Resultats de la cerca - Alan Donaldson

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  1. 1
    Germline Mutations in the<i>CDKN2B</i>Tumor Suppressor Gene Predispose to Renal Cell Carcinoma

    Germline Mutations in the<i>CDKN2B</i>Tumor Suppressor Gene Predispose to Renal Cell Carcinoma per Mariam Jafri, N. Wake, David B. Ascher, Douglas E. V. Pires, Dean Gentle, Mark R. Morris, Eleanor Rattenberry, Michael A. Simpson, Richard C. Trembath, Astrid Weber, Emma R. Woodward, Alan Donaldson, Tom L. Blundell, Farida Latif, Eamonn R. Maher

    Publicat 2015
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  2. 2
    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases per Francesca Novara, Berardo Rinaldi, Sanjay M. Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny M.A. van Ravenswaaij‐Arts, Wilhelmina S. Kerstjens‐Frederikse, Joris Vermeesch, Koenraad Devriendt, Carlos A. Bacino, Andrée Delahaye‐Duriez, Saskia M. Maas, Achille Iolascon, Orsetta Zuffardi

    Publicat 2017
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  3. 3
    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases per Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, Suresh Somarathi, Jamie Cruden, Anita Devlin, Alan Donaldson, Nataliya Di Donato, David Fitzpatrick, Frank J. Kaiser, Anne Katrin Lampe, Melissa Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter D. Turnpenny, William Whitehouse, Sameer M. Zuberi

    Publicat 2017
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  4. 4
    Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome

    Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome per Wendy Lim, Nicholas Hearle, Bindiya Shah, Victoria Murday, S V Hodgson, Anneke Lucassen, Diana Eccles, I C Talbot, Kay Neale, Aaron G. Lim, J. O’Donohue, Alan Donaldson, R. C. Macdonald, I.D. Young, Martin Robinson, P W R Lee, B J Stoodley, Ian Tomlinson, Derek Alderson, A G Holbrook, Shraddha Vyas, E T Swarbrick, A A M Lewis, R K S Phillips, Richard S. Houlston

    Publicat 2003
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  5. 5
    Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

    Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma a... per Mariam Jafri, James W. Whitworth, Eleanor Rattenberry, Lindsey Vialard, Gail Kilby, Ajith Kumar, Louise Izatt, Fiona Lalloo, Paul Brennan, Jackie Cook, Patrick J. Morrison, Natalie Canham, Ruth Armstrong, Carole Brewer, Susan Tomkins, Alan Donaldson, Julian Barwell, Trevor Cole, A. Brew Atkinson, Simon Aylwin, Steve Ball, Umasuthan Srirangalingam, Shern L. Chew, D. Gareth Evans, Shirley V. Hodgson, Richard Irving, Emma R. Woodward, Fiona MacDonald, Eamonn R. Maher

    Publicat 2012
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  6. 6
    Clinical and genetic aspects of KBG syndrome

    Clinical and genetic aspects of KBG syndrome per Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton‐Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Katherine Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury‐Ecob, Fiona Stewart, Peter D. Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, Sarah Smithson

    Publicat 2016
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  7. 7
    Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study

    Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study per Tommy Nyberg, Debra Frost, Daniel Barrowdale, D. Gareth Evans, Elizabeth Bancroft, Julian Adlard, Munaza Ahmed, Julian Barwell, Angela F. Brady, Carole Brewer, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Jacqueline Eason, Helen Gregory, Alex Henderson, Louise Izatt, Michael J. Kennedy, Claire Miller, Patrick J. Morrison, Alex Murray, Kai‐Ren Ong, Mary Porteous, Caroline Pottinger, Mark T. Rogers, Lucy Side, Katie Snape, Lisa Walker, Marc Tischkowitz, Rosalind A. Eeles, Douglas F. Easton, Antonis C. Antoniou

    Publicat 2019
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  8. 8
    Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: Results from EMBRACE

    Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: Results from EMBR... per Nasim Mavaddat, Debra Frost, Emily Zhao, Daniel R. Barnes, Munaza Ahmed, Julian Barwell, Angela F. Brady, Paul Brennan, Hector Conti, Jackie Cook, Harriet Copeland, Rosemarie Davidson, Alan Donaldson, Emma Douglas, David Gallagher, Rachel Hart, Louise Izatt, Zoe Kemp, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Jennie Murray, Alex Murray, Hannah Musgrave, Claire Searle, Lucy Side, Katie Snape, Vishakha Tripathi, Lisa Walker, Stephanie Archer, D. Gareth Evans, Marc Tischkowitz, Antonis C Antoniou, Douglas F. Easton

    Publicat 2025
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  9. 9
    Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

    Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE per Nasim Mavaddat, Susan Peock, Debra Frost, Ian O. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Louise Izatt, Rosalind A. Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Carole Brewer, Marc Tischkowitz, Fiona Douglas, Shirley Hodgson, Lisa Walker, Mary Porteous, Patrick J. Morrison, Lucy Side, Michael J. Kennedy, Catherine Houghton, Alan Donaldson, Mark T. Rogers, Huw Dorkins, Zosia Miedzybrodzka, Helen Gregory, Jacqueline Eason, Julian Barwell, Emma McCann, Alex Murray, Antonis C. Antoniou, Douglas F. Easton

    Publicat 2013
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  10. 10
    Germline <i>BRCA</i> Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer

    Germline <i>BRCA</i> Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer per Elena Castro, Chee Goh, David Olmos, Edward J. Saunders, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Nadiya Mahmud, Tokhir Dadaev, Koveela Govindasami, Michelle Guy, Emma Sawyer, Rosemary Wilkinson, Audrey Ardern‐Jones, Ian O. Ellis, Debra Frost, Susan Peock, D. Gareth Evans, Marc Tischkowitz, Trevor Cole, Rosemarie Davidson, Diana Eccles, Carole Brewer, Fiona Douglas, Mary Porteous, Alan Donaldson, Huw Dorkins, Louise Izatt, Jackie Cook, Shirley Hodgson, Michael J. Kennedy, Lucy Side, Jacqueline Eason, Alex Murray, Antonis C. Antoniou, Douglas F. Easton, Zsofia Kote‐Jarai, Rosalind A. Eeles

    Publicat 2013
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  11. 11
    The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine

    The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine per Hayley C. Whitaker, Zsofia Kote‐Jarai, Helen Ross‐Adams, Anne Y. Warren, Johanna Burge, Anne George, Elizabeth Bancroft, Sameer Jhavar, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Edward J. Saunders, Elizabeth Page, Anita Mitra, Gillian Mitchell, Geoffrey J. Lindeman, D. Gareth Evans, Ignacio Blanco, Catherine Mercer, Wendy S. Rubinstein, Virginia Clowes, Fiona Douglas, Shirley Hodgson, Lisa Walker, Alan Donaldson, Louise Izatt, Huw Dorkins, Alison Male, Kathy Tucker, Alan M. F. Stapleton, Jimmy Lam, Judy Kirk, Hans Lilja, Douglas F. Easton, Colin Cooper, Rosalind A. Eeles, David E. Neal

    Publicat 2010
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  12. 12
    Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>

    Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i> per Katrina Andrews, David B. Ascher, Douglas E. V. Pires, Daniel R. Barnes, Lindsey Vialard, Ruth Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V. Hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne McConnell, Patrick J. Morrison, Victoria Murday, Soo‐Mi Park, Helen Simpson, Katie Snape, Susan E. Stewart, Susan Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S. Lindsay, Colin Perry, Emma R. Woodward, Antonis C. Antoniou, Eamonn R. Maher

    Publicat 2018
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  13. 13
    Germline mutations in RAD51D confer susceptibility to ovarian cancer

    Germline mutations in RAD51D confer susceptibility to ovarian cancer per Chey Loveday, Clare Turnbull, Emma Ramsay, Deborah Hughes, Elise Ruark, Jessica Frankum, Georgina R. Bowden, Bolot Kalmyrzaev, Margaret Warren-Perry, Katie Snape, Julian Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Diana Eccles, D. Gareth Evans, Anthony Renwick, Sheila Seal, Christopher J. Lord, Alan Ashworth, Jorge S. Reis‐Filho, Antonis C. Antoniou, Nazneen Rahman

    Publicat 2011
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  14. 14
    Modification of <i>BRCA1</i>-Associated Breast and Ovarian Cancer Risk by <i>BRCA1</i>-Interacting Genes

    Modification of <i>BRCA1</i>-Associated Breast and Ovarian Cancer Risk by <i>BRCA1</i>-Interacting Genes per Timothy R. Rebbeck, Nandita Mitra, Susan M. Domchek, Fei Wan, Tara M. Friebel, Teo Tran, Christian F. Singer, Muy‐Kheng M. Tea, Joanne L. Blum, Nadine Tung, Olufunmilayo I. Olopade, Jeffrey N. Weitzel, Henry T. Lynch, Carrie Snyder, Judy E. Garber, Antonis C. Antoniou, Susan Peock, D. Gareth Evans, Joan Paterson, Maura Kennedy, Alan Donaldson, Huw Dorkins, Douglas F. Easton, Wendy S. Rubinstein, Mary B. Daly, Claudine Isaacs, Heli Nevanlinna, Fergus J. Couch, Irene L. Andrulis, Eitan Freidman, Yael Laitman, Patricia A. Ganz, Gail E. Tomlinson, Susan L. Neuhausen, Steven A. Narod, Catherine M. Phelan, Roger A. Greenberg, Katherine L. Nathanson

    Publicat 2011
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  15. 15
    Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

    Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer per Elise Ruark, Katie Snape, Peter Humburg, Chey Loveday, Ilirjana Bajrami, Rachel Brough, Daniel Nava Rodrigues, Anthony Renwick, Sheila Seal, Emma Ramsay, Silvana Del Vecchio Duarte, Manuel A. Rivas, Margaret Warren-Perry, Anna Zachariou, Adriana Campion‐Flora, Sandra Hanks, Anne R. Murray, Naser Ansari‐Pour, Jenny Douglas, Lorna Gregory, Andrew J. Rimmer, Neil Walker, Tsun-Po Yang, Julian Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Diana Eccles, D. Gareth Evans, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Martin Gore, Richard S. Houlston, Matthew A. Brown, Mark J. Caufield, Panos Deloukas, Mark I. McCarthy, John A. Todd, Clare Turnbull, Jorge S. Reis‐Filho, Alan Ashworth, Antonis C. Antoniou, Christopher J. Lord, Peter Donnelly, Nazneen Rahman

