Works by Lek, Monkol

Results: 54

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy.

Published in:

JAMA Neurology, 2015, v. 72, n. 12, p. 1424, doi. 10.1001/jamaneurol.2015.2274

By:

Ghaoui, Roula;
Cooper, Sandra T.;
Lek, Monkol;
Jones, Kristi;
Corbett, Alastair;
Reddel, Stephen W.;
Needham, Merrilee;
Liang, Christina;
Waddell, Leigh B.;
Nicholson, Garth;
O'Grady, Gina;
Kaur, Simranpreet;
Ong, Royston;
Davis, Mark;
Sue, Carolyn M.;
Laing, Nigel G.;
North, Kathryn N.;
MacArthur, Daniel G.;
Clarke, Nigel F.

Publication type:

Article

Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41785-7

By:

Hong, Yun Soo;
Battle, Stephanie L.;
Shi, Wen;
Puiu, Daniela;
Pillalamarri, Vamsee;
Xie, Jiaqi;
Pankratz, Nathan;
Lake, Nicole J.;
Lek, Monkol;
Rotter, Jerome I.;
Rich, Stephen S.;
Kooperberg, Charles;
Reiner, Alex P.;
Auer, Paul L.;
Heard-Costa, Nancy;
Liu, Chunyu;
Lai, Meng;
Murabito, Joanne M.;
Levy, Daniel;
Grove, Megan L.

Publication type:

Article

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Published in:

2017

By:

Johnson, Katherine;
Töpf, Ana;
Bertoli, Marta;
Phillips, Lauren;
Claeys, Kristl G;
Stojanovic, Vidosava Rakocevic;
Perić, Stojan;
Hahn, Andreas;
Maddison, Paul;
Akay, Ela;
Bastian, Alexandra E;
Łusakowska, Anna;
Kostera-Pruszczyk, Anna;
Lek, Monkol;
Xu, Liwen;
MacArthur, Daniel G;
Straub, Volker

Publication type:

journal article

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Published in:

2017

By:

Harris, Elizabeth;
Topf, Ana;
Barresi, Rita;
Hudson, Judith;
Powell, Helen;
Tellez, James;
Hicks, Debbie;
Porter, Anna;
Bertoli, Marta;
Evangelista, Teresinha;
Marini-Betollo, Chiara;
Magnússon, Ólafur;
Lek, Monkol;
MacArthur, Daniel;
Bushby, Kate;
Lochmüller, Hanns;
Straub, Volker;
Magnússon, Ólafur;
Lochmüller, Hanns

Publication type:

journal article

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

Published in:

2016

By:

O'Grady, Gina L.;
Lek, Monkol;
Lamande, Shireen R.;
Waddell, Leigh;
Oates, Emily C.;
Punetha, Jaya;
Ghaoui, Roula;
Sandaradura, Sarah A.;
Best, Heather;
Kaur, Simranpreet;
Davis, Mark;
Laing, Nigel G.;
Muntoni, Francesco;
Hoffman, Eric;
MacArthur, Daniel G.;
Clarke, Nigel F.;
Cooper, Sandra;
North, Kathryn

Publication type:

journal article

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.

Published in:

Annals of Neurology, 2012, v. 71, n. 5, p. 642, doi. 10.1002/ana.23572

By:

Burns, Joshua;
Ouvrier, Robert;
Estilow, Tim;
Shy, Rosemary;
Laurá, Matilde;
Pallant, Julie F.;
Lek, Monkol;
Muntoni, Francesco;
Reilly, Mary M.;
Pareyson, Davide;
Acsadi, Gyula;
Shy, Michael E.;
Finkel, Richard S.

