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Daniel MacArthur, Ph.D.

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Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. U01MH119689 (ROBINSON, ELISE B) Jun 1, 2019 - Mar 31, 2024
    NIH
    Rare genetic disorders in NeuroDev: Insight into the genetic and phenotypic heterogeneity of ID, ASD and ADHD in South African Populations
    Role: Co-Principal Investigator
  2. R01HG009141 (REHM, HEIDI L.) Sep 13, 2017 - Jun 30, 2021
    NIH
    A powerful web-based discovery platform for rare disease genetics
    Role: Principal Investigator
  3. R01EY027421 (ENGLE, ELIZABETH C.) Apr 1, 2017 - Feb 28, 2022
    NIH
    Dissecting ocular congenital cranial dysinnervation disorders through whole genome sequence analysis
    Role: Co-Principal Investigator
  4. UM1HG008900 (REHM, HEIDI L.) Jan 14, 2016 - Nov 30, 2021
    NIH
    Joint Center for Mendelian Genomics
    Role: Principal Investigator
  5. U54DK105566 (MACARTHUR, DANIEL G) Sep 30, 2014 - Aug 31, 2019
    NIH
    Center for Genome Interpretation
    Role: Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Lappalainen T, MacArthur DG. From variant to function in human disease genetics. Science. 2021 09 24; 373(6562):1464-1468. PMID: 34554789.
    Citations:    Fields:    Translation:Humans
  2. Gudmundsson S, Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Neale BM, Daly MJ, MacArthur DG. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Sep; 597(7874):E3-E4. PMID: 34373650.
    Citations:    Fields:    
  3. Beauchamp EM, Leventhal M, Bernard E, Hoppe ER, Todisco G, Creignou M, Gallì A, Castellano CA, McConkey M, Tarun A, Wong W, Schenone M, Stanclift C, Tanenbaum B, Malolepsza E, Nilsson B, Bick AG, Weinstock JS, Miller M, Niroula A, Dunford A, Taylor-Weiner A, Wood T, Barbera A, Anand S, Psaty BM, Desai P, Cho MH, Johnson AD, Loos R, MacArthur DG, Lek M, Neuberg DS, Lage K, Carr SA, Hellstrom-Lindberg E, Malcovati L, Papaemmanuil E, Stewart C, Getz G, Bradley RK, Jaiswal S, Ebert BL. ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing. Blood Cancer Discov. 2021 Sep; 2(5):500-517. PMID: 34568833.
    Citations:    
  4. Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Strom TM, Tai ES, Tam CHT, Teo YY, Thameem F, Tomlinson B, Tracy RP, Tuomi T, Tuomilehto J, Tusié-Luna T, van Dam RM, Vasan RS, Wilson JG, Witte DR, Wong TY, Burtt NP, Zaitlen N, McCarthy MI, Boehnke M, Pollin TI, Flannick J, Mercader JM, O'Donnell-Luria A, Baxter S, Florez JC, MacArthur DG, Udler MS. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 06 09; 12(1):3505. PMID: 34108472.
    Citations:    Fields:    Translation:Humans
  5. Wang QS, Kelley DR, Ulirsch J, Kanai M, Sadhuka S, Cui R, Albors C, Cheng N, Okada Y, Aguet F, Ardlie KG, MacArthur DG, Finucane HK. Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs. Nat Commun. 2021 06 07; 12(1):3394. PMID: 34099641.
    Citations: 2     Fields:    Translation:Humans
  6. Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM, O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021 05; 29(5):816-826. PMID: 33649541.
    Citations:    Fields:    
  7. Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD, Hill AJ, O'Donnell-Luria AH, Karczewski KJ, MacArthur DG. Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2021 Feb 02; 12(1):827. PMID: 33531481.
    Citations:    Fields:    
  8. Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC, Cook SA, Barton PJR, MacArthur DG, Ware JS. Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2021 Feb 02; 12(1):839. PMID: 33531501.
    Citations:    Fields:    
  9. Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alföldi J, Trembath RC, van Heel DA, Daly MJ, Schreiber SL, MacArthur DG. Author Correction: Evaluating drug targets through human loss-of-function genetic variation. Nature. 2021 Feb; 590(7846):E56. PMID: 33536628.
    Citations:    Fields:    
  10. Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Neale BM, Daly MJ, MacArthur DG. Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Feb; 590(7846):E53. PMID: 33536625.
    Citations:    Fields:    
  11. Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Author Correction: A structural variation reference for medical and population genetics. Nature. 2021 Feb; 590(7846):E55. PMID: 33536627.
    Citations:    Fields:    
  12. Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alföldi J, Daly MJ, MacArthur DG. Author Correction: Transcript expression-aware annotation improves rare variant interpretation. Nature. 2021 Feb; 590(7846):E54. PMID: 33536626.
    Citations:    Fields:    
  13. Waddell LB, Bryen SJ, Cummings BB, Bournazos A, Evesson FJ, Joshi H, Marshall JL, Tukiainen T, Valkanas E, Weisburd B, Sadedin S, Davis MR, Faiz F, Gooding R, Sandaradura SA, O'Grady GL, Tchan MC, Mowat DR, Oates EC, Farrar MA, Sampaio H, Ma A, Neas K, Wang MX, Charlton A, Chan C, Kenwright DN, Graf N, Arbuckle S, Clarke NF, MacArthur DG, Jones KJ, Lek M, Cooper ST. WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. Neurol Genet. 2021 Feb; 7(1):e554. PMID: 33977140.
