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Items: 1 to 20 of 161

1.

Negative selection in humans and fruit flies involves synergistic epistasis.

Sohail M, Vakhrusheva OA, Sul JH, Pulit SL, Francioli LC; Genome of the Netherlands Consortium.; Alzheimer’s Disease Neuroimaging Initiative., van den Berg LH, Veldink JH, de Bakker PIW, Bazykin GA, Kondrashov AS, Sunyaev SR.

Science. 2017 May 5;356(6337):539-542. doi: 10.1126/science.aah5238.

PMID:
28473589
2.

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations.

Merkle FT, Ghosh S, Kamitaki N, Mitchell J, Avior Y, Mello C, Kashin S, Mekhoubad S, Ilic D, Charlton M, Saphier G, Handsaker RE, Genovese G, Bar S, Benvenisty N, McCarroll SA, Eggan K.

Nature. 2017 May 11;545(7653):229-233. doi: 10.1038/nature22312. Epub 2017 Apr 26.

PMID:
28445466
3.

Cell diversity and network dynamics in photosensitive human brain organoids.

Quadrato G, Nguyen T, Macosko EZ, Sherwood JL, Min Yang S, Berger DR, Maria N, Scholvin J, Goldman M, Kinney JP, Boyden ES, Lichtman JW, Williams ZM, McCarroll SA, Arlotta P.

Nature. 2017 May 4;545(7652):48-53. doi: 10.1038/nature22047. Epub 2017 Apr 26.

PMID:
28445462
4.

Genetically Distinct Parallel Pathways in the Entopeduncular Nucleus for Limbic and Sensorimotor Output of the Basal Ganglia.

Wallace ML, Saunders A, Huang KW, Philson AC, Goldman M, Macosko EZ, McCarroll SA, Sabatini BL.

Neuron. 2017 Apr 5;94(1):138-152.e5. doi: 10.1016/j.neuron.2017.03.017.

PMID:
28384468
5.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.

McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH; Project MinE GWAS Consortium.; Schizophrenia Working Group of the Psychiatric Genomics Consortium..

Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774.

6.

A molecular census of arcuate hypothalamus and median eminence cell types.

Campbell JN, Macosko EZ, Fenselau H, Pers TH, Lyubetskaya A, Tenen D, Goldman M, Verstegen AM, Resch JM, McCarroll SA, Rosen ED, Lowell BB, Tsai LT.

Nat Neurosci. 2017 Mar;20(3):484-496. doi: 10.1038/nn.4495. Epub 2017 Feb 6.

PMID:
28166221
7.

Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder.

Charney AW, Ruderfer DM, Stahl EA, Moran JL, Chambert K, Belliveau RA, Forty L, Gordon-Smith K, Di Florio A, Lee PH, Bromet EJ, Buckley PF, Escamilla MA, Fanous AH, Fochtmann LJ, Lehrer DS, Malaspina D, Marder SR, Morley CP, Nicolini H, Perkins DO, Rakofsky JJ, Rapaport MH, Medeiros H, Sobell JL, Green EK, Backlund L, Bergen SE, Juréus A, Schalling M, Lichtenstein P, Roussos P, Knowles JA, Jones I, Jones LA, Hultman CM, Perlis RH, Purcell SM, McCarroll SA, Pato CN, Pato MT, Craddock N, Landén M, Smoller JW, Sklar P.

Transl Psychiatry. 2017 Jan 10;7(1):e993. doi: 10.1038/tp.2016.242.

PMID:
28072414
8.

A framework for the detection of de novo mutations in family-based sequencing data.

Francioli LC, Cretu-Stancu M, Garimella KV, Fromer M, Kloosterman WP; Genome of the Netherlands consortium., Samocha KE, Neale BM, Daly MJ, Banks E, DePristo MA, de Bakker PI.

Eur J Hum Genet. 2017 Feb;25(2):227-233. doi: 10.1038/ejhg.2016.147. Epub 2016 Nov 23.

9.

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium.; Psychosis Endophenotypes International Consortium..

Nat Genet. 2017 Jan;49(1):27-35. doi: 10.1038/ng.3725. Epub 2016 Nov 21.

PMID:
27869829
10.

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.

Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki MI, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman CM, Neale BM.

Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 3.

11.

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Genovese G, Fromer M, Stahl EA, Ruderfer DM, Chambert K, Landén M, Moran JL, Purcell SM, Sklar P, Sullivan PF, Hultman CM, McCarroll SA.

Nat Neurosci. 2016 Nov;19(11):1433-1441. doi: 10.1038/nn.4402. Epub 2016 Oct 3.

12.

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.

Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, van Dijk F, Hormozdiari F; Genome of the Netherlands Consortium., Uitterlinden AG, van Duijn CM, Eichler EE, de Bakker PI, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Ye K, Guryev V.

Nat Commun. 2016 Oct 6;7:12989. doi: 10.1038/ncomms12989.

13.

Comprehensive Classification of Retinal Bipolar Neurons by Single-Cell Transcriptomics.

Shekhar K, Lapan SW, Whitney IE, Tran NM, Macosko EZ, Kowalczyk M, Adiconis X, Levin JZ, Nemesh J, Goldman M, McCarroll SA, Cepko CL, Regev A, Sanes JR.

Cell. 2016 Aug 25;166(5):1308-1323.e30. doi: 10.1016/j.cell.2016.07.054.

PMID:
27565351
14.

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.

Legge SE, Hamshere ML, Ripke S, Pardinas AF, Goldstein JI, Rees E, Richards AL, Leonenko G, Jorskog LF; Clozapine-Induced Agranulocytosis Consortium., Chambert KD, Collier DA, Genovese G, Giegling I, Holmans P, Jonasdottir A, Kirov G, McCarroll SA, MacCabe JH, Mantripragada K, Moran JL, Neale BM, Stefansson H, Rujescu D, Daly MJ, Sullivan PF, Owen MJ, O'Donovan MC, Walters JT.

Mol Psychiatry. 2016 Aug 9. doi: 10.1038/mp.2016.137. [Epub ahead of print] No abstract available.

PMID:
27502474
15.

Functional analysis of rare variants found in schizophrenia implicates a critical role for GIT1-PAK3 signaling in neuroplasticity.

Kim MJ, Biag J, Fass DM, Lewis MC, Zhang Q, Fleishman M, Gangwar SP, Machius M, Fromer M, Purcell SM, McCarroll SA, Rudenko G, Premont RT, Scolnick EM, Haggarty SJ.

Mol Psychiatry. 2017 Mar;22(3):417-429. doi: 10.1038/mp.2016.98. Epub 2016 Jul 26.

PMID:
27457813
16.

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.

Legge SE, Hamshere ML, Ripke S, Pardinas AF, Goldstein JI, Rees E, Richards AL, Leonenko G, Jorskog LF; Clozapine-Induced Agranulocytosis Consortium., Chambert KD, Collier DA, Genovese G, Giegling I, Holmans P, Jonasdottir A, Kirov G, McCarroll SA, MacCabe JH, Mantripragada K, Moran JL, Neale BM, Stefansson H, Rujescu D, Daly MJ, Sullivan PF, Owen MJ, O'Donovan MC, Walters JT.

Mol Psychiatry. 2016 Jul 12. doi: 10.1038/mp.2016.97. [Epub ahead of print]

17.

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.

Poznik GD, Xue Y, Mendez FL, Willems TF, Massaia A, Wilson Sayres MA, Ayub Q, McCarthy SA, Narechania A, Kashin S, Chen Y, Banerjee R, Rodriguez-Flores JL, Cerezo M, Shao H, Gymrek M, Malhotra A, Louzada S, Desalle R, Ritchie GR, Cerveira E, Fitzgerald TW, Garrison E, Marcketta A, Mittelman D, Romanovitch M, Zhang C, Zheng-Bradley X, Abecasis GR, McCarroll SA, Flicek P, Underhill PA, Coin L, Zerbino DR, Yang F, Lee C, Clarke L, Auton A, Erlich Y, Handsaker RE; 1000 Genomes Project Consortium., Bustamante CD, Tyler-Smith C.

Nat Genet. 2016 Jun;48(6):593-9. doi: 10.1038/ng.3559. Epub 2016 Apr 25.

18.

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H; Swedish Schizophrenia Study.; INTERVAL Study.; DDD Study.; UK10 K Consortium., Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC.

Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14.

PMID:
26974950
19.

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.

Li M, Rothwell R, Vermaat M, Wachsmuth M, Schröder R, Laros JF, van Oven M, de Bakker PI, Bovenberg JA, van Duijn CM, van Ommen GJ, Slagboom PE, Swertz MA, Wijmenga C; Genome of Netherlands Consortium., Kayser M, Boomsma DI, Zöllner S, de Knijff P, Stoneking M.

Genome Res. 2016 Apr;26(4):417-26. doi: 10.1101/gr.203216.115. Epub 2016 Feb 25.

20.

Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.

Boettger LM, Salem RM, Handsaker RE, Peloso GM, Kathiresan S, Hirschhorn JN, McCarroll SA.

Nat Genet. 2016 Apr;48(4):359-66. doi: 10.1038/ng.3510. Epub 2016 Feb 22.

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