown to a dominant negative SPTAN1 pathogenic variant | Genetics in Medicine Open | Christiana Wang Shenglan Li Sen Zhao Jefferson Sinson Nhi Ho | 2024/1/1 |
Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know | Emily Busse Brendan Lee Sandesh Nagamani | 2024/4/11 | |
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders | Genetics in medicine | Roland Posset Sven F Garbade Florian Gleich Svenja Scharre Jürgen G Okun | 2024/4/1 |
Cranio‐cervical abnormalities in moderate‐to‐severe osteogenesis imperfecta–Genotypic and phenotypic determinants | Orthodontics & Craniofacial Research | Juliana Marulanda Jean‐Marc Retrouvey Brendan Lee V Reid Sutton BBDC | 2024/4 |
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features | The American Journal of Human Genetics | Xueyang Pan Alice M Tao Shenzhao Lu Mengqi Ma Shabab B Hannan | 2024/4/4 |
CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES | Molecular Genetics and Metabolism | Kara Simpson Nicholas Ah Mew Ljubica Caldovic William Craigen Annette Feigenbaum | 2023/3/1 |
Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn | Molecular Genetics and Metabolism | Kevin E Glinton Charles G Minard Ning Liu Qin Sun Sarah H Elsea | 2023/11/1 |
A multicenter study to evaluate pain characteristics in osteogenesis imperfecta | American journal of medical genetics. Part A | Mercedes Rodriguez Celin Karen M Kruger Angela Caudill Chaya N Murali Sandesh CS Nagamani | 2023/1 |
Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders | Molecular Genetics and Metabolism | Chaya N Murali John R Barber Robert McCarter Anqing Zhang Natalie Gallant | 2023/11/1 |
Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression | JCI insight | Jordan Kho Urszula Polak Ming-Ming Jiang John D Odom Jill V Hunter | 2023/9/9 |
A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta | American Journal of Medical Genetics Part A | W Conor Rork Alyssa G Hertz Andrew D Wiese Kristin M Kostick Dianne Nguyen | 2023/9 |
Approach to the patient: pharmacological therapies for fracture risk reduction in adults with osteogenesis imperfecta | Winnie Liu Brendan Lee Sandesh CS Nagamani Lindsey Nicol Frank Rauch | 2023/7 | |
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders | Roland Posset Matthias Zielonka Florian Gleich Sven F Garbade Georg F Hoffmann | 2023/11 |
Co-Authors
