المؤلفون: Oliver, Thomas R. W.^{Aff1, Aff2}, Chappell, Lia, Sanghvi, Rashesh, Deighton, Lauren, Ansari-Pour, Naser^{Aff3, Aff4}, Dentro, Stefan C.^{Aff1, Aff5}, Young, Matthew D., Coorens, Tim H. H., Jung, Hyunchul, Butler, Tim, Neville, Matthew D. C., Leongamornlert, Daniel, Sanders, Mathijs A.^{Aff1, Aff6}, Hooks, Yvette, Cagan, Alex, Mitchell, Thomas J.^{Aff1, Aff2}, Cortes-Ciriano, Isidro, Warren, Anne Y., Wedge, David C.^{Aff3, Aff7}, Heer, Rakesh^{Aff8, Aff9}, Coleman, Nicholas^{Aff2, Aff10}, Murray, Matthew J.^{Aff2, Aff10}, Campbell, Peter J., Rahbari, Raheleh^{Aff1, IDs41467022313754_cor24}, Behjati, Sam^{Aff1, Aff2, Aff11, IDs41467022313754_cor25}

المصدر: Nature Communications. 13(1)

المؤلفون: Gardner, Eugene J.^{Aff1, Aff6}, Neville, Matthew D. C., Samocha, Kaitlin E., Barclay, Kieron^{Aff2, Aff3, Aff4}, Kolk, Martin, Niemi, Mari E. K., Kirov, George, Martin, Hilary C., Hurles, Matthew E.^{Aff1, IDs41586022045499_cor9}

المصدر: Nature: International weekly journal of science. 603(7903):858-863

المؤلفون: Coorens, Tim H. H., Moore, Luiza^{Aff1, Aff2}, Robinson, Philip S.^{Aff1, Aff3}, Sanghvi, Rashesh, Christopher, Joseph^{Aff1, Aff3, Aff4}, Hewinson, James, Przybilla, Moritz J., Lawson, Andrew R. J., Spencer Chapman, Michael^{Aff1, Aff5, Aff6}, Cagan, Alex, Oliver, Thomas R. W.^{Aff1, Aff4}, Neville, Matthew D. C., Hooks, Yvette, Noorani, Ayesha, Mitchell, Thomas J.^{Aff1, Aff4, Aff7}, Fitzgerald, Rebecca C., Campbell, Peter J., Martincorena, Iñigo, Rahbari, Raheleh, Stratton, Michael R.^{Aff1, IDs4158602103790y_cor20}

المصدر: Nature: International weekly journal of science. 597(7876):387-392

المؤلفون: Moore, Luiza^{Aff1, Aff2}, Cagan, Alex, Coorens, Tim H. H., Neville, Matthew D. C., Sanghvi, Rashesh, Sanders, Mathijs A.^{Aff1, Aff3}, Oliver, Thomas R. W.^{Aff1, Aff2}, Leongamornlert, Daniel, Ellis, Peter^{Aff1, Aff12}, Noorani, Ayesha, Mitchell, Thomas J.^{Aff1, Aff4}, Butler, Timothy M., Hooks, Yvette, Warren, Anne Y., Jorgensen, Mette, Dawson, Kevin J., Menzies, Andrew, O’Neill, Laura, Latimer, Calli, Teng, Mabel, van Boxtel, Ruben, Iacobuzio-Donahue, Christine A.^{Aff7, Aff8}, Martincorena, Inigo, Heer, Rakesh^{Aff9, Aff10}, Campbell, Peter J., Fitzgerald, Rebecca C., Stratton, Michael R.^Aff1, Rahbari, Raheleh^Aff1

المصدر: Nature: International weekly journal of science. 597(7876):381-386

المؤلفون: Neville, Matthew D. C.^Aff1, Choi, Jihoon^Aff1, Lieberman, Jonathan^Aff1, Duan, Qing Ling^{Aff1, Aff2}

المصدر: RESPIRATORY RESEARCH. 19(1)

المؤلفون: Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Kumar, V.K.Ajith, Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana

المساهمون: Martin, Hilary C. [0000-0002-4454-9084], Gardner, Eugene J. [0000-0001-9671-1533], Samocha, Kaitlin E. [0000-0002-1704-3352], Eberhardt, Ruth Y. [0000-0001-6152-1369], Tavares, Ana Lisa Taylor [0000-0001-7089-0502], Neville, Matthew D. C. [0000-0001-5816-7936], Niemi, Mari E. K. [0000-0003-0696-6175], Wright, Caroline F. [0000-0003-2958-5076], Hurles, Matthew E. [0000-0002-2333-7015], Apollo - University of Cambridge Repository

