Vinodh Narayanan
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Explore the profile of Vinodh Narayanan including associated specialties, affiliations and a list of published articles.
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81
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1410
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Recent Articles
1.
Verbinnen I, Douzgou Houge S, Hsieh T, Lesmann H, Kirchhoff A, Genevieve D, et al.
Am J Hum Genet
. 2025 Feb;
112(3):554-571.
PMID: 39978342
Pathogenic variants resulting in protein phosphatase 2A (PP2A) dysfunction result in mild to severe neurodevelopmental delay. PP2A is a trimer of a catalytic (C) subunit, scaffolding (A) subunit, and substrate...
2.
Weisz-Hubshman M, Burrage L, Jangam S, Rosenfeld J, von Hardenberg S, Bergmann A, et al.
Genet Med
. 2025 Feb;
27(4):101369.
PMID: 39891528
Purpose: Polycomb group proteins are key epigenetic transcriptional regulators. Multiple neurodevelopmental disorders are associated with pathogenic variants of the genes encoding Polycomb group proteins. RYBP is a core component of...
3.
Jepsen W, Fazenbaker A, Ramsey K, Bonfitto A, Naymik M, Turner B, et al.
Int J Mol Sci
. 2024 Nov;
25(22).
PMID: 39595988
Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by the absence of a fully functional dystrophin protein in myocytes. In skeletal muscle, the lack of dystrophin ultimately results...
4.
Grange D, Wegner D, Wambach J, Sisco K, Stone S, Sheehan J, et al.
Am J Med Genet A
. 2024 Aug;
197(1):e63854.
PMID: 39166407
We report three unrelated individuals with atypical clinical findings for cardio-facio-cutaneous (CFC) syndrome, all of whom have the same novel, heterozygous de novo p.H119Y (c.355 C>T) transition variant in MAP2K1,...
5.
Werren E, Peirent E, Jantti H, Guxholli A, Srivastava K, Orenstein N, et al.
Cell Death Dis
. 2024 May;
15(5):379.
PMID: 38816421
CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central...
6.
Leung M, Sanchez-Castillo M, Belnap N, Naymik M, Bonfitto A, Sloan J, et al.
Rare
. 2024 May;
2.
PMID: 38770537
Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay...
7.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, et al.
Clin Genet
. 2024 May;
106(1):114-115.
PMID: 38715525
FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and...
8.
Bijlani S, Pang K, Bugga L, Rangasamy S, Narayanan V, Chatterjee S
Front Genome Ed
. 2024 Mar;
6:1346781.
PMID: 38495533
Rett syndrome is an acquired progressive neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene which encodes a pleiotropic protein that functions as a global transcriptional regulator and a...
9.
Mah-Som A, Daw J, Huynh D, Wu M, Creekmore B, Burns W, et al.
Am J Hum Genet
. 2023 Oct;
110(11):1959-1975.
PMID: 37883978
Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants in VCP are associated with adult-onset multisystem proteinopathy (MSP), which manifests...
10.
Belnap N, Price-Smith A, Ramsey K, Leka K, Abraham A, Lieberman E, et al.
Clin Genet
. 2023 Jul;
104(5):607-609.
PMID: 37491870
Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter...