| Year |
Citation |
Score |
| 2024 |
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, ... ... MacArthur DG, et al. The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. Medrxiv : the Preprint Server For Health Sciences. PMID 38585825 DOI: 10.1101/2024.03.29.24304673 |
0.741 |
|
| 2024 |
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, ... ... MacArthur DG, et al. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Medrxiv : the Preprint Server For Health Sciences. PMID 38585811 DOI: 10.1101/2024.03.22.24304594 |
0.701 |
|
| 2024 |
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, ... ... MacArthur DG, et al. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. American Journal of Human Genetics. PMID 38565148 DOI: 10.1016/j.ajhg.2024.03.008 |
0.311 |
|
| 2024 |
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, et al. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of Clinical and Translational Neurology. PMID 38544359 DOI: 10.1002/acn3.52041 |
0.693 |
|
| 2024 |
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, ... ... MacArthur DG, et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics. PMID 38429495 DOI: 10.1038/s41588-023-01651-0 |
0.309 |
|
| 2023 |
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, ... ... MacArthur DG, et al. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Medrxiv : the Preprint Server For Health Sciences. PMID 38234731 DOI: 10.1101/2023.12.22.23300468 |
0.712 |
|
| 2023 |
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, ... ... MacArthur DG, et al. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. Medrxiv : the Preprint Server For Health Sciences. PMID 37873196 DOI: 10.1101/2023.10.05.23296595 |
0.538 |
|
| 2022 |
Karczewski KJ, Solomonson M, Chao KR, Goodrich JK, Tiao G, Lu W, Riley-Gillis BM, Tsai EA, Kim HI, Zheng X, Rahimov F, Esmaeeli S, Grundstad AJ, Reppell M, Waring J, ... ... MacArthur DG, et al. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes. Cell Genomics. 2: 100168. PMID 36778668 DOI: 10.1016/j.xgen.2022.100168 |
0.344 |
|
| 2022 |
Dhindsa RS, Wang Q, Vitsios D, Burren OS, Hu F, DiCarlo JE, Kruglyak L, MacArthur DG, Hurles ME, Petrovski S. A minimal role for synonymous variation in human disease. American Journal of Human Genetics. 109: 2105-2109. PMID 36459978 DOI: 10.1016/j.ajhg.2022.10.016 |
0.347 |
|
| 2022 |
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, ... ... MacArthur DG, et al. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35148959 DOI: 10.1016/j.gim.2021.12.005 |
0.692 |
|
| 2022 |
Laricchia KM, Lake NJ, Watts NA, Shand M, Haessly A, Gauthier L, Benjamin D, Banks E, Soto J, Garimella K, Emery J, Rehm HL, MacArthur DG, Tiao G, Lek M, et al. Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Research. PMID 35074858 DOI: 10.1101/gr.276013.121 |
0.695 |
|
| 2021 |
Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M, Consortium GAD, Rehm HL, MacArthur DG, O'Donnell-Luria A. Variant interpretation using population databases: lessons from gnomAD. Human Mutation. PMID 34859531 DOI: 10.1002/humu.24309 |
0.304 |
|
| 2021 |
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, ... ... MacArthur DG, et al. is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing. Blood Cancer Discovery. 2: 500-517. PMID 34568833 DOI: 10.1158/2643-3230.BCD-20-0224 |
0.717 |
|
| 2021 |
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, ... ... MacArthur DG, et al. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. PMID 34373650 DOI: 10.1038/s41586-021-03758-y |
0.7 |
|
| 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 |
0.702 |
|
| 2021 |
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, et al. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. European Journal of Human Genetics : Ejhg. PMID 33649541 DOI: 10.1038/s41431-020-00804-7 |
0.331 |
|
| 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 |
0.697 |
|
| 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 |
0.748 |
|
| 2020 |
Bryen SJ, Oates EC, Evesson FJ, Lu JK, Waddell LB, Joshi H, Ryan MM, Cummings BB, McLean CA, MacArthur DG, Kornberg AJ, Cooper ST. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. European Journal of Human Genetics : Ejhg. PMID 32862205 DOI: 10.1038/S41431-020-00715-7 |
0.427 |
|
| 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 |
0.747 |
|
| 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 |
0.434 |
|
| 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 |
0.315 |
|
| 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 |
0.753 |
|
| 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 |
0.418 |
|
| 2020 |
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, ... ... MacArthur DG, et al. Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nature Communications. 11: 2523. PMID 32461616 DOI: 10.1038/S41467-019-10717-9 |
0.435 |
|
| 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 |
