Daniel G. MacArthur, Ph.D - Publications

Affiliations: 
Medical and Population Genetics Broad Institute of MIT and Harvard, USA 

162 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 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, ... ... MacArthur DG, et al. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nature Communications. 12: 3505. PMID 34108472 DOI: 10.1038/s41467-021-23556-4  0.6
2021 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, ... ... MacArthur DG, et al. WGS and RNA Studies Diagnose Noncoding Variants in Males With High Creatine Kinase. Neurology. Genetics. 7: e554. PMID 33977140 DOI: 10.1212/NXG.0000000000000554  0.6
2021 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. PMID 33536628 DOI: 10.1038/s41586-020-03177-5  0.32
2021 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, ... ... MacArthur DG, et al. Author Correction: A structural variation reference for medical and population genetics. Nature. PMID 33536627 DOI: 10.1038/s41586-020-03176-6  0.32
2021 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, ... ... MacArthur DG, et al. Author Correction: Transcript expression-aware annotation improves rare variant interpretation. Nature. PMID 33536626 DOI: 10.1038/s41586-020-03175-7  0.32
2021 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, ... ... MacArthur DG, et al. Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. PMID 33536625 DOI: 10.1038/s41586-020-03174-8  0.6
2021 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. Nature Communications. 12: 827. PMID 33531481 DOI: 10.1038/s41467-021-21077-8  0.32
2021 Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, ... ... MacArthur DG, et al. Author Correction: The effect of LRRK2 loss-of-function variants in humans. Nature Medicine. PMID 33483629 DOI: 10.1038/s41591-020-01185-6  0.32
2020 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, ... ... MacArthur DG, et al. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. American Journal of Human Genetics. PMID 32891193 DOI: 10.1016/J.Ajhg.2020.08.013  0.6
2020 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, ... ... MacArthur DG, et al. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32528171 DOI: 10.1038/S41436-020-0840-3  0.6
2020 Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, ... ... MacArthur DG, et al. The effect of LRRK2 loss-of-function variants in humans. Nature Medicine. PMID 32461697 DOI: 10.1038/S41591-020-0893-5  0.32
2020 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, ... ... MacArthur DG, et al. Transcript expression-aware annotation improves rare variant interpretation. Nature. 581: 452-458. PMID 32461655 DOI: 10.1038/s41586-020-2329-2  0.32
2020 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, ... ... MacArthur DG, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 581: 434-443. PMID 32461654 DOI: 10.1038/S41586-020-2308-7  0.6
2020 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. 581: 459-464. PMID 32461653 DOI: 10.1038/s41586-020-2267-z  0.32
2020 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, ... ... MacArthur DG, et al. A structural variation reference for medical and population genetics. Nature. 581: 444-451. PMID 32461652 DOI: 10.1038/S41586-020-2287-8  0.32
2020 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. Nature Communications. 11: 2539. PMID 32461613 DOI: 10.1038/S41467-019-12438-5  0.32
2020 Mroczek M, Durmus H, Bijarnia-Mahay S, Töpf A, Ghaoui R, Bryen S, Duff J, England E, Cooper ST, MacArthur DG, Straub V. Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. Neuromuscular Disorders : Nmd. PMID 32331917 DOI: 10.1016/J.Nmd.2020.02.006  0.36
2020 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, et al. A brief history of human disease genetics. Nature. 577: 179-189. PMID 31915397 DOI: 10.1038/S41586-019-1879-7  0.76
2019 Bryen SJ, Ewans L, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, ... ... MacArthur DG, et al. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Human Mutation. PMID 31660661 DOI: 10.1002/Humu.23938  0.36
2019 Hu Y, Mohassel P, Donkervoort S, Yun P, Bolduc V, Ezzo D, Dastgir J, Marshall JL, Lek M, MacArthur DG, Reghan Foley A, Bönnemann CG. Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation. Journal of Neuromuscular Diseases. PMID 31498126 DOI: 10.3233/Jnd-190414  0.6