Publication type:

Article

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Published in:

2019

By:

Rivas, Manuel A.;
Avila, Brandon E.;
Koskela, Jukka;
Huang, Hailiang;
Stevens, Christine;
Pirinen, Matti;
Haritunians, Talin;
Neale, Benjamin M.;
Kurki, Mitja;
Ganna, Andrea;
Graham, Daniel;
Glaser, Benjamin;
Peter, Inga;
Atzmon, Gil;
Barzilai, Nir;
Levine, Adam P.;
Schiff, Elena;
Pontikos, Nikolas;
Weisburd, Ben;
Lek, Monkol

Publication type:

Correction Notice

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Published in:

PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007329

By:

Rivas, Manuel A.;
Avila, Brandon E.;
Koskela, Jukka;
Huang, Hailiang;
Stevens, Christine;
Pirinen, Matti;
Haritunians, Talin;
Neale, Benjamin M.;
Kurki, Mitja;
Ganna, Andrea;
Graham, Daniel;
Glaser, Benjamin;
Peter, Inga;
Atzmon, Gil;
Barzilai, Nir;
Levine, Adam P.;
Schiff, Elena;
Pontikos, Nikolas;
Weisburd, Ben;
Lek, Monkol

Publication type:

Article

Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 797, doi. 10.3233/JND-221596

By:

Zygmunt, Deborah A.;
Lam, Patricia;
Ashbrook, Anna;
Koczwara, Katherine;
Lek, Angela;
Lek, Monkol;
Martin, Paul T.

Publication type:

Article

Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 381, doi. 10.3233/JND-221552

By:

Lake, Nicole J.;
Phua, Joel;
Liu, Wei;
Moors, Tristen;
Axon, Steven;
Lek, Monkol

Publication type:

Article

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

Published in:

BMC Evolutionary Biology, 2010, v. 10, p. 231, doi. 10.1186/1471-2148-10-231

By:

Lek, Angela;
Lek, Monkol;
North, Kathryn N.;
Cooper, Sandra T.

Publication type:

Article

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.

Published in:

Nature, 2013, v. 498, n. 7453, p. 232, doi. 10.1038/nature12170

By:

Hunt, Karen A.;
Mistry, Vanisha;
Bockett, Nicholas A.;
Ahmad, Tariq;
Ban, Maria;
Barker, Jonathan N.;
Barrett, Jeffrey C.;
Blackburn, Hannah;
Brand, Oliver;
Burren, Oliver;
Capon, Francesca;
Compston, Alastair;
Gough, Stephen C. L.;
Jostins, Luke;
Kong, Yong;
Lee, James C.;
Lek, Monkol;
MacArthur, Daniel G.;
Mansfield, John C.;
Mathew, Christopher G.

Publication type:

Article

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 15, p. 2441, doi. 10.1093/hmg/ddad069

By:

Amarasekera, Sumudu S C;
Hock, Daniella H;
Lake, Nicole J;
Calvo, Sarah E;
Grønborg, Sabine W;
Krzesinski, Emma I;
Amor, David J;
Fahey, Michael C;
Simons, Cas;
Wibrand, Flemming;
Mootha, Vamsi K;
Lek, Monkol;
Lunke, Sebastian;
Stark, Zornitza;
Østergaard, Elsebet;
Christodoulou, John;
Thorburn, David R;
Stroud, David A;
Compton, Alison G

Publication type:

Article

Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54443-3

By:

Hong, Yun Soo;
Pasca, Sergiu;
Shi, Wen;
Puiu, Daniela;
Lake, Nicole J.;
Lek, Monkol;
Ru, Meng;
Grove, Megan L.;
Prizment, Anna;
Joshu, Corinne E.;
Platz, Elizabeth A.;
Guallar, Eliseo;
Arking, Dan E.;
Gondek, Lukasz P.

Publication type:

Article

Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders.

Published in:

2021

By:

Legati, Andrea;
Giacopuzzi, Edoardo;
Spinazzi, Marco;
Lek, Monkol

Publication type:

Editorial

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1105, doi. 10.1007/s00439-019-02042-4

By:

Kitzler, Thomas M.;
Schneider, Ronen;
Kohl, Stefan;
Kolvenbach, Caroline M.;
Connaughton, Dervla M.;
Dai, Rufeng;
Mann, Nina;
Nakayama, Makiko;
Majmundar, Amar J.;
Wu, Chen-Han W.;
Kari, Jameela A.;
El Desoky, Sherif M.;
Senguttuvan, Prabha;
Bogdanovic, Radovan;
Stajic, Natasa;
Valivullah, Zaheer;
Lek, Monkol;
Mane, Shrikant;
Lifton, Richard P.;
Tasic, Velibor

Publication type:

Article

The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric α-actinins.