    Publicat 2012
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  16. 16
    Targeted prostate cancer screening in men with mutations in <i>BRCA1</i> and <i>BRCA2</i> detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

    Targeted prostate cancer screening in men with mutations in <i>BRCA1</i> and <i>BRCA2</i> detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT stud... per Anita Mitra, Elizabeth Bancroft, Yolanda Barbáchano, Elizabeth Page, Christopher S. Foster, Charles Jameson, Gillian Mitchell, Geoffrey J. Lindeman, Andrew J. Stapleton, Graeme Suthers, D. Gareth Evans, D. G. Crüger, Ignacio Blanco, Catherine Mercer, Judy Kirk, Lovise Mæhle, Shirley Hodgson, Lyndon Walker, Louise Izatt, Gillian Douglas, Katherine Tucker, Huw Dorkins, Virginia Clowes, Alison Male, Alan Donaldson, C Brewer, Rebecca Doherty, Barbara Bulman, Palle Jørn Sloth Osther, Mónica Salinas, Diana Eccles, Karol Axcrona, Irene Jobson, Barbara Newcombe, Cezary Cybulski, Wendy S. Rubinstein, Saundra S. Buys, Sharron Townshend, Eitan Friedman, Susan M. Domchek, Teresa Ramón y Cajal, Allan D. Spigelman, Soo‐Hwang Teo, Nicola Nicolai, Neil K. Aaronson, Audrey Ardern‐Jones, Chris Bangma, David Dearnaley, Jórunn E. Eyfjörd, Alison Falconer, Henrik Grönberg, Freddie C. Hamdy, Óskar Þór Jóhannsson, Vincent Khoo, Zsofia Kote‐Jarai, Hans Lilja, Jan Lubiński, J Melia, Clare Moynihan, S. Peock, Gad Rennert, Fritz H. Schröder, Paul Sibley, Mohnish Suri, Penny Wilson, Y. J. Bignon, Sara S. Strom, Marc Tischkowitz, Annelie Liljegren, Denisa Ilenčíková, A. Abele, Kyriacos Kyriacou, Christi J. van Asperen, Lambertus A. Kiemeney, Douglas F. Easton, Rosalind A. Eeles

    Publicat 2010
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  17. 17
    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study

    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study per Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian O. Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali

    Publicat 2016
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  18. 18
    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome per Lynette G. Sadleir, Emily Mountier, Deepak Gill, Suzanne L. Davis, Charuta Joshi, Catherine DeVile, Manju A. Kurian, Simone Mandelstam, Elaine Wirrell, Katherine Nickels, Hema Murali, Gemma L. Carvill, Candace T. Myers, Heather C. Mefford, Ingrid E. Scheffer, A. Paul Bevan, Abhijit Dixit, Abigail Pridham, Adrian R. Tivey, Ajoy Sarkar, Alan Donaldson, Alan Fryer, Alejandro Sifrim, Alex Henderson, Alex Magee, Alexis E. Duncan, Alison Kraus, Alison Male, Alison Ross, Amanda Collins, Anand Saggar, Andrea Coates, Andrea H. Németh, Andrew E. Fry, Andrew Green, A. Jackson, Andrew Norman, Angela Barnicoat, Angela Brady, Angela Douglas, Angus Clarke, Angus Dobbie, Ann Selby, Anna Middleton, Anne Lampe, A Seller, Annie Procter, Karenza Evans, Anthony Vandersteen, Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba, Becky Treacy, Beiyuan Fu, Ben Hutton, Birgitta Bernhard, Bronwyn Kerr, Bruce Castle, Carina Donnelly, Carol Gardiner, Clare L. Scott, Carole Brewer, Caroline F. Wright, Caroline Langman, Caroline Mackie Ogilvie, Caroline Pottinger, Carolyn Tysoe, Cat Taylor, Catherine McWilliam, Charles Shaw‐Smith, Charu Deshpande, Cheryl Longman, Cheryl Sequeira, Chirag Patel, Chris Bennett, Chris Nellåker, Christopher Wragg, Claire Kirk, Claire Turner, Daniel A. King, Daniel M. Barrett, Daniel Perrett, Daniela T. Pilz, Danielle Walker, David Baty, David Bohanna, David Bourn, David Goudie, David J. Bunyan, David Jones, David Moore, David Fitzpatrick, David Fitzpatrick, Debbie Rice, Debbie Shears, Deirdre Cilliers, Deirdre Donnelly, Denise Williams, Derek Lim

    Publicat 2017
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  19. 19
    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Evidence for 28 genetic disorders discovered by combining healthcare and research data per Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer

    Publicat 2020
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  20. 20
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders per Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw‐Smith, Claire Turner, Peter D. Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson

    Publicat 2021
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