Shalini C Reshmi
Overview
Explore the profile of Shalini C Reshmi including associated specialties, affiliations and a list of published articles.
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32
Citations
1092
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Recent Articles
11.
Kraft M, Mehyar L, Prince B, Reshmi S, Abraham R, Abu-Arja R
J Clin Immunol
. 2021 Feb;
41(5):1089-1094.
PMID: 33544358
No abstract available.
12.
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio F, Cecchetti S, et al.
Am J Hum Genet
. 2020 Jul;
107(3):499-513.
PMID: 32721402
Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-associated protein kinase (MAPK) cascade, mediates multiple cellular processes and participates in early and late developmental programs. Aberrant signaling through this...
13.
Miller C, Lee K, Pfau R, Reshmi S, Corsmeier D, Hashimoto S, et al.
Cold Spring Harb Mol Case Stud
. 2020 May;
6(3).
PMID: 32371413
Exome sequencing (ES) has become an important tool in pediatric genomic medicine, improving identification of disease-associated variation due to assay breadth. Depth is also afforded by ES, enabling detection of...
14.
Bennett J, Bernhardt M, McBride K, Reshmi S, Zmuda E, Kertesz N, et al.
Pediatr Cardiol
. 2019 Sep;
40(8):1679-1687.
PMID: 31535183
Genetic testing is important to augment clinical diagnosis and inform management of inherited arrhythmias syndromes (IAS), but variants of uncertain significance (VUS) are common and remain a challenge in clinical...
15.
Gu Z, Churchman M, Roberts K, Moore I, Zhou X, Nakitandwe J, et al.
Nat Genet
. 2019 Jan;
51(2):296-307.
PMID: 30643249
Recent genomic studies have identified chromosomal rearrangements defining new subtypes of B-progenitor acute lymphoblastic leukemia (B-ALL), however many cases lack a known initiating genetic alteration. Using integrated genomic analysis of...
16.
Roberts K, Reshmi S, Harvey R, Chen I, Patel K, Stonerock E, et al.
Blood
. 2018 Jul;
132(8):815-824.
PMID: 29997224
Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL; --like ALL) in children with National Cancer Institute (NCI) intermediate- or high-risk (HR) ALL is associated with poor outcome. Ph-like ALL is characterized...
17.
Barrie E, Li Y, Lamb-Thrush D, Hashimoto S, Matthews T, Mouhlas D, et al.
Eur J Med Genet
. 2018 Mar;
61(7):416-420.
PMID: 29572065
Purpose: While chromosomal regions of homozygosity (ROH) may implicate genes in known recessive disorders, their correlation to disease pathogenicity remains unclear. ROH around the centromere of the X chromosome (pericentromeric,...
18.
Tran T, Harris M, Nguyen J, Blonquist T, Stevenson K, Stonerock E, et al.
Blood Adv
. 2018 Mar;
2(5):529-533.
PMID: 29507076
Recurrent chromosomal rearrangements carry prognostic significance in pediatric B-lineage acute lymphoblastic leukemia (B-ALL). Recent genome-wide analyses identified a high-risk B-ALL subtype characterized by a diverse spectrum of genetic alterations activating...
19.
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy
Santoro S, Hashimoto S, McKinney A, Mosher T, Pyatt R, Reshmi S, et al.
Cytogenet Genome Res
. 2017 Jul;
152(2):105-109.
PMID: 28746920
Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ...
20.
Reshmi S, Harvey R, Roberts K, Stonerock E, Smith A, Jenkins H, et al.
Blood
. 2017 Apr;
129(25):3352-3361.
PMID: 28408464
Philadelphia chromosome-like (Ph-like) acute lymphoblastic leukemia (ALL) is a high-risk subtype characterized by genomic alterations that activate cytokine receptor and kinase signaling. We examined the frequency and spectrum of targetable...