| Year |
Citation |
Score |
| 2023 |
Ma K, Ng KK, Huang S, Lake NJ, Xu J, Ge L, Woodman KG, Koczwara KE, Lek A, Lek M. Deep Mutational Scanning in Rare Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF). Biorxiv : the Preprint Server For Biology. PMID 37873263 DOI: 10.1101/2023.07.12.548370 |
0.816 |
|
| 2023 |
Lek A, Wong B, Keeler A, Blackwood M, Ma K, Huang S, Sylvia K, Batista AR, Artinian R, Kokoski D, Parajuli S, Putra J, Carreon CK, Lidov H, Woodman K, ... ... Lek M, et al. Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy. The New England Journal of Medicine. 389: 1203-1210. PMID 37754285 DOI: 10.1056/NEJMoa2307798 |
0.774 |
|
| 2023 |
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, et al. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. Human Molecular Genetics. PMID 37133451 DOI: 10.1093/hmg/ddad069 |
0.325 |
|
| 2023 |
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, ... ... Lek M, et al. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a Journal of Neurology. PMID 36757831 DOI: 10.1093/brain/awad039 |
0.333 |
|
| 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, 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 |
0.65 |
|
| 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 |
0.65 |
|
| 2022 |
Liu YD, Huang SS, Li M, Lek M, Song DY, Tan DD, Chen XY, Zhang H, Liu JY, Chang XZ, Xiong H. A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11. Clinical Genetics. PMID 34988992 DOI: 10.1111/cge.14108 |
0.356 |
|
| 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, ... ... Lek M, 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 |
0.683 |
|
| 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, ... ... Lek M, et al. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. PMID 34373650 DOI: 10.1038/s41586-021-03758-y |
0.663 |
|
| 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, ... ... Lek M, 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 |
0.661 |
|
| 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, ... ... Lek M, 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 |
0.66 |
|
| 2021 |
Lek A, Ma K, Woodman K, Lek M. Nuclease-deficient CRISPR-based approaches for in vitro and in vivo gene activation. Human Gene Therapy. PMID 33446040 DOI: 10.1089/hum.2020.241 |
0.781 |
|
| 2020 |
Fung JLF, Yu MHC, Huang S, Chung CCY, Chan MCY, Pajusalu S, Mak CCY, Hui VCC, Tsang MHY, Yeung KS, Lek M, Chung BHY. A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. Npj Genomic Medicine. 5: 37. PMID 32963807 DOI: 10.1038/S41525-020-00144-X |
0.317 |
|
| 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, ... ... Lek M, 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 |
0.723 |
|
| 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 |
0.721 |
|
| 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 |
0.721 |
|
| 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 |
0.592 |
|
| 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 |
0.722 |
|
| 2019 |
Kitzler TM, Schneider R, Kohl S, Kolvenbach CM, Connaughton DM, Dai R, Mann N, Nakayama M, Majmundar AJ, Wu CW, Kari JA, El Desoky SM, Senguttuvan P, Bogdanovic R, Stajic N, ... ... Lek M, et al. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Human Genetics. PMID 31230195 DOI: 10.1007/S00439-019-02042-4 |
0.466 |
|
| 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 |
0.63 |
|
| 2019 |
Liu W, Pajusalu S, Lake NJ, Zhou G, Ioannidis N, Mittal P, Johnson NE, Weihl CC, Williams BA, Albrecht DE, Rufibach LE, Lek M. Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31105274 DOI: 10.1038/S41436-019-0544-8 |
0.426 |
|
| 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 |
0.376 |
|
| 2019 |
Taylor DM, Aronow BJ, Tan K, Bernt K, Salomonis N, Greene CS, Frolova A, Henrickson SE, Wells A, Pei L, Jaiswal JK, Whitsett J, Hamilton KE, MacParland SA, Kelsen J, ... ... Lek M, et al. The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. Developmental Cell. PMID 30930166 DOI: 10.1016/J.Devcel.2019.03.001 |
0.513 |
|
| 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 |
0.714 |
|
| 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, ... ... Lek M, et al. Resolving the full spectrum of human genome variation using Linked-Reads. Genome Research. PMID 30894395 DOI: 10.1101/Gr.234443.118 |
0.684 |
|
| 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 |
0.695 |
|
| 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, 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 |
0.688 |
|
| 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 |
0.785 |
|
| 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 |
0.765 |
|
| 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, 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 |
0.766 |
|
| 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 |
0.701 |
|
| 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 |
0.689 |
|
| 2018 |
Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Daga A, Warejko JK, Nakayama M, Schapiro D, Chen J, ... ... Lek M, et al. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. American Journal of Medical Genetics. Part A. PMID 30079490 DOI: 10.1002/Ajmg.A.40489 |
0.454 |
|
| 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 |
0.712 |
|
| 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 |
0.715 |
|
| 2018 |
Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, ... ... Lek M, et al. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain : a Journal of Neurology. PMID 29985992 DOI: 10.1093/Brain/Awy173 |
0.4 |
|
| 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 |
0.682 |
|
| 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 |
0.727 |
|
| 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 |
0.696 |
|
| 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 |
0.692 |
|
| 2018 |
Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, ... ... Lek M, et al. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. American Journal of Human Genetics. 102: 858-873. PMID 29727687 DOI: 10.1016/J.Ajhg.2018.03.011 |
0.378 |
|
| 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 |
0.651 |
|
| 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 |
0.774 |
|
| 2018 |
Alrohaif H, Töpf A, Evangelista T, Lek M, McArthur D, Lochmüller H. Whole-exome sequencing identifies mutations in in a mild form of Carey-Fineman-Ziter syndrome. Neurology. Genetics. 4: e226. PMID 29560417 DOI: 10.1212/Nxg.0000000000000226 |
0.389 |
|
| 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 |
0.692 |
|
| 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 |
0.769 |
|
| 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 |
0.684 |
|
| 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 |
0.7 |
|
| 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 |
0.708 |
|
| 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 |
0.653 |
|
| 2017 |
van der Ven AT, Shril S, Ityel H, Vivante A, Chen J, Hwang DY, Laricchia KM, Lek M, Tasic V, Hildebrandt F. Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. Molecular Syndromology. 8: 272-277. PMID 28878612 DOI: 10.1159/000477750 |
0.417 |
|
