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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 | 1041 | 2018 |
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 | 487 | 2022 |
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 | 244 | 2019 |
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 | 208 | 2019 |
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 | 177 | 2022 |
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 | 166 | 2020 |
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 | 165 | 2015 |
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 | 103 | 2015 |
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 | 72 | 2019 |
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 | 68 | 2019 |
Population genomics of stone age Eurasia ME Allentoft, M Sikora, A Refoyo-Martínez, EK Irving-Pease, A Fischer, ... BioRxiv, 2022.05. 04.490594, 2022 | 56 | 2022 |
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 | 54 | 2024 |
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 | 48 | 2022 |
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 | 48 | 2022 |
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 | 47 | 2023 |
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 | 40 | 2015 |
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 | 28 | 2018 |
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 | 27 | 2021 |
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 | 24 | 2016 |