المؤلفون: Matentzoglu, Nicolas, Bello, Susan M, Stefancsik, Ray, Alghamdi, Sarah M, Anagnostopoulos, Anna V, Balhoff, James P, Balk, Meghan A, Bradford, Yvonne M, Bridges, Yasemin, Callahan, Tiffany J, Caufield, Harry, Cuzick, Alayne, Carmody, Leigh C, Caron, Anita R, de Souza, Vinicius, Engel, Stacia R, Fey, Petra, Fisher, Malcolm, Gehrke, Sarah, Grove, Christian, Hansen, Peter, Harris, Nomi L, Harris, Midori A, Harris, Laura, Ibrahim, Arwa, Jacobsen, Julius OB, Köhler, Sebastian, McMurry, Julie A, Munoz-Fuentes, Violeta, Munoz-Torres, Monica C, Parkinson, Helen, Pendlington, Zoë M, Pilgrim, Clare, Robb, Sofia Mc, Robinson, Peter N, Seager, James, Segerdell, Erik, Smedley, Damian, Sollis, Elliot, Toro, Sabrina, Vasilevsky, Nicole, Wood, Valerie, Haendel, Melissa A, Mungall, Christopher J, McLaughlin, James A, Osumi-Sutherland, David

المصدر: bioRxiv. 5(09-27)

مصطلحات موضوعية: Information and Computing Sciences, Biological Sciences, Artificial Intelligence, Genetics, Generic health relevance

URL الوصول: https://escholarship.org/uc/item/2ns940hw

المؤلفون: Stefancsik, Ray, Balhoff, James P, Balk, Meghan A, Ball, Robyn L, Bello, Susan M, Caron, Anita R, Chesler, Elissa J, de Souza, Vinicius, Gehrke, Sarah, Haendel, Melissa, Harris, Laura W, Harris, Nomi L, Ibrahim, Arwa, Koehler, Sebastian, Matentzoglu, Nicolas, McMurry, Julie A, Mungall, Christopher J, Munoz-Torres, Monica C, Putman, Tim, Robinson, Peter, Smedley, Damian, Sollis, Elliot, Thessen, Anne E, Vasilevsky, Nicole, Walton, David O, Osumi-Sutherland, David

المصدر: Mammalian Genome. 34(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Networking and Information Technology R&D (NITRD), Human Genome, 2.5 Research design and methodologies (aetiology), Generic health relevance, Genome-Wide Association Study, Biological Science Disciplines, Phenotype, Biological Ontologies, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4mp261fc
https://escholarship.org/content/qt4mp261fc/qt4mp261fc.pdf

المؤلفون: Cerezo, Maria, Sollis, Elliot, Ji, Yue, Lewis, Elizabeth, Abid, Ala, Bircan, Karatuğ Ozan, Hall, Peggy, Hayhurst, James, John, Sajo, Mosaku, Abayomi, Ramachandran, Santhi, Foreman, Amy, Ibrahim, Arwa, McLaughlin, James, Pendlington, Zoë, Stefancsik, Ray, Lambert, Samuel A, McMahon, Aoife, Morales, Joannella, Keane, Thomas, Inouye, Michael, Parkinson, Helen, Harris, Laura W

مصطلحات موضوعية: Genome-Wide Association Study, Humans, Databases, Genetic, Software, User-Computer Interface

وصف الملف: application/zip; application/pdf; text/xml

Relation: https://www.repository.cam.ac.uk/handle/1810/378218

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/378218

المؤلفون: Sollis, Elliot, den Hoed, Joery, Quevedo, Marti, Estruch, Sara B., Vino, Arianna, Dekkers, Dick H.W., Demmers, Jeroen A.A., Poot, Raymond, Deriziotis, Pelagia, Fisher, Simon E.

