Surabhi Mulchandani
Overview
Explore the profile of Surabhi Mulchandani including associated specialties, affiliations and a list of published articles.
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18
Citations
496
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Recent Articles
11.
Kalish J, Conlin L, Bhatti T, Dubbs H, Harris M, Izumi K, et al.
Am J Med Genet A
. 2013 Jun;
161A(8):1929-39.
PMID: 23804593
Here we describe three subjects with mosaic genome-wide paternal uniparental isodisomy (GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and hyperinsulinism (HI). Due to the severity of findings...
12.
Reiff M, Bernhardt B, Mulchandani S
LDI Issue Brief
. 2013 Apr;
18(4):1-4.
PMID: 23610795
New technologies have given us the ability to detect genomic variation at resolutions 50-100 times greater than earlier tests. The good news is that we can now detect variations that...
13.
Kalish J, Conlin L, Mostoufi-Moab S, Wilkens A, Mulchandani S, Zelley K, et al.
Am J Med Genet A
. 2013 Mar;
161A(5):993-1001.
PMID: 23532898
We report on a patient with early onset pediatric bilateral pheochromocytomas caused by mosaic chromosome 11p15 paternal uniparental isodisomy (UPD). Hemihyperplasia of the arm was diagnosed in a 4-month-old female...
14.
Izumi K, Santani A, Deardorff M, Feret H, Tischler T, Thiel B, et al.
Am J Med Genet A
. 2012 Dec;
161A(1):166-71.
PMID: 23225330
Prader-Willi syndrome is caused by the loss of paternal gene expression on 15q11.2-q13.2, and one of the mechanisms resulting in Prader-Willi syndrome phenotype is maternal uniparental disomy of chromosome 15....
15.
DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, et al.
Am J Med Genet A
. 2012 Aug;
158A(9):2152-61.
PMID: 22847950
We describe 19 unrelated individuals with submicroscopic deletions involving 10p15.3 characterized by chromosomal microarray (CMA). Interestingly, to our knowledge, only two individuals with isolated, submicroscopic 10p15.3 deletion have been reported...
16.
Reiff M, Bernhardt B, Mulchandani S, Soucier D, Cornell D, Pyeritz R, et al.
Genet Med
. 2012 Jan;
14(2):250-8.
PMID: 22241091
Purpose: The increased sensitivity of chromosomal microarray (CMA) technology as compared with traditional cytogenetic analysis allows for improved detection of genomic alterations. However, there is potential for uncertainty in the...
17.
Daber R, Chapman K, Ruchelli E, Kasperski S, Mulchandani S, Thiel B, et al.
Am J Med Genet A
. 2011 Oct;
155A(10):2489-95.
PMID: 21998853
Mosaic trisomy 17 is rare with only 28 cases reported and the clinical presentation is highly variable. The diagnosis is most commonly made by prenatal karyotype and in most cases...
18.
Li F, Shen Y, Kohler U, Sharkey F, Menon D, Coulleaux L, et al.
Eur J Med Genet
. 2010 Feb;
53(2):93-9.
PMID: 20132918
The use of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays has dramatically altered the approach to identification of genetic alterations that can explain intellectual disability and /or...