Published in:

BioEssays, 2010, v. 32, n. 1, p. 17, doi. 10.1002/bies.200900110

By:

Lek, Monkol;
Quinlan, Kate G. R.;
Northl, Kathryn N.

Publication type:

Article

Expanding the phenotype of GMPPB mutations.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 4, p. 836, doi. 10.1093/brain/awv013

By:

Cabrera-Serrano, Macarena;
Ghaoui, Roula;
Ravenscroft, Gianina;
Johnsen, Russell D.;
Davis, Mark R.;
Corbett, Alastair;
Reddel, Stephen;
Sue, Carolyn M.;
Christina Liang;
Waddell, Leigh B.;
Kaur, Simranpreet;
Lek, Monkol;
North, Kathryn N.;
MacArthur, Daniel G.;
Lamont, Phillipa J.;
Clarke, Nigel F.;
Laing, Nigel G.

Publication type:

Article

Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a.

Published in:

BMC Musculoskeletal Disorders, 2009, v. 10, p. 1, doi. 10.1186/1471-2474-10-51

By:

Renjing Liu;
Ginn, Samantha L.;
Lek, Monkol;
North, Kathryn N.;
Alexander, Ian E.;
Little, David G.;
Schindeler, Aaron

Publication type:

Article

Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy.

Published in:

Science Translational Medicine, 2020, v. 12, n. 536, p. 1, doi. 10.1126/scitranslmed.aay0271

By:

Lek, Angela;
Zhang, Yuanfan;
Woodman, Keryn G.;
Huang, Shushu;
DeSimone, Alec M.;
Cohen, Justin;
Ho, Vincent;
Conner, James;
Mead, Lillian;
Kodani, Andrew;
Pakula, Anna;
Sanjana, Neville;
King, Oliver D.;
Jones, Peter L.;
Wagner, Kathryn R.;
Lek, Monkol;
Kunkel, Louis M.

Publication type:

Article

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1250, doi. 10.1002/acn3.52041

By:

Marchant, Rhett G.;
Bryen, Samantha J.;
Bahlo, Melanie;
Cairns, Anita;
Chao, Katherine R.;
Corbett, Alastair;
Davis, Mark R.;
Ganesh, Vijay S.;
Ghaoui, Roula;
Jones, Kristi J.;
Kornberg, Andrew J.;
Lek, Monkol;
Liang, Christina;
MacArthur, Daniel G.;
Oates, Emily C.;
O'Donnell‐Luria, Anne;
O'Grady, Gina L.;
Osei‐Owusu, Ikeoluwa A.;
Rafehi, Haloom;
Reddel, Stephen W.

Publication type:

Article

RNAseq analysis for the diagnosis of muscular dystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 55, doi. 10.1002/acn3.267

By:

Gonorazky, Hernan;
Liang, Minggao;
Cummings, Beryl;
Lek, Monkol;
Micallef, Johann;
Hawkins, Cynthia;
Basran, Raveen;
Cohn, Ronald;
Wilson, Michael D.;
MacArthur, Daniel;
Marshall, Christian R.;
Ray, Peter N.;
Dowling, James J.

Publication type:

Article

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-97046-4

By:

Yang, Chaozhe;
Harafuji, Naoe;
O'Connor, Amber K.;
Kesterson, Robert A.;
Watts, Jacob A.;
Majmundar, Amar J.;
Braun, Daniela A.;
Lek, Monkol;
Laricchia, Kristen M.;
Fathy, Hanan M.;
Mane, Shrikant;
Shril, Shirlee;
Hildebrandt, Friedhelm;
Guay-Woodford, Lisa M.

Publication type:

Article

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Published in:

Science Translational Medicine, 2017, v. 9, n. 386, p. 1, doi. 10.1126/scitranslmed.aal5209

By:

Cummings, Beryl B.;
Marshall, Jamie L.;
Tukiainen, Taru;
Lek, Monkol;
Donkervoort, Sandra;
Foley, A. Reghan;
Bolduc, Veronique;
Waddell, Leigh B.;
Sandaradura, Sarah A.;
O'Grady, Gina L.;
Estrella, Elicia;
Reddy, Hemakumar M.;
Zhao, Fengmei;
Weisburd, Ben;
Karczewski, Konrad J.;
O'Donnell-Luria, Anne H.;
Birnbaum, Daniel;
Sarkozy, Anna;
Ying Hu;
Gonorazky, Hernan

Publication type:

Article

Quantifying prion disease penetrance using large population control cohorts.