2019 Bryen SJ, Joshi H, Evesson FJ, Girard C, Ghaoui R, Waddell LB, Testa AC, Cummings B, Arbuckle S, Graf N, Webster R, MacArthur DG, Laing NG, Davis MR, Lührmann R, et al. Pathogenic Abnormal Splicing due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly. American Journal of Human Genetics. PMID 31447096 DOI: 10.1016/J.Ajhg.2019.07.013  0.36
2019 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, ... ... MacArthur DG, et al. Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. Plos Genetics. 15: e1008190. PMID 31145742 DOI: 10.1371/journal.pgen.1008190  0.6
2019 Riley LG, Waddell LB, Ghaoui R, Evesson FJ, Cummings BB, Bryen SJ, Joshi H, Wang MX, Brammah S, Kritharides L, Corbett A, MacArthur DG, Cooper ST. Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. European Journal of Human Genetics : Ejhg. PMID 31024060 DOI: 10.1038/S41431-019-0393-6  0.36
2019 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, ... ... MacArthur DG, et al. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. Jci Insight. 4. PMID 30895940 DOI: 10.1172/Jci.Insight.124403  0.6
2019 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, ... ... MacArthur D, et al. Resolving the full spectrum of human genome variation using Linked-Reads. Genome Research. PMID 30894395 DOI: 10.1101/Gr.234443.118  0.52
2019 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, ... ... MacArthur DG, et al. The Genetic Landscape of Diamond-Blackfan Anemia. American Journal of Human Genetics. 104: 356. PMID 30735661 DOI: 10.1016/j.ajhg.2018.12.011  0.6
2019 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'. Nature Genetics. 51: 3-4. PMID 30478437 DOI: 10.1038/S41588-018-0301-Y  0.32
2019 Topf A, Johnson K, Mroczek M, Phillips L, Duff J, Valkanas E, England E, MacArthur D, Straub V. E-Posters – Next Generation Sequencing Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.502  0.52
2019 Mroczek M, Töpf A, Duff J, Barresi R, Hudson J, England E, Chao K, MacArthur D, Straub V. P.187CAPN3 c.598_612delTTCTGGAGTGCTCTG: another CAPN3 dominant variant? Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.242  0.52
2019 Topf A, Casasus A, Barresi R, Johnson K, Mroczek M, Duff J, Phillips L, England E, Xu L, Valkanas E, MacArthur D, Straub V. P.175Detection and interpretation of variants in dystroglycanopathy-causing genes in a cohort of 1,566 patients with unexplained limb-girdle muscle weakness Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.230  0.52
2019 Duff J, Topf A, Cox D, Specht S, Mroczek M, England E, Chao K, MacArthur D, Straub V. P.172Identification and characterisation of CAPN3 splicing defect mutations in unexplained cases of LGMD patients from the MYO-SEQ project Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.227  0.52
2019 Bolduc V, Foley A, Degefa HS, Sarathy A, Donkervoort S, Hu Y, Zhou H, Cummings B, Lek M, Regev O, Jimenez-Mallebrera C, Allamand V, Ferlini A, Wilton S, Hanssen E, ... ... MacArthur D, et al. A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.028  0.52
2018 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, ... ... MacArthur DG, et al. The Genetic Landscape of Diamond-Blackfan Anemia. American Journal of Human Genetics. PMID 30503522 DOI: 10.1016/J.Ajhg.2018.10.027  0.6
2018 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, et al. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiological Genomics. 50: 929-939. PMID 30345904 DOI: 10.1152/Physiolgenomics.00036.2018  0.6
2018 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, et al. The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiological Genomics. PMID 30169133 DOI: 10.1152/physiolgenomics.00036.2018  0.6
2018 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, ... ... MacArthur DG, et al. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. Journal of the American Society of Nephrology : Jasn. PMID 30143558 DOI: 10.1681/Asn.2017121265  0.6
2018 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 Biology. 19: 121. PMID 30129428 DOI: 10.1186/S13059-018-1505-2  0.6
2018 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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30072743 DOI: 10.1038/S41436-018-0104-7  0.52
2018 Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, ... ... MacArthur DG, et al. 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. Skeletal Muscle. 8: 23. PMID 30060766 DOI: 10.1186/S13395-018-0170-1  0.6
