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	1.	Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer". [electronic resource] by Turnbull, Clare Loveday, Chey Izatt, Louise Ellard, Sian Producer: 20190506 In: The Journal of clinical endocrinology and metabolism vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer. [electronic resource] by Loveday, Chey Josephs, Katherine Chubb, Daniel Gunning, Adam Izatt, Louise Tischkowitz, Marc Ellard, Sian Turnbull, Clare Producer: 20190910 In: The Journal of clinical endocrinology and metabolism vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene. [electronic resource] by Litchfield, Kevin Loveday, Chey Levy, Max Dudakia, Darshna Rapley, Elizabeth Nsengimana, Jeremie Bishop, D Tim Reid, Alison Huddart, Robert Broderick, Peter Houlston, Richard S Turnbull, Clare Producer: 20190314 In: European urology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. [electronic resource] by Loveday, Chey Tatton-Brown, Katrina Clarke, Matthew Westwood, Isaac Renwick, Anthony Ramsay, Emma Nemeth, Andrea Campbell, Jennifer Joss, Shelagh Gardner, McKinlay Zachariou, Anna Elliott, Anna Ruark, Elise van Montfort, Rob Rahman, Nazneen Producer: 20160511 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. [electronic resource] by Loveday, Chey Tatton-Brown, Katrina Clarke, Matthew Westwood, Isaac Renwick, Anthony Ramsay, Emma Nemeth, Andrea Campbell, Jennifer Joss, Shelagh Gardner, McKinlay Zachariou, Anna Elliott, Anna Ruark, Elise Montfort, Rob van Rahman, Nazneen Publication details: Human molecular genetics 05 2019 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Germline RAD51C mutations confer susceptibility to ovarian cancer. [electronic resource] by Loveday, Chey Turnbull, Clare Ruark, Elise Xicola, Rosa Maria Munoz Ramsay, Emma Hughes, Deborah Warren-Perry, Margaret Snape, Katie Eccles, Diana Evans, D Gareth Gore, Martin Renwick, Anthony Seal, Sheila Antoniou, Antonis C Rahman, Nazneen Producer: 20120702 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. [electronic resource] by Tatton-Brown, Katrina Loveday, Chey Yost, Shawn Clarke, Matthew Ramsay, Emma Zachariou, Anna Elliott, Anna Wylie, Harriet Ardissone, Anna Rittinger, Olaf Stewart, Fiona Temple, I Karen Cole, Trevor Mahamdallie, Shazia Seal, Sheila Ruark, Elise Rahman, Nazneen Producer: 20170727 In: American journal of human genetics vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients. [electronic resource] by Ostrowski, Philip J Zachariou, Anna Loveday, Chey Baralle, Diana Blair, Edward Douzgou, Sofia Field, Michael Foster, Alison Kyle, Claire Lachlan, Katherine Mansour, Sahar Naik, Swati Rea, Gillian Smithson, Sarah Sznajer, Yves Thompson, Elizabeth Cole, Trevor Tatton-Brown, Katrina Producer: 20200505 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 181 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome. [electronic resource] by Griffiths, Sara Loveday, Chey Zachariou, Anna Behan, Lucy-Ann Chandler, Kate Cole, Trevor D'Arrigo, Stefano Dieckmann, Andrea Foster, Alison Gibney, James Hunter, Matthew Milani, Donatella Pantaleoni, Chiara Roche, Edna Sherlock, Mark Springer, Amanda White, Susan M Tatton-Brown, Katrina Producer: 20200422 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer. [electronic resource] by Loveday, Chey