Published in:

Science Translational Medicine, 2016, v. 8, n. 322, p. 1, doi. 10.1126/scitranslmed.aad5169

By:

Minikel, Eric Vallabh;
Vallabh, Sonia M.;
Monkol Lek;
Estrada, Karol;
Samocha, Kaitlin E.;
Sathirapongsasuti, J. Fah;
McLean, Cory Y.;
Tung, Joyce Y.;
Yu, Linda P. C.;
Gambetti, Pierluigi;
Blevins, Janis;
Shulin Zhang;
Yvonne Cohen;
Wei Chen;
Masahito Yamada;
Tsuyoshi Hamaguchi;
Nobuo Sanjo;
Hidehiro Mizusawa;
Yosikazu Nakamura;
Tetsuyuki Kitamoto

Publication type:

Article

P.191: Prion protein genetic variation in 50,000 humans.

Published in:

Prion, 2014, v. 8, p. 115

By:

Minikel, Eric;
Vallabh, Sonia;
Monkol Lek;
MacArthur, Daniel G.

Publication type:

Article

Exome sequencing in paediatric patients with movement disorders.

Published in:

2021

By:

Kwong, Anna Ka-Yee;
Tsang, Mandy Ho-Yin;
Fung, Jasmine Lee-Fong;
Mak, Christopher Chun-Yu;
Chan, Kate Lok-San;
Rodenburg, Richard J. T.;
Lek, Monkol;
Huang, Shushu;
Pajusalu, Sander;
Yau, Man-Mut;
Tsoi, Cheung;
Fung, Sharon;
Liu, Kam-Tim;
Ma, Che-Kwan;
Wong, Sheila;
Yau, Eric Kin-Cheong;
Tai, Shuk-Mui;
Fung, Eva Lai-Wah;
Wu, Nick Shun-Ping;
Tsung, Li-Yan

Publication type:

journal article

Phylogenetic Analysis of Gene Structure and Alternative Splicing in α-Actinins.

Published in:

Molecular Biology & Evolution, 2010, v. 27, n. 4, p. 773, doi. 10.1093/molbev/msp268

By:

Lek, Monkol;
MacArthur, Daniel G.;
Yang, Nan;
North, Kathryn N.

Publication type:

Article

MitoVisualize: a resource for analysis of variants in human mitochondrial RNAs and DNA.

Published in:

Bioinformatics, 2022, v. 38, n. 10, p. 2967, doi. 10.1093/bioinformatics/btac216

By:

Lake, Nicole J;
Zhou, Lily;
Xu, Jenny;
Lek, Monkol

Publication type:

Article

The ExAC browser: displaying reference data information from over 60 000 exomes.

Published in:

Nucleic Acids Research, 2017, v. 45, n. D1, p. D840, doi. 10.1093/nar/gkw971

By:

Karczewski, Konrad J.;
Weisburd, Ben;
Thomas, Brett;
Solomonson, Matthew;
Ruderfer, Douglas M.;
Kavanagh, David;
Hamamsy, Tymor;
Lek, Monkol;
Samocha, Kaitlin E.;
Cummings, Beryl B.;
Birnbaum, Daniel;
Daly, Mark J.;
MacArthur, Daniel G.

Publication type:

Article

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

Published in:

Nature Communications, 2017, v. 8, n. 7, p. 16015, doi. 10.1038/ncomms16015

By:

Willems, Sara M.;
Wright, Daniel J.;
Day, Felix R.;
Trajanoska, Katerina;
Joshi, Peter K.;
Morris, John A.;
Matteini, Amy M.;
Garton, Fleur C.;
Grarup, Niels;
Oskolkov, Nikolay;
Thalamuthu, Anbupalam;
Mangino, Massimo;
Liu, Jun;
Demirkan, Ayse;
Lek, Monkol;
Xu, Liwen;
Wang, Guan;
Oldmeadow, Christopher;
Gaulton, Kyle J.;
Lotta, Luca A.

Publication type:

Article

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.