    Citations:    
  14. Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742. PMID: 32891193.
    Citations:    Fields:    Translation:HumansAnimalsCells
  15. Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG, Straub V. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med. 2020 09; 22(9):1478-1488. PMID: 32528171.
    Citations: 8     Fields:    Translation:Humans
  16. Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alföldi J, Daly MJ, MacArthur DG. Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458. PMID: 32461655.
    Citations: 21     Fields:    Translation:HumansCells
  17. Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC, Cook SA, Barton PJR, MacArthur DG, Ware JS. Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2020 05 27; 11(1):2523. PMID: 32461616.
    Citations: 9     Fields:    Translation:HumansCells
  18. Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451. PMID: 32461652.
    Citations: 76     Fields:    Translation:Humans
  19. Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alföldi J, Trembath RC, van Heel DA, Daly MJ, Schreiber SL, MacArthur DG. Evaluating drug targets through human loss-of-function genetic variation. Nature. 2020 05; 581(7809):459-464. PMID: 32461653.
    Citations: 20     Fields:    Translation:Humans
  20. Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Neale BM, Daly MJ, MacArthur DG. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443. PMID: 32461654.
    Citations: 844     Fields:    Translation:Humans
  21. Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD, Hill AJ, O'Donnell-Luria AH, Karczewski KJ, MacArthur DG. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2020 05 27; 11(1):2539. PMID: 32461613.
    Citations: 16     Fields:    Translation:HumansCells
  22. Finer S, Martin HC, Khan A, Hunt KA, MacLaughlin B, Ahmed Z, Ashcroft R, Durham C, MacArthur DG, McCarthy MI, Robson J, Trivedi B, Griffiths C, Wright J, Trembath RC, van Heel DA. Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people. Int J Epidemiol. 2020 02 01; 49(1):20-21i. PMID: 31504546.
    Citations: 6     Fields:    Translation:Humans
  23. Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. A brief history of human disease genetics. Nature. 2020 01; 577(7789):179-189. PMID: 31915397.
    Citations: 66     Fields:    Translation:HumansAnimals
  24. Mohammadi P, Castel SE, Cummings BB, Einson J, Sousa C, Hoffman P, Donkervoort S, Jiang Z, Mohassel P, Foley AR, Wheeler HE, Im HK, Bonnemann CG, MacArthur DG, Lappalainen T. Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science. 2019 10 18; 366(6463):351-356. PMID: 31601707.
    Citations: 24     Fields:    Translation:HumansCells
  25. Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight. 2019 03 21; 4(6). PMID: 30895940.
    Citations: 10     Fields:    Translation:HumansCells
  26. Marks P, Garcia S, Barrio AM, Belhocine K, Bernate J, Bharadwaj R, Bjornson K, Catalanotti C, Delaney J, Fehr A, Fiddes IT, Galvin B, Heaton H, Herschleb J, Hindson C, Holt E, Jabara CB, Jett S, Keivanfar N, Kyriazopoulou-Panagiotopoulou S, Lek M, Lin B, Lowe A, Mahamdallie S, Maheshwari S, Makarewicz T, Marshall J, Meschi F, O'Keefe CJ, Ordonez H, Patel P, Price A, Royall A, Ruark E, Seal S, Schnall-Levin M, Shah P, Stafford D, Williams S, Wu I, Xu AW, Rahman N, MacArthur D, Church DM. Resolving the full spectrum of human genome variation using Linked-Reads. Genome Res. 2019 04; 29(4):635-645. PMID: 30894395.
    Citations: 46     Fields:    Translation:HumansCells
  27. Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. PMID: 30735661.
    Citations: 4     Fields:    
  28. Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812. PMID: 30655598.
    Citations: 51     Fields:    Translation:Humans
  29. 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. Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. Am J Hum Genet. 2019 01 03; 104(1):187-190. PMID: 30609406.
    Citations: 2     Fields:    
  30. Hu Y, Mohassel P, Donkervoort S, Yun P, Bolduc V, Ezzo D, Dastgir J, Marshall JL, Lek M, MacArthur DG, Foley AR, Bönnemann CG. Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation. J Neuromuscul Dis. 2019; 6(4):475-483. PMID: 31498126.
    Citations: 1     Fields:    Translation:HumansCells
  31. Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Reply to 'Selective effects of heterozygous protein-truncating variants'. Nat Genet. 2019 01; 51(1):3-4. PMID: 30478437.
    Citations: 1     Fields:    
  32. Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947. PMID: 30503522.
    Citations: 48     Fields:    Translation:HumansCells
  33. Diogo D, Tian C, Franklin CS, Alanne-Kinnunen M, March M, Spencer CCA, Vangjeli C, Weale ME, Mattsson H, Kilpeläinen E, Sleiman PMA, Reilly DF, McElwee J, Maranville JC, Chatterjee AK, Bhandari A, Nguyen KH, Estrada K, Reeve MP, Hutz J, Bing N, John S, MacArthur DG, Salomaa V, Ripatti S, Hakonarson H, Daly MJ, Palotie A, Hinds DA, Donnelly P, Fox CS, Day-Williams AG, Plenge RM, Runz H. Phenome-wide association studies across large population cohorts support drug target validation. Nat Commun. 2018 10 16; 9(1):4285. PMID: 30327483.