0.442 |
|
| 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 |
0.438 |
|
| 2020 |
McGregor TL, Hunt KA, Yee E, Mason D, Nioi P, Ticau S, Pelosi M, Loken PR, Finer S, Lawlor DA, Fauman EB, Huang QQ, Griffiths CJ, MacArthur DG, Trembath RC, et al. Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria. Elife. 9. PMID 32207686 DOI: 10.7554/Elife.54363 |
0.331 |
|
| 2020 |
Siggs OM, Awadalla MS, Souzeau E, Staffieri SE, Kearns LS, Laurie K, Kuot A, Qassim A, Edwards TL, Coote MA, Mancel E, Walland MJ, Dondey J, Galanopoulous A, Casson RJ, ... ... MacArthur DG, et al. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Clinical Genetics. PMID 32052405 DOI: 10.1111/Cge.13722 |
0.43 |
|
| 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 |
0.663 |
|
| 2019 |
Kampf LL, Schneider R, Gerstner L, Thünauer R, Chen M, Helmstädter M, Amar A, Onuchic-Whitford AC, Loza Munarriz R, Berdeli A, Müller D, Schrezenmeier E, Budde K, Mane S, Laricchia KM, ... ... MacArthur DG, et al. Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. Journal of the American Society of Nephrology : Jasn. PMID 31732614 DOI: 10.1681/Asn.2019040414 |
0.399 |
|
| 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 |
0.376 |
|
| 2019 |
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 (New York, N.Y.). PMID 31601707 DOI: 10.1126/Science.Aay0256 |
0.393 |
|
| 2019 |
Töpf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Güngör S, Lochmüller H, Hiz S, Horvath R. Severe neurodevelopmental disease caused by a homozygous TLK2 variant. European Journal of Human Genetics : Ejhg. PMID 31558842 DOI: 10.1038/S41431-019-0519-X |
0.452 |
|
| 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 |
0.767 |
|
| 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 |
0.422 |
|
| 2019 |
Donkervoort S, Dowling JJ, Laporte J, MacArthur D, Bönnemann CG. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscular Disorders : Nmd. PMID 31400830 DOI: 10.1016/J.Nmd.2019.07.002 |
0.358 |
|
| 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 |
0.672 |
|
| 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 |
0.467 |
|
| 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 |
0.74 |
|
| 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 |
0.721 |
|
| 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 |
0.725 |
|
| 2019 |
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, ... ... MacArthur DG, et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30655598 DOI: 10.1038/S41436-018-0408-7 |
0.453 |
|
| 2019 |
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, et al. Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. American Journal of Human Genetics. 104: 187-190. PMID 30609406 DOI: 10.1016/J.Ajhg.2018.11.012 |
0.343 |
|
| 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 |
0.388 |
|
| 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 |
0.34 |
|
| 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 |
0.716 |
|
| 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 |
0.803 |
|
| 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 |
0.796 |
|
| 2018 |
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. Human Mutation. PMID 30240502 DOI: 10.1002/Humu.23655 |
0.32 |
|
| 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 |
0.785 |
|
| 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 |
0.729 |
|
| 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 |
0.725 |
|
| 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 |
0.743 |
|
| 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 |
0.744 |
|
| 2018 |
Li H, Bloom JM, Farjoun Y, Fleharty M, Gauthier L, Neale B, MacArthur D. A synthetic-diploid benchmark for accurate variant-calling evaluation. Nature Methods. PMID 30013044 DOI: 10.1038/S41592-018-0054-7 |
0.305 |
|
| 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 |
0.711 |
|
| 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 |
0.771 |
|
| 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 |
0.744 |
|
| 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 |
0.424 |
|
| 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 |
0.421 |
|
| 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 |
0.726 |
|
| 2018 |
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. Nature Communications. 9: 1929. PMID 29769526 DOI: 10.1038/S41467-018-04332-3 |
0.367 |
|
| 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 |
0.775 |
|
| 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 |
0.724 |
|
| 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 |
0.787 |
|
| 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 |
0.684 |
|
| 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 |
0.715 |
|
| 2017 |
Lessard S, Francioli L, Alfoldi J, Tardif JC, Ellinor PT, MacArthur DG, Lettre G, Orkin SH, Canver MC. Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci. Proceedings of the National Academy of Sciences of the United States of America. 114: E11257-E11266. PMID 29229813 DOI: 10.1073/Pnas.1714640114 |