2018 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, ... ... MacArthur DG, et al. and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. Journal of the American Society of Nephrology : Jasn. PMID 29959197 DOI: 10.1681/Asn.2017121312  0.6
2018 Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Perić S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Łusakowska A, ... ... MacArthur DG, et al. Extending the clinical and mutational spectrum of -related myopathies in a non-Hutterite population. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 29921608 DOI: 10.1136/Jnnp-2018-318288  0.6
2018 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. Neuromuscular Disorders : Nmd. PMID 29910097 DOI: 10.1016/J.Nmd.2018.04.012  0.6
2018 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, ... ... MacArthur D, et al. Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. American Journal of Human Genetics. PMID 29861106 DOI: 10.1016/J.Ajhg.2018.05.002  0.32
2018 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 role of non-essential splice nucleotides. Genome Research. PMID 29858273 DOI: 10.1101/Gr.231902.117  0.32
2018 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, ... ... MacArthur DG, et al. Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. Plos Genetics. 14: e1007329. PMID 29795570 DOI: 10.1371/Journal.Pgen.1007329  0.6
2018 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, ... ... MacArthur DG, et al. Congenital titinopathy: Comprehensive characterisation and pathogenic insights. Annals of Neurology. PMID 29691892 DOI: 10.1002/Ana.25241  0.76
2018 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, ... ... MacArthur DG, et al. Corrigendum: Landscape of X chromosome inactivation across human tissues. Nature. 555: 274. PMID 29517003 DOI: 10.1038/Nature25993  0.32
2018 Johnson K, Bertoli M, Phillips L, Blain A, Ensini M, Töpf A, Lek M, Xu L, Mullen T, Valkanas E, MacArthur DG, Straub V. An international collaboration applying targeted whole exome sequencing to detect causative variants in 1001 patients affected by limb-girdle weakness of unknown origin Neuromuscular Disorders. 28. DOI: 10.1016/S0960-8966(18)30407-3  0.6
2017 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, ... ... MacArthur DG, et al. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nature Communications. 8: 16015. PMID 29313844 DOI: 10.1038/Ncomms16015  0.76
2017 Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, et al. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Human Mutation. PMID 29266598 DOI: 10.1002/Humu.23385  0.76
2017 Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V. Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]. Neuromuscular Disorders : Nmd. PMID 29246662 DOI: 10.1016/J.Nmd.2017.11.012  0.6
2017 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, ... ... MacArthur DG, et al. Limb girdle muscular dystrophy due to mutations in POMT2. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 29175898 DOI: 10.1136/Jnnp-2017-317018  0.6
2017 Schofield D, Alam K, Douglas L, Shrestha R, MacArthur DG, Davis M, Laing NG, Clarke NF, Burns J, Cooper ST, North KN, Sandaradura SA, O'Grady GL. Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. Npj Genomic Medicine. 2. PMID 29152331 DOI: 10.1038/S41525-017-0006-7  0.76
2017 Johnson K, Töpf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Perić S, Hahn A, Maddison P, Akay E, Bastian AE, Łusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, ... MacArthur DG, et al. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet Journal of Rare Diseases. 12: 173. PMID 29149851 DOI: 10.1186/S13023-017-0722-1  0.6
2017 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, ... ... MacArthur DG, et al. Corrigendum: High-throughput discovery of novel developmental phenotypes. Nature. 551: 398. PMID 29144450 DOI: 10.1038/Nature24643  0.6
2017 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, ... ... MacArthur DG, et al. Landscape of X chromosome inactivation across human tissues. Nature. 550: 244-248. PMID 29022598 DOI: 10.1038/Nature24265  0.32
2017 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, et al. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. Orphanet Journal of Rare Diseases. 12: 151. PMID 28877744 DOI: 10.1186/S13023-017-0699-9  0.52
2017 Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. Neuromuscular Disorders : Nmd. PMID 28803818 DOI: 10.1016/J.Nmd.2017.07.006  0.6