    Citations: 27     Fields:    Translation:Humans
  34. Arachchi H, Wojcik MH, Weisburd B, Jacobsen JOB, Valkanas E, Baxter S, Byrne AB, O'Donnell-Luria AH, Haendel M, Smedley D, MacArthur DG, Philippakis AA, Rehm HL. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 12; 39(12):1827-1834. PMID: 30240502.
    Citations: 7     Fields:    Translation:Humans
  35. Saha M, Reddy HM, Salih M, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018 08 31. PMID: 30169133.
    Citations:    Fields:    
  36. Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018 11 01; 50(11):929-939. PMID: 30345904.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  37. van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanovic R, Stajic N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018 09; 29(9):2348-2361. PMID: 30143558.
    Citations: 38     Fields:    Translation:HumansAnimals
  38. Dashnow H, Lek M, Phipson B, Halman A, Sadedin S, Lonsdale A, Davis M, Lamont P, Clayton JS, Laing NG, MacArthur DG, Oshlack A. STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol. 2018 08 21; 19(1):121. PMID: 30129428.
    Citations: 28     Fields:    Translation:HumansCells
  39. Jamshidi F, Place EM, Mehrotra S, Navarro-Gomez D, Maher M, Branham KE, Valkanas E, Cherry TJ, Lek M, MacArthur D, Pierce EA, Bujakowska KM. Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. Genet Med. 2019 03; 21(3):694-704. PMID: 30072743.
    Citations: 4     Fields:    Translation:HumansCells
  40. Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Lusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018 07 30; 8(1):23. PMID: 30060766.
    Citations: 12     Fields:    Translation:HumansCells
  41. Li H, Bloom JM, Farjoun Y, Fleharty M, Gauthier L, Neale B, MacArthur D. A synthetic-diploid benchmark for accurate variant-calling evaluation. Nat Methods. 2018 08; 15(8):595-597. PMID: 30013044.
    Citations: 33     Fields:    Translation:HumansCells
  42. Hermle T, Schneider R, Schapiro D, Braun DA, van der Ven AT, Warejko JK, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar AJ, Ashraf S, Rao J, Finn LS, Tasic V, Hernandez JD, Bagga A, Jalalah SM, El Desoky S, Kari JA, Laricchia KM, Lek M, Rehm HL, MacArthur DG, Mane S, Lifton RP, Shril S, Hildebrandt F. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018 08; 29(8):2123-2138. PMID: 29959197.
    Citations: 14     Fields:    Translation:HumansAnimalsCellsPHPublic Health
  43. Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Peric S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Lusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V. Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population. J Neurol Neurosurg Psychiatry. 2019 04; 90(4):490-493. PMID: 29921608.
    Citations: 2     Fields:    Translation:Humans
  44. Zhang S, Samocha KE, Rivas MA, Karczewski KJ, Daly E, Schmandt B, Neale BM, MacArthur DG, Daly MJ. Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. Genome Res. 2018 07; 28(7):968-974. PMID: 29858273.
    Citations: 11     Fields:    Translation:HumansCells
  45. Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018 06; 83(6):1105-1124. PMID: 29691892.
    Citations: 21     Fields:    Translation:Humans
  46. 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, Mercader JM, Udler M, 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. Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. Am J Hum Genet. 2018 06 07; 102(6):1204-1211. PMID: 29861106.
    Citations: 32     Fields:    Translation:Humans
  47. 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, 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. Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet. 2018 05; 14(5):e1007329. PMID: 29795570.
    Citations: 20     Fields:    Translation:Humans
  48. Strang-Karlsson S, Johnson K, Töpf A, Xu L, Lek M, MacArthur DG, Casar-Borota O, Williams M, Straub V, Wallgren-Pettersson C. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. Neuromuscul Disord. 2018 07; 28(7):614-618. PMID: 29910097.
    Citations: 4     Fields:    Translation:Humans
  49. 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. A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica. Nat Commun. 2018 05 16; 9(1):1929. PMID: 29769526.
    Citations: 18     Fields:    Translation:Humans
  50. 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. Corrigendum: Landscape of X chromosome inactivation across human tissues. Nature. 2018 03 07; 555(7695):274. PMID: 29517003.
    Citations: 2     Fields:    
  51. Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J. Limb girdle muscular dystrophy due to mutations in POMT2. J Neurol Neurosurg Psychiatry. 2018 05; 89(5):506-512. PMID: 29175898.
    Citations: 7     Fields:    Translation:Humans
  52. Johnson K, Töpf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Peric S, Hahn A, Maddison P, Akay E, Bastian AE, Lusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis. 2017 11 17; 12(1):173. PMID: 29149851.
    Citations: 5     Fields:    Translation:Humans
  53. Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie Helmut Fuchs SM, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Nutter SNLMJ, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, Wurst W, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SDM, Adams DJ, Lloyd KCK, McKerlie C, Beaudet AL, Murray MBSA. Corrigendum: High-throughput discovery of novel developmental phenotypes. Nature. 2017 11 16; 551(7680):398. PMID: 29144450.
    Citations: 1     Fields:    
  54. 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, Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG. Landscape of X chromosome inactivation across human tissues. Nature. 2017 10 11; 550(7675):244-248. PMID: 29022598.