مصطلحات موضوعية: 631/208/366, 49/23, article, 631/208/1516, 631/208/205

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfeb11bdc3048d72d0ca00dd9a5d5c49

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المؤلفون: Thomas R. W. Oliver, Lia Chappell, Rashesh Sanghvi, Lauren Deighton, Naser Ansari-Pour, Stefan C. Dentro, Matthew D. Young, Tim H. H. Coorens, Hyunchul Jung, Tim Butler, Matthew D. C. Neville, Daniel Leongamornlert, Mathijs A. Sanders, Yvette Hooks, Alex Cagan, Thomas J. Mitchell, Isidro Cortes-Ciriano, Anne Y. Warren, David C. Wedge, Rakesh Heer, Nicholas Coleman, Matthew J. Murray, Peter J. Campbell, Raheleh Rahbari, Sam Behjati

المساهمون: Hematology, Oliver, Thomas RW [0000-0003-4306-0102], Chappell, Lia [0000-0002-2317-3524], Sanghvi, Rashesh [0000-0002-7703-9216], Ansari-Pour, Naser [0000-0003-0908-0484], Young, Matthew D [0000-0003-0937-5290], Coorens, Tim HH [0000-0002-5826-3554], Butler, Tim [0000-0001-5803-1035], Neville, Matthew DC [0000-0001-5816-7936], Leongamornlert, Daniel [0000-0002-3486-3168], Cagan, Alex [0000-0002-7857-4771], Mitchell, Thomas J [0000-0003-0761-9503], Cortes-Ciriano, Isidro [0000-0002-2036-494X], Wedge, David C [0000-0002-7572-3196], Murray, Matthew J [0000-0002-4480-1147], Campbell, Peter J [0000-0002-3921-0510], Rahbari, Raheleh [0000-0002-1839-7785], Behjati, Sam [0000-0002-6600-7665], Apollo - University of Cambridge Repository, Oliver, Thomas R. W. [0000-0003-4306-0102], Young, Matthew D. [0000-0003-0937-5290], Coorens, Tim H. H. [0000-0002-5826-3554], Neville, Matthew D. C. [0000-0001-5816-7936], Mitchell, Thomas J. [0000-0003-0761-9503], Wedge, David C. [0000-0002-7572-3196], Murray, Matthew J. [0000-0002-4480-1147], Campbell, Peter J. [0000-0002-3921-0510]

المصدر: Nature Communications, 13(1):4272. Nature Publishing Group

مصطلحات موضوعية: 631/114/739, 45/91, Male, 45/70, Multidisciplinary, 631/1647/514, article, General Physics and Astronomy, 45/23, 631/67/69, Genomics, General Chemistry, Neoplasms, Germ Cell and Embryonal, 631/67/1679, 631/67/2329, General Biochemistry, Genetics and Molecular Biology, Testicular Neoplasms, 13/51, 14/63, Humans, Child, Transcriptome

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc5ca9355b99c71260b08f7b4f8b9b0c
https://doi.org/10.1038/s41467-022-31375-4

المؤلفون: Martin HC; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. hcm@sanger.ac.uk., Gardner EJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Samocha KE; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Kaplanis J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Akawi N; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Sifrim A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Department of Human Genetics, University of Leuven, Leuven, Belgium., Eberhardt RY; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Tavares ALT; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Genomics England, Queen Mary University of London, London, EC1M 6BQ, UK., Neville MDC; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Niemi MEK; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Institute for Molecular Medicine Finland, University of Helsinki, Tukholmankatu 8, Helsinki, FI-00014, Finland., Gallone G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Max Planck Institute for Molecular Genetics, Ihnestraße 63, 14195, Berlin, Germany., McRae J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Illumina Inc., 5200 Illumina Way, San Diego, CA, 92122, USA., Wright CF; Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK., FitzPatrick DR; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK., Firth HV; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.

مؤلفون مشاركون: Deciphering Developmental Disorders Study

المصدر: Nature communications [Nat Commun] 2021 Jan 27; Vol. 12 (1), pp. 627. Date of Electronic Publication: 2021 Jan 27.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genes, X-Linked* , Genetic Variation*, Developmental Disabilities/*genetics , Genetic Diseases, X-Linked/*genetics, Chromosomes, Human, X/genetics ; Female ; Genes, Recessive ; Humans ; Inheritance Patterns/genetics ; Male ; Multifactorial Inheritance/genetics ; Mutation/genetics ; Phenotype ; Sex Characteristics