2017 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, ... ... Macarthur D, et al. Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics. 49: 969. PMID 28546579 DOI: 10.1038/ng0617-969c  0.52
2017 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. Practical Neurology. PMID 28433973 DOI: 10.1136/Practneurol-2017-001598  0.6
2017 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, ... ... MacArthur DG, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine. 9. PMID 28424332 DOI: 10.1126/scitranslmed.aal5209  0.76
2017 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, ... ... MacArthur DG, et al. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 544: 235-239. PMID 28406212 DOI: 10.1038/Nature22034  0.32
2017 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. Nature Genetics. PMID 28369035 DOI: 10.1038/Ng.3831  0.32
2017 Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, et al. Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell. 169: 6-12. PMID 28340351 DOI: 10.1016/J.Cell.2017.03.005  0.6
2017 Perić S, Glumac JN, Töpf A, Savić-Pavićević D, Phillips L, Johnson K, Cassop-Thompson M, Xu L, Bertoli M, Lek M, MacArthur D, Brkušanin M, Milenković S, Rašić VM, Banko B, et al. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. European Journal of Human Genetics : Ejhg. PMID 28295036 DOI: 10.1038/Ejhg.2017.16  0.52
2017 Houweling PJ, Berman YD, Turner N, Quinlan KG, Seto JT, Yang N, Lek M, Macarthur DG, Cooney G, North KN. Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans. International Journal of Obesity (2005). PMID 28293018 DOI: 10.1038/Ijo.2017.72  0.76
2017 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. Human Mutation. PMID 28229513 DOI: 10.1002/Humu.23203  0.32
2017 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, et al. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nature Genetics. PMID 28191890 DOI: 10.1038/Ng.3789  0.6
2017 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, ... ... Macarthur D, et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics. PMID 28067909 DOI: 10.1038/Ng.3743  0.52
2017 Johnson K, Töpf A, Bertoli M, Phillips L, Ridder WD, Jonghe PD, Baets J, Deconinck T, Stojanovic VR, Peric S, Durmus H, Omidi S, Nafissi S, Lusakowska A, Mongini T, ... ... MacArthur DG, et al. Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weakness Neuromuscular Disorders. 27. DOI: 10.1016/S0960-8966(17)30338-3  0.6
2017 Oates EC, Yau KS, Jones K, Smith JE, Donkervoort S, Swanson L, Charlton A, Brammah S, Peduto AJ, Richard I, Ferreiro A, Hoffman E, Bushby K, Straub V, Udd B, ... ... MacArthur DG, et al. Clinical characterisation of a large international congenital titinopathy cohort Neuromuscular Disorders. 27. DOI: 10.1016/S0960-8966(17)30328-0  0.76
2017 Oates E, Yau K, Jones K, Smith J, Cummings B, Farrar M, Cooper S, Lek M, Hoffman E, Straub V, Ferreiro A, Udd B, Beggs A, Bönnemann C, North K, ... MacArthur D, et al. P.473 - Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy? Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.513  0.52
2017 Johnson K, Arroyo AM, Zulaica M, Fernández-Torrón R, Munain ALd, Töpf A, Bertoli M, Phillips L, Blain A, Ensini M, Lek M, Mullen T, Valkanas E, Xu L, MacArthur D, et al. P.443 - Identification and characterisation of ATP2A1 variants through whole exome sequencing Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.483  0.52
2017 Bolduc V, Foley A, Donkervoort S, Hu Y, Cummings B, Lek M, Sarathy A, Sizov K, Degefa H, Wagener R, Hennig G, Hanssen E, Lamande S, Muntoni F, Wilton S, ... MacArthur D, et al. A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.304  0.52
2017 Foley AR, Donkervoort S, Bolduc V, Hu Y, Cummings B, Lek M, Sarkozy A, Jimenez-Mallebrera C, Butterfield R, Lamande S, Kirschner J, Allamand V, Stojkovic T, Quijano-Roy S, Gualandi F, ... ... MacArthur D, et al. A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.055  0.52
2017 Johnson K, Bertoli M, Phillips L, Blain A, Ensini M, Bushby K, Lochmüller H, Töpf A, Lek M, Xu L, Mullen T, Valkanas E, MacArthur DG, Straub V. The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2016.06.273  0.6
2016 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 Research. PMID 27899611 DOI: 10.1093/Nar/Gkw971  0.6
2016 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. Nature Communications. 7: 13293. PMID 27796292 DOI: 10.1038/Ncomms13293  0.6
2016 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, ... ... MacArthur DG, et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. American Journal of Human Genetics. PMID 27745833 DOI: 10.1016/J.Ajhg.2016.09.005  0.76
2016 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, et al. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. Journal of Human Genetics. PMID 27708273 DOI: 10.1038/Jhg.2016.116  0.6
2016 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, ... ... MacArthur DG, et al. High-throughput discovery of novel developmental phenotypes. Nature. PMID 27626380 DOI: 10.1038/Nature19356  0.32
2016 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, ... ... MacArthur DG, et al. Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nature Communications. 7: 12869. PMID 27619887 DOI: 10.1038/ncomms12869  0.6
2016 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, et al. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology. PMID 27590285 DOI: 10.1212/Wnl.0000000000003179  0.32
2016 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. Nature Genetics. PMID 27533299 DOI: 10.1038/Ng.3638  0.6
2016 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, ... ... MacArthur DG, et al. A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nature Communications. 7: 12342. PMID 27503255 DOI: 10.1038/Ncomms12342  0.32
2016 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. Neuromuscular Disorders : Nmd. PMID 27342937 DOI: 10.1016/J.Nmd.2016.05.013  0.76
2016 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, et al. Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there. Annals of Neurology. PMID 27159402 DOI: 10.1002/Ana.24687  0.6
2016 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, ... ... MacArthur DG, et al. Health and population effects of rare gene knockouts in adult humans with related parents. Science (New York, N.Y.). PMID 26940866 DOI: 10.1126/Science.Aac8624  0.32
2016 Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho K, MacArthur DG, Kunkel LM, Kang PB. A homozygous nonsense mutation in SGCA is a common cause of LGMD in Assiut, Egypt. Muscle & Nerve. PMID 26934379 DOI: 10.1002/Mus.25094  0.32
2016 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. European Journal of Human Genetics : Ejhg. PMID 26813943 DOI: 10.1038/Ejhg.2015.276  0.32
2016 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, ... ... MacArthur DG, et al. Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine. 8: 322ra9. PMID 26791950 DOI: 10.1126/Scitranslmed.Aad5169  0.32
2016 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. Annals of Clinical and Translational Neurology. 3: 55-60. PMID 26783550 DOI: 10.1002/Acn3.267  0.52
2016 Phillips L, Töpf A, Johnson K, Bertoli M, Xu L, Lek M, Claeys K, Bergh PVd, Vissing J, Colomer J, Wallgren-Patterson C, Munain ALd, Vilchez J, Kostera-Pruszczyk A, MacArthur D, et al. Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing Neuromuscular Disorders. 26: 166. DOI: 10.1016/J.Nmd.2016.06.291  0.52
2016 Topf A, Glumac JN, Perić S, Cassop-Thompson M, Bertoli M, Johnson K, Phillips L, MacArthur D, Stojanović VR, Straub V. A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.103  0.52
2016 Johnson K, Bertoli M, Phillips L, Töpf A, Claeys K, Stojanovic VR, Perić S, Vissing J, Hahn A, Maddison P, Akay E, Bastian A, Łusakowska A, Lek M, Xu L, ... MacArthur D, et al. Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations Neuromuscular Disorders. 26: 108-109. DOI: 10.1016/J.Nmd.2016.06.086  0.52
2016 Oates E, Yau K, Donkervoort S, Swanson L, Brammah S, Topf A, Richard I, Ferreiro A, Hoffman E, Bushby K, Straub V, Udd B, Lek M, MacArthur D, Granzier H, et al. Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.018  0.52
2015 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, ... ... MacArthur DG, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. PMID 26718575 DOI: 10.1212/Wnl.0000000000002324  0.32
2015 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 α-Actinin-3 Controls Sarcomeric Composition and Muscle Function in a Dose-Dependent Fashion. Human Molecular Genetics. PMID 26681802 DOI: 10.1093/Hmg/Ddv613  0.32
2015 Yang J, Huang T, Petralia F, Long Q, Zhang B, Argmann C, Zhao Y, Mobbs CV, Schadt EE, Zhu J, Tu Z. Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases. Scientific Reports. 5: 15145. PMID 26477495 DOI: 10.1038/Srep15145  0.32
