Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome
Clayton-Smith, Jill, O'Sullivan, James, Daly, Sarah, Bhaskar, Sanjeev, Day, Ruth, Anderson, Beverley, Voss, Anne K., Thomas, Tim, Biesecker, Leslie G., Smith, Philip, Fryer, Alan, Chandler, Kate E., Kerr, Bronwyn, Tassabehji, May, Lynch, Sally-Ann, Krajewska-Walasek, Malgorzata, McKee, Shane, Smith, Janine, Sweeney, Elizabeth, Mansour, Sahar, Mohammed, Shehla, Donnai, Dian, Black, Graeme
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
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Contribution of retrotransposition to developmental disorders
Gardner, Eugene J., Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E., Handsaker, Juliet, Gerety, Sebastian S., Ironfield, Holly, Short, Patrick J., Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E., Clement, Emma, Lachlan, Katherine L., Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Published in Nature communications (11.10.2019)
Published in Nature communications (11.10.2019)
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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham Jr, John M., Geer Jr, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.
Published in American journal of medical genetics. Part A (01.07.2014)
Published in American journal of medical genetics. Part A (01.07.2014)
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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Ratbi, Ilham, Falkenberg, Kim D., Sommen, Manou, Al-Sheqaih, Nada, Guaoua, Soukaina, Vandeweyer, Geert, Urquhart, Jill E., Chandler, Kate E., Williams, Simon G., Roberts, Neil A., El Alloussi, Mustapha, Black, Graeme C., Ferdinandusse, Sacha, Ramdi, Hind, Heimler, Audrey, Fryer, Alan, Lynch, Sally-Ann, Cooper, Nicola, Ong, Kai Ren, Smith, Claire E.L., Inglehearn, Christopher F., Mighell, Alan J., Elcock, Claire, Poulter, James A., Tischkowitz, Marc, Davies, Sally J., Sefiani, Abdelaziz, Mironov, Aleksandr A., Newman, William G., Waterham, Hans R., Van Camp, Guy
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Bonthron, David T, Goizet, Cyril, Déry, Catherine, Woods, C Geoffrey, Ali, Manir, Weschke, Bernhard, Jackson, Andrew P, Voit, Thomas, King, Mary D, Baumann, Clarisse, Till, Marianne, Quarrell, Oliver W, Crow, Yanick J, Cau, Daniel, Lacombe, Didier, Lyall, Hermione, Lanzi, Giovanni, Stephenson, John B P, Griffith, Elen, Garner, Anna, Parmar, Rekha, Lebon, Pierre, McKeown, Carole, Rogers, R Curtis, Hayward, Bruce E, Babul-Hirji, Riyana, Bertini, Enrico, Martínez-Frías, María Luisa, Monier, Anne, Leitch, Andrea, Rittey, Christopher D, Semple, Colin, Aicardi, Jean, Chitayat, David, Tolmie, John L, Ponting, Chris P, Baxter, Peter, Tacke, Uta, Mathieu, Michèle, Sanchis, Amparo, Tomlin, Pam, Oade, Yvette, Klepper, Joerg, Fazzi, Elisa, Chandler, Kate E
Published in Nature genetics (01.08.2006)
Published in Nature genetics (01.08.2006)
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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
BURKITT WRIGHT, Emma M. M, SPENCER, Helen L, MADDEN, Colm, DODDS, Annabel, CHANDLER, Kate E, BANKA, Siddharth, AU, Leon, CLAYTON-SMITH, Jill, KHAN, Naz, BIESECKER, Leslie G, WILSON, Meredith, ROHRBACH, Marianne, DALY, Sarah B, COLOMBI, Marina, GIUNTA, Cecilia, BLACK, Graeme C. M, MANSON, Forbes D. C, ZEEF, Leo A. H, URQUHART, Jill, ZOPPI, Nicoletta, BONSHEK, Richard, TOSOUNIDIS, Ioannis, MOHAN, Meyyammai
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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De novo mutations in HNRNPU result in a neurodevelopmental syndrome
Yates, T. Michael, Vasudevan, Pradeep C., Chandler, Kate E., Donnelly, Deirdre E, Stark, Zornitza, Sadedin, Simon, Willoughby, Josh, Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations
Banka, Siddharth, de Goede, Christian, Yue, Wyatt W., Morris, Andrew A.M., von Bremen, Beate, Chandler, Kate E., Feichtinger, René G., Hart, Claire, Khan, Nasaim, Lunzer, Verena, Mataković, Lavinija, Marquardt, Thorsten, Makowski, Christine, Prokisch, Holger, Debus, Otfried, Nosaka, Kazuto, Sonwalkar, Hemant, Zimmermann, Franz A., Sperl, Wolfgang, Mayr, Johannes A.
