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» Authors » Vinod Varghese

Vinod Varghese

Explore the profile of Vinod Varghese including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 15
Citations 228
Followers 0
Related Specialties
Genetics
Psychiatry
Neurology
Top 10 Co-Authors
Melissa Lees
Ruth Newbury-Ecob
Ajith Kumar
Pengfei Liu
Lionel Van Maldergem
Peter D Turnpenny
Shane McKee
Mohnish Suri
Jill A Rosenfeld
Daryl A Scott
Published In
Indian J Psychol Med
Genet Med
Genome Med
Am J Med Genet A
Neurol India
Affiliations
Soon will be listed here.
Recent Articles
1.
variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways
Magrinelli F, Tesson C, Angelova P, Salazar-Villacorta A, Rodriguez J, Scardamaglia A, et al.
medRxiv . 2024 Aug; PMID: 39148840
Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers...
2.
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review
Pacot L, Girish M, Knight S, Spurlock G, Varghese V, Ye M, et al.
BMC Med Genomics . 2024 Mar; 17(1):73. PMID: 38448973
About 5-10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 ...
3.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
Hardcastle A, Berry A, Campbell I, Zhao X, Liu P, Gerard A, et al.
Am J Med Genet A . 2022 Jul; 188(10):2958-2968. PMID: 35904974
Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This...
4.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, et al.
Genet Med . 2020 Oct; 23(2):352-362. PMID: 33106617
Purpose: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we...
5.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review
Durkin A, Albaba S, Fry A, Morton J, Douglas A, Beleza A, et al.
Am J Med Genet A . 2020 Apr; 182(7):1637-1654. PMID: 32319732
With advances in genetic testing and improved access to such advances, whole exome sequencing is becoming a first-line investigation in clinical work-up of children with developmental delay/intellectual disability (ID). As...
6.
A clinical scoring system for congenital contractural arachnodactyly
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, et al.
Genet Med . 2019 Jul; 22(1):124-131. PMID: 31316167
Purpose: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical...
7.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
Jeffries A, Maroofian R, Salter C, Chioza B, Cross H, Patton M, et al.
Genome Res . 2019 Jun; 29(7):1057-1066. PMID: 31160375
Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3 alpha () are commonly associated with growth disorders, whereas somatic mutations are often associated with malignancy. We profiled genome-wide...
8.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Vetrini F, McKee S, Rosenfeld J, Suri M, Lewis A, Nugent K, et al.
Genome Med . 2019 Mar; 11(1):16. PMID: 30909959
It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised...
9.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Vetrini F, McKee S, Rosenfeld J, Suri M, Lewis A, Nugent K, et al.
Genome Med . 2019 Mar; 11(1):12. PMID: 30819258
Background: Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifestations with variants in a large...
10.
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with constitutive variants
Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, et al.
Wellcome Open Res . 2018 Jun; 3:46. PMID: 29900417
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous...