Works matching AU Marshall, Mhairi

Results: 21

Pfam: clans, web tools and services.

Published in:

Nucleic Acids Research, 2006, v. 34, n. suppl 1, p. d247, doi. 10.1093/nar/gkj149

By:

Finn, Robert D.;
Mistry, Jaina;
Schuster-Böckler, Benjamin;
Griffiths-Jones, Sam;
Hollich, Volker;
Lassmann, Timo;
Moxon, Simon;
Marshall, Mhairi;
Khanna, Ajay;
Durbin, Richard;
Eddy, Sean R.;
Sonnhammer, Erik L. L.;
Bateman, Alex

Publication type:

Article

Rfam: annotating non-coding RNAs in complete genomes.

Published in:

Nucleic Acids Research, 2005, v. 33, n. suppl 1, p. d121

By:

Griffiths-Jones, Sam;
Moxon, Simon;
Marshall, Mhairi;
Khanna, Ajay;
Eddy, Sean R.;
Bateman, Alex

Publication type:

Article

The Pfam protein families database.

Published in:

Nucleic Acids Research, 2004, v. 32, n. suppl 1, p. d138

By:

Bateman, Alex;
Coin, Lachlan;
Durbin, Richard;
Finn, Robert D.;
Hollich, Volker;
Griffiths‐Jones, Sam;
Khanna, Ajay;
Marshall, Mhairi;
Moxon, Simon;
Sonnhammer, Erik L. L.;
Studholme, David J.;
Yeats, Corin;
Eddy, Sean R.

Publication type:

Article

Rfam: an RNA family database.

Published in:

Nucleic Acids Research, 2003, v. 31, n. 1, p. 439, doi. 10.1093/nar/gkg006

By:

Griffiths-Jones, Sam;
Bateman, Alex;
Marshall, Mhairi;
Khanna, Ajay;
Eddy, Sean R.

Publication type:

Article

The Pfam Protein Families Database.

Published in:

Nucleic Acids Research, 2002, v. 30, n. 1, p. 276, doi. 10.1093/nar/30.1.276

By:

Bateman, Alex;
Birney, Ewan;
Cerruti, Lorenzo;
Durbin, Richard;
Etwiller, Laurence;
Eddy, Sean R.;
Griffiths-Jones, Sam;
Howe, Kevin L.;
Marshall, Mhairi;
Sonnhammer, Erik L. L.

Publication type:

Article

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

Published in:

Clinical Endocrinology, 2014, v. 80, n. 1, p. 25, doi. 10.1111/cen.12331

By:

McInerney‐Leo, Aideen M.;
Marshall, Mhairi S.;
Gardiner, Brooke;
Benn, Diana E.;
McFarlane, Janelle;
Robinson, Bruce G.;
Brown, Matthew A.;
Leo, Paul J.;
Clifton‐Bligh, Roderick J.;
Duncan, Emma L.

Publication type:

Article

Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2393, doi. 10.1093/hmg/ddab172

By:

McInerney-Leo, Aideen M.;
Hui Yi Chew;
Inglis, Po-Ling;
Leo, Paul J.;
Joseph, Shannon R.;
Cooper, Caroline L.;
Satomi Okano;
Hassall, Tim;
Anderson, Lisa K.;
Bowman, Rayleen V.;
Gattas, Michael;
Harris, Jessica E.;
Marshall, Mhairi S.;
Shaw, Janet G.;
Wheeler, Lawrie;
Yang, Ian A.;
Brown, Matthew A.;
Fong, Kwun M.;
Simpson, Fiona;
Duncan, Emma L.

Publication type:

Article

HLA Alleles Associated With Risk of Ankylosing Spondylitis and Rheumatoid Arthritis Influence the Gut Microbiome.

Published in:

Arthritis & Rheumatology, 2019, v. 71, n. 10, p. 1642, doi. 10.1002/art.40917

By:

Asquith, Mark;
Sternes, Peter R.;
Costello, Mary‐Ellen;
Karstens, Lisa;
Diamond, Sarah;
Martin, Tammy M.;
Li, Zhixiu;
Marshall, Mhairi S.;
Spector, Timothy D.;
Cao, Kim‐Anh;
Rosenbaum, James T.;
Brown, Matthew A.