Published in:

Nature Communications, 2016, v. 7, n. 10, p. 13293, doi. 10.1038/ncomms13293

By:

Zou, James;
Valiant, Gregory;
Valiant, Paul;
Karczewski, Konrad;
Chan, Siu On;
Samocha, Kaitlin;
Lek, Monkol;
Sunyaev, Shamil;
Daly, Mark;
MacArthur, Daniel G.

Publication type:

Article

Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.

Published in:

Nature Communications, 2014, v. 5, n. 9, p. 4757, doi. 10.1038/ncomms5757

By:

Goldstein, Jacqueline I.;
Fredrik Jarskog, L.;
Hilliard, Chris;
Alfirevic, Ana;
Duncan, Laramie;
Fourches, Denis;
Huang, Hailiang;
Lek, Monkol;
Neale, Benjamin M.;
Ripke, Stephan;
Shianna, Kevin;
Szatkiewicz, Jin P.;
Tropsha, Alexander;
van den Oord, Edwin JCG;
Cascorbi, Ingolf;
Dettling, Michael;
Gazit, Ephraim;
Goff, Donald C.;
Holden, Arthur L.;
Kelly, Deanna L.

Publication type:

Article

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.

Published in:

Molecular Syndromology, 2017, v. 8, n. 5, p. 272, doi. 10.1159/000477750

By:

van der Ven, Amelie T.;
Shril, Shirlee;
Ityel, Hadas;
Vivante, Asaf;
Jing Chen;
Daw-Yang Hwang;
Laricchia, Kristen M.;
Lek, Monkol;
Tasic, Velibor;
Hildebrandt, Friedhelm

Publication type:

Article

A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 448, doi. 10.1111/cge.14108

By:

Liu, Yi‐Dan;
Huang, Shu‐Shu;
Li, Mei;
Lek, Monkol;
Song, Dan‐Yu;
Tan, Dan‐Dan;
Chen, Xiao‐Yu;
Zhang, Hong;
Liu, Jie‐Yu;
Chang, Xing‐Zhi;
Xiong, Hui

Publication type:

Article

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Published in:

2016

By:

Reddy, Hemakumar M.;
Hamed, Sherifa A.;
Lek, Monkol;
Mitsuhashi, Satomi;
Estrella, Elicia;
Jones, Michael D.;
Mahoney, Lane J.;
Duncan, Anna R.;
Cho, Kyung‐ah;
Macarthur, Daniel G.;
Kunkel, Louis M.;
Kang, Peter B.;
Cho, Kyung-Ah

Publication type:

journal article

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 12, p. 2207, doi. 10.1093/hmg/ddx110

By:

Yaqun Zou;
Donkervoort, Sandra;
Salo, Antti M.;
Foley, A. Reghan;
Barnes, Aileen M.;
Ying Hu;
Makareeva, Elena;
Leach, Meganne E.;
Mohassel, Payam;
Dastgir, Jahannaz;
Deardorff, Matthew A.;
Cohn, Ronald D.;
DiNonno, Wendy O.;
Malfait, Fransiska;
Lek, Monkol;
Leikin, Sergey;
Marini, Joan C.;
Myllyharju, Johanna;
Bönnemann, Carsten G.

Publication type:

Article

Analysis of the ACTN3 heterozygous genotype suggests that a-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 5, p. 866, doi. 10.1093/hmg/ddv613

By:

Hogarth, Marshall W.;
Garton, Fleur C.;
Houweling, Peter J.;
Tukiainen, Taru;
Lek, Monkol;
Macarthur, Daniel G.;
Seto, Jane T.;
Quinlan, Kate G. R.;
Nan Yang;
Head, Stewart I.;
North, Kathryn N.

Publication type:

Article

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6146, doi. 10.1093/hmg/ddv331

By:

Ilkovski, Biljana;
Pagnamenta, Alistair T.;
O'Grady, Gina L.;
Kinoshita, Taroh;
Howard, Malcolm F.;
Lek, Monkol;
Thomas, Brett;
Turner, Anne;
Christodoulou, John;
Sillence, David;
Knight, Samantha J. L.;
Popitsch, Niko;
Keays, David A.;
Anzilotti, Consuelo;
Goriely, Anne;
Waddell, Leigh B.;
Brilot, Fabienne;
North, Kathryn N.;
Noriyuki Kanzawa;
Macarthur, Daniel G.

