Works by MacArthur, Daniel G.

Results: 46

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

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

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

Published in:

Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1

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;
Lek10,11, Monkol;
Xu, Liwen;
MacArthur, Daniel G.;
Straub, Volker

Publication type:

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

Variant interpretation using population databases: Lessons from gnomAD.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1012, doi. 10.1002/humu.24309

By:

Gudmundsson, Sanna;
Singer‐Berk, Moriel;
Watts, Nicholas A.;
Phu, William;
Goodrich, Julia K.;
Solomonson, Matthew;
Rehm, Heidi L.;
MacArthur, Daniel G.;
O'Donnell‐Luria, Anne

Publication type:

Article

An eMERGE Clinical Center at Partners Personalized Medicine.

Published in:

Journal of Personalized Medicine, 2016, v. 6, n. 1, p. 5, doi. 10.3390/jpm6010005

By:

Smoller, Jordan W.;
Kathiresan, Sekar;
MacArthur, Daniel G.;
Talkowski, Michael E.;
Green, Robert C.;
Karlson, Elizabeth W.;
Murphy, Shawn N.;
Weiss, Scott T.

Publication type:

Article

A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04332-3

By:

Estrada, Karol;
Whelan, Christopher W.;
Fengmei Zhao;
Bronson, Paola;
Handsaker, Robert E.;
Chao Sun;
Carulli, John P.;
Harris, Tim;
Ransohoff, Richard M.;
McCarroll, Steven A.;
Day-Williams, Aaron G.;
Greenberg, Benjamin M.;
MacArthur, Daniel G.

Publication type:

Article

Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.

Published in:

Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00443-5

By:

Balasubramanian, Suganthi;
Yao Fu;
Pawashe, Mayur;
McGillivray, Patrick;
Mike Jin;
Jeremy Liu;
Karczewski, Konrad J.;
MacArthur, Daniel G.;
Gerstein, Mark

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

Origins and functional impact of copy number variation in the human genome.

Published in:

Nature, 2010, v. 464, n. 7289, p. 704, doi. 10.1038/nature08516

By:

Conrad, Donald F.;
Pinto, Dalila;
Redon, Richard;
Feuk, Lars;
Gokcumen, Omer;
Yujun Zhang;
Aerts, Jan;
Andrews, T. Daniel;
Barnes, Chris;
Campbell, Peter;
Fitzgerald, Tomas;
Min Hu;
Chun Hwa Ihm;
Kristiansson, Kati;
MacArthur, Daniel G.;
MacDonald, Jeffrey R.;
Onyiah, Ifejinelo;
Wing Chun Pang, Andy;
Robson, Sam;
Stirrups, Kathy

Publication type:

Article

Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.

Published in:

Genome Biology, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13059-024-03248-0

By:

Wieder, Nechama;
D'Souza, Elston N.;
Martin-Geary, Alexandra C.;
Lassen, Frederik H.;
Talbot-Martin, Jonathan;
Fernandes, Maria;
Chothani, Sonia P.;
Rackham, Owen J. L.;
Schafer, Sebastian;
Aspden, Julie L.;
MacArthur, Daniel G.;
Davies, Robert W.;
Whiffin, Nicola

Publication type:

Article

Human disease genomics: from variants to biology.

Published in:

Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1160-z

By:

McCarthy, Mark I.;
MacArthur, Daniel G.

Publication type:

Article

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.

Published in:

Nature Genetics, 2007, v. 39, n. 10, p. 1261, doi. 10.1038/ng2122

By:

MacArthur, Daniel G.;
Seto, Jane T.;
Raftery, Joanna M.;
Quinlan, Kate G.;
Huttley, Gavin A.;
Hook, Jeff W.;
Lemckert, Frances A.;
Kee, Anthony J.;
Edwards, Michael R.;
Berman, Yemima;
Hardeman, Edna C.;
Gunning, Peter W.;
Easteal, Simon;
Nan Yang;
North, Kathryn N.

Publication type:

Article

Population Differentiation as an Indicator of Recent Positive Selection in Humans: An Empirical Evaluation.

Published in:

Genetics, 2009, v. 183, n. 3, p. 1065, doi. 10.1534/genetics.109.107722

By:

1, Yali Xue;
Xuelong Zhang;
Ni Huang;
Daly, Allan;
Gillson, Christopher J.;
MacArthur, Daniel G.;
Yngvadottir, Bryndis;
Nica, Alexandra C.;
Woodwark, Cara;
Yuan Chen;
Conrad, Donald F.;
Qasim Ayub;
Mehdi, S. Qasim;
Pu Li;
Tyler-Smith, Chris

Publication type:

Article

A gene for speed? The evolution and function of α-acting-3.

