Monkol Lek, Ph.D - Publications

Affiliations: 
Genetics Yale University, New Haven, CT 
Area:
Genetics; Genetics, Medical; Neuromuscular Diseases; Genomics
Website:
http://www.leklab.org/

75 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
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, ... ... Lek M, 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  0.44
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, ... ... Lek M, 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  0.44
2020 Lek A, Zhang Y, Woodman KG, Huang S, DeSimone AM, Cohen J, Ho V, Conner J, Mead L, Kodani A, Pakula A, Sanjana N, King OD, Jones PL, Wagner KR, ... Lek M, et al. Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Science Translational Medicine. 12. PMID 32213627 DOI: 10.1126/scitranslmed.aay0271  0.44
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  0.44
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, ... ... Lek M, 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  0.44
2019 Dawes R, Lek M, Cooper ST. Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality. Npj Genomic Medicine. 4: 8. PMID 30993004 DOI: 10.1038/s41525-019-0081-z  0.44
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, 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  0.44
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, ... ... Lek M, 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  0.44
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, ... ... Lek M, et al. The Genetic Landscape of Diamond-Blackfan Anemia. American Journal of Human Genetics. PMID 30503522 DOI: 10.1016/j.ajhg.2018.10.027  0.44
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, 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  0.44
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, ... ... Lek M, 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  0.44
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  0.44
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, ... ... Lek M, 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  0.44
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, ... ... Lek M, 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  0.44
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, ... ... Lek M, 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  0.44
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  0.44
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, ... ... Lek M, 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  0.44
2018 Garton FC, Houweling PJ, Vukcevic D, Meehan LR, Lee FXZ, Lek M, Roeszler KN, Hogarth MW, Tiong CF, Zannino D, Yang N, Leslie S, Gregorevic P, Head SI, Seto JT, et al. The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance. American Journal of Human Genetics. PMID 29706347 DOI: 10.1016/j.ajhg.2018.03.009  0.56
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, ... ... Lek M, et al. Congenital titinopathy: Comprehensive characterisation and pathogenic insights. Annals of Neurology. PMID 29691892 DOI: 10.1002/ana.25241  0.56
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, 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  0.56
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, ... ... Lek M, 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  0.44
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, 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  0.44
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, ... ... Lek M, et al. Corrigendum: High-throughput discovery of novel developmental phenotypes. Nature. 551: 398. PMID 29144450 DOI: 10.1038/nature24643  0.44
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, ... ... Lek M, 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  0.44
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  0.44
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, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine. 9. PMID 28424332 DOI: 10.1126/scitranslmed.aal5209  0.56
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  0.44
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, ... ... Lek M, 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  0.44
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  0.44
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  0.44
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, ... ... Lek M, 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  0.56
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, 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  0.44
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, ... ... Lek M, et al. High-throughput discovery of novel developmental phenotypes. Nature. PMID 27626380 DOI: 10.1038/nature19356  0.44
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, ... ... Lek M, 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  0.44
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  0.44
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, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 536: 285-291. PMID 27535533 DOI: 10.1038/nature19057  0.44
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  0.44
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, ... ... Lek M, et al. A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nature Communications. 7: 12342. PMID 27503255 DOI: 10.1038/ncomms12342  0.44
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  0.56
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  0.44
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, ... ... Lek M, 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  0.44
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  0.44
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  0.44
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, et al. Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine. 8: 322ra9. PMID 26791950 DOI: 10.1126/scitranslmed.aad5169  0.44
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, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. PMID 26718575 DOI: 10.1212/WNL.0000000000002324  0.44
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  0.44
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, 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  0.44
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, 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  0.44
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, et al. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol (GPI) deficiencies. Human Molecular Genetics. PMID 26293662 DOI: 10.1093/hmg/ddv331  0.44
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, 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  0.44
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  0.44
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, 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  0.56
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, 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  0.44
2014 Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L, Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K, Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, et al. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. Nature Communications. 5: 4757. PMID 25187353 DOI: 10.1038/ncomms5757  0.44
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, 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  0.44
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  0.44
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  0.44
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, ... ... Lek M, 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  0.44
2014 Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, ... ... Lek M, et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain : a Journal of Neurology. 137: 44-56. PMID 24253200 DOI: 10.1093/brain/awt315  0.44
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  0.56
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, ... ... Lek M, et al. Transcriptome and genome sequencing uncovers functional variation in humans. Nature. 501: 506-11. PMID 24037378 DOI: 10.1038/nature12531  0.44
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, ... ... Lek M, et al. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature. 498: 232-5. PMID 23698362 DOI: 10.1038/nature12170  0.44
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  0.44
2013 Friedlander SM, Herrmann AL, Lowry DP, Mepham ER, Lek M, North KN, Organ CL. ACTN3 allele frequency in humans covaries with global latitudinal gradient. Plos One. 8: e52282. PMID 23359641 DOI: 10.1371/journal.pone.0052282  0.44
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  0.44
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  0.44
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  0.44
2011 Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF. A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. Neuromuscular Disorders : Nmd. 21: 776-81. PMID 21683594 DOI: 10.1016/j.nmd.2011.05.007  0.56
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  0.56
2010 Lek A, Lek M, North KN, Cooper ST. Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. Bmc Evolutionary Biology. 10: 231. PMID 20667140 DOI: 10.1186/1471-2148-10-231  0.56
2010 Lek M, North KN. Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors. Febs Letters. 584: 2974-80. PMID 20515688 DOI: 10.1016/j.febslet.2010.05.059  0.56
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  0.56
2010 Lek M, Quinlan KGR, North KN. The evolution of skeletal muscle performance: Gene duplication and divergence of human sarcomeric α-actinins Bioessays. 32: 17-25. PMID 19967710 DOI: 10.1002/bies.200900110  0.44
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  0.56
2009 Liu R, Ginn SL, Lek M, North KN, Alexander IE, Little DG, Schindeler A. Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a. Bmc Musculoskeletal Disorders. 10: 51. PMID 19442313 DOI: 10.1186/1471-2474-10-51  0.56
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