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Rachita Yadav

Explore the profile of Rachita Yadav including associated specialties, affiliations and a list of published articles. Areas
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Articles 36
Citations 1409
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Recent Articles
1.
Kambali M, Li Y, Unichenko P, Feria Pliego J, Yadav R, Liu J, et al.
Mol Psychiatry . 2024 Aug; 30(3):927-942. PMID: 39210012
Glycine is an obligatory co-agonist at excitatory NMDA receptors in the brain, especially in the dentate gyrus, which has been postulated to be crucial for the development of psychotic associations...
2.
Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, et al.
Sci Rep . 2024 May; 14(1):10103. PMID: 38698036
No abstract available.
3.
Tai D, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, et al.
Am J Hum Genet . 2024 Mar; 111(3):619. PMID: 38458168
No abstract available.
4.
Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, et al.
Sci Rep . 2024 Jan; 14(1):570. PMID: 38177237
Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 (ELP1) gene. This mutation results in a tissue-specific reduction...
5.
Nuttle X, Burt N, Currall B, Moyses-Oliveira M, Mohajeri K, Bhavsar R, et al.
Cell Rep Methods . 2023 Dec; 4(1):100672. PMID: 38091988
New technologies and large-cohort studies have enabled novel variant discovery and association at unprecedented scale, yet functional characterization of these variants remains paramount to deciphering disease mechanisms. Approaches that facilitate...
6.
Miltenberger-Miltenyi G, Ortega R, Domingo A, Yadav R, Nishiyama A, Raymond D, et al.
NPJ Parkinsons Dis . 2023 Dec; 9(1):160. PMID: 38062033
There is a paucity of genetic characterization in people with Parkinson's disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants in 32 New Yorkers of Puerto Rican...
7.
Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, et al.
bioRxiv . 2023 Oct; PMID: 37808686
Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 ( ) gene. This mutation results in a tissue-specific...
8.
Kambali M, Li Y, Unichenko P, Pliego J, Yadav R, Liu J, et al.
bioRxiv . 2023 Jul; PMID: 37398055
The biological significance of a small supernumerary marker chromosome that results in dosage alterations to chromosome 9p24.1, including triplication of the gene encoding glycine decarboxylase, in two patients with psychosis...
9.
Mohajeri K, Yadav R, Dhaene E, Boone P, Erdin S, Gao D, et al.
Am J Hum Genet . 2022 Oct; 109(11):2049-2067. PMID: 36283406
Point mutations and structural variants that directly disrupt the coding sequence of MEF2C have been associated with a spectrum of neurodevelopmental disorders (NDDs). However, the impact of MEF2C haploinsufficiency on...
10.
Weiner D, Ling E, Erdin S, Tai D, Yadav R, Grove J, et al.
Nat Genet . 2022 Oct; 54(11):1630-1639. PMID: 36280734
The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we demonstrate...