Search Results - "Kiraly‐Borri, Catherine"

A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromes by Leedman, Nicholas, Princehorn, Murray, Gottardo, Nicholas, Franklin, Claire, D'Souza, Rebecca, Kiraly‐Borri, Catherine E

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Further evidence for distinct traits associated with RBM10 missense variants by Poulton, Cathryn, Baynam, Gareth, Pugh, Kye, Mason, Michael, Kiraly‐Borri, Catherine, Gration, Dylan, Dreyer, Lauren, Viti, Leon, Agostino, Mark, Heng, Julian Ik‐Tsen

“…A case of a missense RBM10 variant in an adult with mild to moderate intellectual disability…”
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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome by Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J M, de Vries, Bert B A, Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W, Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W E, Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M, Bijlsma, Emilia K, Hakonen, Anna H, Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L, Welling, Lindsey, Plomp, Astrid S, Vanhoutte, Els K, Kalsner, Louisa, Hol, Janna A, Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M L, van Gassen, Koen L I, Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L, Muir, Alison M, Sadikovic, Bekim, Brunner, Han G, Vissers, Lisenka E L M, Shinkai, Yoichi, Kleefstra, Tjitske

“…The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their…”
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Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry by Gupta, Surabhi, Nichols, Cassandra B, Phillips, Jessica, O'Sullivan, Sarah, Ayres, Chloe, Mohan, Ganendra Raj, Leung, Yee, Stewart, Colin J R, Tan, Adeline, Schofield, Lyn, Salfinger, Stuart G, Kiraly-Borri, Catherine, Pachter, Nicholas, Cohen, Paul A

“…In 2016 universal screening with mismatch repair protein immunohistochemistry in all newly diagnosed endometrial carcinomas was introduced in Western…”
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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders by Mannucci, Ilaria, Dang, Nghi D P, Huber, Hannes, Murry, Jaclyn B, Abramson, Jeff, Althoff, Thorsten, Banka, Siddharth, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J, Berland, Siren, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A, Braathen, Geir Julius, Busk, Øyvind L, Chenbhanich, Jirat, Denecke, Jonas, Escobar, Luis F, Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A, Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Le Guyader, Gwenael, Ljungblad, Ulf W, Brenman, Leslie Manace, Martinez-Agosto, Julian A, Might, Matthew, Miller, David T, Minks, Kelly Q, Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F, Parant, John M, Prescott, Trine, Rajabi, Farrah, Randrianaivo, Hanitra, Reiter, Simone F, Schuurs-Hoeijmakers, Janneke, Shieh, Perry B, Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P A, Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H, Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, Lessel, Davor

“…We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical…”
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The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study by Davidson, Aimee L, Dressel, Uwe, Norris, Sarah, Canson, Daffodil M, Glubb, Dylan M, Fortuno, Cristina, Hollway, Georgina E, Parsons, Michael T, Vidgen, Miranda E, Holmes, Oliver, Koufariotis, Lambros T, Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E, Pickett, Hilda A, Al-Shinnag, Mohammad K, Austin, Rachel L, Burke, Jo, Cops, Elisa J, Nichols, Cassandra B, Goodwin, Annabel, Harris, Marion T, Higgins, Megan J, Ip, Emilia L, Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L, Millward, Michael W, Monnik, Melissa J, Pachter, Nicholas S, Ragunathan, Abiramy, Susman, Rachel D, Townshend, Sharron L, Trainer, Alison H, Troth, Simon L, Tucker, Katherine M, Wallis, Mathew J, Walsh, Maie, Williams, Rachel A, Winship, Ingrid M, Newell, Felicity, Tudini, Emma, Pearson, John V, Poplawski, Nicola K, Mar Fan, Helen G, James, Paul A, Spurdle, Amanda B, Waddell, Nicola, Ward, Robyn L

“…Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families…”
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Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum by Kiraly-Borri, Catherine, Jevon, Gareth, Ji, Weizhen, Jeffries, Lauren, Ricciardi, Jamie-Lee, Konstantino, Monica, Ackerman, Kate G, Lakhani, Saquib A

“…Variants in the mitochondrial alanyl-tRNA synthetase 2 gene (OMIM 612035) are associated with infantile mitochondrial cardiomyopathy or later-onset…”
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Further evidence for distinct traits associated with RBM10 missense variants by Poulton, Cathryn, Baynam, Gareth, Pugh, Kye, Mason, Michael, Kiraly-Borri, Catherine, Gration, Dylan, Dreyer, Lauren, Viti, Leon, Agostino, Mark, Heng, Julian Ik-Tsen

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Soluble N-ethylmaleimide-sensitive-factor attachment protein and N-ethylmaleimide-insensitive factors are required for Ca2+-stimulated exocytosis of insulin by Kiraly-Borri, C E, Morgan, A, Burgoyne, R D, Weller, U, Wollheim, C B, Lang, J

“…Ca2+ stimulates exocytosis in permeabilized insulin-secreting cells. To investigate the putative cytosolic components involved in the Ca2+ response, HIT-T15…”
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