Kishore R Kumar
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Explore the profile of Kishore R Kumar including associated specialties, affiliations and a list of published articles.
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85
Citations
1296
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Recent Articles
11.
Siow S, Waters A, Coward S, Wali G, Ng K, Sue C, et al.
J Neurol Sci
. 2024 Jun;
462:123100.
PMID: 38914513
No abstract available.
12.
Grosz B, Parmar J, Ellis M, Bryen S, Simons C, Reis A, et al.
J Peripher Nerv Syst
. 2024 Jun;
29(2):262-274.
PMID: 38860315
Background: Loss-of-function variants in MME (membrane metalloendopeptidase) are a known cause of recessive Charcot-Marie-Tooth Neuropathy (CMT). A deep intronic variant, MME c.1188+428A>G (NM_000902.5), was identified through whole genome sequencing (WGS)...
13.
Fellner A, Wali G, Mahant N, Grosz B, Ellis M, Narayanan R, et al.
Parkinsonism Relat Disord
. 2024 May;
124:107010.
PMID: 38772265
Purpose: We investigated the contribution of genomic data reanalysis to the diagnostic yield of dystonia patients who remained undiagnosed after prior genome sequencing. Methods: Probands with heterogeneous dystonia phenotypes who...
14.
Kumar K, Cowley M, Davis R
Semin Thromb Hemost
. 2024 May;
50(7):1039-1046.
PMID: 38733978
No abstract available.
15.
Kumar K, Cowley M, Davis R
Semin Thromb Hemost
. 2024 May;
50(7):1026-1038.
PMID: 38692283
Genetic sequencing technologies are evolving at a rapid pace with major implications for research and clinical practice. In this review, the authors provide an updated overview of next-generation sequencing (NGS)...
16.
Parmar J, McNamara E, Lamont P, Kumar K, Rick A, Stoll M, et al.
Neurol Genet
. 2024 Apr;
10(3):e200152.
PMID: 38685974
Objectives: To report novel biallelic variants in a family presenting with pure hereditary spastic paraparesis. Methods: Two affected sisters presented with unsolved hereditary spastic paraparesis and underwent clinical and imaging...
17.
Junker J, Lange L, Vollstedt E, Roopnarain K, Doquenia M, Ahmad Annuar A, et al.
medRxiv
. 2024 Mar;
PMID: 38529492
Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first systematic...
18.
El-Wahsh S, Fellner A, Hobbs M, Copty J, Deveson I, Stevanovski I, et al.
Mov Disord Clin Pract
. 2024 Mar;
11(5):582-585.
PMID: 38497520
No abstract available.
19.
Yeow D, Rudaks L, Siow S, Davis R, Kumar K
Tremor Other Hyperkinet Mov (N Y)
. 2024 Jan;
14:2.
PMID: 38222898
Highlights: The utility of genetic testing extends across multiple clinical and non-clinical domains. Here we review different aspects of the utility of genetic testing for movement disorders and the numerous...
20.
Cetin I, Carlson S, Burden C, da Fonseca E, Di Renzo G, Hadjipanayis A, et al.
Am J Obstet Gynecol MFM
. 2023 Dec;
6(2):101251.
PMID: 38070679
This clinical practice guideline on the supply of the omega-3 docosahexaenoic acid and eicosapentaenoic acid in pregnant women for risk reduction of preterm birth and early preterm birth was developed...