Publications

Lab Publications

Cohen J*, Huang S*, Koczwara KE*, Woods KT*, Ho V, Woodman KG, Arbiser JL, Daman K, Lek M, Emerson CP Jr, DeSimone AM. Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism. Cell Death Dis. 2023 Nov 16;14(11):749. PMID: 37973788

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, Pajusalu S, Spinazzola JM, Gallagher T, LaRovere J, Balderson D, Black L, Sutton K, Horgan R, Lek M*, Flotte T*. Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy. N Engl J Med. 2023 Sep 28;389(13):1203-1210. PMID: 37754285

Lake NJ, Phua J, Liu W, Moors T, Axon S, Lek M. Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases. J Neuromuscul Dis. 2023;10(3):381-387. PMID: 35561159

Lake NJ, Zhou L, Xu J, Lek M. MitoVisualize: a resource for analysis of variants in human mitochondrial RNAs and DNA. Bioinformatics. 2022 May 13;38(10):2967-2969. PMID: 35561159

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. Clin Genet. 2022 Apr;101(4):448-453. PMID: 34988992

Laricchia KM*, Lake NJ*, Watts NA, Shand M, Haessly A, Gauthier L, Benjamin D, Banks E, Soto J, Garimella K, Emery J; Genome Aggregation Database Consortium, Rehm HL, MacArthur DG, Tiao G, Lek M*, Mootha VK*, Calvo SE*. Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Res. 2022 Mar;32(3):569-582. PMID: 35074858

Waddell LB, Bryen SJ, Cummings BB, Bournazos A, Evesson FJ, Joshi H, Marshall JL, Tukiainen T, Valkanas E, Weisburd B, Sadedin S, Davis MR, Faiz F, Gooding R, Sandaradura SA, O’Grady GL, Tchan MC, Mowat DR, Oates EC, Farrar MA, Sampaio H, Ma A, Neas K, Wang MX, Charlton A, Chan C, Kenwright DN, Graf N, Arbuckle S, Clarke NF, MacArthur DG, Jones KJ, Lek M, Cooper ST. WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. Neurol Genet. 2021 Jan 29;7(1):e554. PMID: 33977140

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, Kunkel LM. Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Sci Transl Med. 2020 Mar 25;12(536):eaay0271. PMID: 32213627

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. Genet Med. 2019 Nov;21(11):2512-2520. PMID: 31105274

Lab Review Papers

Koczwara KE*, Lake NJ*, DeSimone AM, Lek M. Neuromuscular disorders: finding the missing genetic diagnoses. Trends Genet. 2022 Sep;38(9):956-971. PMID: 35908999

Lek A, Ma K, Woodman KG, Lek M. Nuclease-Deficient Clustered Regularly Interspaced Short Palindromic Repeat-Based Approaches for In Vitro and In Vivo Gene Activation. Hum Gene Ther. 2021 Mar;32(5-6):260-274. PMID: 33446040

Cohen J, DeSimone A, Lek M, Lek A. Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy. Trends Mol Med. 2021 Feb;27(2):123-137. PMID: 33092966

DeSimone AM, Cohen J, Lek M, Lek A. Cellular and animal models for facioscapulohumeral muscular dystrophy. Dis Model Mech. 2020 Oct 28;13(10):dmm046904. PMID: 33174531

Preprints

Kaiyue Ma, Kenneth K Ng, Shushu Huang, Nicole J Lake, Jenny Xu, Angela Lek, Lin Ge, Keryn G Woodman, Katherine E Koczwara, Vincent Ho, Christine L O’Connor, Soumya Joseph, Melinda A Brindley, Kevin P Campbell, Monkol Lek. Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF). bioRxiv 2023.07.12.548370

Nicole J. Lake, Wei Liu, Stephanie L. Battle, Kristen M. Laricchia, Grace Tiao, Daniela Puiu, Alison G. Compton, Shannon Cowie, John Christodoulou, David R. Thorburn, Hongyu Zhao, Dan E. Arking, Shamil R. Sunyaev, Monkol Lek. Quantifying constraint in the human mitochondrial genome. bioRxiv 2022.12.16.520778

Other Selected Publications

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, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium, Rehm HL, O’Donnell-Luria A. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 Apr;24(4):784-797. PMID: 35148959

Lek M, Hmeljak J, Hooper KM. Genetic variance in human disease – modelling the future of genomic medicine. Dis Model Mech. 2022 Jun 1;15(6):dmm049700. PMID: 35771631

Lek M, Mardis ER. Envisioning the next human genome reference. Dis Model Mech. 2021 Dec 1;14(12):dmm049426. PMID: 34935906

Eraslan G, Drokhlyansky E, Anand S, Fiskin E, Subramanian A, Slyper M, Wang J, Van Wittenberghe N, Rouhana JM, Waldman J, Ashenberg O, Lek M, Dionne D, Win TS, Cuoco MS, Kuksenko O, Tsankov AM, Branton PA, Marshall JL, Greka A, Getz G, Segrè AV, Aguet F, Rozenblatt-Rosen O, Ardlie KG, Regev A. Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function. Science. 2022 May 13;376(6594):eabl4290. PMID: 35549429

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 Genom Med. 2020 Sep 10;5(1):37. PMID: 32963807

Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium, Straub V. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med. 2020 Sep;22(9):1478-1488. PMID: 32528171

Dawes R, Lek M, Cooper ST. Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality. NPJ Genom Med. 2019 Apr 15;4:8. PMID: 30993004

For a full list of publications please refer to google scholar page