Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Elliot Sollis"'
Autor:
Jacqueline A.L. MacArthur, Annalisa Buniello, Laura W. Harris, James Hayhurst, Aoife McMahon, Elliot Sollis, Maria Cerezo, Peggy Hall, Elizabeth Lewis, Patricia L. Whetzel, Orli G. Bahcall, Inês Barroso, Robert J. Carroll, Michael Inouye, Teri A. Manolio, Stephen S. Rich, Lucia A. Hindorff, Ken Wiley, Helen Parkinson
Publikováno v:
Cell Genomics, Vol 1, Iss 1, Pp 100004- (2021)
Summary: Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for increased power in resol
Externí odkaz:
https://doaj.org/article/0dd1d0e208564f39b6fce0f8680c71c1
Autor:
Aoife McMahon, Elizabeth Lewis, Annalisa Buniello, Maria Cerezo, Peggy Hall, Elliot Sollis, Helen Parkinson, Lucia A. Hindorff, Laura W. Harris, Jacqueline A.L. MacArthur
Publikováno v:
Cell Genomics, Vol 1, Iss 1, Pp 100005- (2021)
Summary: Genome sequencing has recently become a viable genotyping technology for use in genome-wide association studies (GWASs), offering the potential to analyze a broader range of genome-wide variation, including rare variants. To survey current s
Externí odkaz:
https://doaj.org/article/3adcd0fc3e984f08927291aab2224c55
Autor:
Elliot Sollis, Joery den Hoed, Marti Quevedo, Sara B Estruch, Arianna Vino, Dick H W Dekkers, Jeroen A A Demmers, Raymond Poot, Pelagia Deriziotis, Simon E Fisher
Publikováno v:
Human Molecular Genetics, 32(9), 1497-1510. Oxford University Press
Human Molecular Genetics. Advance online publication
Human Molecular Genetics. Advance online publication
TBR1 is a neuron-specific transcription factor involved in brain development and implicated in a neurodevelopmental disorder (NDD) combining features of autism spectrum disorder (ASD), intellectual disability (ID) and speech delay. TBR1 has been prev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::462db05495950cb0dc740ecd5a710c89
https://pure.eur.nl/en/publications/a839a967-e395-481e-bdb2-19ad82c70d54
https://pure.eur.nl/en/publications/a839a967-e395-481e-bdb2-19ad82c70d54
Autor:
Ray Stefancsik, James P. Balhoff, Meghan A. Balk, Robyn Ball, Susan M. Bello, Anita R. Caron, Elissa Chessler, Vinicius de Souza, Sarah Gehrke, Melissa Haendel, Laura W. Harris, Nomi L. Harris, Arwa Ibrahim, Sebastian Koehler, Nicolas Matentzoglu, Julie A. McMurry, Christopher J. Mungall, Monica C. Munoz-Torres, Tim Putman, Peter Robinson, Damian Smedley, Elliot Sollis, Anne E Thessen, Nicole Vasilevsky, David O. Walton, David Osumi-Sutherland
Publikováno v:
bioRxiv
Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f3ba90afc362ce02ed181cd277391e8
https://doi.org/10.1101/2023.01.26.525742
https://doi.org/10.1101/2023.01.26.525742
Autor:
Elliot Sollis, Abayomi Mosaku, Ala Abid, Annalisa Buniello, Maria Cerezo, Laurent Gil, Tudor Groza, Osman Güneş, Peggy Hall, James Hayhurst, Arwa Ibrahim, Yue Ji, Sajo John, Elizabeth Lewis, Jacqueline A L MacArthur, Aoife McMahon, David Osumi-Sutherland, Kalliope Panoutsopoulou, Zoë Pendlington, Santhi Ramachandran, Ray Stefancsik, Jonathan Stewart, Patricia Whetzel, Robert Wilson, Lucia Hindorff, Fiona Cunningham, Samuel A Lambert, Michael Inouye, Helen Parkinson, Laura W Harris
Publikováno v:
Nucleic acids research.