    Citations: 211     Fields:    Translation:HumansCells
  55. Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnússon Ó, Lek M, MacArthur D, Bushby K, Lochmüller H, Straub V. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. Orphanet J Rare Dis. 2017 09 06; 12(1):151. PMID: 28877744.
    Citations: 5     Fields:    Translation:Humans
  56. Balasubramanian S, Fu Y, Pawashe M, McGillivray P, Jin M, Liu J, Karczewski KJ, MacArthur DG, Gerstein M. Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. Nat Commun. 2017 08 29; 8(1):382. PMID: 28851873.
    Citations: 15     Fields:    Translation:Humans
  57. 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, 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, Gabriel S, 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. A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes. Diabetes. 2017 11; 66(11):2903-2914. PMID: 28838971.
    Citations: 13     Fields:    Translation:HumansCells
  58. Willems SM, Wright DJ, Day FR, Trajanoska K, Joshi PK, Morris JA, Matteini AM, Garton FC, Grarup N, Oskolkov N, Thalamuthu A, Mangino M, Liu J, Demirkan A, Lek M, Xu L, Wang G, Oldmeadow C, Gaulton KJ, Lotta LA, Miyamoto-Mikami E, Rivas MA, White T, Loh PR, Aadahl M, Amin N, Attia JR, Austin K, Benyamin B, Brage S, Cheng YC, Cieszczyk P, Derave W, Eriksson KF, Eynon N, Linneberg A, Lucia A, Massidda M, Mitchell BD, Miyachi M, Murakami H, Padmanabhan S, Pandey A, Papadimitriou I, Rajpal DK, Sale C, Schnurr TM, Sessa F, Shrine N, Tobin MD, Varley I, Wain LV, Wray NR, Lindgren CM, MacArthur DG, Waterworth DM, McCarthy MI, Pedersen O, Khaw KT, Kiel DP, Pitsiladis Y, Fuku N, Franks PW, North KN, van Duijn CM, Mather KA, Hansen T, Hansson O, Spector T, Murabito JM, Richards JB, Rivadeneira F, Langenberg C, Perry JRB, Wareham NJ, Scott RA. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nat Commun. 2017 07 12; 8:16015. PMID: 29313844.
    Citations: 37     Fields:    Translation:Humans
  59. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME. Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969. PMID: 28546579.
    Citations:    Fields:    
  60. Zhang X, Minikel EV, O'Donnell-Luria AH, MacArthur DG, Ware JS, Weisburd B. ClinVar data parsing. Wellcome Open Res. 2017; 2:33. PMID: 28630944.
    Citations: 8     
  61. Whiffin N, Minikel E, Walsh R, O'Donnell-Luria AH, Karczewski K, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur D, Ware JS. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017 10; 19(10):1151-1158. PMID: 28518168.
    Citations: 100     Fields:    Translation:Humans
  62. Mulroy E, Ghaoui R, Hutchinson D, Rodrigues M, Lek M, MacArthur DG, Cooper ST, Clarke NF, Roxburgh R. A 'limb-girdle muscular dystrophy' responsive to asthma therapy. Pract Neurol. 2017 Aug; 17(4):327-331. PMID: 28433973.
    Citations: 2     Fields:    
  63. 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, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386). PMID: 28424332.
    Citations: 142     Fields:    Translation:HumansCells
  64. 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. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017 04 12; 544(7649):235-239. PMID: 28406212.
    Citations: 102     Fields:    Translation:HumansCells
  65. Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017 May; 49(5):806-810. PMID: 28369035.
    Citations: 30     Fields:    Translation:HumansAnimals
  66. Carlston CM, O'Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP, Tvrdik T, MacArthur DG, Mao R. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. Hum Mutat. 2017 05; 38(5):517-523. PMID: 28229513.
    Citations: 13     Fields:    Translation:Humans
  67. Peric S, Glumac JN, Töpf A, Savic-Pavicevic D, Phillips L, Johnson K, Cassop-Thompson M, Xu L, Bertoli M, Lek M, MacArthur D, Brkušanin M, Milenkovic S, Rašic VM, Banko B, Maksimovic R, Lochmüller H, Stojanovic VR, Straub V. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. Eur J Hum Genet. 2017 05; 25(5):572-581. PMID: 28295036.
    Citations: 7     Fields:    Translation:Humans
  68. 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. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr; 49(4):504-510. PMID: 28191890.
    Citations: 103     Fields:    Translation:Humans
  69. McCarthy MI, MacArthur DG. Human disease genomics: from variants to biology. Genome Biol. 2017 01 30; 18(1):20. PMID: 28137298.
    Citations: 11     Fields:    Translation:Humans
  70. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248. PMID: 28067909.
    Citations: 44     Fields:    Translation:Humans
  71. Karczewski KJ, Weisburd B, Thomas B, Solomonson M, Ruderfer DM, Kavanagh D, Hamamsy T, Lek M, Samocha KE, Cummings BB, Birnbaum D, Daly MJ, MacArthur DG. The ExAC browser: displaying reference data information from over 60 000 exomes. Nucleic Acids Res. 2017 01 04; 45(D1):D840-D845. PMID: 27899611.
    Citations: 177     Fields:    Translation:Humans
  72. Zou J, Valiant G, Valiant P, Karczewski K, Chan SO, Samocha K, Lek M, Sunyaev S, Daly M, MacArthur DG. Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. Nat Commun. 2016 10 31; 7:13293. PMID: 27796292.
