Mahesh Mansukhani
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Explore the profile of Mahesh Mansukhani including associated specialties, affiliations and a list of published articles.
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2497
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Recent Articles
1.
Smithgall M, Kilic A, Weidmann M, Ofori K, Gu Y, Koganti L, et al.
Clin Chem
. 2025 Jan;
71(1):185-191.
PMID: 39749502
Background: Candida auris is an emerging multidrug-resistant pathogen. Interpretation of susceptibility testing can be difficult since minimum inhibitory concentration (MIC) breakpoints have not been fully established. Methods: All C. auris...
2.
Hidalgo-Gutierrez A, Shintaku J, Ramon J, Barriocanal-Casado E, Pesini A, Saneto R, et al.
Ann Neurol
. 2024 Sep;
96(6):1209-1224.
PMID: 39230499
Objective: Mitochondrial DNA (mtDNA) depletion/deletions syndrome (MDDS) comprises a group of diseases caused by primary autosomal defects of mtDNA maintenance. Our objective was to study the etiology of MDDS in...
3.
Velu P, Sipley J, Marino J, Ghanshani S, Lukose G, Cong L, et al.
J Mol Diagn
. 2023 Jul;
25(10):740-747.
PMID: 37474002
An epidemic caused by an outbreak of mpox (formerly monkeypox) in May 2022 rapidly spread internationally, requiring an urgent response from the clinical diagnostics community. A detailed description of the...
4.
Barua S, Hsiao S, Clancy E, Freeman C, Mansukhani M, Fernandes H
J Clin Pathol
. 2022 Nov;
77(1):46-53.
PMID: 36376073
Aims: Targeted next-generation sequencing (NGS) panels, which identify genomic alterations, are the stronghold of molecular oncology laboratories. In spite of technological advances, the quantity and quality of DNA from formalin-fixed...
5.
Pang J, Xia H, Mi S, Zhang W, Pendrick D, Freeman C, et al.
J Clin Pathol
. 2022 Jul;
76(4):276-280.
PMID: 35906043
Tumour mutational burden (TMB) is used to predict response to immunotherapies. Although several groups have proposed calculation methods for TMB, a clear consensus has not yet emerged. In this study,...
6.
Ganapathi M, Thomas-Wilson A, Buchovecky C, Dharmadhikari A, Barua S, Lee W, et al.
Sci Rep
. 2022 Jun;
12(1):9358.
PMID: 35672425
Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected...
7.
Raufi A, May M, Greendyk R, Iuga A, Ahmed F, Mansukhani M, et al.
JCO Precis Oncol
. 2022 Jan;
4:1006-1011.
PMID: 35050766
No abstract available.
8.
Kurtz J, Fernandes Jr J, Mansukhani M, Copeland W, Naini A
Case Rep Genet
. 2021 Nov;
2021():9969071.
PMID: 34777884
Mitochondrial DNA (mtDNA) depletion syndromes are a group of autosomal recessive disorders associated with a spectrum of clinical diseases, which include progressive external ophthalmoplegia (PEO). They are caused by variants...
9.
Smithgall M, Remotti H, Hsiao S, Mansukhani M, Liu-Jarin X, Fernandes H
Hum Pathol
. 2021 Oct;
119:41-50.
PMID: 34666078
Gynecologic cancers are routinely screened for DNA mismatch repair (MMR) gene mutations using immunohistochemistry (IHC) and/or polymerase chain reaction (PCR) for microsatellite instability (MSI) to enable selection of immune checkpoint...
10.
Kushary S, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, et al.
Am J Med Genet A
. 2021 Jul;
185(12):3740-3753.
PMID: 34331327
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is caused by de novo loss-of-function variants in the SON gene (MIM #617140). This multisystemic disorder is characterized by intellectual disability, seizures, abnormal brain imaging, variable dysmorphic...