0.355 |
|
| 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 |
0.747 |
|
| 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 |
0.665 |
|
| 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 |
0.756 |
|
| 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 |
0.688 |
|
| 2017 |
Harris E, Marini-Bettolo C, Töpf A, Barresi R, Polvikovski T, Bailey G, Charlton R, Tellez J, MacArthur D, Guglieri M, Lochmüller H, Bushby K, Straub V. MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes. Neuromuscular Disorders : Nmd. PMID 29128256 DOI: 10.1016/J.Nmd.2017.09.017 |
0.438 |
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| 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 |
0.756 |
|
| 2017 |
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. Nature Communications. 8: 382. PMID 28851873 DOI: 10.1038/S41467-017-00443-5 |
0.411 |
|
| 2017 |
Mercader JM, Liao RG, Davis A, 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, ... ... MacArthur D, et al. A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes. Diabetes. PMID 28838971 DOI: 10.2337/Db17-0187 |
0.366 |
|
| 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 |
0.734 |
|
| 2017 |
Harris E, Töpf A, Vihola A, Evilä A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmüller H, Bushby K, Udd B, Straub V. A 'second truncation' in TTN causes early onset recessive muscular dystrophy. Neuromuscular Disorders : Nmd. PMID 28716623 DOI: 10.1016/J.Nmd.2017.06.013 |
0.489 |
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| 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 |
0.71 |
|
| 2017 |
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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28518168 DOI: 10.1038/Gim.2017.26 |
0.41 |
|
| 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 |
0.706 |
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| 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 |
0.83 |
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| 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 |
0.445 |
|
| 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 |
0.377 |
|
| 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 |
0.425 |
|
| 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 |
0.759 |
|
| 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 |
0.766 |
|
| 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 |
0.434 |
|
| 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 |
0.737 |
|
| 2017 |
McCarthy MI, MacArthur DG. Human disease genomics: from variants to biology. Genome Biology. 18: 20. PMID 28137298 DOI: 10.1186/S13059-017-1160-Z |
0.382 |
|
| 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 |
0.754 |
|
| 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 |
0.705 |
|
| 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 |
0.771 |
|
| 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 |
0.769 |
|
| 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 |
0.715 |
|
| 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 |
0.305 |
|
| 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 |
0.747 |
|
| 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 |
0.697 |
|
| 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 |
0.738 |
|
| 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 |
0.733 |
|
| 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 |
0.818 |
|
| 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 |
0.807 |
|
| 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 |
0.741 |
|
| 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 |
0.663 |
|
| 2016 |
Kumánovics A, Lee YN, Close DW, Coonrod EM, Ujhazi B, Chen K, MacArthur D, Krivan G, Notarangelo LD, Walter JE. Estimated disease incidence of RAG1/2 mutations: a case report and querying the Exome Aggregation Consortium. The Journal of Allergy and Clinical Immunology. PMID 27609655 DOI: 10.1016/J.Jaci.2016.07.027 |
0.337 |
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| 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 |
0.784 |
|
| 2016 |
Kim JH, Shinde DN, Reijnders MR, Hauser NS, Belmonte RL, Wilson GR, Bosch DG, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CT, ... ... MacArthur DG, et al. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. American Journal of Human Genetics. PMID 27545680 DOI: 10.1016/J.Ajhg.2016.06.029 |
0.398 |
|
| 2016 |
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, ... ... MacArthur DG, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 536: 285-291. PMID 27535533 DOI: 10.1038/Nature19057 |
0.762 |
|
| 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 |
0.74 |
|
| 2016 |
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27532257 DOI: 10.1038/Gim.2016.90 |
0.405 |
|
| 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 |