Litchfield, Kevin Levy, Max Holroyd, Amy Broderick, Peter Kote-Jarai, Zsofia Dunning, Alison M Muir, Kenneth Peto, Julian Eeles, Rosalind Easton, Douglas F Dudakia, Darshna Orr, Nick Pashayan, Nora Reid, Alison Huddart, Robert A Houlston, Richard S Turnbull, Clare Publication details: Oncotarget Feb 2018 In: Oncotarget vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology. [electronic resource] by Loveday, Chey Law, Philip Litchfield, Kevin Levy, Max Holroyd, Amy Broderick, Peter Kote-Jarai, Zsofia Dunning, Alison M Muir, Kenneth Peto, Julian Eeles, Rosalind Easton, Douglas F Dudakia, Darshna Orr, Nick Pashayan, Nora Reid, Alison Huddart, Robert A Houlston, Richard S Turnbull, Clare Producer: 20190520 In: European urology vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. [electronic resource] by Tatton-Brown, Katrina Hanks, Sandra Ruark, Elise Zachariou, Anna Del Vecchio Duarte, Silvana Ramsay, Emma Snape, Katie Murray, Anne Perdeaux, Elizabeth R Seal, Sheila Loveday, Chey Banka, Siddharth Clericuzio, Carol Flinter, Frances Magee, Alex McConnell, Vivienne Patton, Michael Raith, Wolfgang Rankin, Julia Splitt, Miranda Strenger, Volker Taylor, Clare Wheeler, Patricia Temple, I Karen Cole, Trevor Douglas, Jenny Rahman, Nazneen Publication details: Oncotarget 11 2018 In: Oncotarget vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Genomic landscape of platinum resistant and sensitive testicular cancers. [electronic resource] by Loveday, Chey Litchfield, Kevin Proszek, Paula Z Cornish, Alex J Santo, Flavia Levy, Max Macintyre, Geoff Holryod, Amy Broderick, Peter Dudakia, Darshna Benton, Barbara Bakir, Maise Al Hiley, Crispin Grist, Emily Swanton, Charles Huddart, Robert Powles, Tom Chowdhury, Simon Shipley, Janet O'Connor, Simon Brenton, James D Reid, Alison de Castro, David Gonzalez Houlston, Richard S Turnbull, Clare Producer: 20200803 In: Nature communications vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. [electronic resource] by Tatton-Brown, Katrina Hanks, Sandra Ruark, Elise Zachariou, Anna Duarte, Silvana Del Vecchio Ramsay, Emma Snape, Katie Murray, Anne Perdeaux, Elizabeth R Seal, Sheila Loveday, Chey Banka, Siddharth Clericuzio, Carol Flinter, Frances Magee, Alex McConnell, Vivienne Patton, Michael Raith, Wolfgang Rankin, Julia Splitt, Miranda Strenger, Volker Taylor, Clare Wheeler, Patricia Temple, Karen I Cole, Trevor Douglas, Jenny Rahman, Nazneen Producer: 20120629 In: Oncotarget vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Stratification of Wilms tumor by genetic and epigenetic analysis. [electronic resource] by Scott, Richard H Murray, Anne Baskcomb, Linda Turnbull, Clare Loveday, Chey Al-Saadi, Reem Williams, Richard Breatnach, Fin Gerrard, Mary Hale, Juliet Kohler, Janice Lapunzina, Pablo Levitt, Gill A Picton, Sue Pizer, Barry Ronghe, Milind D Traunecker, Heidi Williams, Denise Kelsey, Anna Vujanic, Gordan M Sebire, Neil J Grundy, Paul Stiller, Charles A Pritchard-Jones, Kathy Douglas, Jenny Rahman, Nazneen Producer: 20120905 In: Oncotarget vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	The phenotype of Sotos syndrome in adulthood: A review of 44 individuals. [electronic resource] by Foster, Alison Zachariou, Anna Loveday, Chey Ashraf, Tazeen Blair, Edward Clayton-Smith, Jill Dorkins, Huw Fryer, Alan