Publication type:

Article

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2914, doi. 10.1093/hmg/ddr196

By:

Seto, Jane T.;
Lek, Monkol;
Quinlan, Kate G.R.;
Houweling, Peter J.;
Zheng, Xi F.;
Garton, Fleur;
MacArthur, Daniel G.;
Raftery, Joanna M.;
Garvey, Sean M.;
Hauser, Michael A.;
Yang, Nan;
Head, Stewart I.;
North, Kathryn N.

Publication type:

Article

α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1335, doi. 10.1093/hmg/ddq010

By:

Quinlan, Kate G.R.;
Seto, Jane T.;
Turner, Nigel;
Vandebrouck, Aurelie;
Floetenmeyer, Matthias;
Macarthur, Daniel G.;
Raftery, Joanna M.;
Lek, Monkol;
Yang, Nan;
Parton, Robert G.;
Cooney, Gregory J.;
North, Kathryn N.

Publication type:

Article

ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient.

Published in:

PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0052282

By:

Friedlander, Scott M.;
Herrmann, Amanda L.;
Lowry, Daniel P.;
Mepham, Emily R.;
Lek, Monkol;
North, Kathryn N.;
Organ, Chris L.

Publication type:

Article

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.

Published in:

PLoS Genetics, 2014, v. 10, n. 7, p. 1, doi. 10.1371/journal.pgen.1004494

By:

Lim, Elaine T.;
Würtz, Peter;
Havulinna, Aki S.;
Palta, Priit;
Tukiainen, Taru;
Rehnström, Karola;
Esko, Tõnu;
Mägi, Reedik;
Inouye, Michael;
Lappalainen, Tuuli;
Chan, Yingleong;
Salem, Rany M.;
Lek, Monkol;
Flannick, Jason;
Sim, Xueling;
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Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues.

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PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004304

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Kukurba, Kimberly R.;
Zhang, Rui;
Li, Xin;
Smith, Kevin S.;
Knowles, David A.;
How Tan, Meng;
Piskol, Robert;
Lek, Monkol;
Snyder, Michael;
MacArthur, Daniel G.;
Li, Jin Billy;
Montgomery, Stephen B.

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A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.

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NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00144-x

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Fung, Jasmine L. F.;
Yu, Mullin H. C.;
Huang, Shushu;
Chung, Claudia C. Y.;
Chan, Marcus C. Y.;
Pajusalu, Sander;
Mak, Christopher C. Y.;
Hui, Vivian C. C.;
Tsang, Mandy H. Y.;
Yeung, Kit San;
Lek, Monkol;
Chung, Brian H. Y.

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Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.

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NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0081-z

By:

Dawes, Ruebena;
Lek, Monkol;
Cooper, Sandra T.

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Article

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.

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NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0081-z

By:

Dawes, Ruebena;
Lek, Monkol;
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Case Report: Two Families With HPDL Related Neurodegeneration.

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Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.780764

By:

Micule, Ieva;
Lace, Baiba;
Wright, Nathan T.;
Chrestian, Nicolas;
Strautmanis, Jurgis;
Diriks, Mikus;
Stavusis, Janis;
Kidere, Dita;
Kleina, Elfa;
Zdanovica, Anna;
Laflamme, Nataly;
Rioux, Nadie;
Setty, Samarth Thonta;
Pajusalu, Sander;
Droit, Arnaud;
Lek, Monkol;
Rivest, Serge;
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Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies.

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Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0211-x

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Yun R. Li;
van Setten, Jessica;
Verma, Shefali S.;
Yontao Lu;
Holmes, Michael V.;
Hui Gao;
Lek, Monkol;
Nair, Nikhil;
Chandrupatla, Hareesh;
Baoli Chang;
Karczewski, Konrad J.;
Wong, Chanel;
Mohebnasab, Maede;
Mukhtar, Eyas;
Phillips, Randy;
Tragante, Vinicius;
Cuiping Hou;
Steel, Laura;
Takesha Lee;
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Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins α-actinin-2 and α-actinin-3 as modulators of biological sensors

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FEBS Letters, 2010, v. 584, n. 14, p. 2974, doi. 10.1016/j.febslet.2010.05.059

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Lek, Monkol;
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