    Citations: 13     Fields:    Translation:HumansCells
  73. Minikel EV, MacArthur DG. Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis. Neuron. 2016 Oct 19; 92(2):336-338. PMID: 27764668.
    Citations: 7     Fields:    Translation:Humans
  74. O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet. 2016 Nov 03; 99(5):1086-1105. PMID: 27745833.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  75. Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb; 62(2):243-252. PMID: 27708273.
    Citations: 20     Fields:    Translation:HumansCells
  76. Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M, Murray SA. High-throughput discovery of novel developmental phenotypes. Nature. 2016 09 22; 537(7621):508-514. PMID: 27626380.
    Citations: 318     Fields:    Translation:HumansAnimalsCells
  77. Rivas MA, Graham D, Sulem P, Stevens C, Desch AN, Goyette P, Gudbjartsson D, Jonsdottir I, Thorsteinsdottir U, Degenhardt F, Mucha S, Kurki MI, Li D, D'Amato M, Annese V, Vermeire S, Weersma RK, Halfvarson J, Paavola-Sakki P, Lappalainen M, Lek M, Cummings B, Tukiainen T, Haritunians T, Halme L, Koskinen LL, Ananthakrishnan AN, Luo Y, Heap GA, Visschedijk MC, MacArthur DG, Neale BM, Ahmad T, Anderson CA, Brant SR, Duerr RH, Silverberg MS, Cho JH, Palotie A, Saavalainen P, Kontula K, Färkkilä M, McGovern DP, Franke A, Stefansson K, Rioux JD, Xavier RJ, Daly MJ. Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nat Commun. 2016 09 13; 7:12869. PMID: 27619887.
    Citations: 1     Fields:    
  78. O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology. 2016 Oct 04; 87(14):1442-1448. PMID: 27590285.
    Citations: 14     Fields:    Translation:Humans
  79. Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB. Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. Muscle Nerve. 2016 10; 54(4):690-5. PMID: 26934379.
    Citations: 5     Fields:    Translation:Humans
  80. 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. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91. PMID: 27535533.
    Citations: 3759     Fields:    Translation:Humans
  81. Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, MacArthur DG, Farrall M, Cook SA, Watkins H. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017 02; 19(2):192-203. PMID: 27532257.
    Citations: 214     Fields:    Translation:Humans
  82. Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D, Samocha KE, Daly MJ, MacArthur DG, Fromer M, Purcell SM. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat Genet. 2016 10; 48(10):1107-11. PMID: 27533299.
    Citations: 68     Fields:    Translation:Humans
  83. Rivas MA, Graham D, Sulem P, Stevens C, Desch AN, Goyette P, Gudbjartsson D, Jonsdottir I, Thorsteinsdottir U, Degenhardt F, Mucha S, Kurki MI, Li D, D'Amato M, Annese V, Vermeire S, Weersma RK, Halfvarson J, Paavola-Sakki P, Lappalainen M, Lek M, Cummings B, Tukiainen T, Haritunians T, Halme L, Koskinen LL, Ananthakrishnan AN, Luo Y, Heap GA, Visschedijk MC, MacArthur DG, Neale BM, Ahmad T, Anderson CA, Brant SR, Duerr RH, Silverberg MS, Cho JH, Palotie A, Saavalainen P, Kontula K, Färkkilä M, McGovern DP, Franke A, Stefansson K, Rioux JD, Xavier RJ, Daly MJ, Barrett J, de Lane K, Edwards C, Hart A, Hawkey C, Jostins L, Kennedy N, Lamb C, Lee J, Lees C, Mansfield J, Mathew C, Mowatt C, Newman B, Nimmo E, Parkes M, Pollard M, Prescott N, Randall J, Rice D, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson D, Abraham C, Achkar JP, Bitton A, Boucher G, Croitoru K, Fleshner P, Glas J, Kugathasan S, Limbergen JV, Milgrom R, Proctor D, Regueiro M, Schumm PL, Sharma Y, Stempak JM, Targan SR, Wang MH. A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nat Commun. 2016 08 09; 7:12342. PMID: 27503255.
    Citations: 15     Fields:    Translation:Humans
  84. Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? BMC Med Genet. 2016 Jun 10; 17(1):42. PMID: 27282200.
    Citations: 9     Fields:    Translation:Humans
  85. O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Ann Neurol. 2016 07; 80(1):101-11. PMID: 27159402.
    Citations: 15     Fields:    Translation:Humans
  86. Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST. TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. Neuromuscul Disord. 2016 08; 26(8):500-3. PMID: 27342937.
    Citations: 13     Fields:    Translation:Humans
  87. MacArthur D. Superheroes of disease resistance. Nat Biotechnol. 2016 05; 34(5):512-3. PMID: 27065009.
    Citations: 2     Fields:    Translation:Humans
  88. 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. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016 Apr 22; 352(6284):474-7. PMID: 26940866.
    Citations: 106     Fields:    Translation:Humans
  89. O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF. Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. Eur J Hum Genet. 2016 08; 24(8):1216-9. PMID: 26813943.
    Citations:    Fields:    Translation:Humans
  90. Smoller JW, Karlson EW, Green RC, Kathiresan S, MacArthur DG, Talkowski ME, Murphy SN, Weiss ST. An eMERGE Clinical Center at Partners Personalized Medicine. J Pers Med. 2016 Jan 20; 6(1). PMID: 26805891.