Published in:

BioEssays, 2004, v. 26, n. 7, p. 786, doi. 10.1002/bies.20061

By:

MacArthur, Daniel G.;
North, 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

matchbox: An open‐source tool for patient matching via the Matchmaker Exchange.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1827, doi. 10.1002/humu.23655

By:

Arachchi, Harindra;
Wojcik, Monica H;
Weisburd, Benjamin;
Jacobsen, Julius O. B.;
Valkanas, Elise;
Baxter, Samantha;
Byrne, Alicia B.;
O'Donnell‐Luria, Anne H.;
Haendel, Melissa;
Smedley, Damian;
MacArthur, Daniel G.;
Philippakis, Anthony A.;
Rehm, Heidi L.

Publication type:

Article

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.

Published in:

Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385

By:

Sandaradura, Sarah A.;
Bournazos, Adam;
Mallawaarachchi, Amali;
Cummings, Beryl B.;
Waddell, Leigh B.;
Jones, Kristi J.;
Troedson, Christopher;
Sudarsanam, Annapurna;
Nash, Benjamin M.;
Peters, Gregory B.;
Algar, Elizabeth M.;
MacArthur, Daniel G.;
North, Kathryn N.;
Brammah, Susan;
Charlton, Amanda;
Laing, Nigel G.;
Wilson, Meredith J.;
Davis, Mark R.;
Cooper, Sandra T.

Publication type:

Article

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 517, doi. 10.1002/humu.23203

By:

Carlston, Colleen M.;
O'Donnell‐Luria, Anne H.;
Underhill, Hunter R.;
Cummings, Beryl B.;
Weisburd, Ben;
Minikel, Eric V.;
Birnbaum, Daniel P.;
Tvrdik, Tatiana;
MacArthur, Daniel G.;
Mao, Rong

Publication type:

Article

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity.

Published in:

Human Mutation, 2015, v. 36, n. 5, p. 513, doi. 10.1002/humu.22768

By:

Grimm, Dominik G.;
Azencott, Chloé‐Agathe;
Aicheler, Fabian;
Gieraths, Udo;
MacArthur, Daniel G.;
Samocha, Kaitlin E.;
Cooper, David N.;
Stenson, Peter D.;
Daly, Mark J.;
Smoller, Jordan W.;
Duncan, Laramie E.;
Borgwardt, Karsten M.

Publication type:

Article

The moral and practical urgency of increasing diversity in genomics.

Published in:

European Heart Journal, 2023, v. 44, n. 48, p. 5157, doi. 10.1093/eurheartj/ehad365

By:

Ingles, Jodie;
MacArthur, Daniel G

Publication type:

Article

From patients to partners: participant-centric initiatives in biomedical research.

Published in:

Nature Reviews Genetics, 2012, v. 13, n. 5, p. 371, doi. 10.1038/nrg3218

By:

Kaye, Jane;
Curren, Liam;
Anderson, Nick;
Edwards, Kelly;
Fullerton, Stephanie M.;
Kanellopoulou, Nadja;
Lund, David;
MacArthur, Daniel G.;
Mascalzoni, Deborah;
Shepherd, James;
Taylor, Patrick L.;
Terry, Sharon F.;
Winter, Stefan F.

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

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

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

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

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

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.

Published in:

Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722

By:

Siggs, Owen M.;
Awadalla, Mona S.;
Souzeau, Emmanuelle;
Staffieri, Sandra E.;
Kearns, Lisa S.;
Laurie, Kate;
Kuot, Abraham;
Qassim, Ayub;
Edwards, Thomas L.;
Coote, Michael A.;
Mancel, Erica;
Walland, Mark J.;
Dondey, Joanne;
Galanopoulous, Anna;
Casson, Robert J.;
Mills, Richard A.;
MacArthur, Daniel G.;
Ruddle, Jonathan B.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 88, doi. 10.1038/sj.ejhg.5201724

By:

Moran, Colin N.;
Nan Yang;
Bailey, Mark E. S.;
Tsiokanos, Athanasios;
Jamurtas, Athanasios;
MacArthur, Daniel G.;
North, Kathryn;
Pitsiladis, Yannis P.;
Wilson, Richard H.

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

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

Loss-of-function variants in the genomes of healthy humans.

Published in:

Human Molecular Genetics, 2010, v. 19, n. R2, p. R125, doi. 10.1093/hmg/ddq365

By:

MacArthur, Daniel G.;
Tyler-Smith, Chris

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

An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 8, p. 1076, doi. 10.1093/hmg/ddm380

By:

MacArthur, Daniel G.;
Seto, Jane T.;
Chan, Stephen;
Quinlan, Kate G.R.;
Raftery, Joanna M.;
Turner, Nigel;
Nicholson, Megan D.;
Kee, Anthony J.;
Hardeman, Edna C.;
Gunning, Peter W.;
Cooney, Gregory J.;
Head, Stewart I.;
Yang, Nan;
North, Kathryn N.

