Pradeep Vasudevan
Overview
Explore the profile of Pradeep Vasudevan including associated specialties, affiliations and a list of published articles.
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Citations
911
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Recent Articles
1.
Copeland H, Low K, Wynn S, Ahmed A, Arthur V, Balasubramanian M, et al.
Genet Med Open
. 2025 Jan;
2():101864.
PMID: 39822267
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study. Methods: Individuals in the Deciphering Developmental Disorders study who had a...
2.
Blanco E, Camps C, Bahal S, Kerai M, Ferla M, Rochussen A, et al.
J Exp Med
. 2024 Nov;
222(1).
PMID: 39560673
The importance of calcium (Ca2+) as a second messenger in T cell signaling is exemplified by genetic deficiencies of STIM1 and ORAI1, which abolish store-operated Ca2+ entry (SOCE) resulting in...
3.
Greene D, De Wispelaere K, Lees J, Katrinecz A, Pascoal S, Hales E, et al.
medRxiv
. 2024 Sep;
PMID: 39281759
The major spliceosome comprises the five snRNAs U1, U2, U4, U5 and U6. We recently showed that mutations in 2, which encodes U4 snRNA, cause one of the most prevalent...
4.
Yoon J, Lim S, Seo H, Lee S, Cho J, Kim S, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1588-1604.
PMID: 39047730
Histone deacetylase 3 (HDAC3) is a crucial epigenetic modulator essential for various developmental and physiological functions. Although its dysfunction is increasingly recognized in abnormal phenotypes, to our knowledge, there have...
5.
Rots D, Choufani S, Faundes V, Dingemans A, Joss S, Foulds N, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1626-1642.
PMID: 39013459
Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and molecular spectrums...
6.
Rots D, Bouman A, Yamada A, Levy M, Dingemans A, de Vries B, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1605-1625.
PMID: 39013458
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1...
7.
Chen Y, Dawes R, Kim H, Ljungdahl A, Stenton S, Walker S, et al.
Nature
. 2024 Jul;
632(8026):832-840.
PMID: 38991538
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in...
8.
Peter M, Mellis R, McInnes-Dean H, Daniel M, Walton H, Fisher J, et al.
Front Genet
. 2024 Jun;
15:1401705.
PMID: 38903755
Introduction: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine...
9.
Paul M, Michener S, Pan H, Chan H, Pfliger J, Rosenfeld J, et al.
Am J Hum Genet
. 2024 May;
111(6):1239.
PMID: 38723631
No abstract available.
10.
Paul M, Michener S, Pan H, Chan H, Pfliger J, Rosenfeld J, et al.
Am J Hum Genet
. 2024 Mar;
111(4):805.
PMID: 38508193
No abstract available.