0.715 |
|
| 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 |
0.792 |
|
| 2016 |
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, ... ... MacArthur D, et al. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? Bmc Medical Genetics. 17: 42. PMID 27282200 DOI: 10.1186/S12881-016-0304-4 |
0.312 |
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| 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 |
0.78 |
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| 2016 |
MacArthur D. Superheroes of disease resistance. Nature Biotechnology. 34: 512-513. PMID 27065009 DOI: 10.1038/Nbt.3555 |
0.353 |
|
| 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 |
0.777 |
|
| 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 |
0.784 |
|
| 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 |
0.806 |
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| 2016 |
Smoller JW, Karlson EW, Green RC, Kathiresan S, MacArthur DG, Talkowski ME, Murphy SN, Weiss ST. An eMERGE Clinical Center at Partners Personalized Medicine. Journal of Personalized Medicine. 6. PMID 26805891 DOI: 10.3390/Jpm6010005 |
0.316 |
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| 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 |
0.732 |
|
| 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 |
0.773 |
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| 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 |
0.727 |
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| 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 |
0.404 |
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| 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 |
0.741 |
|
| 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 |
0.809 |
|
| 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 |
0.798 |
|
| 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 |
0.789 |
|
| 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 |
0.769 |
|
| 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 |
0.7 |
|
| 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 |
0.826 |
|
| 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 |
0.736 |
|
| 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 |
0.306 |
|
| 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 |
0.302 |
|
| 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 |
0.81 |
|
| 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 |
0.765 |
|
| 2015 |
MacArthur D, Van Allen E. Advancing the promise of genomic medicine Science. 348: 715-715. DOI: 10.1126/Science.348.6235.715-C |
0.34 |
|
| 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 |
0.662 |
|
| 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 |
0.73 |
|
| 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 |
0.823 |
|
| 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 |
0.434 |
|
| 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 |
0.744 |
|
| 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 |
0.496 |
|
| 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 |
0.741 |
|
| 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 |
0.725 |
|
| 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 |
0.434 |
|
| 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 |
0.776 |
|
| 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 |
0.828 |
|
| 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 |
0.81 |
|
| 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 |
0.497 |
|
| 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 |
0.576 |
|
| 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 |
0.777 |
|
| 2013 |
Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, Gonzà lez-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 |
0.74 |
|
| 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 |
0.304 |
|
| 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 |
0.395 |
|
| 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 |
0.699 |
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| 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 |
0.747 |
|
| 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 |
0.772 |
|
| 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 |
0.46 |
|
| 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 |
0.718 |
|
| 2013 |
Lek M, Clarke N, Waddell L, Thomas B, DePristo M, Daly M, North K, MacArthur D. O.18 Systematic identification of causal mutations in Mendelian disorders using exome sequence data Neuromuscular Disorders. 23: 850. DOI: 10.1016/J.Nmd.2013.06.728 |
0.824 |
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| 2013 |
Oates E, Rosser A, Hafezparast M, Lek M, Scoto M, Greensmith L, Auer-Grumbach M, Schule R, Herrmann D, Clarke N, MacArthur D, Züchner S, Muntoni F, Reilly M, North K. O.10 Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP) Neuromuscular Disorders. 23: 798. DOI: 10.1016/J.Nmd.2013.06.560 |
0.791 |
