Shrikant Mane
Overview
Explore the profile of Shrikant Mane including associated specialties, affiliations and a list of published articles.
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Articles
138
Citations
11809
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Recent Articles
1.
Dong W, Jin S, Sierant M, Lu Z, Li B, Lu Q, et al.
Proc Natl Acad Sci U S A
. 2025 Mar;
122(10):e2419992122.
PMID: 40030011
Variants with large effect contribute to congenital heart disease (CHD). To date, recessive genotypes (RGs) have commonly been implicated through anecdotal ascertainment of consanguineous families and candidate gene-based analysis; the...
2.
Zhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, et al.
Nature
. 2025 Jan;
638(8049):172-181.
PMID: 39743596
Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure...
3.
Schneider R, Shril S, Buerger F, Deutsch K, Yousef K, Frank C, et al.
Genes Dis
. 2024 Nov;
12(2):101280.
PMID: 39584075
No abstract available.
4.
Nowak J, Twombly T, Ma C, Shi Q, Haruki K, Fujiyoshi K, et al.
J Clin Oncol
. 2024 Jun;
42(24):2853-2859.
PMID: 38889377
Clinical trials frequently include multiple end points that mature at different times. The initial report, typically based on the primary end point, may be published when key planned co-primary or...
5.
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...
6.
Hwang J, Chai P, Nawaz S, Choi J, Lopez-Giraldez F, Hussain S, et al.
Elife
. 2023 Dec;
12.
PMID: 38091523
Radial spokes (RS) are T-shaped multiprotein complexes on the axonemal microtubules. Repeated RS1, RS2, and RS3 couple the central pair to modulate ciliary and flagellar motility. Despite the cell type...
7.
Zhao S, Mekbib K, van der Ent M, Allington G, Prendergast A, Chau J, et al.
Nat Commun
. 2023 Nov;
14(1):7452.
PMID: 37978175
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family...
8.
Ben-Moshe Y, Shlomovitz O, Atias-Varon D, Haskin O, Ben-Shalom E, Lavsky H, et al.
Kidney Int Rep
. 2023 Oct;
8(10):2126-2135.
PMID: 37850020
Introduction: Genetic etiologies are estimated to account for a large portion of chronic kidney diseases (CKD) in children. However, data are lacking regarding the true prevalence of monogenic etiologies stemming...
9.
Ahram D, Lim T, Ke J, Jin G, Verbitsky M, Bodria M, et al.
J Am Soc Nephrol
. 2023 Mar;
34(6):1105-1119.
PMID: 36995132
Significance Statement: Congenital obstructive uropathy (COU) is a prevalent human developmental defect with highly heterogeneous clinical presentations and outcomes. Genetics may refine diagnosis, prognosis, and treatment, but the genomic architecture...
10.
Zhao S, Mekbib K, van der Ent M, Allington G, Prendergast A, Chau J, et al.
bioRxiv
. 2023 Mar;
PMID: 36993588
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and severe congenital brain arteriovenous malformation, we performed an integrated analysis of 310 VOGM proband-family exomes and...