フォロー
Vivek Appadurai
Vivek Appadurai
University of Copenhagen, Copenhagen DK; Institute of Biological Psychiatry, Sankt Hans, Roskilde DK
確認したメール アドレス: regionh.dk
タイトル
引用先
引用先
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...
Cell 180 (3), 568-584. e23, 2020
17712020
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
MJ Gandal, JR Haney, NN Parikshak, V Leppa, G Ramaswami, C Hartl, ...
Science 359 (6376), 693-697, 2018
9962018
A saturated map of common genetic variants associated with human height
L Yengo, S Vedantam, E Marouli, J Sidorenko, E Bartell, S Sakaue, ...
Nature 610 (7933), 704-712, 2022
3592022
GWAS of suicide attempt in psychiatric disorders and association with major depression polygenic risk scores
N Mullins, TB Bigdeli, AD Børglum, JRI Coleman, D Demontis, D Mehta, ...
American journal of psychiatry 176 (8), 651-660, 2019
2322019
A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment
AJ Schork, H Won, V Appadurai, R Nudel, M Gandal, O Delaneau, ...
Nature neuroscience 22 (3), 353-361, 2019
2012019
Identification of variant-specific functions of PIK3CA by rapid phenotyping of rare mutations
T Dogruluk, YH Tsang, M Espitia, F Chen, T Chen, Z Chong, V Appadurai, ...
Cancer research 75 (24), 5341-5354, 2015
1582015
Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study
A Erlangsen, V Appadurai, Y Wang, G Turecki, O Mors, T Werge, ...
Molecular Psychiatry 25 (10), 2410-2421, 2020
1532020
Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders, and known risk factors
N Mullins, JE Kang, AI Campos, JRI Coleman, AC Edwards, H Galfalvy, ...
Biological psychiatry 91 (3), 313-327, 2022
1472022
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of~ 60,000 human exomes
V Appadurai, A DeBarber, PW Chiang, SB Patel, RD Steiner, C Tyler, ...
Molecular genetics and metabolism 116 (4), 298-304, 2015
962015
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration
X Liu, D Helenius, L Skotte, RN Beaumont, M Wielscher, F Geller, ...
Nature communications 10 (1), 3927, 2019
692019
A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population
R Nudel, Y Wang, V Appadurai, AJ Schork, A Buil, E Agerbo, ...
Translational psychiatry 9 (1), 283, 2019
622019
Population genomics of stone age Eurasia
ME Allentoft, M Sikora, A Refoyo-Martínez, EK Irving-Pease, A Fischer, ...
BioRxiv, 2022.05. 04.490594, 2022
542022
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes
L Skotte, J Fadista, J Bybjerg-Grauholm, V Appadurai, MS Hildebrand, ...
Brain 145 (2), 555-568, 2022
412022
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease
AR Stiles, S Ferdinandusse, A Besse, V Appadurai, KB Leydiker, ...
Molecular genetics and metabolism 115 (4), 161-167, 2015
402015
The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: MoBaPsychGen pipeline v. 1
EC Corfield, AA Shadrin, O Frei, Z Rahman, A Lin, L Athanasiu, ...
BioRxiv, 2022.06. 23.496289, 2022
312022
Population genomics of post-glacial western Eurasia
ME Allentoft, M Sikora, A Refoyo-Martínez, EK Irving-Pease, A Fischer, ...
Nature 625 (7994), 301-311, 2024
292024
GWAS meta-analysis of suicide attempt: identification of 12 genome-wide significant loci and implication of genetic risks for specific health factors
AR Docherty, N Mullins, AE Ashley-Koch, X Qin, JRI Coleman, A Shabalin, ...
American journal of psychiatry 180 (10), 723-738, 2023
282023
Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion
JT Alaimo, A Besse, CL Alston, K Pang, V Appadurai, M Samanta, ...
Human mutation 39 (4), 537-549, 2018
262018
Personalized medicine approach confirms a milder case of ABAT deficiency
A Besse, AK Petersen, JV Hunter, V Appadurai, SR Lalani, PE Bonnen
Molecular brain 9, 1-10, 2016
242016
Genetic predictors of educational attainment and intelligence test performance predict voter turnout
L Aarøe, V Appadurai, KM Hansen, AJ Schork, T Werge, O Mors, ...
Nature Human Behaviour 5 (2), 281-291, 2021
232021
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