The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Santen, Gijs W. E.
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F, Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W, Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S, Goodship, Judith, Hobson, Emma, Jones, Wendy D, Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J, Turnpenny, Peter, Whitworth, James, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Lo, Cecilia W, FitzPatrick, David R, Hurles, Matthew E
Published in Nature genetics (01.11.2015)
Published in Nature genetics (01.11.2015)
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COLEC10 is mutated in 3MC patients and regulates early craniofacial development
Munye, Mustafa M, Diaz-Font, Anna, Ocaka, Louise, Henriksen, Maiken L, Lees, Melissa, Brady, Angela, Jenkins, Dagan, Morton, Jenny, Hansen, Soren W, Bacchelli, Chiara, Beales, Philip L, Hernandez-Hernandez, Victor
Published in PLoS genetics (16.03.2017)
Published in PLoS genetics (16.03.2017)
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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Beales, Philip L, Rooryck, Caroline, Diaz-Font, Anna, Osborn, Daniel P S, Chabchoub, Elyes, Hernandez-Hernandez, Victor, Shamseldin, Hanan, Kenny, Joanna, Waters, Aoife, Jenkins, Dagan, Kaissi, Ali Al, Leal, Gabriela F, Dallapiccola, Bruno, Carnevale, Franco, Bitner-Glindzicz, Maria, Lees, Melissa, Hennekam, Raoul, Stanier, Philip, Burns, Alan J, Peeters, Hilde, Alkuraya, Fowzan S
Published in Nature genetics (01.03.2011)
Published in Nature genetics (01.03.2011)
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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Vazquez, Marie-Paule, Fantes, Judy A, Vekemans, Michel, Holder-Espinasse, Muriel, Gordon, Christopher T, Kilpatrick, Nicky, Perry, Paul, Heaney, Simon, Thomas, Sophie, Ayuso, Carmen, Ramsay, Jacqueline, Lees, Melissa M, Crollius, Hugues Roest, Farlie, Peter G, Abadie, Véronique, Temple, I Karen, Lyonnet, Stanislas, Amiel, Jeanne, Fisher, Malcolm, Thomas, Paul, Kleinjan, Dirk-Jan, Etchevers, Heather C, Benko, Sabina, Jamshidi, Negar, Munnich, Arnold, Pelet, Anna, Essafi, Abdelkader, McBride, David, FitzPatrick, David R, Golzio, Christelle, Picard, Arnaud, Hastie, Nicholas D
Published in Nature genetics (01.03.2009)
Published in Nature genetics (01.03.2009)
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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
Symonds, Joseph D., Joss, Shelagh, Metcalfe, Kay A., Somarathi, Suresh, Cruden, Jamie, Devlin, Anita M., Donaldson, Alan, DiDonato, Nataliya, Fitzpatrick, David, Kaiser, Frank J., Lampe, Anne K., Lees, Melissa M., McLellan, Ailsa, Montgomery, Tara, Mundada, Vivek, Nairn, Lesley, Sarkar, Ajoy, Schallner, Jens, Pozojevic, Jelena, Parenti, Ilaria, Tan, Jeen, Turnpenny, Peter, Whitehouse, William P., Zuberi, Sameer M.
Published in Epilepsia (Copenhagen) (01.04.2017)
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Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy
Kanani, Farah, Titheradge, Hannah, Cooper, Nicola, Elmslie, Frances, Lees, Melissa M., Juusola, Jane, Pisani, Laura, McKenna, Carolyn, Mignot, Cyril, Valence, Stephanie, Keren, Boris, Lachlan, Katherine, Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.04.2020)
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Dominant missense mutations in ABCC9 cause Cantú syndrome
Harakalova, Magdalena, van Harssel, Jeske J T, Terhal, Paulien A, van Lieshout, Stef, Duran, Karen, Renkens, Ivo, Amor, David J, Wilson, Louise C, Kirk, Edwin P, Turner, Claire L S, Shears, Debbie, Garcia-Minaur, Sixto, Lees, Melissa M, Ross, Alison, Venselaar, Hanka, Vriend, Gert, Takanari, Hiroki, Rook, Martin B, van der Heyden, Marcel A G, Asselbergs, Folkert W, Breur, Hans M, Swinkels, Marielle E, Scurr, Ingrid J, Smithson, Sarah F, Knoers, Nine V, van der Smagt, Jasper J, Nijman, Isaac J, Kloosterman, Wigard P, van Haelst, Mieke M, van Haaften, Gijs, Cuppen, Edwin
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Published in Nature genetics (01.07.2012)
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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M, Williamson, Kathleen A, Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S, Stewart, Fiona, Willoughby, Colin E, McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I, Silva, Eduardo D, Madlom, Mukhlis M, Goudie, David R, Fleck, Brian W, Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D, Gardiner, Carol, Yale, Christopher, Moore, Anthony T, Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L, Tuft, Stephen J, Solano, Juan B, Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E, Shears, Deborah J, Nischal, Ken K, Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I Karen, Lachlan, Katherine L, Damante, Giuseppe, Morrison, Danny A, van Heyningen, Veronica, FitzPatrick, David R
Published in PloS one (28.04.2016)
Published in PloS one (28.04.2016)
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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