Publication type:

Article

Brief Report: Intestinal Dysbiosis in Ankylosing Spondylitis.

Published in:

Arthritis & Rheumatology, 2015, v. 67, n. 3, p. 686, doi. 10.1002/art.38967

By:

Costello, Mary‐Ellen;
Ciccia, Francesco;
Willner, Dana;
Warrington, Nicole;
Robinson, Philip C.;
Gardiner, Brooke;
Marshall, Mhairi;
Kenna, Tony J.;
Triolo, Giovanni;
Brown, Matthew A.

Publication type:

Article

Comparative Pathogenomics Reveals Horizontally Acquired Novel Virulence Genes in Fungi Infecting Cereal Hosts.

Published in:

PLoS Pathogens, 2012, v. 8, n. 9, p. 1, doi. 10.1371/journal.ppat.1002952

By:

Gardiner, Donald M.;
McDonald, Megan C.;
Covarelli, Lorenzo;
Solomon, Peter S.;
Rusu, Anca G.;
Marshall, Mhairi;
Kazan, Kemal;
Chakraborty, Sukumar;
McDonald, Bruce A.;
Manners, John M.

Publication type:

Article

A census of human cancer genes.

Published in:

Nature Reviews Cancer, 2004, v. 4, n. 3, p. 177, doi. 10.1038/nrc1299

By:

Futreal, P. Andrew;
Coin, Lachlan;
Marshall, Mhairi;
Down, Thomas;
Hubbard, Timothy;
Wooster, Richard;
Rahman, Nazneen;
Stratton, Michael R.

Publication type:

Article

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1698, doi. 10.1002/ajmg.a.38215

By:

McInerney‐Leo, Aideen M.;
Wheeler, Lawrie;
Marshall, Mhairi S.;
Anderson, Lisa K.;
Zankl, Andreas;
Brown, Matthew A.;
Leo, Paul J.;
Wicking, Carol;
Duncan, Emma L.

Publication type:

Article

A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.

Published in:

Journal of Bone & Mineral Research, 2020, v. 35, n. 1, p. 92, doi. 10.1002/jbmr.3875

By:

Gregson, Celia L;
Bergen, Dylan J. M.;
Leo, Paul;
Sessions, Richard B;
Wheeler, Lawrie;
Hartley, April;
Youlten, Scott;
Croucher, Peter I;
McInerney‐Leo, Aideen M;
Fraser, William;
Tang, Jonathan CY;
Anderson, Lisa;
Marshall, Mhairi;
Sergot, Leon;
Paternoster, Lavinia;
Davey Smith, George;
Brown, Matthew A;
Hammond, Chrissy;
Kemp, John P;
Tobias, Jon H

Publication type:

Article

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.

Published in:

Journal of Bone & Mineral Research, 2019, v. 34, n. 7, p. 1324, doi. 10.1002/jbmr.3695

By:

Gorvin, Caroline M;
Loh, Nellie Y;
Stechman, Michael J;
Falcone, Sara;
Hannan, Fadil M;
Ahmad, Bushra N;
Piret, Sian E;
Reed, Anita AC;
Jeyabalan, Jeshmi;
Leo, Paul;
Marshall, Mhairi;
Sethi, Siddharth;
Bass, Paul;
Roberts, Ian;
Sanderson, Jeremy;
Wells, Sara;
Hough, Tertius A;
Bentley, Liz;
Christie, Paul T;
Simon, Michelle M

Publication type:

Article

An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.

Published in:

Journal of Bone & Mineral Research, 2019, v. 34, n. 3, p. 497, doi. 10.1002/jbmr.3624

By:

Gorvin, Caroline M;
Ahmad, Bushra N;
Stechman, Michael J;
Loh, Nellie Y;
Hough, Tertius A;
Leo, Paul;
Marshall, Mhairi;
Sethi, Siddharth;
Bentley, Liz;
Piret, Sian E;
Reed, Anita;
Jeyabalan, Jeshmi;
Christie, Paul T;
Wells, Sara;
Simon, Michelle M;
Mallon, Ann‐Marie;
Schulz, Herbert;
Huebner, Norbert;
Brown, Matthew A;
Cox, Roger D

Publication type:

Article

HLA and KIR Associations of Cervical Neoplasia.