    Citations: 13     
  91. Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM, Daly MJ, MacArthur DG. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9. PMID: 26791950.
    Citations: 106     Fields:    Translation:Humans
  92. Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, Hackman P, Jonson PH, Penttilä S, Vihola A, Huovinen S, Lindfors M, Davis RL, Waddell L, Kaur S, Yiannikas C, North K, Clarke N, MacArthur DG, Sue CM, Udd B. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. 2016 Jan 26; 86(4):391-8. PMID: 26718575.
    Citations: 32     Fields:    Translation:Humans
  93. Hogarth MW, Garton FC, Houweling PJ, Tukiainen T, Lek M, Macarthur DG, Seto JT, Quinlan KG, Yang N, Head SI, North KN. Analysis of the ACTN3 heterozygous genotype suggests that a-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion. Hum Mol Genet. 2016 Mar 01; 25(5):866-77. PMID: 26681802.
    Citations: 8     Fields:    Translation:HumansAnimalsCells
  94. Gonorazky H, Liang M, Cummings B, Lek M, Micallef J, Hawkins C, Basran R, Cohn R, Wilson MD, MacArthur D, Marshall CR, Ray PN, Dowling JJ. RNAseq analysis for the diagnosis of muscular dystrophy. Ann Clin Transl Neurol. 2016 01; 3(1):55-60. PMID: 26783550.
    Citations: 27     Fields:    
  95. Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. JAMA Neurol. 2015 Dec; 72(12):1424-32. PMID: 26436962.
    Citations: 47     Fields:    Translation:Humans
  96. Patterson HC, Gerbeth C, Thiru P, Vögtle NF, Knoll M, Shahsafaei A, Samocha KE, Huang CX, Harden MM, Song R, Chen C, Kao J, Shi J, Salmon W, Shaul YD, Stokes MP, Silva JC, Bell GW, MacArthur DG, Ruland J, Meisinger C, Lodish HF. A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signaling. Proc Natl Acad Sci U S A. 2015 Oct 20; 112(42):E5679-88. PMID: 26438848.
    Citations: 18     Fields:    Translation:AnimalsCells
  97. Li YR, van Setten J, Verma SS, Lu Y, Holmes MV, Gao H, Lek M, Nair N, Chandrupatla H, Chang B, Karczewski KJ, Wong C, Mohebnasab M, Mukhtar E, Phillips R, Tragante V, Hou C, Steel L, Lee T, Garifallou J, Guettouche T, Cao H, Guan W, Himes A, van Houten J, Pasquier A, Yu R, Carrigan E, Miller MB, Schladt D, Akdere A, Gonzalez A, Llyod KM, McGinn D, Gangasani A, Michaud Z, Colasacco A, Snyder J, Thomas K, Wang T, Wu B, Alzahrani AJ, Al-Ali AK, Al-Muhanna FA, Al-Rubaish AM, Al-Mueilo S, Monos DS, Murphy B, Olthoff KM, Wijmenga C, Webster T, Kamoun M, Balasubramanian S, Lanktree MB, Oetting WS, Garcia-Pavia P, MacArthur DG, de Bakker PI, Hakonarson H, Birdwell KA, Jacobson PA, Ritchie MD, Asselbergs FW, Israni AK, Shaked A, Keating BJ. Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. Genome Med. 2015 Oct 01; 7:90. PMID: 26423053.
    Citations: 25     Fields:    Translation:Humans
  98. Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. Hum Mol Genet. 2015 Nov 01; 24(21):6146-59. PMID: 26293662.
    Citations: 22     Fields:    Translation:HumansCells
  99. Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science. 2015 May 08; 348(6235):666-9. PMID: 25954003.
    Citations: 96     Fields:    Translation:HumansCells
  100. Grimm DG, Azencott CA, Aicheler F, Gieraths U, MacArthur DG, Samocha KE, Cooper DN, Stenson PD, Daly MJ, Smoller JW, Duncan LE, Borgwardt KM. The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Hum Mutat. 2015 May; 36(5):513-23. PMID: 25684150.
    Citations: 89     Fields:    Translation:Humans
  101. Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, Clarke NF, Laing NG. Expanding the phenotype of GMPPB mutations. Brain. 2015 Apr; 138(Pt 4):836-44. PMID: 25681410.
    Citations: 18     Fields:    Translation:Humans
  102. Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2015 Jan; 125(1):456-7. PMID: 25654555.
    Citations: 10     Fields:    
  103. Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2014 Nov; 124(11):4693-708. PMID: 25250574.
    Citations: 61     Fields:    Translation:HumansAnimalsCells
  104. Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, Daly MJ. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep; 46(9):944-50. PMID: 25086666.
    Citations: 381     Fields:    Translation:Humans
  105. Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hämäläinen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014 Jul; 10(7):e1004494. PMID: 25078778.