المصدر: Sollis , E , den Hoed , J , Quevedo , M , Estruch , S B , Vino , A , Dekkers , D H W , Demmers , J A A , Poot , R , Deriziotis , P & Fisher , S E 2023 , ' Characterization of the TBR1 interactome : variants associated with neurodevelopmental disorders disrupt novel protein interactions ' , Human Molecular Genetics , vol. 32 , no. 9 , pp. 1497-1510 . https://doi.org/10.1093/hmg/ddac311

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/a839a967-e395-481e-bdb2-19ad82c70d54
https://doi.org/10.1093/hmg/ddac311
https://pure.eur.nl/ws/files/94837547/Characterization_of_the_TBR1_interactome_variants_associated_with_neurodevelopmental_disorders_disrupt_novel_protein_interactions.pdf
http://www.scopus.com/inward/record.url?scp=85153411182&partnerID=8YFLogxK

المؤلفون: MacArthur, Jacqueline AL, Buniello, Annalisa, Harris, Laura W, Hayhurst, James, McMahon, Aoife, Sollis, Elliot, Cerezo, Maria, Hall, Peggy, Lewis, Elizabeth, Whetzel, Patricia L, Bahcall, Orli G, Barroso, Inês, Carroll, Robert J, Inouye, Michael, Manolio, Teri A, Rich, Stephen S, Hindorff, Lucia A, Wiley, Ken, Parkinson, Helen

المصدر: essn: 2666-979X ; nlmid: 9918284260106676

مصطلحات موضوعية: 4202 Epidemiology, 31 Biological Sciences, 42 Health Sciences, 3105 Genetics, Genetics, Human Genome

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/341903

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/341903
https://doi.org/10.17863/CAM.89327

المؤلفون: Sollis, Elliot, Mosaku, Abayomi, Abid, Ala, Buniello, Annalisa, Cerezo, Maria, Gil, Laurent, Groza, Tudor, Güneş, Osman, Hall, Peggy, Hayhurst, James, Ibrahim, Arwa, Ji, Yue, John, Sajo, Lewis, Elizabeth, MacArthur, Jacqueline AL, McMahon, Aoife, Osumi-Sutherland, David, Panoutsopoulou, Kalliope, Pendlington, Zoë, Ramachandran, Santhi, Stefancsik, Ray, Stewart, Jonathan, Whetzel, Patricia, Wilson, Robert, Hindorff, Lucia, Cunningham, Fiona, Lambert, Samuel A, Inouye, Michael, Parkinson, Helen, Harris, Laura W

مصطلحات موضوعية: Animals, Humans, Mice, DNA Copy Number Variations, Genome-Wide Association Study, National Human Genome Research Institute (U.S.), Phenotype, Polymorphism, Single Nucleotide, Software, United States, Knowledge Bases

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/343107

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/343107
https://doi.org/10.17863/CAM.90518

المؤلفون: McMahon, Aoife, Lewis, Elizabeth, Buniello, Annalisa, Cerezo, Maria, Hall, Peggy, Sollis, Elliot, Parkinson, Helen, Hindorff, Lucia A., Harris, Laura W., MacArthur, Jacqueline A.L.

المساهمون: National Human Genome Research Institute, European Bioinformatics Institute, National Institutes of Health, European Molecular Biology Laboratory

المصدر: Cell Genomics ; volume 1, issue 1, page 100005 ; ISSN 2666-979X

الاتاحة: http://dx.doi.org/10.1016/j.xgen.2021.100005
https://api.elsevier.com/content/article/PII:S2666979X21000057?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666979X21000057?httpAccept=text/plain

المؤلفون: MacArthur, Jacqueline A.L., Buniello, Annalisa, Harris, Laura W., Hayhurst, James, McMahon, Aoife, Sollis, Elliot, Cerezo, Maria, Hall, Peggy, Lewis, Elizabeth, Whetzel, Patricia L., Bahcall, Orli G., Barroso, Inês, Carroll, Robert J., Inouye, Michael, Manolio, Teri A., Rich, Stephen S., Hindorff, Lucia A., Wiley, Ken, Parkinson, Helen