Published in:

2018

By:

Bao, Xiao;
Hanson, Aimee L;
Madeleine, Margaret M;
Wang, Sophia S;
Schwartz, Stephen M;
Newell, Felicity;
Pettersson-Kymmer, Ulrika;
Hemminki, Kari;
Tiews, Sven;
Steinberg, Winfried;
Rader, Janet S;
Castro, Felipe;
Safaeian, Mahboobeh;
Franco, Eduardo L;
Coutlée, François;
Ohlsson, Claes;
Cortes, Adrian;
Marshall, Mhairi;
Mukhopadhyay, Pamela;
Cremin, Katie

Publication type:

journal article

Correction: Defining the genetic susceptibility to cervical neoplasia—A genome-wide association study.

Published in:

2018

By:

Leo, Paul J.;
Madeleine, Margaret M.;
Wang, Sophia;
Schwartz, Stephen M.;
Newell, Felicity;
Pettersson-Kymmer, Ulrika;
Hemminki, Kari;
Hallmans, Goran;
Tiews, Sven;
Steinberg, Winfried;
Rader, Janet S.;
Castro, Felipe;
Safaeian, Mahboobeh;
Franco, Eduardo L.;
Coutlée, François;
Ohlsson, Claes;
Cortes, Adrian;
Marshall, Mhairi;
Mukhopadhyay, Pamela;
Cremin, Katie

Publication type:

Correction Notice

Defining the genetic susceptibility to cervical neoplasia—A genome-wide association study.

Published in:

PLoS Genetics, 2017, v. 13, n. 8, p. 1, doi. 10.1371/journal.pgen.1006866

By:

Leo, Paul J.;
Madeleine, Margaret M.;
Wang, Sophia;
Schwartz, Stephen M.;
Newell, Felicity;
Kymmer, Ulrika;
Hemminki, Kari;
Hallmans, Goran;
Tiews, Sven;
Steinberg, Winfried;
Rader, Janet S.;
Castro, Felipe;
Safaeian, Mahboobeh;
Franco, Eduardo L.;
Coutlée, François;
Ohlsson, Claes;
Cortes, Adrian;
Marshall, Mhairi;
Mukhopadhyay, Pamela;
Cremin, Katie

Publication type:

Article

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1234, doi. 10.1093/hmg/ddu534

By:

McInerney-Leo, Aideen M.;
Sparrow, Duncan B.;
Harris, Jessica E.;
Gardiner, Brooke B.;
Marshall, Mhairi S.;
O'Reilly, Victoria C.;
Shi, Hongjun;
Brown, Matthew A.;
Leo, Paul J.;
Zankl, Andreas;
Dunwoodie, Sally L.;
Duncan, Emma L.

Publication type:

Article

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1625, doi. 10.1093/hmg/ddt012

By:

Sparrow, Duncan B.;
McInerney-Leo, Aideen;
Gucev, Zoran S.;
Gardiner, Brooke;
Marshall, Mhairi;
Leo, Paul J.;
Chapman, Deborah L.;
Tasic, Velibor;
Shishko, Abduhadi;
Brown, Matthew A.;
Duncan, Emma L.;
Dunwoodie, Sally L.

Publication type:

Article

Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

Published in:

2021

By:

Seabrook, Amanda J.;
Harris, Jessica E.;
Velosa, Sofia B.;
Kim, Edward;
McInerney-Leo, Aideen M.;
Dwight, Trisha;
Hockings, Jason I.;
Hockings, Nicholas G.;
Kirk, Judy;
Leo, Paul J.;
Love, Amanda J.;
Luxford, Catherine;
Marshall, Mhairi;
Mete, Ozgur;
Pennisi, David J.;
Brown, Matthew A.;
Gill, Anthony J.;
Hockings, Gregory I.;
Clifton-Bligh, Roderick J.;
Duncan, Emma L.

Publication type:

journal article