Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
Smith, Miriam J, O'Sullivan, James, Bhaskar, Sanjeev S, Hadfield, Kristen D, Poke, Gemma, Caird, John, Sharif, Saba, Eccles, Diana, Fitzpatrick, David, Rawluk, Daniel, du Plessis, Daniel, Newman, William G, Evans, D Gareth
Published in Nature genetics (01.03.2013)
Published in Nature genetics (01.03.2013)
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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
Cassatella, Daniele, Howard, Sasha R, Acierno, James S, Xu, Cheng, Papadakis, Georgios E, Santoni, Federico A, Dwyer, Andrew A, Santini, Sara, Sykiotis, Gerasimos P, Chambion, Caroline, Meylan, Jenny, Marino, Laura, Favre, Lucie, Li, Jiankang, Liu, Xuanzhu, Zhang, Jianguo, Bouloux, Pierre-Marc, Geyter, Christian De, Paepe, Anne De, Dhillo, Waljit S, Ferrara, Jean-Marc, Hauschild, Michael, Lang-Muritano, Mariarosaria, Lemke, Johannes R, Flück, Christa, Nemeth, Attila, Phan-Hug, Franziska, Pignatelli, Duarte, Popovic, Vera, Pekic, Sandra, Quinton, Richard, Szinnai, Gabor, l’Allemand, Dagmar, Konrad, Daniel, Sharif, Saba, Iyidir, Özlem Turhan, Stevenson, Brian J, Yang, Huanming, Dunkel, Leo, Pitteloud, Nelly
Published in European journal of endocrinology (01.04.2018)
Published in European journal of endocrinology (01.04.2018)
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Structural and functional properties of milk proteins as affected by heating, high pressure, Gamma and ultraviolet irradiation: a review
Abbas Syed, Qamar, Hassan, Ali, Sharif, Saba, Ishaq, Anum, Saeed, Farhan, Afzaal, Muhammad, Hussain, Muzzamal, Anjum, Faqir Muhammad
Published in International journal of food properties (01.01.2021)
Published in International journal of food properties (01.01.2021)
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IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
Bakey, Zeineb, Cabrera, Oscar A, Hoefele, Julia, Antony, Dinu, Wu, Kaman, Stuck, Michael W, Micha, Dimitra, Eguether, Thibaut, Smith, Abigail O, van der Wel, Nicole N, Wagner, Matias, Strittmatter, Lara, Beales, Philip L, Jonassen, Julie A, Thiffault, Isabelle, Cadieux-Dion, Maxime, Boyes, Laura, Sharif, Saba, Tüysüz, Beyhan, Dunstheimer, Desiree, Niessen, Hans W M, Devine, William, Lo, Cecilia W, Mitchison, Hannah M, Schmidts, Miriam, Pazour, Gregory J
Published in PLoS genetics (14.06.2023)
Published in PLoS genetics (14.06.2023)
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Second Primary Tumors in Neurofibromatosis 1 Patients Treated for Optic Glioma: Substantial Risks After Radiotherapy
SHARIF, Saba, FERNER, Rosalie, BIRCH, Jillian M, GILLESPIE, James E, RAO GATTAMANENI, H, BASER, Michael E, EVANS, D. Gareth R
Published in Journal of clinical oncology (01.06.2006)
Published in Journal of clinical oncology (01.06.2006)
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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling
Simon-Bouy, Brigitte, Taillandier, Agnès, Fauvert, Delphine, Brun-Heath, Isabelle, Serre, Jean-Louis, Armengod, Carmen G., Bialer, Martin G., Mathieu, Michèle, Cousin, Jacques, Chitayat, David, Liebelt, Jan, Feldman, Barbara, Gérard-Blanluet, Marion, Körtge-Jung, Stefani, King, Cath, Laivuori, Hannele, Le Merrer, Martine, Mehta, Sarju, Jern, Christina, Sharif, Saba, Prieur, Fabienne, Gillessen-Kaesbach, Gabriele, Zankl, Andreas, Mornet, Etienne
Published in Prenatal diagnosis (01.11.2008)
Published in Prenatal diagnosis (01.11.2008)
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Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial
Child, Anne, Stuart, A Graham, Aragon-Martin, José Antonio, Yuan, Li, Hu, Jiangting, Van Dyck, Laura, Knight, Rosemary, Clayton, Tim, Flather, Marcus, Dean, John, Gow, Heather, Murray, Jane, D'Allessandro, Mariella, Burns, Sharon, Paterson, Yvonne, Cotter, Catherine, Barclay, Justin, Prentice, Scott, O'Sullivan, John, Head-Baister, Alison, Crossland, D, Oliver, Jack, Wake, Jill, Quinn, Louise, Wealleans, Vera, Walker, Niki, Khambadkone, Sachin, Brady, Cassie, Szepezvary, Eszter, Titmus, Heather, Bo, Ilaria, Green, Loren, Jones, Nigel, Banks, Rebecca, Kiesewetter, Christopher, Mathur, Sujeev, Savis, Alex, Guzman, Josephine, Harris, Julia, Peacock, Kelly, Gibson, Kirsty, Kabir, Saleha, Mushemi, Sitali, Richardson, Cath, Leng, Elaine, Brennan, Paul, Nixon, Annabel, Turner, Louise, Bainbridge, Samantha, Kerr, Heather, Mordi, Ify, Duff, Jackie, Berg, Jonathan, Armory, Pauline, Freeman, Leisa, Anwar, Amir, Healey, Gail, Ilsley, Mary, Wood, Sheila, Wheeldon, Nigel, Middle, Janet, Walker, Rachel, Bennett, Tina, Clift, Paul, Alvior, Amor Mia, Green, Carole, West, Cathy, Naqvi, Nitha, Welch, Sophie, Farzad, Zohreh, Smith, Ben, Murday, Victoria, Murtagh, Eamonn, Adams, Emma, Richards, Amy, Andiapen, Mervyn, Hutchinson, Carmel, Newman, William G, Breen, Catherine, Kumar, Dhavendra, Wilson, Dirk G, Farrugia, Adele, Powell, Jessie, Hale, Terese, Boult, Zoe, Carroll, Aisling, Veldtman, Gruschen, Fletcher, Lisa, Mapstone, Sue, Marsh, Gary, Jones, Joanne, Sheehan, Karen, Stevenson, Kirsty, Nelson, Martin, Fairweather, Rebecca, Simpson, Sue, Steven, Jill, Munro, Joanna, Petrou, Mario, MacAllister, Raymond
Published in The Lancet (British edition) (21.12.2019)
Published in The Lancet (British edition) (21.12.2019)
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Coagulation of Metallic Pollutants from Wastewater Using a Variety of Coagulants Based on Metal Binding Interaction Studies
Sharif, Saba, Zaman, Qamar uz, Hassan, Faiza, Javaid, Sana, Arif, Khalid, Mansha, Muhammad Zeeshan, Ehsan, Nusrat, Nazir, Saba, Gul, Rehman, Iqbal, Munawar, Nazir, Arif
Published in Zeitschrift für physikalische Chemie (Neue Folge) (01.04.2021)
Published in Zeitschrift für physikalische Chemie (Neue Folge) (01.04.2021)
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Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing
Evans, D Gareth, Hartley, Claire L, Smith, Philip T, King, Andrew T, Bowers, Naomi L, Tobi, Simon, Wallace, Andrew J, Perry, Mary, Anup, Raji, Lloyd, Simon K W, Rutherford, Scott A, Hammerbeck-Ward, Charlotte, Pathmanaban, Omar N, Stapleton, Emma, Freeman, Simon R, Kellett, Mark, Halliday, Dorothy, Parry, Allyson, Gair, Juliette J, Axon, Patrick, Laitt, Roger, Thomas, Owen, Afridi, Shazia K, Obholzer, Rupert, Duff, Chris, Stivaros, Stavros M, Vassallo, Grace, Harkness, Elaine F, Smith, Miriam J
Published in Genetics in medicine (01.01.2020)
Published in Genetics in medicine (01.01.2020)
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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
Leslie, Goska, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Arnold, Norbert, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barwell, Julian, Belotti, Muriel, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Brennan, Paul, Brewer, Carole, Bucalo, Agostino, Buys, Saundra S, Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Claes, Kathleen B M, Coppa, Anna, Damante, Giuseppe, Davidson, Rosemarie, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesús, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D Gareth, Feliubadaló, Lidia, Gehrig, Andrea, Giraud, Sophie, Godwin, Andrew K, Gregory, Helen, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V O, Hentschel, Julia, Horvath, Judit, Izquierdo, Angel, Jensen, Uffe Birk, John, Esther M, Kruse, Torben A, Lautrup, Charlotte, Lesueur, Fabienne, Manoukian, Siranoush, Meindl, Alfons, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Palli, Domenico, Parsons, Michael T, Pedersen, Inge Sokilde, Perez-Segura, Pedro, Petersen, Annabeth H, Pinto, Pedro, Pottinger, Caroline, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T, Sánchez de Abajo, Ana María, Shah, Payal D, Sharif, Saba, Side, Lucy E, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tommasi, Stefania, Toss, Angela, Trainer, Alison H, van Asperen, Christi J, Venturelli, Marta, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Whaite, Anna, Offit, Kenneth, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Ottini, Laura
Published in JNCI : Journal of the National Cancer Institute (01.01.2022)
Published in JNCI : Journal of the National Cancer Institute (01.01.2022)
