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Items: 1 to 50 of 158

1.

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group.

Nat Commun. 2018 Aug 23;9(1):3493. doi: 10.1038/s41467-018-05975-y.

2.

Molecular Diversity and Specializations among the Cells of the Adult Mouse Brain.

Saunders A, Macosko EZ, Wysoker A, Goldman M, Krienen FM, de Rivera H, Bien E, Baum M, Bortolin L, Wang S, Goeva A, Nemesh J, Kamitaki N, Brumbaugh S, Kulp D, McCarroll SA.

Cell. 2018 Aug 9;174(4):1015-1030.e16. doi: 10.1016/j.cell.2018.07.028.

PMID:
30096299
3.

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

Loh PR, Genovese G, Handsaker RE, Finucane HK, Reshef YA, Palamara PF, Birmann BM, Talkowski ME, Bakhoum SF, McCarroll SA, Price AL.

Nature. 2018 Jul;559(7714):350-355. doi: 10.1038/s41586-018-0321-x. Epub 2018 Jul 11.

PMID:
29995854
4.

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group.

Nat Commun. 2018 Jul 4;9(1):2606. doi: 10.1038/s41467-018-04668-w. Erratum in: Nat Commun. 2018 Aug 23;9(1):3493.

5.

A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.

Estrada K, Whelan CW, Zhao F, Bronson P, Handsaker RE, Sun C, Carulli JP, Harris T, Ransohoff RM, McCarroll SA, Day-Williams AG, Greenberg BM, MacArthur DG.

Nat Commun. 2018 May 16;9(1):1929. doi: 10.1038/s41467-018-04332-3.

6.

Using Droplet Digital PCR to Analyze Allele-Specific RNA Expression.

Kamitaki N, Usher CL, McCarroll SA.

Methods Mol Biol. 2018;1768:401-422. doi: 10.1007/978-1-4939-7778-9_23.

PMID:
29717456
7.

Analyzing Copy Number Variation with Droplet Digital PCR.

Bell AD, Usher CL, McCarroll SA.

Methods Mol Biol. 2018;1768:143-160. doi: 10.1007/978-1-4939-7778-9_9.

PMID:
29717442
8.

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ.

Nat Genet. 2018 May;50(5):727-736. doi: 10.1038/s41588-018-0107-y. Epub 2018 Apr 26.

PMID:
29700473
9.

Polygenic risk for schizophrenia and measured domains of cognition in individuals with psychosis and controls.

Shafee R, Nanda P, Padmanabhan JL, Tandon N, Alliey-Rodriguez N, Kalapurakkel S, Weiner DJ, Gur RE, Keefe RSE, Hill SK, Bishop JR, Clementz BA, Tamminga CA, Gershon ES, Pearlson GD, Keshavan MS, Sweeney JA, McCarroll SA, Robinson EB.

Transl Psychiatry. 2018 Apr 12;8(1):78. doi: 10.1038/s41398-018-0124-8.

10.

Increased neutrophil extracellular trap formation promotes thrombosis in myeloproliferative neoplasms.

Wolach O, Sellar RS, Martinod K, Cherpokova D, McConkey M, Chappell RJ, Silver AJ, Adams D, Castellano CA, Schneider RK, Padera RF, DeAngelo DJ, Wadleigh M, Steensma DP, Galinsky I, Stone RM, Genovese G, McCarroll SA, Iliadou B, Hultman C, Neuberg D, Mullally A, Wagner DD, Ebert BL.

Sci Transl Med. 2018 Apr 11;10(436). pii: eaan8292. doi: 10.1126/scitranslmed.aan8292.

PMID:
29643232
11.

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights.

Gusev A, Mancuso N, Won H, Kousi M, Finucane HK, Reshef Y, Song L, Safi A; Schizophrenia Working Group of the Psychiatric Genomics Consortium, McCarroll S, Neale BM, Ophoff RA, O'Donovan MC, Crawford GE, Geschwind DH, Katsanis N, Sullivan PF, Pasaniuc B, Price AL.

Nat Genet. 2018 Apr;50(4):538-548. doi: 10.1038/s41588-018-0092-1. Epub 2018 Apr 9.

PMID:
29632383
12.

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.

Finucane HK, Reshef YA, Anttila V, Slowikowski K, Gusev A, Byrnes A, Gazal S, Loh PR, Lareau C, Shoresh N, Genovese G, Saunders A, Macosko E, Pollack S; Brainstorm Consortium, Perry JRB, Buenrostro JD, Bernstein BE, Raychaudhuri S, McCarroll S, Neale BM, Price AL.

