De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability by Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo-Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.

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2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family by Wafik, Mohamed, Taylor, John, Lester, Tracy, Gibbons, Richard J., Shears, Deborah J.

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1q24 deletion syndrome. Two cases and new insights into genotype‐phenotype correlations by Lefroy, Henrietta, Fox, Olivia, Javaid, Muhammad K, Makaya, Taffy, Shears, Deborah J.

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Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis by Walton, Isaac S, McCann, Emma, Weber, Astrid, Morton, Jenny E V, Noons, Peter, Wilson, Louise C, Ching, Rosanna C, Cilliers, Deirdre, Johnson, David, Phipps, Julie M, Shears, Deborah J, Thomas, Gregory P L, Wall, Steven A, Twigg, Stephen R F, Wilkie, Andrew O M

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Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q by KANTAPUTRA, Piranit N, MOPOCKI, Eva, HENNIG, Bianca P, PRAPHANPHOJ, Verayuth, LE CAIGNEC, Cédric, ISIDOR, Bertrand, KWEE, Mei L, SHEARS, Deborah J, MUNDLOS, Stefan

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Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity by Robertson, Stephen P., Jenkins, Zandra A., Morgan, Timothy, Adès, Lesley, Aftimos, Salim, Boute, Odile, Fiskerstrand, Torunn, Garcia-Miñaur, Sixto, Grix, Arthur, Green, Andrew, Kaloustian, Vazken Der, Lewkonia, Ray, McInnes, Brenda, van Haelst, Mieke M., Macini, Grazia, Illés, Tamás, Mortier, Geert, Newbury-Ecob, Ruth, Nicholson, Linda, Scott, Charles I., Ochman, Karolina, Brożek, Izabela, Shears, Deborah J., Superti-Furga, Andrea, Suri, Mohnish, Whiteford, Margo, Wilkie, Andrew O.M., Krakow, Deborah

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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation by Bernkopf, Marie, Abdullah, Ummi B, Bush, Stephen J, Wood, Katherine A, Ghaffari, Sahar, Giannoulatou, Eleni, Koelling, Nils, Maher, Geoffrey J, Thibaut, Loïc M, Williams, Jonathan, Blair, Edward M, Kelly, Fiona Blanco, Bloss, Angela, Burkitt-Wright, Emma, Canham, Natalie, Deng, Alexander T, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Gardham, Alice, Hay, Eleanor, Holder, Muriel, Homfray, Tessa, Hurst, Jane A, Johnson, Diana, Jones, Wendy D, Kini, Usha, Kivuva, Emma, Kumar, Ajith, Lees, Melissa M, Leitch, Harry G, Morton, Jenny E V, Németh, Andrea H, Ramachandrappa, Shwetha, Saunders, Katherine, Shears, Deborah J, Side, Lucy, Splitt, Miranda, Stewart, Alison, Stewart, Helen, Suri, Mohnish, Clouston, Penny, Davies, Robert W, Wilkie, Andrew O M, Goriely, Anne

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Kantaputra mesomelic dysplasia: A second reported family by Shears, Deborah J., Offiah, Amaka, Rutland, Paul, Sirimanna, Tony, Bitner-Glindzicz, Maria, Hall, Christine

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Pseudoautosomal linkage of familial hodgkin's lymphoma: molecular analysis of a unique family with leri–weill dyschondrosteosis and hodgkins lymphoma by Shears, Deborah J., Endris, Volker, Gokhale, David A., Dearden, Simon P., Radford, John A., Rappold, Gudrun A., Taylor, G. Malcolm

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Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726-1736) by Robertson, Stephen P., Jenkins, Zandra A., Morgan, Timothy, Adès, Lesley, Aftimos, Salim, Boute, Odile, Fiskerstrand, Torunn, Garcia-Miñaur, Sixto, Grix, Arthur, Green, Andrew, Kaloustian, Vazken Der, Lewkonia, Ray, McInnes, Brenda, van Haelst, Mieke M., Macini, Grazia, Illés, Tamás, Mortier, Geert, Newbury-Ecob, Ruth, Nicholson, Linda, Scott, Charles I., Ochman, Karolina, Brożek, Izabela, Shears, Deborah J., Superti-Furga, Andrea, Suri, Mohnish, Whiteford, Margo, Wilkie, Andrew O.M., Krakow, Deborah

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Kantaputra type mesomelic dysplasia is associated with duplications of the locus on chromosome 2q by Mundlos, Stefan, Kantaputra, Piranit Nik, Klopocki, Eva, Hennig, Bianca P, Le Caignec, Cedric, Praphanphoj, Verayuth, Kwee, Mei Lan, Shears, Deborah J, Isidor, Bertrand