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Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing
Evans, D. Gareth, King, Andrew T., Bowers, Naomi L., Tobi, Simon, Wallace, Andrew J., Perry, Mary, Anup, Raji, Lloyd, Simon K.L., Rutherford, Scott A., Hammerbeck-Ward, Charlotte, Pathmanaban, Omar N., Stapleton, Emma, Freeman, Simon R., Kellett, Mark, Halliday, Dorothy, Parry, Allyson, Gair, Juliette J., Axon, Patrick, Laitt, Roger, Thomas, Owen, Afridi, Shazia, Ferner, Rosalie E., Harkness, Elaine F., Smith, Miriam J.
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Balasubramanian, Meena, Dingemans, Alexander J M, Albaba, Shadi, Richardson, Ruth, Yates, Thabo M, Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H, Burke, Katherine B, Fry, Andrew E, Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S, Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K, Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M, Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske
Published in European journal of human genetics : EJHG (01.04.2021)
Published in European journal of human genetics : EJHG (01.04.2021)
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Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2
Renard, Marjolijn, Callewaert, Bert, Malfait, Fransiska, Campens, Laurence, Sharif, Saba, del Campo, Miguel, Valenzuela, Irene, Mcwilliam, Catherine, Coucke, Paul, De Paepe, Anne, De Backer, Julie
Published in International journal of cardiology (25.05.2013)
Published in International journal of cardiology (25.05.2013)
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Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease
Blakely, Emma L., Yarham, John W., Alston, Charlotte L., Craig, Kate, Poulton, Joanna, Brierley, Charlotte, Park, Soo-Mi, Dean, Andrew, Xuereb, John H., Anderson, Kirstie N., Compston, Alistair, Allen, Chris, Sharif, Saba, Enevoldson, Peter, Wilson, Martin, Hammans, Simon R., Turnbull, Douglass M., McFarland, Robert, Taylor, Robert W.
Published in Human mutation (01.09.2013)
Published in Human mutation (01.09.2013)
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Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
Kast, Karin, John, Esther M, Hopper, John L, Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K, Ausems, Margreet G E M, Garcia, Encarnacion B Gomez, van de Beek, Irma, Wevers, Marijke R, Evans, D Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V, Andrulis, Irene L, Daly, Mary B, Southey, Melissa C, de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F, Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K, Milne, Roger L, Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E, Mooij, Thea M, Antoniou, Antonis C, Easton, Douglas F, Rookus, Matti A, Engel, Christoph
Published in Breast cancer research : BCR (20.06.2023)
Published in Breast cancer research : BCR (20.06.2023)
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Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
Cleaver, Ruth, Berg, Jonathan, Craft, Emily, Foster, Alison, Gibbons, Richard J., Hobson, Emma, Lachlan, Katherine, Naik, Swati, Sampson, Julian R., Sharif, Saba, Smithson, Sarah, Parker, Michael J., Tatton‐Brown, Katrina
Published in American journal of medical genetics. Part A (01.03.2019)
Published in American journal of medical genetics. Part A (01.03.2019)
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A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations
Sharif, Saba, Upadhyaya, Meena, Ferner, Rosalie, Majounie, Elisa, Shenton, Andrew, Baser, Michael, Thakker, Nalin, Evans, D Gareth
Published in Journal of medical genetics (01.04.2011)
Published in Journal of medical genetics (01.04.2011)
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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
Burkitt Wright, Emma MM, Sach, Emma, Sharif, Saba, Quarrell, Oliver, Carroll, Thomas, Whitehouse, Richard W, Upadhyaya, Meena, Huson, Susan M, Evans, D Gareth R
Published in Journal of medical genetics (01.09.2013)
Published in Journal of medical genetics (01.09.2013)
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