|
| 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 |
0.676 |
|
| 2012 |
Macarthur DG. Challenges in clinical genomics. Genome Medicine. 4: 43. PMID 22621759 DOI: 10.1186/Gm342 |
0.323 |
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| 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 |
0.614 |
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| 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 |
0.545 |
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| 2012 |
MacArthur DG, North KN. Chapter 12 - Genes and human elite athletic performance Routledge Online Studies On the Olympic and Paralympic Games. 1: 217-233. DOI: 10.4324/9780203099346_Chapter_12 |
0.604 |
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| 2012 |
MacArthur DG. Sifting disease-causing signal from genomic noise Bmc Proceedings. 6. DOI: 10.1186/1753-6561-6-S6-O8 |
0.482 |
|
| 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 |
0.773 |
|
| 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 |
0.77 |
|
| 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 |
0.57 |
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| 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 |
0.638 |
|
| 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 |
0.36 |
|
| 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 |
0.617 |
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| 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 |
0.77 |
|
| 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 |
0.769 |
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| 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 |
0.561 |
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| 2010 |
Balasubramanian S, Habegger L, Frankish A, MacArthur D, Harte R, Tyler-Smith C, Harrow J, Gerstein M. Defining the human reference protein-coding gene set Genome Biology. 11. DOI: 10.1186/Gb-2010-11-S1-O5 |
0.565 |
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| 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 |
0.523 |
|
| 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 |
0.538 |
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| 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 |
0.577 |
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| 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 |
0.47 |
|
| 2009 |
Macarthur DG. Biology of Genomes: making sense of sequence. Genome Medicine. 1: 61. PMID 19566913 DOI: 10.1186/Gm61 |
0.315 |
|
| 2009 |
Quinlan K, Seto J, Turner N, Floetenmeyer M, Macarthur D, Raftery J, Yang N, Parton R, Cooney G, North K. G.O.4 α-Actinin-3 regulates muscle glycogen phosphorylase: A potential mechanism for the metabolic consequences of the common human null allele of ACTN3 Neuromuscular Disorders. 19: 545-546. DOI: 10.1016/J.Nmd.2009.06.011 |
0.615 |
|
| 2008 |
Chan S, Seto JT, MacArthur DG, Yang N, North KN, Head SI. A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse. American Journal of Physiology. Cell Physiology. 295: C897-904. PMID 18650267 DOI: 10.1152/Ajpcell.00179.2008 |
0.613 |
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| 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 |
0.666 |
|
| 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 |
0.641 |
|
| 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 |
0.671 |
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| 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 |
0.587 |
|
| 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 |
0.661 |
|
| 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 |
0.671 |
|
| 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 |
0.623 |
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| 2006 |
Yang N, MacArthur DG, Kee AJ, Kettle E, Hardeman EC, Lemckert F, Hook J, Gunning PW, North KN. An α-actinin-3 Knockout Mouse Suffers Increased Sarcomeric Damage from Eccentric Exercise Medicine & Science in Sports & Exercise. 38: S123-S124. DOI: 10.1249/00005768-200605001-01445 |
0.558 |
|
| 2006 |
Moran CN, Yang N, MacArthur DG, Vassilopoulos C, Tsiokanos A, Jamurtas A, Bailey ME, Pitsiladis YP, North K, Wilson RH. ACTN3 Genotypes and Obesity-, Power- and Endurance-Related Phenotypes in Adolescent Greeks Medicine & Science in Sports & Exercise. 38: S48-S49. DOI: 10.1249/00005768-200605001-01094 |
0.573 |
|
| 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 |
0.658 |
|
| 2005 |
Yang N, Macarthur D, Wolde B, Onywera VO, Boit MK, Wilson RH, Scott RA, Pitsiladis YP, North K. Actn3 Genotype Is Not Associated With Elite Endurance Athlete Status In Ethiopians And Kenyans Medicine & Science in Sports & Exercise. 37: S472. DOI: 10.1097/00005768-200505001-02469 |
0.594 |
|
| 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 |
0.631 |
|
| 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 |
0.71 |
|
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