    Citations: 144     Fields:    Translation:Humans
  106. Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, García-Ortiz H, Huerta-Chagoya A, Moreno-Macías H, Walford G, Flannick J, Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A, Jiménez-Morales S, Centeno-Cruz F, Mendoza-Caamal E, Revilla-Monsalve C, Islas-Andrade S, Córdova EJ, Soberón X, González-Villalpando ME, Henderson E, Wilkens LR, Le Marchand L, Arellano-Campos O, Ordóñez-Sánchez ML, Rodríguez-Torres M, Rodríguez-Guillén R, Riba L, Najmi LA, Jacobs SB, Fennell T, Gabriel S, Fontanillas P, Hanis CL, Lehman DM, Jenkinson CP, Abboud HE, Bell GI, Cortes ML, Boehnke M, González-Villalpando C, Orozco L, Haiman CA, Tusié-Luna T, Aguilar-Salinas CA, Altshuler D, Njølstad PR, Florez JC, MacArthur DG. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA. 2014 Jun 11; 311(22):2305-14. PMID: 24915262.
    Citations: 80     Fields:    Translation:Humans
  107. Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014 May 01; 94(5):760-9. PMID: 24791901.
    Citations: 29     Fields:    Translation:HumansAnimals
  108. Kukurba KR, Zhang R, Li X, Smith KS, Knowles DA, How Tan M, Piskol R, Lek M, Snyder M, Macarthur DG, Li JB, Montgomery SB. Allelic expression of deleterious protein-coding variants across human tissues. PLoS Genet. 2014 May; 10(5):e1004304. PMID: 24786518.
    Citations: 33     Fields:    Translation:Humans
  109. MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014 Apr 24; 508(7497):469-76. PMID: 24759409.
    Citations: 507     Fields:    Translation:Humans
  110. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. PMID: 24667040.
    Citations: 50     Fields:    Translation:Humans
  111. Lek M, MacArthur D. The Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases. J Neuromuscul Dis. 2014; 1(2):135-149. PMID: 27858772.
    Citations: 9     Fields:    
  112. Robinson EB, Howrigan D, Yang J, Ripke S, Anttila V, Duncan LE, Jostins L, Barrett JC, Medland SE, MacArthur DG, Breen G, O'Donovan MC, Wray NR, Devlin B, Daly MJ, Visscher PM, Sullivan PF, Neale BM. Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'. Mol Psychiatry. 2014 Aug; 19(8):859-61. PMID: 24145379.
    Citations: 10     Fields:    Translation:Humans
  113. Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GRS, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science. 2013 Oct 04; 342(6154):1235587. PMID: 24092746.
    Citations: 187     Fields:    Translation:HumansCells
  114. Seto JT, Quinlan KG, Lek M, Zheng XF, Garton F, MacArthur DG, Hogarth MW, Houweling PJ, Gregorevic P, Turner N, Cooney GJ, Yang N, North KN. ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest. 2013 Oct; 123(10):4255-63. PMID: 24091322.
    Citations: 42     Fields:    Translation:HumansAnimalsCells
  115. Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, Gonzàlez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, MacArthur DG, Lek M, Lizano E, Buermans HP, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Pirinen M, Montgomery SB, Donnelly P, McCarthy MI, Flicek P, Strom TM, Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis SE, Häsler R, Syvänen AC, van Ommen GJ, Brazma A, Meitinger T, Rosenstiel P, Guigó R, Gut IG, Estivill X, Dermitzakis ET. Transcriptome and genome sequencing uncovers functional variation in humans. Nature. 2013 Sep 26; 501(7468):506-11. PMID: 24037378.
    Citations: 799     Fields:    Translation:HumansCells
  116. Kasippillai T, MacArthur DG, Kirby A, Thomas B, Lambalk CB, Daly MJ, Welt CK. Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. J Clin Endocrinol Metab. 2013 Sep; 98(9):E1534-9. PMID: 23902945.
    Citations: 17     Fields:    Translation:Humans
  117. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP. Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell. 2013 Jul 18; 154(2):452-64. PMID: 23870131.
    Citations: 228     Fields:    Translation:Animals
  118. Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ, Lin YY, Muntoni F. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Jul 11; 93(1):29-41. PMID: 23768512.
    Citations: 66     Fields:    Translation:HumansAnimalsCells
  119. The Genotype-Tissue Expression (GTEx) project. Nat Genet. 2013 Jun; 45(6):580-5. PMID: 23715323.
    Citations: 1828     Fields:    Translation:Humans
  120. Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H, Brand O, Burren O, Capon F, Compston A, Gough SC, Jostins L, Kong Y, Lee JC, Lek M, MacArthur DG, Mansfield JC, Mathew CG, Mein CA, Mirza M, Nutland S, Onengut-Gumuscu S, Papouli E, Parkes M, Rich SS, Sawcer S, Satsangi J, Simmonds MJ, Trembath RC, Walker NM, Wozniak E, Todd JA, Simpson MA, Plagnol V, van Heel DA. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature. 2013 Jun 13; 498(7453):232-5. PMID: 23698362.
    Citations: 88     Fields:    Translation:Humans
  121. Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S, Muntoni F, North KN, Reilly MM. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet. 2013 Jun 06; 92(6):965-73. PMID: 23664120.
    Citations: 52     Fields:    Translation:HumansCells
  122. Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 Jan 23; 77(2):235-42. PMID: 23352160.
    Citations: 111     Fields:    Translation:HumansCells
  123. Macarthur D. Methods: Face up to false positives. Nature. 2012 Jul 25; 487(7408):427-8. PMID: 22836983.
    Citations: 13     Fields:    Translation:Humans
  124. MacArthur DG, Lek M. The uncertain road towards genomic medicine. Trends Genet. 2012 Jul; 28(7):303-5. PMID: 22658726.