المساهمون: National Human Genome Research Institute, University of Virginia, European Bioinformatics Institute, Vanderbilt University Medical Center, European Molecular Biology Laboratory, University of Exeter, National Institutes of Health, Research England

المصدر: Cell Genomics ; volume 1, issue 1, page 100004 ; ISSN 2666-979X

الاتاحة: http://dx.doi.org/10.1016/j.xgen.2021.100004
https://api.elsevier.com/content/article/PII:S2666979X21000045?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666979X21000045?httpAccept=text/plain

المؤلفون: den Hoed, Joery, Sollis, Elliot, Venselaar, Hanka, Estruch, Sara B., Deriziotis, Pelagia, Fisher, Simon E.

المصدر: Scientific Reports ; volume 8, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-018-32053-6
https://www.nature.com/articles/s41598-018-32053-6.pdf
https://www.nature.com/articles/s41598-018-32053-6

المؤلفون: Buniello, Annalisa, MacArthur, Jacqueline A L, Cerezo, Maria, Harris, Laura W, Hayhurst, James, Malangone, Cinzia, McMahon, Aoife, Morales, Joannella, Mountjoy, Edward, Sollis, Elliot, Suveges, Daniel, Vrousgou, Olga, Whetzel, Patricia L, Amode, Ridwan, Guillen, Jose A, Riat, Harpreet S, Trevanion, Stephen J, Hall, Peggy, Junkins, Heather, Flicek, Paul, Burdett, Tony, Hindorff, Lucia A, Cunningham, Fiona, Parkinson, Helen

المساهمون: National Institutes of Health

المصدر: Nucleic Acids Research ; volume 47, issue D1, page D1005-D1012 ; ISSN 0305-1048 1362-4962

الاتاحة: https://doi.org/10.1093/nar/gky1120
http://academic.oup.com/nar/article-pdf/47/D1/D1005/27437312/gky1120.pdf

المؤلفون: Estruch, Sara B, Graham, Sarah A, Quevedo, Martí, Vino, Arianna, Dekkers, Dick H W, Deriziotis, Pelagia, Sollis, Elliot, Demmers, Jeroen, Poot, Raymond A, Fisher, Simon E

المساهمون: Max Planck Society

المصدر: Human Molecular Genetics ; volume 27, issue 7, page 1212-1227 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddy035
http://academic.oup.com/hmg/article-pdf/27/7/1212/25121346/ddy035.pdf

المؤلفون: Estruch, Sara B, Graham, Sarah A, Quevedo, Martí, Vino, Arianna, Dekkers, Dick H W, Deriziotis, Pelagia, Sollis, Elliot, Demmers, Jeroen, Poot, Raymond A, Fisher, Simon E

المصدر: Human Molecular Genetics ; volume 31, issue 24, page 4295-4295 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الاتاحة: http://dx.doi.org/10.1093/hmg/ddy230
https://academic.oup.com/hmg/article-pdf/31/24/4295/47999969/ddy230.pdf

المؤلفون: Cerezo, Maria, Buniello, Annalisa, Abid, Ala, Hall, Peggy, Hayhurst, James, Ibrahim, Arwa, John, Sajo, Lewis, Elizabeth, McMahon, Aoife, Mosaku, Abayomi, Ramachandran, Santhi, Sollis, Elliot, Cunningham, Fiona, Flicek, Paul, Hindorff, Lucia, Harris, Laura, Parkinson, Helen

المصدر: Cancer Genetics ; volume 268-269, page 21 ; ISSN 2210-7762

الاتاحة: http://dx.doi.org/10.1016/j.cancergen.2022.10.067
https://api.elsevier.com/content/article/PII:S2210776222001946?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2210776222001946?httpAccept=text/plain

المؤلفون: Sollis, Elliot, Graham, Sarah A., Vino, Arianna, Froehlich, Henning, Vreeburg, Maaike, Dimitropoulou, Danai, Gilissen, Christian, Pfundt, Rolph, Rappold, Gudrun A., Brunner, Han G., Deriziotis, Pelagia, Fisher, Simon E.