Published in Molecular genetics and metabolism (01.12.2014)
Published in Molecular genetics and metabolism (01.12.2014)
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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 , and ADAR : a case-control study
Rice, Gillian I, PhD, Forte, Gabriella M A, MPhil, Szynkiewicz, Marcin, MSc, Chase, Diana S, PhD, Aeby, Alec, MD, Abdel-Hamid, Mohamed S, MSc, Ackroyd, Sam, MB ChB, Allcock, Rebecca, FRCPath, Bailey, Kathryn M, MRCPCH, Balottin, Umberto, MD, Barnerias, Christine, MD, Bernard, Genevieve, MD, Bodemer, Christine, PhD, Botella, Maria P, MD, Cereda, Cristina, PhD, Chandler, Kate E, MD, Dabydeen, Lyvia, MRCPCH, Dale, Russell C, PhD, De Laet, Corinne, MD, De Goede, Christian G E L, FRCPCH, del Toro, Mireia, MD, Effat, Laila, PhD, Enamorado, Noemi Nunez, MD, Fazzi, Elisa, MD, Gener, Blanca, MD, Haldre, Madli, BSc, Lin, Jean-Pierre S-M, PhD, Livingston, John H, MB ChB, Lourenco, Charles Marques, MD, Marques, Wilson, MD, Oades, Patrick, FRCPCH, Peterson, Pärt, PhD, Rasmussen, Magnhild, MD, Roubertie, Agathe, MD, Schmidt, Johanna Loewenstein, CGC, Shalev, Stavit A, MD, Simon, Rogelio, MD, Spiegel, Ronen, MD, Swoboda, Kathryn J, FACMG, Temtamy, Samia A, PhD, Vassallo, Grace, MD, Vilain, Catheline N, MD, Vogt, Julie, MRCP, Wermenbol, Vanessa, MD, Whitehouse, William P, FRCPCH, Soler, Doriette, MD, Olivieri, Ivana, MD, Orcesi, Simona, MD, Aglan, Mona S, PhD, Zaki, Maha S, PhD, Abdel-Salam, Ghada M H, PhD, Vanderver, Adeline, MD, Kisand, Kai, PhD, Rozenberg, Flore, MD, Lebon, Pierre, MD, Crow, Yanick J, Prof
Published in Lancet neurology (01.12.2013)
Published in Lancet neurology (01.12.2013)
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
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FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
Reuter, Miriam S, Riess, Angelika, Moog, Ute, Briggs, Tracy A, Chandler, Kate E, Rauch, Anita, Stampfer, Miriam, Steindl, Katharina, Gläser, Dieter, Joset, Pascal, Krumbiegel, Mandy, Rabe, Harald, Schulte-Mattler, Uta, Bauer, Peter, Beck-Wödl, Stefanie, Kohlhase, Jürgen, Reis, André, Zweier, Christiane
Published in Journal of medical genetics (01.01.2017)
Published in Journal of medical genetics (01.01.2017)
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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
Burkitt Wright, Emma M.M., Spencer, Helen L., Daly, Sarah B., Manson, Forbes D.C., Zeef, Leo A.H., Urquhart, Jill, Zoppi, Nicoletta, Bonshek, Richard, Tosounidis, Ioannis, Mohan, Meyyammai, Madden, Colm, Dodds, Annabel, Chandler, Kate E., Banka, Siddharth, Au, Leon, Clayton-Smith, Jill, Khan, Naz, Biesecker, Leslie G., Wilson, Meredith, Rohrbach, Marianne, Colombi, Marina, Giunta, Cecilia, Black, Graeme C.M.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects
Jackson, Adam, Moss, Celia, Chandler, Kate E, Balboa, Pablo Lopez, Bageta, Maria L, Petrof, Gabriela, Martinez, Anna E, Liu, Lu, Guy, Alyson, Mellerio, Jemima E, Lee, John Y W, Ogboli, Malobi, Ryan, Gavin, McGrath, John A, Banka, Siddharth
Published in British journal of dermatology (1951) (23.01.2023)
Published in British journal of dermatology (1951) (23.01.2023)
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Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
Molina-Ramírez, Leslie Patricia, Kyle, Claire, Ellingford, Jamie M, Wright, Ronnie, Taylor, Algy, Bhaskar, Sanjeev S, Campbell, Christopher, Jackson, Harriet, Fairclough, Adele, Rousseau, Abigail, Burghel, George J, Dutton, Laura, Banka, Siddharth, Briggs, Tracy A, Clayton-Smith, Jill, Douzgou, Sofia, Jones, Elizabeth A, Kingston, Helen M, Kerr, Bronwyn, Ealing, John, Somarathi, Suresh, Chandler, Kate E, Stuart, Helen M, Burkitt-Wright, Emma MM, Newman, William G, Bruce, Iain A, Black, Graeme C, Gokhale, David
Published in Journal of medical genetics (01.04.2022)
Published in Journal of medical genetics (01.04.2022)
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Reijnders, Margot R F, Janowski, Robert, Alvi, Mohsan, Self, Jay E, van Essen, Ton J, Vreeburg, Maaike, Rouhl, Rob P W, Stevens, Servi J C, Stegmann, Alexander P A, Schieving, Jolanda, Pfundt, Rolph, van Dijk, Katinke, Smeets, Eric, Stumpel, Connie T R M, Bok, Levinus A, Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margo, Chandler, Kate E, Douzgou, Sofia, Cooper, Nicola S, Tan, Ene-Choo, Foo, Roger, Lai, Angeline H M, Rankin, Julia, Green, Andrew, Lönnqvist, Tuula, Isohanni, Pirjo, Williams, Shelley, Ruhoy, Ilene, Carvalho, Karen S, Dowling, James J, Lev, Dorit L, Sterbova, Katalin, Lassuthova, Petra, Neupauerová, Jana, Waugh, Jeff L, Keros, Sotirios, Clayton-Smith, Jill, Smithson, Sarah F, Brunner, Han G, van Hoeckel, Ceciel, Anderson, Mel, Clowes, Virginia E, Siu, Victoria Mok, DDD study, The, Selber, Paulo, Leventer, Richard J, Nellaker, Christoffer, Niessing, Dierk, Hunt, David, Baralle, Diana
Published in Journal of medical genetics (01.02.2018)
Published in Journal of medical genetics (01.02.2018)
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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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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
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Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders
de Goede, Christian, Yue, Wyatt W, Yan, Guanhua, Ariyaratnam, Shyamala, Chandler, Kate E, Downes, Laura, Khan, Nasaim, Mohan, Meyyammai, Lowe, Martin, Banka, Siddharth
Published in European journal of paediatric neurology (01.03.2016)
Published in European journal of paediatric neurology (01.03.2016)
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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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