    Citations: 3     Fields:    
  125. Macarthur DG. Challenges in clinical genomics. Genome Med. 2012 May 22; 4(5):43. PMID: 22621759.
    Citations: 2     Fields:    
  126. Jostins L, Pickrell JK, MacArthur DG, Barrett JC. Misuse of hierarchical linear models overstates the significance of a reported association between OXTR and prosociality. Proc Natl Acad Sci U S A. 2012 May 01; 109(18):E1048. PMID: 22499788.
    Citations: 5     Fields:    Translation:Humans
  127. MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG, Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012 Feb 17; 335(6070):823-8. PMID: 22344438.
    Citations: 549     Fields:    Translation:Humans
  128. Pagani L, Ayub Q, MacArthur DG, Xue Y, Baillie JK, Chen Y, Kozarewa I, Turner DJ, Tofanelli S, Bulayeva K, Kidd K, Paoli G, Tyler-Smith C. High altitude adaptation in Daghestani populations from the Caucasus. Hum Genet. 2012 Mar; 131(3):423-33. PMID: 21904933.
    Citations: 15     Fields:    Translation:Humans
  129. Yang N, Schindeler A, McDonald MM, Seto JT, Houweling PJ, Lek M, Hogarth M, Morse AR, Raftery JM, Balasuriya D, MacArthur DG, Berman Y, Quinlan KG, Eisman JA, Nguyen TV, Center JR, Prince RL, Wilson SG, Zhu K, Little DG, North KN. a-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone. 2011 Oct; 49(4):790-8. PMID: 21784188.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  130. Seto JT, Lek M, Quinlan KG, Houweling PJ, Zheng XF, Garton F, MacArthur DG, Raftery JM, Garvey SM, Hauser MA, Yang N, Head SI, North KN. Deficiency of a-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Hum Mol Genet. 2011 Aug 01; 20(15):2914-27. PMID: 21536590.
    Citations: 30     Fields:    Translation:Animals
  131. Balasubramanian S, Habegger L, Frankish A, MacArthur DG, Harte R, Tyler-Smith C, Harrow J, Gerstein M. Gene inactivation and its implications for annotation in the era of personal genomics. Genes Dev. 2011 Jan 01; 25(1):1-10. PMID: 21205862.
    Citations: 17     Fields:    Translation:Humans
  132. Albers CA, Lunter G, MacArthur DG, McVean G, Ouwehand WH, Durbin R. Dindel: accurate indel calls from short-read data. Genome Res. 2011 Jun; 21(6):961-73. PMID: 20980555.
    Citations: 220     Fields:    
  133. MacArthur DG, Tyler-Smith C. Loss-of-function variants in the genomes of healthy humans. Hum Mol Genet. 2010 Oct 15; 19(R2):R125-30. PMID: 20805107.
    Citations: 77     Fields:    Translation:Humans
  134. Quinlan KG, Seto JT, Turner N, Vandebrouck A, Floetenmeyer M, Macarthur DG, Raftery JM, Lek M, Yang N, Parton RG, Cooney GJ, North KN. Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Hum Mol Genet. 2010 Apr 01; 19(7):1335-46. PMID: 20089531.
    Citations: 22     Fields:    Translation:HumansAnimalsCells
  135. Lek M, MacArthur DG, Yang N, North KN. Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins. Mol Biol Evol. 2010 Apr; 27(4):773-80. PMID: 19897525.
    Citations: 6     Fields:    Translation:AnimalsCells
  136. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME. Origins and functional impact of copy number variation in the human genome. Nature. 2010 Apr 01; 464(7289):704-12. PMID: 19812545.
    Citations: 883     Fields:    Translation:Humans
  137. Xue Y, Zhang X, Huang N, Daly A, Gillson CJ, Macarthur DG, Yngvadottir B, Nica AC, Woodwark C, Chen Y, Conrad DF, Ayub Q, Mehdi SQ, Li P, Tyler-Smith C. Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation. Genetics. 2009 Nov; 183(3):1065-77. PMID: 19737746.
    Citations: 26     Fields:    Translation:Humans
  138. Yngvadottir B, Macarthur DG, Jin H, Tyler-Smith C. The promise and reality of personal genomics. Genome Biol. 2009; 10(9):237. PMID: 19723346.
    Citations: 19     Fields:    Translation:Humans
  139. Xue Y, Wang Q, Long Q, Ng BL, Swerdlow H, Burton J, Skuce C, Taylor R, Abdellah Z, Zhao Y, MacArthur DG, Quail MA, Carter NP, Yang H, Tyler-Smith C. Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr Biol. 2009 Sep 15; 19(17):1453-7. PMID: 19716302.
    Citations: 84     Fields:    Translation:HumansCells
  140. Long Q, MacArthur D, Ning Z, Tyler-Smith C. HI: haplotype improver using paired-end short reads. Bioinformatics. 2009 Sep 15; 25(18):2436-7. PMID: 19570807.
    Citations: 8     Fields:    
  141. Macarthur DG. Biology of Genomes: making sense of sequence. Genome Med. 2009 Jun 12; 1(6):61. PMID: 19566913.
    Citations:    Fields:    
  142. Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord. 2008 Jan; 18(1):34-44. PMID: 17897828.
    Citations: 30     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.