Nat Genet. 2018 Apr;50(4):621-629. doi: 10.1038/s41588-018-0081-4. Epub 2018 Apr 9.

PMID:
29632380
13.

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

Raffield LM, Ulirsch JC, Naik RP, Lessard S, Handsaker RE, Jain D, Kang HM, Pankratz N, Auer PL, Bao EL, Smith JD, Lange LA, Lange EM, Li Y, Thornton TA, Young BA, Abecasis GR, Laurie CC, Nickerson DA, McCarroll SA, Correa A, Wilson JG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology & Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups, Lettre G, Sankaran VG, Reiner AP.

PLoS Genet. 2018 Mar 28;14(3):e1007293. doi: 10.1371/journal.pgen.1007293. eCollection 2018 Mar.

14.

Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, Gur RE, Handsaker RE, McCarroll SA, Ophoff RA, Palotie A, Pato CN, Sabatti C, State MW, Willsey AJ, Hyman SE, Addington AM, Lehner T, Freimer NB; Whole Genome Sequencing for Psychiatric Disorders (WGSPD).

Nat Neurosci. 2018 Jul;21(7):1017. doi: 10.1038/s41593-018-0102-8.

PMID:
29549319
15.

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; GERAD1 Consortium; CRESTAR Consortium; GERAD1 Consortium; CRESTAR Consortium.

Nat Genet. 2018 Mar;50(3):381-389. doi: 10.1038/s41588-018-0059-2. Epub 2018 Feb 26.

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 JTR.

Mol Psychiatry. 2018 Jan;23(1):162-163. doi: 10.1038/mp.2017.214. Epub 2017 Oct 24.

17.

Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S; Whole Genome Sequencing for Psychiatric Disorders (WGSPD), Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, Gur RE, Handsaker RE, McCarroll SA, Ophoff RA, Palotie A, Pato CN, Sabatti C, State MW, Willsey AJ, Hyman SE, Addington AM, Lehner T, Freimer NB.

Nat Neurosci. 2017 Dec;20(12):1661-1668. doi: 10.1038/s41593-017-0017-9. No abstract available. Erratum in: Nat Neurosci. 2018 Mar 16;:.

PMID:
29184211
18.

Adaptive combination of Bayes factors as a powerful method for the joint analysis of rare and common variants.

Lin WY, Chen WJ, Liu CM, Hwu HG, McCarroll SA, Glatt SJ, Tsuang MT.

Sci Rep. 2017 Oct 24;7(1):13858. doi: 10.1038/s41598-017-13177-7.

19.

Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study.

Lencer R, Mills LJ, Alliey-Rodriguez N, Shafee R, Lee AM, Reilly JL, Sprenger A, McDowell JE, McCarroll SA, Keshavan MS, Pearlson GD, Tamminga CA, Clementz BA, Gershon ES, Sweeney JA, Bishop JR.

Transl Psychiatry. 2017 Oct 24;7(10):e1249. doi: 10.1038/tp.2017.210.

20.

A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes.

Mercader JM, Liao RG, Bell AD, Dymek Z, Estrada K, Tukiainen T, Huerta-Chagoya A, Moreno-Macías H, Jablonski KA, Hanson RL, Walford GA, Moran I, Chen L, Agarwala V, Ordoñez-Sánchez ML, Rodríguez-Guillen R, Rodríguez-Torres M, Segura-Kato Y, García-Ortiz H, Centeno-Cruz F, Barajas-Olmos F, Caulkins L, Puppala S, Fontanillas P, Williams AL, Bonàs-Guarch S, Hartl C, Ripke S; Diabetes Prevention Program Research Group, Tooley K, Lane J, Zerrweck C, Martínez-Hernández A, Córdova EJ, Mendoza-Caamal E, Contreras-Cubas C, González-Villalpando ME, Cruz-Bautista I, Muñoz-Hernández L, Gómez-Velasco D, Alvirde U, Henderson BE, Wilkens LR, Le Marchand L, Arellano-Campos O, Riba L, Harden M; Broad Genomics Platform, Gabriel S; T2D-GENES Consortium, Abboud HE, Cortes ML, Revilla-Monsalve C, Islas-Andrade S, Soberon X, Curran JE, Jenkinson CP, DeFronzo RA, Lehman DM, Hanis CL, Bell GI, Boehnke M, Blangero J, Duggirala R, Saxena R, MacArthur D, Ferrer J, McCarroll SA, Torrents D, Knowler WC, Baier LJ, Burtt N, González-Villalpando C, Haiman CA, Aguilar-Salinas CA, Tusié-Luna T, Flannick J, Jacobs SBR, Orozco L, Altshuler D, Florez JC; SIGMA T2D Genetics Consortium.