Ostrowski, Philip J., Zachariou, Anna, Loveday, Chey, Beleza‐Meireles, Ana, Bertoli, Marta, Dean, John, Douglas, Andrew G. L., Ellis, Ian, Foster, Alison, Graham, John M., Hague, Jennifer, Hilhorst‐Hofstee, Yvonne, Hoffer, Mariette, Johnson, Diana, Josifova, Dragana, Kant, Sarina G., Kini, Usha, Lachlan, Katherine, Lam, Wayne, Lees, Melissa, Lynch, Sally, Maitz, Silvia, McKee, Shane, Metcalfe, Kay, Nathanson, Katherine, Ockeloen, Charlotte W., Parker, Michael J., Pierson, Tyler M., Rahikkala, Elisa, Sanchez‐Lara, Pedro A., Spano, Alice, Van Maldergem, Lionel, Cole, Trevor, Douzgou, Sofia, Tatton‐Brown, Katrina
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
Blakes, Alexander J M, Wai, Htoo A, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F, Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew G L, Whiffin, Nicola, Baralle, Diana, Lord, Jenny
Published in Genome medicine (26.07.2022)
Published in Genome medicine (26.07.2022)
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A clinical scoring system for congenital contractural arachnodactyly
Meerschaut, Ilse, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M., Breckpot, Jeroen, de Burca, Anna, Destrée, Anne, García-Miñaúr, Sixto, Green, Andrew J., Hanna, Bernadette C., Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M., McKenzie, Fiona, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank S., Rauch, Anita, Ribaï, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C., Wakeling, Emma, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniël, Symoens, Sofie, Callewaert, Bert
Published in Genetics in medicine (2020)
Published in Genetics in medicine (2020)
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Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
Richards, Allan J, Fincham, Gregory S, McNinch, Annie, Hill, David, Poulson, Arabella V, Castle, Bruce, Lees, Melissa M, Moore, Anthony T, Scott, John D, Snead, Martin P
Published in Journal of medical genetics (01.11.2013)
Published in Journal of medical genetics (01.11.2013)
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Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene
Twigg, Stephen R.F., Versnel, Sarah L., Nürnberg, Gudrun, Lees, Melissa M., Bhat, Meenakshi, Hammond, Peter, Hennekam, Raoul C.M., Hoogeboom, A. Jeannette M., Hurst, Jane A., Johnson, David, Robinson, Alexis A., Scambler, Peter J., Gerrelli, Dianne, Nürnberg, Peter, Mathijssen, Irene M.J., Wilkie, Andrew O.M.
Published in American journal of human genetics (15.05.2009)
Published in American journal of human genetics (15.05.2009)
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Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
Robb, Stephanie A, Sewry, Caroline A, Dowling, James J, Feng, Lucy, Cullup, Tom, Lillis, Sue, Abbs, Stephen, Lees, Melissa M, Laporte, Jocelyn, Manzur, Adnan Y, Knight, Ravi K, Mills, Kerry R, Pike, Michael G, Kress, Wolfram, Beeson, David, Jungbluth, Heinz, Pitt, Matthew C, Muntoni, Francesco
Published in Neuromuscular disorders : NMD (01.06.2011)
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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G, Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T, Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M, Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I Karen, Turnpenny, Peter, Val Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E, Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen
Published in Wellcome open research (2018)
Published in Wellcome open research (2018)
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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice
Muggenthaler, Martina M A, Chowdhury, Biswajit, Hasan, S Naimul, Cross, Harold E, Mark, Brian, Harlalka, Gaurav V, Patton, Michael A, Ishida, Miho, Behr, Elijah R, Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L, Alkuraya, Fowzan S, Crosby, Andrew H, Triggs-Raine, Barbara, Chioza, Barry A
Published in PLoS genetics (12.01.2017)
Published in PLoS genetics (12.01.2017)
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Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
Poretti, Andrea, Vitiello, Giuseppina, Hennekam, Raoul C M, Arrigoni, Filippo, Bertini, Enrico, Borgatti, Renato, Brancati, Francesco, D'Arrigo, Stefano, Faravelli, Francesca, Giordano, Lucio, Huisman, Thierry A G M, Iannicelli, Miriam, Kluger, Gerhard, Kyllerman, Marten, Landgren, Magnus, Lees, Melissa M, Pinelli, Lorenzo, Romaniello, Romina, Scheer, Ianina, Schwarz, Christoph E, Spiegel, Ronen, Tibussek, Daniel, Valente, Enza Maria, Boltshauser, Eugen
Published in Orphanet journal of rare diseases (11.01.2012)
Published in Orphanet journal of rare diseases (11.01.2012)
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, Jr, J Lloyd, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
Published in Genome medicine (28.02.2019)
Published in Genome medicine (28.02.2019)
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Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux
Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., van Ravenswaaij-Arts, Conny, Pauli, Richard M., Mundlos, Stefan, Chitayat, David, Shih, Ling-Yu, Al-Gazali, Lihadh I., Kant, Sarina, Cole, Trevor, Morton, Jenny, Cormier-Daire, Valérie, Faivre, Laurence, Lees, Melissa, Kirk, Jeremy, Mortier, Geert R., Leroy, Jules, Zabel, Bernhard, Kim, Chong Ae, Crow, Yanick, Braverman, Nancy E., van den Akker, Focco, Warman, Matthew L.
Published in American journal of human genetics (01.07.2004)
Published in American journal of human genetics (01.07.2004)
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