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Items: 1 to 20 of 52

1.

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O'Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS.

Am J Hum Genet. 2019 Jan 3;104(1):187-190. doi: 10.1016/j.ajhg.2018.11.012. No abstract available.

2.

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.

Ganna A, Satterstrom FK, Zekavat SM, Das I, Kurki MI, Churchhouse C, Alfoldi J, Martin AR, Havulinna AS, Byrnes A, Thompson WK, Nielsen PR, Karczewski KJ, Saarentaus E, Rivas MA, Gupta N, Pietiläinen O, Emdin CA, Lescai F, Bybjerg-Grauholm J, Flannick J; GoT2D/T2D-GENES Consortium, Mercader JM, Udler M; SIGMA Consortium Helmsley IBD Exome Sequencing Project; FinMetSeq Consortium; iPSYCH-Broad Consortium, Laakso M, Salomaa V, Hultman C, Ripatti S, Hämäläinen E, Moilanen JS, Körkkö J, Kuismin O, Nordentoft M, Hougaard DM, Mors O, Werge T, Mortensen PB, MacArthur D, Daly MJ, Sullivan PF, Locke AE, Palotie A, Børglum AD, Kathiresan S, Neale BM.

Am J Hum Genet. 2018 Jun 7;102(6):1204-1211. doi: 10.1016/j.ajhg.2018.05.002. Epub 2018 May 31.

3.

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.

Zhang S, Samocha KE, Rivas MA, Karczewski KJ, Daly E, Schmandt B, Neale BM, MacArthur DG, Daly MJ.

Genome Res. 2018 Jul;28(7):968-974. doi: 10.1101/gr.231902.117. Epub 2018 Jun 1.

4.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.

PLoS Genet. 2018 May 24;14(5):e1007329. doi: 10.1371/journal.pgen.1007329. eCollection 2018 May.

5.

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.

Martin AR, Karczewski KJ, Kerminen S, Kurki MI, Sarin AP, Artomov M, Eriksson JG, Esko T, Genovese G, Havulinna AS, Kaprio J, Konradi A, Korányi L, Kostareva A, Männikkö M, Metspalu A, Perola M, Prasad RB, Raitakari O, Rotar O, Salomaa V, Groop L, Palotie A, Neale BM, Ripatti S, Pirinen M, Daly MJ.

Am J Hum Genet. 2018 May 3;102(5):760-775. doi: 10.1016/j.ajhg.2018.03.003. Epub 2018 Apr 26.

6.

Corrigendum: Landscape of X chromosome inactivation across human tissues.

Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A, Consortium G, Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG.

Nature. 2018 Mar 7;555(7695):274. doi: 10.1038/nature25993.

PMID:
29517003
7.

Integrative omics for health and disease.

Karczewski KJ, Snyder MP.

Nat Rev Genet. 2018 May;19(5):299-310. doi: 10.1038/nrg.2018.4. Epub 2018 Feb 26. Review.

8.

Landscape of X chromosome inactivation across human tissues.

Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG.

Nature. 2017 Oct 11;550(7675):244-248. doi: 10.1038/nature24265. Erratum in: Nature. 2018 Mar 7;555(7695):274.

9.

Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.

Balasubramanian S, Fu Y, Pawashe M, McGillivray P, Jin M, Liu J, Karczewski KJ, MacArthur DG, Gerstein M.

Nat Commun. 2017 Aug 29;8(1):382. doi: 10.1038/s41467-017-00443-5.

10.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

11.

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A, Khetarpal SA, Won HH, Karczewski KJ, O'Donnell-Luria AH, Samocha KE, Weisburd B, Gupta N, Zaidi M, Samuel M, Imran A, Abbas S, Majeed F, Ishaq M, Akhtar S, Trindade K, Mucksavage M, Qamar N, Zaman KS, Yaqoob Z, Saghir T, Rizvi SNH, Memon A, Hayyat Mallick N, Ishaq M, Rasheed SZ, Memon FU, Mahmood K, Ahmed N, Do R, Krauss RM, MacArthur DG, Gabriel S, Lander ES, Daly MJ, Frossard P, Danesh J, Rader DJ, Kathiresan S.

Nature. 2017 Apr 12;544(7649):235-239. doi: 10.1038/nature22034.

12.

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, Karczewski KJ, Cutler DJ, Devlin B, Roeder K, Buxbaum JD, Neale BM, MacArthur DG, Wall DP, Robinson EB, Daly MJ.

Nat Genet. 2017 Apr;49(4):504-510. doi: 10.1038/ng.3789. Epub 2017 Feb 13.

13.

Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing.

Boland MR, Karczewski KJ, Tatonetti NP.

PLoS Comput Biol. 2017 Jan 19;13(1):e1005278. doi: 10.1371/journal.pcbi.1005278. eCollection 2017 Jan. No abstract available.

14.

The ExAC browser: displaying reference data information from over 60 000 exomes.

Karczewski KJ, Weisburd B, Thomas B, Solomonson M, Ruderfer DM, Kavanagh D, Hamamsy T, Lek M, Samocha KE, Cummings BB, Birnbaum D; The Exome Aggregation Consortium, Daly MJ, MacArthur DG.

Nucleic Acids Res. 2017 Jan 4;45(D1):D840-D845. doi: 10.1093/nar/gkw971. Epub 2016 Nov 28.

15.

METHODS TO ENSURE THE REPRODUCIBILITY OF BIOMEDICAL RESEARCH.

Karczewski KJ, Tatonetti NP, Manrai AK, Patel CJ, Titus Brown C, Ioannidis JPA.

Pac Symp Biocomput. 2017;22:117-119. doi: 10.1142/9789813207813_0012.

16.

Small RNA Sequencing in Cells and Exosomes Identifies eQTLs and 14q32 as a Region of Active Export.

Tsang EK, Abell NS, Li X, Anaya V, Karczewski KJ, Knowles DA, Sierra RG, Smith KS, Montgomery SB.

G3 (Bethesda). 2017 Jan 5;7(1):31-39. doi: 10.1534/g3.116.036137.

17.

Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans.

Daneshjou R, Cavallari LH, Weeke PE, Karczewski KJ, Drozda K, Perera MA, Johnson JA, Klein TE, Bustamante CD, Roden DM, Shaffer C, Denny JC, Zehnder JL, Altman RB.

Mol Genet Genomic Med. 2016 Jun 21;4(5):513-20. doi: 10.1002/mgg3.226. eCollection 2016 Sep.

18.

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.

19.

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.

Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D, Samocha KE; Exome Aggregation Consortium, Daly MJ, MacArthur DG, Fromer M, Purcell SM.

Nat Genet. 2016 Oct;48(10):1107-11. doi: 10.1038/ng.3638. Epub 2016 Aug 17.

20.

Health and population effects of rare gene knockouts in adult humans with related parents.

Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MR, Barnett AH, Bates C, Bellary S, Bockett NA, Giorda K, Griffiths CJ, Hemingway H, Jia Z, Kelly MA, Khawaja HA, Lek M, McCarthy S, McEachan R, O'Donnell-Luria A, Paigen K, Parisinos CA, Sheridan E, Southgate L, Tee L, Thomas M, Xue Y, Schnall-Levin M, Petkov PM, Tyler-Smith C, Maher ER, Trembath RC, MacArthur DG, Wright J, Durbin R, van Heel DA.

Science. 2016 Apr 22;352(6284):474-7. doi: 10.1126/science.aac8624. Epub 2016 Mar 3.

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