المصدر: Sollis , E , Graham , S A , Vino , A , Froehlich , H , Vreeburg , M , Dimitropoulou , D , Gilissen , C , Pfundt , R , Rappold , G A , Brunner , H G , Deriziotis , P & Fisher , S E 2016 , ' Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder ' , Human Molecular Genetics , vol. 25 , no. 3 , pp. 546-557 . https://doi.org/10.1093/hmg/ddv495

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/cc9fd156-8bc2-4f4e-b514-f95138041237
https://doi.org/10.1093/hmg/ddv495

المؤلفون: Sollis, Elliot, Hoed, Joery den, Quevedo, Marti, Estruch, Sara B, Vino, Arianna, Dekkers, Dick H W, Demmers, Jeroen A A, Poot, Raymond, Deriziotis, Pelagia, Fisher, Simon E

المصدر: Human Molecular Genetics; May2023, Vol. 32 Issue 9, p1497-1510, 14p

المؤلفون: Sollis, Elliot, Mosaku, Abayomi, Abid, Ala, Buniello, Annalisa, Cerezo, Maria, Gil, Laurent, Groza, Tudor, Güneş, Osman, Hall, Peggy, Hayhurst, James, Ibrahim, Arwa, Ji, Yue, John, Sajo, Lewis, Elizabeth, MacArthur, Jacqueline A L, McMahon, Aoife, Osumi-Sutherland, David, Panoutsopoulou, Kalliope, Pendlington, Zoë, Ramachandran, Santhi

المصدر: Nucleic Acids Research; 1/6/2023, Vol. 51 Issue D1, pD977-D985, 9p

المؤلفون: Ravenscroft, Gianina, Sollis, Elliot, Charles, Adrian K, North, Kathryn N, Baynam, Gareth, Laing, Nigel G

مصطلحات موضوعية: Review

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/48/12/793; http://dx.doi.org/10.1136/jmedgenet-2011-100211

الاتاحة: http://jmg.bmj.com/cgi/content/short/48/12/793
https://doi.org/10.1136/jmedgenet-2011-100211

المؤلفون: Buniello, Annalisa, MacArthur, Jacqueline A L, Cerezo, Maria, Harris, Laura W, Hayhurst, James, Malangone, Cinzia, McMahon, Aoife, Morales, Joannella, Mountjoy, Edward, Sollis, Elliot, Suveges, Daniel, Vrousgou, Olga, Whetzel, Patricia L, Amode, Ridwan, Guillen, Jose A, Riat, Harpreet S, Trevanion, Stephen J, Hall, Peggy, Junkins, Heather, Flicek, Paul, Burdett, Tony, Hindorff, Lucia A, Cunningham, Fiona, Parkinson, Helen

مصطلحات موضوعية: Database Issue, info, stat

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323933/

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323933/

المؤلفون: Estruch, S.B., Graham, S.A., Quevedo, Marti, Vino, A., Dekkers, Dick H. W., Deriziotis, P., Sollis, Elliot, Poot, R.A., Fisher, Simon E.

المصدر: Human Molecular Genetics; 1212; 1227; 0964-6906; 7; 27; ~Human Molecular Genetics~1212~1227~~~0964-6906~7~27~~

URL: http://hdl.handle.net/2066/198204

المؤلفون: Sollis, Elliot, Deriziotis, Pelagia, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi, Hoffer, Mariëtte J.V., Ruivenkamp, Claudia A.L., Alders, Mariëlle, Okamoto, Nobuhiko, Bijlsma, Emilia K., Plomp, Astrid S., Fisher, Simon E.

المصدر: Human Mutation; Nov2017, Vol. 38 Issue 11, p1542-1554, 13p