V Shashi
Overview
Explore the profile of V Shashi including associated specialties, affiliations and a list of published articles.
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31
Citations
379
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Recent Articles
1.
Greene C, Kealy J, Humphries M, Gong Y, Hou J, Hudson N, et al.
Mol Psychiatry
. 2017 Oct;
23(11):2156-2166.
PMID: 28993710
Schizophrenia is a neurodevelopmental disorder that affects up to 1% of the general population. Various genes show associations with schizophrenia and a very weak nominal association with the tight junction...
2.
Guipponi M, Santoni F, Schneider M, Gehrig C, Bustillo X, Kates W, et al.
Transl Psychiatry
. 2017 Feb;
7(2):e1039.
PMID: 28221368
The velo-cardio-facial syndrome (VCFS) is caused by hemizygous deletions on chromosome 22q11.2. The VCFS phenotype is complex and characterized by frequent occurrence of neuropsychiatric symptoms with up to 25-30% of...
3.
Shashi V, Harrell W, Eack S, Sanders C, McConkie-Rosell A, Keshavan M, et al.
J Intellect Disabil Res
. 2015 Apr;
59(10):902-13.
PMID: 25871427
Background: Children with chromosome 22q11.2 deletion syndrome (22q11DS) often have deficits in social cognition and social skills that contribute to poor adaptive functioning. These deficits may be of relevance to...
4.
Williams C, Jiang Y, Shashi V, Crimian R, Schoch K, Harper A, et al.
Clin Genet
. 2015 Apr;
88(6):597-9.
PMID: 25823418
No abstract available.
5.
Shashi V, McConkie-Rosell A, Schoch K, Kasturi V, Rehder C, Jiang Y, et al.
Clin Genet
. 2015 Feb;
89(2):173-81.
PMID: 25678066
Despite the exciting advent of whole-exome sequencing (WES) in medical genetics practices, the optimal interpretation of results requires further actions such as reconsidering clinical information and obtaining further laboratory testing....
6.
Shashi V, Xie P, Schoch K, Goldstein D, Howard T, Berry M, et al.
Clin Genet
. 2014 Sep;
88(4):386-90.
PMID: 25256757
A novel X-linked intellectual disability (XLID) syndrome with moderate intellectual disability and distinguishing craniofacial dysmorphisms had been previously mapped to the Xq26-q27 interval. On whole exome sequencing in the large...
7.
Goodwin J, Schoch K, Shashi V, Hooper S, Morad O, Zalevsky M, et al.
J Intellect Disabil Res
. 2014 Jul;
59(5):474-86.
PMID: 25059276
Background: Research suggests children with genetic disorders exhibit greater coping skills when they are aware of their condition and its heritability. While the experiences parents have at diagnosis may influence...
8.
Allen T, Hersh J, Schoch K, Curtiss K, Hooper S, Shashi V
J Intellect Disabil Res
. 2013 Jun;
58(1):31-47.
PMID: 23742203
Background: Children with 22q11.2 deletion syndrome (22q11DS) are at risk for social-behavioural and neurocognitive sequelae throughout development. The current study examined the impact of family environmental characteristics on social-behavioural and...
9.
Alders M, Mendola A, Ades L, Al Gazali L, Bellini C, Dallapiccola B, et al.
Mol Syndromol
. 2013 May;
4(3):107-13.
PMID: 23653581
The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology,...
10.
Das Chakraborty R, Chakraborty D, Bernal A, Schoch K, Howard T, Ip E, et al.
Transl Psychiatry
. 2012 Jul;
2:e105.
PMID: 22832905
Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans. It is typified by highly variable symptoms, which might be explained by epigenetic regulation of genes in...