Shruthi Mohan
Overview
Explore the profile of Shruthi Mohan including associated specialties, affiliations and a list of published articles.
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Articles
78
Citations
275
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0
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Recent Articles
1.
Nieto-Patlan A, Ross J, Mohan S, Paczosa M, Soliman R, Sarmento O, et al.
J Allergy Clin Immunol
. 2025 Jan;
PMID: 39826876
Background: The Clinical Genome Resource (ClinGen) is an international collaborative effort among scientists and clinicians, diagnostic and research laboratories, and the patient community. Using a standardized framework, ClinGen has established...
2.
Groopman E, Mohan S, Waddell A, Wilke M, Fernandez R, Weaver M, et al.
Mol Genet Metab
. 2024 Oct;
143(3):108593.
PMID: 39426251
Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted...
3.
Machado Bressan Wilke M, Goldstein J, Groopman E, Mohan S, Waddell A, Fernandez R, et al.
Mol Genet Metab
. 2024 Sep;
143(1-2):108572.
PMID: 39265286
Introduction: Diseases caused by lysosomal dysfunction often exhibit multisystemic involvement, resulting in substantial morbidity and mortality. Ensuring accurate diagnoses for individuals with lysosomal diseases (LD) is of great importance, especially...
4.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, et al.
Ann Clin Transl Neurol
. 2024 Aug;
11(9):2268-2276.
PMID: 39215466
Objective: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age...
5.
Groopman E, Mohan S, Waddell A, Wilke M, Fernandez R, Weaver M, et al.
medRxiv
. 2024 Aug;
PMID: 39211849
Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted...
6.
Mahindroo S, Mohan S, Dance S, OMara A, Elabd A, Tabaie S
Cureus
. 2024 Jun;
16(6):e61998.
PMID: 38855499
Introduction Musculoskeletal (MSK) infections are prevalent in the pediatric population, with previous research highlighting the significant impact of socioeconomic status (SES) on treatment outcomes. However, the specific link in pediatric...
7.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, et al.
bioRxiv
. 2024 May;
PMID: 38765987
Introduction: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age...
8.
Ross J, Mohan S, Zhang J, Sullivan M, Bury L, Lee K, et al.
J Thromb Haemost
. 2023 Nov;
22(3):645-665.
PMID: 38016518
Background: Inherited bleeding, thrombotic, and platelet disorders (BTPDs) are a heterogeneous set of diseases, many of which are very rare globally. Over the past 5 decades, the genetic basis of...
9.
Hasson D, Mohan S, Rose J, Merrill K, Goldstein S, Benoit S, et al.
Ann Lab Med
. 2023 Sep;
44(1):21-28.
PMID: 37665282
Background: Abnormal serum magnesium (Mg) concentrations are common and associated with worse mortality in kidney-transplant recipients. Many kidney and transplant-related factors affect Mg homeostasis. The concentration of the active form,...
10.
Giorgi A, Cer A, Mohan S, Perreault M
J Neurosci
. 2023 Jun;
43(27):5014-5029.
PMID: 37286348
The limited information about how descending inputs from the brain and sensory inputs from the periphery use spinal cord interneurons (INs) is a major barrier to understanding how these inputs...