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Leveraging base-pair mammalian constraint to understand genetic variation and human disease.
Sullivan PF, Meadows JRS, Gazal S, Phan BN, Li X, Genereux DP, Dong MX, Bianchi M, Andrews G, Sakthikumar S, Nordin J, Roy A, Christmas MJ, Marinescu VD, Wang C, Wallerman O, Xue J, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins LM, Lawler A, Keough KC, Zheng Z, Zeng J, Wray NR, Li Y, Johnson J, Chen J; Zoonomia Consortium§; Paten B, Reilly SK, Hughes GM, Weng Z, Pollard KS, Pfenning AR, Forsberg-Nilsson K, Karlsson EK, Lindblad-Toh K. Sullivan PF, et al. Science. 2023 Apr 28;380(6643):eabn2937. doi: 10.1126/science.abn2937. Epub 2023 Apr 28. Science. 2023. PMID: 37104612 Free PMC article.
HUGIn: Hi-C Unifying Genomic Interrogator.
Martin JS, Xu Z, Reiner AP, Mohlke KL, Sullivan P, Ren B, Hu M, Li Y. Martin JS, et al. Bioinformatics. 2017 Dec 1;33(23):3793-3795. doi: 10.1093/bioinformatics/btx359. Bioinformatics. 2017. PMID: 28582503 Free PMC article.
Genome-wide gene-environment interaction in depression: A systematic evaluation of candidate genes: The childhood trauma working-group of PGC-MDD.
Van der Auwera S, Peyrot WJ, Milaneschi Y, Hertel J, Baune B, Breen G, Byrne E, Dunn EC, Fisher H, Homuth G, Levinson D, Lewis C, Mills N, Mullins N, Nauck M, Pistis G, Preisig M, Rietschel M, Ripke S, Sullivan P, Teumer A, Völzke H; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Boomsma DI, Wray NR, Penninx B, Grabe H. Van der Auwera S, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):40-49. doi: 10.1002/ajmg.b.32593. Epub 2017 Nov 21. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29159863 Free PMC article.
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe JH, McCarroll SA, Baune BT, Breen G, Byrne EM, Dannlowski U, Eley TC, Hayward C, Martin NG, McIntosh AM, Plomin R, Porteous DJ, Wray NR, Caballero A, Geschwind DH, Huckins LM, Ruderfer DM, Santiago E, Sklar P, Stahl EA, Won H, Agerbo E, Als TD, Andreassen OA, Bækvad-Hansen M, Mortensen PB, Pedersen CB, Børglum AD, Bybjerg-Grauholm J, Djurovic S, Durmishi N, Pedersen MG, Golimbet V, Grove J, Hougaard DM, Mattheisen M, Molden E, Mors O, Nordentoft M, Pejovic-Milovancevic M, Sigurdsson E, Silagadze T, Hansen CS, Stefansson K, Stefansson H, Steinberg S, Tosato S, Werge T; GERAD1 Consortium; CRESTAR Consortium; Collier DA, Rujescu D, Kirov G, Owen MJ, O'Donovan MC, Walters JTR. Pardiñas AF, et al. Nat Genet. 2018 Mar;50(3):381-389. doi: 10.1038/s41588-018-0059-2. Epub 2018 Feb 26. Nat Genet. 2018. PMID: 29483656 Free PMC article.
Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia.
Wen J, Trost B, Engchuan W, Halvorsen M, Pallotto LM, Mitina A, Ancalade N, Farrell M, Backstrom I, Guo K, Pellecchia G, Thiruvahindrapuram B, Giusti-Rodriguez P, Rosen JD, Li Y, Won H, Magnusson PKE, Gyllensten U, Bassett AS, Hultman CM, Sullivan PF, Yuen RKC, Szatkiewicz JP. Wen J, et al. Among authors: sullivan pf. Mol Psychiatry. 2023 Jan;28(1):475-482. doi: 10.1038/s41380-022-01857-4. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36380236 Free PMC article.
Genetic differences between five European populations.
Moskvina V, Smith M, Ivanov D, Blackwood D, StClair D, Hultman C, Toncheva D, Gill M, Corvin A, O'Dushlaine C, Morris DW, Wray NR, Sullivan P, Pato C, Pato MT, Sklar P, Purcell S, Holmans P, O'Donovan MC, Owen MJ, Kirov G; International Schizophrenia Consortium. Moskvina V, et al. Hum Hered. 2010;70(2):141-9. doi: 10.1159/000313854. Epub 2010 Jul 8. Hum Hered. 2010. PMID: 20616560 Free PMC article.
Genomes of the Mouse Collaborative Cross.
Srivastava A, Morgan AP, Najarian ML, Sarsani VK, Sigmon JS, Shorter JR, Kashfeen A, McMullan RC, Williams LH, Giusti-Rodríguez P, Ferris MT, Sullivan P, Hock P, Miller DR, Bell TA, McMillan L, Churchill GA, de Villena FP. Srivastava A, et al. Genetics. 2017 Jun;206(2):537-556. doi: 10.1534/genetics.116.198838. Genetics. 2017. PMID: 28592495 Free PMC article.
655 results