Publication type:

Article

A vast resource of allelic expression data spanning human tissues.

Published in:

Genome Biology, 2020, v. 21, p. 1, doi. 10.1186/s13059-020-02122-z

By:

Castel, Stephane E.;
Aguet, François;
Mohammadi, Pejman;
GTEx Consortium;
Anand, Shankara;
Ardlie, Kristin G.;
Gabriel, Stacey;
Getz, Gad A.;
Graubert, Aaron;
Hadley, Kane;
Handsaker, Robert E.;
Huang, Katherine H.;
Kashin, Seva;
Li, Xiao;
MacArthur, Daniel G.;
Meier, Samuel R.;
Nedzel, Jared L.;
Nguyen, Duyen T.;
Segrè, Ayellet V.;
Todres, Ellen

Publication type:

Article

UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?

Published in:

PLoS ONE, 2008, v. 3, n. 6, p. 1, doi. 10.1371/journal.pone.0002477

By:

Amsili, Shira;
Zer, Hagit;
Hinderlich, Stephan;
Krause, Sabine;
Becker-Cohen, Michal;
MacArthur, Daniel G.;
North, Kathryn N.;
Mitrani-Rosenbaum, Stella

Publication type:

Article

Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues.

Published in:

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

By:

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.

Publication type:

Article

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.

Published in:

NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0006-7

By:

Schofield, Deborah;
Alam, Khurshid;
Douglas, Lyndal;
Shrestha, Rupendra;
MacArthur, Daniel G.;
Davis, Mark;
Laing, Nigel G.;
Clarke, Nigel F.;
Burns, Joshua;
Cooper, Sandra T.;
North, Kathryn N.;
Sandaradura, Sarah A.;
O'Grady, Gina L.

Publication type:

Article

A framework for the interpretation of de novo mutation in human disease.

Published in:

Nature Genetics, 2014, v. 46, n. 9, p. 944, doi. 10.1038/ng.3050

By:

Samocha, Kaitlin E;
Robinson, Elise B;
Sanders, Stephan J;
Stevens, Christine;
Sabo, Aniko;
McGrath, Lauren M;
Kosmicki, Jack A;
Rehnström, Karola;
Mallick, Swapan;
Kirby, Andrew;
Wall, Dennis P;
MacArthur, Daniel G;
Gabriel, Stacey B;
DePristo, Mark;
Purcell, Shaun M;
Palotie, Aarno;
Boerwinkle, Eric;
Buxbaum, Joseph D;
Cook, Edwin H;
Gibbs, Richard A

Publication type:

Article

Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.

Published in:

2013

By:

Kasippillai, Thushiga;
Macarthur, Daniel G;
Kirby, Andrew;
Thomas, Brett;
Lambalk, Cornelius B;
Daly, Mark J;
Welt, Corrine K

Publication type:

journal article

Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people.

Published in:

2020

By:

Finer, Sarah;
Martin, Hilary C;
Khan, Ahsan;
Hunt, Karen A;
MacLaughlin, Beverley;
Ahmed, Zaheer;
Ashcroft, Richard;
Durham, Ceri;
MacArthur, Daniel G;
McCarthy, Mark I;
Robson, John;
Trivedi, Bhavi;
Griffiths, Chris;
Wright, John;
Trembath, Richard C;
Heel, David A van;
van Heel, David A

Publication type:

journal article

STRetch: detecting and discovering pathogenic short tandem repeat expansions.

Published in:

Genome Biology, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s13059-018-1505-2

By:

Dashnow, Harriet;
Lek, Monkol;
Phipson, Belinda;
Halman, Andreas;
Sadedin, Simon;
Lonsdale, Andrew;
Davis, Mark;
Lamont, Phillipa;
Clayton, Joshua S.;
Laing, Nigel G.;
MacArthur, Daniel G.;
Oshlack, Alicia

Publication type:

Article

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.

Published in:

2013

By:

Seto, Jane T;
Quinlan, Kate G R;
Lek, Monkol;
Zheng, Xi Fiona;
Garton, Fleur;
Macarthur, Daniel G;
Hogarth, Marshall W;
Houweling, Peter J;
Gregorevic, Paul;
Turner, Nigel;
Cooney, Gregory J;
Yang, Nan;
North, Kathryn N

Publication type:

journal article

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.

Published in:

Journal of Clinical Investigation, 2013, v. 123, n. 10, p. 4255, doi. 10.1172/JCI67691

By:

Seto, Jane T.;
Quinlan, Kate G. R.;
Monkol Lek;
Zheng, Xi Fiona;
Garton, Fleur;
MacArthur, Daniel G.;
Hogarth, Marshall W.;
Houweling, Peter J.;
Gregorevic, Paul;
Turner, Nigel;
Cooney, Gregory J.;
Nan Yang;
North, Kathryn N.

Publication type:

Article