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Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia by ROBERTSON, STEPHEN P, SHEARS, DEBORAH J, OEI, PAUL, WINTER, ROBIN M, SCAMBLER, PETER J, AFTIMOS, SALIM, SAVARIRAYAN, RAVI

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2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family by Wafik, Mohamed, Taylor, John, Lester, Tracy, Gibbons, Richard J, Shears, Deborah J

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Assessing frailty in the intensive care unit: A reliability and validity study by Shears, Melissa, Takaoka, Alyson, Rochwerg, Bram, Bagshaw, Sean M., Johnstone, Jennie, Holding, Amanda, Tharmalingam, Surenthar, Millen, Tina, Clarke, France, Rockwood, Kenneth, Li, Guowei, Thabane, Lehana, Muscedere, John, Stelfox, Henry T., Cook, Deborah J.

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O-Fucosylation of thrombospondin-like repeats is required for processing of microneme protein 2 and for efficient host cell invasion by Toxoplasma gondii tachyzoites by Bandini, Giulia, Leon, Deborah R., Hoppe, Carolin M., Zhang, Yue, Agop-Nersesian, Carolina, Shears, Melanie J., Mahal, Lara K., Routier, Françoise H., Costello, Catherine E., Samuelson, John

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HIV incidence among women using intramuscular depot medroxyprogesterone acetate, a copper intrauterine device, or a levonorgestrel implant for contraception: a randomised, multicen... by Ahmed, Khatija, Baeten, Jared M, Beksinska, Mags, Bekker, Linda-Gail, Bukusi, Elizabeth A, Donnell, Deborah, Gichangi, Peter B, Heller, Kate B, Hofmeyr, G Justus, Justman, Jessica, Kasaro, Margaret Phiri, Kiarie, James, Louw, Cheryl, Mastro, Timothy D, Morrison, Charles S, Mugo, Nelly R, Nair, Gonasagrie, Nanda, Kavita, Nhlabatsi, Zelda, Onono, Maricianah, Palanee-Phillips, Thesla, Pleaner, Melanie, Rees, Helen, Singata-Madliki, Mandisa, Scoville, Caitlin W, Selepe, Raesibe Agnes Pearl, Shears, Kathleen, Sibiya, Sydney, Smit, Jennifer, Steyn, Petrus S, Stringer, Jeffrey, Taylor, Douglas, Thomas, Katherine K, Welch, Julia D

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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis by Martin, Hilary C, Kim, Grace E, Pagnamenta, Alistair T, Murakami, Yoshiko, Carvill, Gemma L, Meyer, Esther, Copley, Richard R, Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R, Kronengold, Jack, Brown, Maile R, Hudspith, Karl A, Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C, Shears, Deborah, Stewart, Helen, Kurian, Manju A, Scheffer, Ingrid E, Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K, Taylor, Jenny C

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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome by Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen

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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders by Poole, Rebecca L., Docherty, Louise E., Al Sayegh, Abeer, Caliebe, Almuth, Turner, Claire, Baple, Emma, Wakeling, Emma, Harrison, Lucy, Lehmann, Anna, Temple, I. Karen, Mackay, Deborah J.G.

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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile by Al-Jawahiri, Reem, Foroutan, Aidin, McConkey, Haley, Levy, Michael, Haghshenas, Sadegheh, Rooney, Kathleen, Turner, Jasmin, Shears, Debbie, Holder, Muriel, Lefroy, Henrietta, Castle, Bruce, Reis, Linda M., Semina, Elena V., Nickerson, Deborah, Bamshad, Michael, Leal, Suzanne, Lachlan, Katherine, Chandler, Kate, Clayton-Smith, Jill, Hug, Franziska Phan, Pitteloud, Nelly, Bartoloni, Lucia, Hoffjan, Sabine, Park, Soo-Mi, Thankamony, Ajay, Lees, Melissa, Wakeling, Emma, Naik, Swati, Hanker, Britta, Girisha, Katta M., Agolini, Emanuele, Giuseppe, Zampino, Alban, Ziegler, Tessarech, Marine, Keren, Boris, Afenjar, Alexandra, Zweier, Christiane, Smol, Thomas, Nobuhiko, Okamoto, Sekiguchi, Futoshi, Tsuchida, Naomi, Matsumoto, Naomichi, Kou, Ikuyo, Yonezawa, Yoshiro, Ikegawa, Shiro, Callewaert, Bert, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., FionaMaleady-Crowe, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pullinger, John, Rendon, Augusto, TimRogers, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Williams, Eleanor, Kleinendorst, Lotte, Donaldson, Alan, Alders, Marielle, De Paepe, Anne, Sadikovic, Bekim, McNeill, Alisdair

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