The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab0d8788633b34367407df638d7a4bb4
https://pubmed.ncbi.nlm.nih.gov/36350656
https://pubmed.ncbi.nlm.nih.gov/36350656
Autor:
Aoife McMahon, Peggy Hall, Michael Inouye, Elliot Sollis, James D. Hayhurst, Stephen S. Rich, Maria Cerezo, Annalisa Buniello, Laura W. Harris, Inês Barroso, Helen Parkinson, Elizabeth Lewis, Ken Wiley, Teri A. Manolio, Lucia A. Hindorff, Robert J. Carroll, Patricia L. Whetzel, Jacqueline A. L. MacArthur, Orli G. Bahcall
Publikováno v:
Cell genomics. 1(1)
Summary Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for increased power in resolv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f9488ce29170aab9153b5ff67f2b367
https://pubmed.ncbi.nlm.nih.gov/36082306
https://pubmed.ncbi.nlm.nih.gov/36082306
Autor:
Maria Cerezo, Annalisa Buniello, Ala Abid, Peggy Hall, James Hayhurst, Arwa Ibrahim, Sajo John, Elizabeth Lewis, Aoife McMahon, Abayomi Mosaku, Santhi Ramachandran, Elliot Sollis, Fiona Cunningham, Paul Flicek, Lucia Hindorff, Laura Harris, Helen Parkinson
Publikováno v:
Cancer Genetics. :21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c24f7fd962f2e13953e06e4031cfe6fc
https://doi.org/10.1016/j.cancergen.2022.10.067
https://doi.org/10.1016/j.cancergen.2022.10.067
Autor:
Heather Junkins, Paul Flicek, Joannella Morales, Peggy Hall, Harpreet Singh Riat, Elliot Sollis, Aoife McMahon, Stephen J. Trevanion, Laura W. Harris, Patricia L. Whetzel, James D. Hayhurst, Jacqueline A. L. MacArthur, M. Ridwan Amode, Fiona Cunningham, Annalisa Buniello, Daniel Suveges, Tony Burdett, Helen Parkinson, Olga Vrousgou, Jose A. Guillen, Cinzia Malangone, Lucia A. Hindorff, Edward Mountjoy, Maria Cerezo
Publikováno v:
Nucleic Acids Research
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60d3105cc326f46e9be891e5eb48716
http://europepmc.org/articles/PMC6323933
http://europepmc.org/articles/PMC6323933
Autor:
Annalisa Buniello, Elliot Sollis, Laura W. Harris, Jacqueline A. L. MacArthur, Lucia A. Hindorff, Aoife McMahon, Helen Parkinson, Maria Cerezo, Elizabeth Lewis, Peggy Hall
Publikováno v:
Cell genomics
SUMMARY Genome sequencing has recently become a viable genotyping technology for use in genome-wide association studies (GWASs), offering the potential to analyze a broader range of genome-wide variation, including rare variants. To survey current st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2d69fa090c2f40ca2dd9a776d4c7cae
https://doi.org/10.1016/j.xgen.2021.100005
https://doi.org/10.1016/j.xgen.2021.100005
Autor:
Noriko Miyake, Emilia K. Bijlsma, Claudia A. L. Ruivenkamp, Pelagia Deriziotis, Hirotomo Saitsu, Simon E. Fisher, Marielle Alders, Elliot Sollis, Astrid S. Plomp, Nobuhiko Okamoto, Naomichi Matsumoto, Mariëtte J.V. Hoffer
Publikováno v:
Human Mutation
Human Mutation, 38, 11, pp. 1542-1554
Human Mutation, 38(11), 1542-1554
Human Mutation, 38, 1542-1554
Human mutation, 38(11), 1542-1554. Wiley-Liss Inc.
Human Mutation, 38, 11, pp. 1542-1554
Human Mutation, 38(11), 1542-1554
Human Mutation, 38, 1542-1554
Human mutation, 38(11), 1542-1554. Wiley-Liss Inc.
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e8995d787293c0dfe02241f4a26cc36
https://hdl.handle.net/2066/178956
https://hdl.handle.net/2066/178956