Diabetes. 2017 Nov;66(11):2903-2914. doi: 10.2337/db17-0187. Epub 2017 Aug 24.

21.

Polygenic risk for schizophrenia and neurocognitive performance in patients with schizophrenia.

Wang SH, Hsiao PC, Yeh LL, Liu CM, Liu CC, Hwang TJ, Hsieh MH, Chien YL, Lin YT, Chandler SD, Faraone SV, Laird N, Neale B, McCarroll SA, Glatt SJ, Tsuang MT, Hwu HG, Chen WJ.

Genes Brain Behav. 2018 Jan;17(1):49-55. doi: 10.1111/gbb.12401. Epub 2017 Aug 8. Erratum in: Genes Brain Behav. 2018 Jan;17 (1):93.

PMID:
28719030
22.

Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia.

Leonenko G, Richards AL, Walters JT, Pocklington A, Chambert K, Al Eissa MM, Sharp SI, O'Brien NL, Curtis D, Bass NJ, McQuillin A, Hultman C, Moran JL, McCarroll SA, Sklar P, Neale BM, Holmans PA, Owen MJ, Sullivan PF, O'Donovan MC.

Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):724-731. doi: 10.1002/ajmg.b.32560. Epub 2017 Jul 18.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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.

28.

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

Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA Jr, Bergen SE, Bertalan M, Bevilacqua E, Bigdeli TB, Black DW, Bruggeman R, Buccola NG, Buckner RL, Bulik-Sullivan B, Byerley W, Cahn W, Cai G, Cairns MJ, Campion D, Cantor RM, Carr VJ, Carrera N, Catts SV, Chambert KD, Cheng W, Cloninger CR, Cohen D, Cormican P, Craddock N, Crespo-Facorro B, Crowley JJ, Curtis D, Davidson M, Davis KL, Degenhardt F, Del Favero J, DeLisi LE, Dikeos D, Dinan T, Djurovic S, Donohoe G, Drapeau E, Duan J, Dudbridge F, Eichhammer P, Eriksson J, Escott-Price V, Essioux L, Fanous AH, Farh KH, Farrell MS, Frank J, Franke L, Freedman R, Freimer NB, Friedman JI, Forstner AJ, Fromer M, Genovese G, Georgieva L, Gershon ES, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, Gratten J, de Haan L, Hamshere ML, Hansen M, Hansen T, Haroutunian V, Hartmann AM, Henskens FA, Herms S, Hirschhorn JN, Hoffmann P, Hofman A, Huang H, Ikeda M, Joa I, Kähler AK, Kahn RS, Kalaydjieva L, Karjalainen J, Kavanagh D, Keller MC, Kelly BJ, Kennedy JL, Kim Y, Knowles JA, Konte B, Laurent C, Lee P, Lee SH, Legge SE, Lerer B, Levy DL, Liang KY, Lieberman J, Lönnqvist J, Loughland CM, Magnusson PKE, Maher BS, Maier W, Mallet J, Mattheisen M, Mattingsdal M, McCarley RW, McDonald C, McIntosh AM, Meier S, Meijer CJ, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mokrab Y, Morris DW, Müller-Myhsok B, Murphy KC, Murray RM, Myin-Germeys I, Nenadic I, Nertney DA, Nestadt G, Nicodemus KK, Nisenbaum L, Nordin A, O'Callaghan E, O'Dushlaine C, Oh SY, Olincy A, Olsen L, O'Neill FA, Van Os J, Pantelis C, Papadimitriou GN, Parkhomenko E, Pato MT, Paunio T; Psychosis Endophenotypes International Consortium, Perkins DO, Pers TH, Pietiläinen O, Pimm J, Pocklington AJ, Powell J, Price A, Pulver AE, Purcell SM, Quested D, Rasmussen HB, Reichenberg A, Reimers MA, Richards AL, Roffman JL, Roussos P, Ruderfer DM, Salomaa V, Sanders AR, Savitz A, Schall U, Schulze TG, Schwab SG, Scolnick EM, Scott RJ, Seidman LJ, Shi J, Silverman JM, Smoller JW, Söderman E, Spencer CCA, Stahl EA, Strengman E, Strohmaier J, Stroup TS, Suvisaari J, Svrakic DM, Szatkiewicz JP, Thirumalai S, Tooney PA, Veijola J, Visscher PM, Waddington J, Walsh D, Webb BT, Weiser M, Wildenauer DB, Williams NM, Williams S, Witt SH, Wolen AR, Wormley BK, Wray NR, Wu JQ, Zai CC, Adolfsson R, Andreassen OA, Blackwood DHR, Bramon E, Buxbaum JD, Cichon S, Collier DA, Corvin A, Daly MJ, Darvasi A, Domenici E, Esko T, Gejman PV, Gill M, Gurling H, Hultman CM, Iwata N, Jablensky AV, Jönsson EG, Kendler KS, Kirov G, Knight J, Levinson DF, Li QS, McCarroll SA, McQuillin A, Moran JL, Mowry BJ, Nöthen MM, Ophoff RA, Owen MJ, Palotie A, Pato CN, Petryshen TL, Posthuma D, Rietschel M, Riley BP, Rujescu D, Sklar P, St Clair D, Walters JTR, Werge T, Sullivan PF, O'Donovan MC, Scherer SW, Neale BM, Sebat J; CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium.