2015 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, ... ... MacArthur DG, et al. A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signaling. Proceedings of the National Academy of Sciences of the United States of America. PMID 26438848 DOI: 10.1073/Pnas.1517932112  0.32
2015 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, ... ... MacArthur DG, et al. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. Jama Neurology. 1-9. PMID 26436962 DOI: 10.1001/Jamaneurol.2015.2274  0.32
2015 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, ... ... MacArthur DG, et al. Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. Genome Medicine. 7: 90. PMID 26423053 DOI: 10.1186/S13073-015-0211-X  0.32
2015 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, ... ... MacArthur DG, et al. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol (GPI) deficiencies. Human Molecular Genetics. PMID 26293662 DOI: 10.1093/Hmg/Ddv331  0.32
2015 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, ... ... MacArthur DG, et al. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science (New York, N.Y.). 348: 666-9. PMID 25954003 DOI: 10.1126/Science.1261877  0.32
2015 Baran Y, Subramaniam M, Biton A, Tukiainen T, Tsang EK, Rivas MA, Pirinen M, Gutierrez-Arcelus M, Smith KS, Kukurba KR, Zhang R, Eng C, Torgerson DG, Urbanek C, ... ... MacArthur DG, et al. The landscape of genomic imprinting across diverse adult human tissues. Genome Research. 25: 927-36. PMID 25953952 DOI: 10.1101/Gr.192278.115  0.32
2015 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. Human Mutation. 36: 513-23. PMID 25684150 DOI: 10.1002/Humu.22768  0.32
2015 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, et al. Expanding the phenotype of GMPPB mutations. Brain : a Journal of Neurology. 138: 836-44. PMID 25681410 DOI: 10.1093/Brain/Awv013  0.32
2015 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, ... ... MacArthur DG, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 125: 456-7. PMID 25654555 DOI: 10.1172/Jci80057  0.76
2015 Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF. Response. Neuromuscular Disorders : Nmd. 25: 360. PMID 25617004 DOI: 10.1016/j.nmd.2014.12.008  0.36
2015 Ardlie KG, DeLuca DS, Segrè AV, Sullivan TJ, Young TR, Gelfand ET, Trowbridge CA, Maller JB, Tukiainen T, Lek M, Ward LD, Kheradpour P, Iriarte B, Meng Y, Palmer CD, ... ... MacArthur DG, et al. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans Science. 348: 648-660. DOI: 10.1126/science.1262110  0.32
2014 Lek M, MacArthur D. The Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases. Journal of Neuromuscular Diseases. 1: 135-149. PMID 27858772 DOI: 10.3233/Jnd-140032  0.52
2014 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, ... ... MacArthur DG, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708. PMID 25250574 DOI: 10.1172/Jci75199  0.32
2014 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, et al. A framework for the interpretation of de novo mutation in human disease. Nature Genetics. 46: 944-50. PMID 25086666 DOI: 10.1038/Ng.3050  0.32
2014 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, ... ... MacArthur DG, et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. Plos Genetics. 10: e1004494. PMID 25078778 DOI: 10.1371/Journal.Pgen.1004494  0.32
2014 Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscular Disorders : Nmd. 24: 666-70. PMID 24878229 DOI: 10.1016/J.Nmd.2014.04.010  0.32
2014 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, et al. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. American Journal of Human Genetics. 94: 760-9. PMID 24791901 DOI: 10.1016/J.Ajhg.2014.04.003  0.32
2014 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 Genetics. 10: e1004304. PMID 24786518 DOI: 10.1371/Journal.Pgen.1004304  0.32
2014 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, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 508: 469-76. PMID 24759409 DOI: 10.1038/Nature13127  0.32
2014 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, ... ... MacArthur DG, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/Gb-2014-15-3-R53  0.32
2014 Williams AL, Jacobs SB, Moreno-Macías H, Huerta-Chagoya A, Churchhouse C, Márquez-Luna C, García-Ortíz H, Gómez-Vázquez MJ, Burtt NP, Aguilar-Salinas CA, González-Villalpando C, Florez JC, Orozco L, Haiman CA, et al. Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. Nature. 506: 97-101. PMID 24390345 DOI: 10.1038/Nature12828  0.32
