Avinash V Dharmadhikari
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Explore the profile of Avinash V Dharmadhikari including associated specialties, affiliations and a list of published articles.
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22
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Recent Articles
1.
Hahn E, Dharmadhikari A, Markowitz A, Estrine D, Quindipan C, Maggo S, et al.
NPJ Genom Med
. 2025 Feb;
10(1):16.
PMID: 39984494
Exome sequencing is the current standard for diagnosing Mendelian disorders; however, it is generally not considered the first-line test for detecting copy number variants (CNVs). We retrospectively investigated the additional...
2.
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
Nat Commun
. 2025 Feb;
16(1):1703.
PMID: 39962046
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by...
3.
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
medRxiv
. 2024 Jan;
PMID: 38260255
encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by gene...
4.
Dharmadhikari A, Pereira E, Andrews C, Macera M, Harkavy N, Wapner R, et al.
Front Genet
. 2022 Aug;
13:906077.
PMID: 35928455
Partial tetrasomy of distal 13q has a reported association with a variable phenotype including microphthalmia, ear abnormalities, hypotelorism, facial dysmorphisms, urogenital defects, pigmentation and skin defects, and severe learning difficulties....
5.
Rooney Riggs E, Bingaman T, Barry C, Behlmann A, Bluske K, Bostwick B, et al.
Genet Med
. 2022 May;
24(9):1899-1908.
PMID: 35616647
Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical...
6.
Thomas-Wilson A, Dharmadhikari A, Heymann J, Jobanputra V, DiMauro S, Hirano M, et al.
Cold Spring Harb Mol Case Stud
. 2022 Jan;
8(2).
PMID: 35022222
McArdle disease is a debilitating glycogen storage disease with typical onset in childhood. Here, we describe a former competitive athlete with early adult-onset McArdle disease and a septuagenarian with a...
7.
Abdelhakim A, Dharmadhikari A, Ragi S, Lima de Carvalho Jr J, Xu C, Thomas A, et al.
Orphanet J Rare Dis
. 2020 Nov;
15(1):320.
PMID: 33187544
Background: Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has also been...
8.
Stanley K, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, et al.
N Engl J Med
. 2020 Aug;
383(12):1107-1116.
PMID: 32786180
Background: In the majority of cases, the cause of stillbirth remains unknown despite detailed clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to chromosomal abnormalities. However,...
9.
Dharmadhikari A, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, et al.
Genome Med
. 2019 May;
11(1):30.
PMID: 31101064
Background: Exome sequencing (ES) has been successfully applied in clinical detection of single nucleotide variants (SNVs) and small indels. However, identification of copy number variants (CNVs) using ES data remains...
10.
Normand E, Braxton A, Nassef S, Ward P, Vetrini F, He W, et al.
Genome Med
. 2018 Sep;
10(1):74.
PMID: 30266093
Background: Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is...