Gener, Blanca Goudie, David Henderson, Alex Irving, Melita Joss, Shelagh Keeley, Vaughan Lahiri, Nayana Lynch, Sally Ann Mansour, Sahar McCann, Emma Morton, Jenny Motton, Nicole Murray, Alexandra Riches, Katie Shears, Deborah Stark, Zornitza Thompson, Elizabeth Vogt, Julie Wright, Michael Cole, Trevor Tatton-Brown, Katrina Producer: 20200505 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 181 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. [electronic resource] by Litchfield, Kevin Levy, Max Orlando, Giulia Loveday, Chey Law, Philip J Migliorini, Gabriele Holroyd, Amy Broderick, Peter Karlsson, Robert Haugen, Trine B Kristiansen, Wenche Nsengimana, Jérémie Fenwick, Kerry Assiotis, Ioannis Kote-Jarai, ZSofia Dunning, Alison M Muir, Kenneth Peto, Julian Eeles, Rosalind Easton, Douglas F Dudakia, Darshna Orr, Nick Pashayan, Nora Bishop, D Timothy Reid, Alison Huddart, Robert A Shipley, Janet Grotmol, Tom Wiklund, Fredrik Houlston, Richard S Turnbull, Clare Producer: 20171004 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. [electronic resource] by Burkardt, Deepika D'Cunha Zachariou, Anna Loveday, Chey Allen, Clare L Amor, David J Ardissone, Anna Banka, Siddharth Bourgois, Alexia Coubes, Christine Cytrynbaum, Cheryl Faivre, Laurence Marion, Gerard Horton, Rachel Kotzot, Dieter Lay-Son, Guillermo Lees, Melissa Low, Karen Luk, Ho-Ming Mark, Paul McConkie-Rosell, Allyn McDonald, Marie Pappas, John Phillipe, Christophe Shears, Deborah Skotko, Brian Stewart, Fiona Stewart, Helen Temple, I Karen Mau-Them, Frederic T Verdugo, Ricardo A Weksberg, Rosanna Zarate, Yuri A Graham, John M Tatton-Brown, Katrina Producer: 20200803 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Disease evolution and outcomes in familial AML with germline CEBPA mutations. [electronic resource] by Tawana, Kiran Wang, Jun Renneville, Aline Bödör, Csaba Hills, Robert Loveday, Chey Savic, Aleksandar Van Delft, Frederik W Treleaven, Jennifer Georgiades, Panayiotis Uglow, Elizabeth Asou, Norio Uike, Naokuni Debeljak, Maruša Jazbec, Janez Ancliff, Philip Gale, Rosemary Thomas, Xavier Mialou, Valerie Döhner, Konstanze Bullinger, Lars Mueller, Beatrice Pabst, Thomas Stelljes, Matthias Schlegelberger, Brigitte Wozniak, Eva Iqbal, Sameena Okosun, Jessica Araf, Shamzah Frank, Anne-Katrine Lauridsen, Felicia B Porse, Bo Nerlov, Claus Owen, Carolyn Dokal, Inderjeet Gribben, John Smith, Matthew Preudhomme, Claude Chelala, Claude Cavenagh, Jamie Fitzgibbon, Jude Producer: 20160428 In: Blood vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients. [electronic resource] by Ostrowski, Philip J Zachariou, Anna Loveday, Chey Beleza-Meireles, Ana Bertoli, Marta Dean, John Douglas, Andrew G L Ellis, Ian Foster, Alison Graham, John M Hague, Jennifer Hilhorst-Hofstee, Yvonne Hoffer, Mariette Johnson, Diana Josifova, Dragana Kant, Sarina G Kini, Usha Lachlan, Katherine Lam, Wayne Lees, Melissa Lynch, Sally Maitz, Silvia McKee, Shane Metcalfe, Kay Nathanson, Katherine Ockeloen, Charlotte W Parker, Michael J Pierson, Tyler M Rahikkala, Elisa Sanchez-Lara, Pedro A Spano, Alice Van Maldergem, Lionel Cole, Trevor Douzgou, Sofia Tatton-Brown, Katrina Producer: 20200505 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 181 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 25 results.