2014 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, et al. Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'. Molecular Psychiatry. 19: 859-61. PMID 24145379 DOI: 10.1038/Mp.2013.125  0.32
2014 Ghaoui R, Corbett A, Needham M, Farrar M, Sampaio H, Mowat D, Rajagopalan S, Liang C, Kaur S, Waddell L, Daly K, Thomas BP, Lek M, Daly MJ, North KN, ... MacArthur DG, et al. G.P.219: Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort Neuromuscular Disorders. 24: 882-883. DOI: 10.1016/J.Nmd.2014.06.295  0.76
2014 Oates EC, Yau KS, Charlton A, Brammah S, Farrar MA, Sampaio H, Lamont PL, Mowat D, Fitzsimons RB, Corbett A, Ryan MM, Teoh HL, O’Grady GL, Ghaoui R, Kaur S, ... ... MacArthur DG, et al. G.P.35 Neuromuscular Disorders. 24: 805. DOI: 10.1016/J.Nmd.2014.06.049  0.76
2014 Ghaoui R, Corbett A, Needham M, MacArthur D, Sue C, Clarke N. 19. : Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort Journal of Clinical Neuroscience. 21: 2039. DOI: 10.1016/J.Jocn.2014.06.033  0.52
2013 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, ... ... MacArthur DG, et al. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science (New York, N.Y.). 342: 1235587. PMID 24092746 DOI: 10.1126/Science.1235587  0.32
2013 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. The Journal of Clinical Investigation. 123: 4255-63. PMID 24091322 DOI: 10.1172/Jci67691  0.76
2013 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, ... ... MacArthur DG, et al. Transcriptome and genome sequencing uncovers functional variation in humans. Nature. 501: 506-11. PMID 24037378 DOI: 10.1038/Nature12531  0.32
2013 Kasippillai T, MacArthur DG, Kirby A, Thomas B, Lambalk CB, Daly MJ, Welt CK. Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. The Journal of Clinical Endocrinology and Metabolism. 98: E1534-9. PMID 23902945 DOI: 10.1210/Jc.2013-1102  0.32
2013 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, ... ... Macarthur DG, et al. Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell. 154: 452-64. PMID 23870131 DOI: 10.1016/J.Cell.2013.06.022  0.32
2013 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, ... ... MacArthur DG, et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 93: 29-41. PMID 23768512 DOI: 10.1016/J.Ajhg.2013.05.009  0.32
2013 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, ... ... MacArthur DG, et al. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature. 498: 232-5. PMID 23698362 DOI: 10.1038/Nature12170  0.32
2013 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, et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. American Journal of Human Genetics. 92: 965-73. PMID 23664120 DOI: 10.1016/J.Ajhg.2013.04.018  0.32
2013 Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, Ananda G, Howie B, Karczewski KJ, Smith KS, Anaya V, Richardson R, Davis J, MacArthur DG, et al. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Research. 23: 749-61. PMID 23478400 DOI: 10.1101/Gr.148718.112  0.32
2013 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, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 77: 235-42. PMID 23352160 DOI: 10.1016/J.Neuron.2012.12.029  0.32
2012 MacArthur DG, Lek M. The uncertain road towards genomic medicine. Trends in Genetics : Tig. 28: 303-5. PMID 22658726 DOI: 10.1016/J.Tig.2012.05.001  0.6
2012 Jostins L, Pickrell JK, MacArthur DG, Barrett JC. Misuse of hierarchical linear models overstates the significance of a reported association between OXTR and prosociality. Proceedings of the National Academy of Sciences of the United States of America. 109: E1048. PMID 22499788 DOI: 10.1073/Pnas.1202539109  0.32
2012 Kaye J, Curren L, Anderson N, Edwards K, Fullerton SM, Kanellopoulou N, Lund D, MacArthur DG, Mascalzoni D, Shepherd J, Taylor PL, Terry SF, Winter SF. From patients to partners: participant-centric initiatives in biomedical research. Nature Reviews. Genetics. 13: 371-6. PMID 22473380 DOI: 10.1038/Nrg3218  0.32
2012 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, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science (New York, N.Y.). 335: 823-8. PMID 22344438 DOI: 10.1126/Science.1215040  0.32
2012 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. Human Genetics. 131: 423-33. PMID 21904933 DOI: 10.1007/S00439-011-1084-8  0.32
2011 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, et al. α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone. 49: 790-8. PMID 21784188 DOI: 10.1016/J.Bone.2011.07.009  0.32