Nat Genet. 2017 Jan;49(1):27-35. doi: 10.1038/ng.3725. Epub 2016 Nov 21. Erratum in: Nat Genet. 2017 Sep 27;49(10 ):1558. Nat Genet. 2017 Mar 30;49(4):651.

29.

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

Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, 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 C, Neale BM.

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

30.

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.

31.

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C.

Am J Med Genet A. 2017 Feb;173(2):395-406. doi: 10.1002/ajmg.a.38021. Epub 2016 Oct 19.

32.

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.

33.

A reference panel of 64,976 haplotypes for genotype imputation.

McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, Vrieze S, Scott LJ, Zhang H, Mahajan A, Veldink J, Peters U, Pato C, van Duijn CM, Gillies CE, Gandin I, Mezzavilla M, Gilly A, Cocca M, Traglia M, Angius A, Barrett JC, Boomsma D, Branham K, Breen G, Brummett CM, Busonero F, Campbell H, Chan A, Chen S, Chew E, Collins FS, Corbin LJ, Smith GD, Dedoussis G, Dorr M, Farmaki AE, Ferrucci L, Forer L, Fraser RM, Gabriel S, Levy S, Groop L, Harrison T, Hattersley A, Holmen OL, Hveem K, Kretzler M, Lee JC, McGue M, Meitinger T, Melzer D, Min JL, Mohlke KL, Vincent JB, Nauck M, Nickerson D, Palotie A, Pato M, Pirastu N, McInnis M, Richards JB, Sala C, Salomaa V, Schlessinger D, Schoenherr S, Slagboom PE, Small K, Spector T, Stambolian D, Tuke M, Tuomilehto J, Van den Berg LH, Van Rheenen W, Volker U, Wijmenga C, Toniolo D, Zeggini E, Gasparini P, Sampson MG, Wilson JF, Frayling T, de Bakker PI, Swertz MA, McCarroll S, Kooperberg C, Dekker A, Altshuler D, Willer C, Iacono W, Ripatti S, Soranzo N, Walter K, Swaroop A, Cucca F, Anderson CA, Myers RM, Boehnke M, McCarthy MI, Durbin R; Haplotype Reference Consortium.

Nat Genet. 2016 Oct;48(10):1279-83. doi: 10.1038/ng.3643. Epub 2016 Aug 22.

34.

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium.

Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.

35.

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

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Mol Psychiatry. 2017 Oct;22(10):1509. doi: 10.1038/mp.2016.137. Epub 2016 Aug 9.

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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.

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Mol Psychiatry. 2017 Oct;22(10):1502-1508. doi: 10.1038/mp.2016.97. Epub 2016 Jul 12. Erratum in: Mol Psychiatry. 2017 Oct;22(10 ):1509. Mol Psychiatry. 2018 Jan;23 (1):162-163.

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

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J Psychiatr Res. 2016 Jun;77:52-8. doi: 10.1016/j.jpsychires.2016.02.015. Epub 2016 Feb 23.

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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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Nature. 2016 Feb 11;530(7589):177-83. doi: 10.1038/nature16549. Epub 2016 Jan 27.

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Quantifying prion disease penetrance using large population control cohorts.

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Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169.

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Hum Mol Genet. 2016 Mar 1;25(5):1001-7. doi: 10.1093/hmg/ddv620. Epub 2016 Jan 5.

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Mol Psychiatry. 2016 Aug;21(8):1153. doi: 10.1038/mp.2015.170. Epub 2015 Dec 8. No abstract available.

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Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder.

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An integrated map of structural variation in 2,504 human genomes.

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Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.

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Mol Psychiatry. 2016 Aug;21(8):1085-9. doi: 10.1038/mp.2015.143. Epub 2015 Sep 22. Erratum in: Mol Psychiatry. 2016 Aug;21(8):1153.

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