| 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 |
0.73 |
|
| 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 |
0.705 |
|
| 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 |
0.677 |
|
| 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 |
0.677 |
|
| 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 |
0.821 |
|
| 2017 |
Zou Y, Donkervoort S, Salo AM, Reghan Foley A, Barnes AM, Hu Y, Makareeva E, Leach ME, Mohassel P, Dastgir J, Deardorff MA, Cohn RD, DiNonno WO, Malfait F, Lek M, et al. P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Human Molecular Genetics. PMID 28419360 DOI: 10.1093/Hmg/Ddx110 |
0.381 |
|
| 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 |
0.732 |
|
| 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 |
0.744 |
|
| 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 |
0.705 |
|
| 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 |
0.729 |
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| 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, ... Lek M, 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 |
0.671 |
|
| 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, ... Lek M, et al. Clinical characterisation of a large international congenital titinopathy cohort Neuromuscular Disorders. 27. DOI: 10.1016/S0960-8966(17)30328-0 |
0.771 |
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| 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, 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 |
0.768 |
|
| 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 |
0.678 |
|
| 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, 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 |
0.721 |
|
| 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 |
0.662 |
|
| 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 |
0.704 |
|
| 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 |
0.697 |
|
| 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 |
0.804 |
|
| 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 |
0.79 |
|
| 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 |
0.714 |
|
| 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 |
0.618 |
|
| 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 |
0.766 |
|
| 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 |
0.731 |
|
| 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 |
0.706 |
|
| 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 |
0.681 |
|
| 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 |
0.778 |
|
| 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 |
0.763 |
|
| 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 |
0.753 |
|
| 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 |
0.765 |
|
| 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 |
0.793 |
|
| 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 |
0.7 |
|
| 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 |
0.75 |
|
| 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 |
0.691 |
|
| 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, 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 |
0.715 |
|
| 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 |
0.81 |
|
| 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 |
0.785 |
|
| 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 |
0.771 |
|
| 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 |
0.75 |
|
| 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 |
0.66 |
|
| 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 |
0.811 |
|
| 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 |
0.702 |
|
| 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 |
0.797 |
|
| 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 |
0.765 |
|
| 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, et al. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans Science. 348: 648-660. DOI: 10.1126/science.1262110 |
0.619 |
|
| 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 |
0.699 |
|
| 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 |
0.824 |
|
| 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 |
0.321 |
|
| 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 |
0.711 |
|
| 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 |
0.713 |
|
| 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 |
0.689 |
|
| 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 |
0.753 |
|
| 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 |
0.715 |
|
| 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, 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 |
0.815 |
|
| 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, ... Lek M, et al. G.P.35 Neuromuscular Disorders. 24: 805. DOI: 10.1016/J.Nmd.2014.06.049 |
0.797 |
|
| 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 |
0.758 |
|
| 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, ... ... Lek M, et al. Transcriptome and genome sequencing uncovers functional variation in humans. Nature. 501: 506-11. PMID 24037378 DOI: 10.1038/Nature12531 |
0.703 |
|
| 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 |
0.712 |
|
| 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 |
0.756 |
|
| 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 |
0.645 |
|
| 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 |
0.683 |
|
| 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 |
0.811 |
|
| 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 |
0.774 |
|
| 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 |
0.636 |
|
| 2012 |
Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Pallant JF, Lek M, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Annals of Neurology. 71: 642-52. PMID 22522479 DOI: 10.1002/Ana.23572 |
0.63 |
|
| 2012 |
Quinlan K, Seto J, Lek M, Zheng F, Garton F, Houweling P, North K. RARE MYOPATHIES AND EXPERIMENTAL APPROACHES - POSTER PRESENTATIONS G.P.125 ACTN3 genotype influences skeletal muscle performance through alterations in calcineurin signaling Neuromuscular Disorders. 22: 904. DOI: 10.1016/J.Nmd.2012.06.331 |
0.639 |
|
| 2012 |
Waddell LB, Lek M, Bahlo M, Bromhead C, Jones K, North KN, Clarke NF. G.P.41 The identification of LGMD2G (TCAP) in Australia Neuromuscular Disorders. 22: 831-832. DOI: 10.1016/J.Nmd.2012.06.100 |
0.679 |
|
| 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 |
0.755 |
|
| 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 |
0.674 |
|
| 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 |
0.751 |
|
| 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 |
0.653 |
|
| 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 |
0.605 |
|
| 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 |
0.75 |
|
| 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 |
0.661 |
|
| 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 |
0.749 |
|
| 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 |
0.575 |
|
| 2009 |
Schindeler A, Liu R, Ginn SL, Lek M, North KN, Alexander IE, Little DG. Bmpr1a expression correlates with the osteogenic sensitivity of muscle progenitors Bone. 44. DOI: 10.1016/J.Bone.2009.01.345 |
0.576 |
|
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