2011 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 α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Human Molecular Genetics. 20: 2914-27. PMID 21536590 DOI: 10.1093/Hmg/Ddr196  0.76
2011 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 & Development. 25: 1-10. PMID 21205862 DOI: 10.1101/Gad.1968411  0.32
2011 Seto JT, Chan S, Turner N, MacArthur DG, Raftery JM, Berman YD, Quinlan KG, Cooney GJ, Head S, Yang N, North KN. The effect of α-actinin-3 deficiency on muscle aging. Experimental Gerontology. 46: 292-302. PMID 21112313 DOI: 10.1016/J.Exger.2010.11.006  0.76
2011 Albers CA, Lunter G, MacArthur DG, McVean G, Ouwehand WH, Durbin R. Dindel: accurate indel calls from short-read data. Genome Research. 21: 961-73. PMID 20980555 DOI: 10.1101/Gr.112326.110  0.32
2010 MacArthur DG, Tyler-Smith C. Loss-of-function variants in the genomes of healthy humans. Human Molecular Genetics. 19: R125-30. PMID 20805107 DOI: 10.1093/Hmg/Ddq365  0.36
2010 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. Human Molecular Genetics. 19: 1335-46. PMID 20089531 DOI: 10.1093/Hmg/Ddq010  0.76
2010 Lek M, MacArthur DG, Yang N, North KN. Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins. Molecular Biology and Evolution. 27: 773-80. PMID 19897525 DOI: 10.1093/Molbev/Msp268  0.76
2010 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, et al. Origins and functional impact of copy number variation in the human genome. Nature. 464: 704-12. PMID 19812545 DOI: 10.1038/Nature08516  0.32
2009 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. 183: 1065-77. PMID 19737746 DOI: 10.1534/Genetics.109.107722  0.32
2009 Yngvadottir B, Macarthur DG, Jin H, Tyler-Smith C. The promise and reality of personal genomics. Genome Biology. 10: 237. PMID 19723346 DOI: 10.1186/Gb-2009-10-9-237  0.36
2009 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, et al. Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Current Biology : Cb. 19: 1453-7. PMID 19716302 DOI: 10.1016/J.Cub.2009.07.032  0.36
2009 Long Q, MacArthur D, Ning Z, Tyler-Smith C. HI: haplotype improver using paired-end short reads. Bioinformatics (Oxford, England). 25: 2436-7. PMID 19570807 DOI: 10.1093/Bioinformatics/Btp412  0.36
2008 Amsili S, Zer H, Hinderlich S, Krause S, Becker-Cohen M, MacArthur DG, North KN, Mitrani-Rosenbaum S. UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? Plos One. 3: e2477. PMID 18560563 DOI: 10.1371/Journal.Pone.0002477  0.76
2008 MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN. An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Human Molecular Genetics. 17: 1076-86. PMID 18178581 DOI: 10.1093/Hmg/Ddm380  0.76
2008 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. Neuromuscular Disorders : Nmd. 18: 34-44. PMID 17897828 DOI: 10.1016/J.Nmd.2007.08.009  0.76
2007 Yang N, MacArthur DG, Wolde B, Onywera VO, Boit MK, Lau SY, Wilson RH, Scott RA, Pitsiladis YP, North K. The ACTN3 R577X polymorphism in East and West African athletes. Medicine and Science in Sports and Exercise. 39: 1985-8. PMID 17986906 DOI: 10.1249/Mss.0B013E31814844C9  0.32
2007 MacArthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, Lemckert FA, Kee AJ, Edwards MR, Berman Y, Hardeman EC, Gunning PW, Easteal S, Yang N, North KN. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nature Genetics. 39: 1261-5. PMID 17828264 DOI: 10.1038/Ng2122  0.76
2007 MacArthur DG, North KN. ACTN3: A genetic influence on muscle function and athletic performance. Exercise and Sport Sciences Reviews. 35: 30-4. PMID 17211191 DOI: 10.1097/Jes.0B013E31802D8874  0.76
2007 Moran CN, Yang N, Bailey ME, Tsiokanos A, Jamurtas A, MacArthur DG, North K, Pitsiladis YP, Wilson RH. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. European Journal of Human Genetics : Ejhg. 15: 88-93. PMID 17033684 DOI: 10.1038/Sj.Ejhg.5201724  0.32
2005 Macarthur DG, North KN. Genes and human elite athletic performance. Human Genetics. 116: 331-9. PMID 15726413 DOI: 10.1007/S00439-005-1261-8  0.76
2004 MacArthur DG, North KN. A gene for speed? The evolution and function of alpha-actinin-3. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 26: 786-95. PMID 15221860 DOI: 10.1002/Bies.20061  0.76
2003 Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics. 73: 627-31. PMID 12879365 DOI: 10.1086/377590  0.32
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