Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals
Radley, Jessica A., Connolly, Melissa, Sabir, Ataf, Kanani, Farah, Carley, Helena, Jones, Rachel L., Hyder, Zerin, Gompertz, Lianne, Reardon, Willie, Richardson, Ruth, McClelland, Louise, Maher, Eamonn R.
Published in Clinical genetics (01.09.2021)
Published in Clinical genetics (01.09.2021)
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ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
Hyder, Zerin, Van Paesschen, Wim, Sabir, Ataf, Sansbury, Francis H, Burke, Katherine B, Khan, Naz, Chandler, Kate E, Cooper, Nicola S, Wright, Ronnie, McHale, Edward, Van Esch, Hilde, Banka, Siddharth
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN)
Hyder, Zerin, Fairclough, Adele, Groom, Mike, Getty, Joan, Alexander, Elizabeth, van Veen, Elke M, Makin, Guy, Sethuraman, Chitra, Tang, Vivian, Evans, D Gareth, Maher, Eamonn R, Woodward, Emma R
Published in Journal of medical genetics (01.09.2021)
Published in Journal of medical genetics (01.09.2021)
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Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects
Pagnamenta, Alistair T., Jackson, Adam, Perveen, Rahat, Beaman, Glenda, Petts, Gemma, Gupta, Asheeta, Hyder, Zerin, Chung, Brian Hon‐Yin, Kan, Anita Sik‐Yau, Cheung, Ka Wang, Kerstjens‐Frederikse, Wilhelmina S., Abbott, Kristin M., Elpeleg, Orly, Taylor, Jenny C., Banka, Siddharth, Ta‐Shma, Asaf
Published in Clinical genetics (01.01.2022)
Published in Clinical genetics (01.01.2022)
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Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
Xia, Yue Yin, Gronwald, Jacek, Karlan, Beth, Lubinski, Jan, McCuaig, Jeanna M., Brooks, Jennifer, Moller, Pal, Eisen, Andrea, Sun, Sophie, Senter, Leigha, Bordeleau, Louise, Neuhausen, Susan L., Singer, Christian F., Tung, Nadine, Foulkes, William D., Sun, Ping, Narod, Steven A., Kotsopoulos, Joanne, Yerushalmi, Rinat, Fruscio, Robert, Rastelli, Antonella, Zovato, Stefania, Hyder, Zerin, Huzarski, Tomasz, Cybulski, Cezary, Sweet, Kevin, Wood, Marie, McKinnon, Wendy, Elser, Christine, Pal, Tuya, Wiesner, Georgia, Friedman, Eitan, Meschino, Wendy, Snyder, Carrie, Metcalfe, Kelly, Poll, Aletta, Gojska, Nicole, Warner, Ellen, Kim, Raymond H., Rosen, Barry, Demsky, Rochelle, Ainsworth, Peter, Panabaker, Karen, Steele, Linda, Saal, Howard, Serfas, Kim, Panchal, Seema, Cullinane, Carey A., Reilly, Robert E., Blum, Joanne L., Kwong, Ava, Rayson, Daniel, Isaacs, Claudine, Ramón y Cajal, Teresa, Dungan, Jeffrey, Cohen, Stephanie
Published in Gynecologic oncology (01.03.2022)
Published in Gynecologic oncology (01.03.2022)
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Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment
Evans, D. Gareth, Phillips, Kelly-Anne, Milne, Roger L., Fruscio, Robert, Cybulski, Cezary, Gronwald, Jacek, Lubinski, Jan, Huzarski, Tomasz, Hyder, Zerin, Forde, Claire, Metcalfe, Kelly, Senter, Leigha, Weitzel, Jeffrey, Tung, Nadine, Zakalik, Dana, Ekholm, Maria, Sun, Ping, Narod, Steven A.
Published in British journal of cancer (01.02.2023)
Published in British journal of cancer (01.02.2023)
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Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2 , and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer
Hyder, Zerin, Harkness, Elaine F, Woodward, Emma R, Bowers, Naomi L, Pereira, Marta, Wallace, Andrew J, Howell, Sacha J, Howell, Anthony, Lalloo, Fiona, Newman, William G, Smith, Miriam J, Evans, D Gareth
Published in Cancers (07.02.2020)
Published in Cancers (07.02.2020)
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Whole genome sequencing for diagnosis of neurological repeat expansion disorders
Ibanez, Kristina, Polke, James, Tanner Hagelstrom, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen, Daugherty, Louise, Kasperaviciute, Dalia, Mcdonagh, Ellen M, Smith, Katherine R, Antonio Rueda Martin, Polychronopoulos, Dimitris, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Laxmi Venkata Prasad Korlipara, Laurá, Matilde, Mcentagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen, Santos, Liana, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Patch, Christine, Taylor Tavares, Ana Lisa, Zerin Hyder, Need, Anna, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Genomics England Research Consortium, Deshpande, Viraj, Perry, Denise L, Shankar Ajay, Chawla, Aditi, Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Douglas, Angela, Wilson, Gill, Ellard, Sian, Temple, Karen, Mumford, Andrew, Mcmullan, Dom, Kikkeri Naresh, Flinter, Frances, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Chitty, Lyn S, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna
Published in bioRxiv (06.11.2020)
Published in bioRxiv (06.11.2020)
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