Ashwin Dalal
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Explore the profile of Ashwin Dalal including associated specialties, affiliations and a list of published articles.
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Articles
133
Citations
877
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Recent Articles
1.
Wijekoon N, Gonawala L, Ratnayake P, Sirisena D, Gunasekara H, Dissanayake A, et al.
Front Mol Neurosci
. 2025 Jan;
17:1482999.
PMID: 39866907
Introduction: To further advance our understanding of Muscular Dystrophies (MDs) and Spinocerebellar Ataxias (SCAs), it is necessary to identify the biological patterns associated with disease pathology. Although progress has been...
2.
Garg N, Lakshmi P, Singh S, Kulshreshta S, Ranganath P, Moirangthem A, et al.
Clin Genet
. 2025 Jan;
PMID: 39806532
In 2021, the Indian Undiagnosed Diseases Program was initiated for patients without a definite diagnosis despite extensive evaluation in four participating sites. Between February 2021 and March 2023, a total...
3.
Jacob P, Singh S, Bhavani G, Gowrishankar K, Narayanan D, Nampoothiri S, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39706863
Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles....
4.
Sarma A, Desai A, Rao M, Sahoo J, Shivaprasad C, Ranganath P, et al.
Horm Res Paediatr
. 2024 Jul;
:1-9.
PMID: 38986456
Introduction: Thyroid dyshormonogenesis (TDH) is a subgroup of congenital hypothyroidism with recessive inheritance resulting from disease-causing variants in thyroid hormone biosynthesis pathway genes, like DUOX2, TG, TPO, SLC5A5, SLC26A4, IYD,...
5.
Mathew R, Raghavendra P, Disha B, Dalal A, Govindaraj P
Am J Med Genet A
. 2024 Jul;
194(11):e63809.
PMID: 38949089
Carbonic anhydrase 5A (CA5A) belongs to a family of carbonic anhydrases which are zinc metalloenzymes involved in the reversible hydration of CO to bicarbonate. Mutations in CA5A are very rare...
6.
Pragna Lakshmi T, Saini N, Shah M, Gowrishankar S, Dalal A, Ranganath P
Clin Genet
. 2024 Jun;
106(4):494-499.
PMID: 38860410
Variants in more than 60 different genes, most of which code for podocyte-related proteins, have been found to be associated with monogenic forms of nephrotic syndrome (NS). Biallelic variants in...
7.
Aggarwal S, Vineeth V, Padwal S, Bhat S, Singh A, Kulkarni A, et al.
Clin Genet
. 2024 Jun;
106(3):367-373.
PMID: 38831697
SERPINA11 is a hitherto poorly characterised gene belonging to Clade A of the SERPIN superfamily, with unknown expression pattern and functional significance. We report a perinatal lethal phenotype in two...
8.
Sheth H, Nair A, Bhavsar R, Kamate M, Gowda V, Bavdekar A, et al.
Hum Genomics
. 2024 May;
18(1):46.
PMID: 38730490
Background: Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly due...
9.
Singh S, Shah H, Dalal A, Shukla A, Bhavani G, Girisha K
Am J Med Genet A
. 2024 Apr;
194(8):e63601.
PMID: 38562122
Biallelic variants in RSPRY1 have been found to result in spondyloepimetaphyseal dysplasia. Two siblings presenting with short stature, facial dysmorphism, progressive vertebral defects, small epiphysis, cupping and fraying of metaphyses,...
10.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, de Tayrac M, Carre W, et al.
Genet Med
. 2024 Mar;
26(7):101126.
PMID: 38529886
Purpose: DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog, a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a...