Familial unilateral Brown syndrome

por Kenawy, Nihal, Pilz, Daniela T, Watts, Patrick
Publicado 2008

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

por Millar, David S, Tysoe, Carolyn, Lazarou, Lazarus P, Pilz, Daniela T, Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David N, Butler, Rachel
Publicado 2010

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

por Kumar, Ravinesh A., Pilz, Daniela T., Babatz, Timothy D., Cushion, Thomas D., Harvey, Kirsten, Topf, Maya, Yates, Laura, Robb, Stephanie, Uyanik, Gökhan, Mancini, Gracia M.S., Rees, Mark I., Harvey, Robert J., Dobyns, William B.
Publicado 2010

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

por Gardner, Jennifer F., Cushion, Thomas D., Niotakis, Georgios, Olson, Heather E., Grant, P. Ellen, Scott, Richard H., Stoodley, Neil, Cohen, Julie S., Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila M., Mugalaasi, Hood, Mullins, Jonathan G. L., Pilz, Daniela T., Fry, Andrew E.
Publicado 2018

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

por Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Keng, Wee Teik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.
Publicado 2016

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

por Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O’Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T, Selicorni, Angelo, Temple, I Karen, Van Maldergem, Lionel, Yachelevich, Naomi, van Montfort, Robert, Rahman, Nazneen
Publicado 2014

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

por Symonds, Joseph D, Elliott, Katherine S, Shetty, Jay, Armstrong, Martin, Brunklaus, Andreas, Cutcutache, Ioana, Diver, Louise A, Dorris, Liam, Gardiner, Sarah, Jollands, Alice, Joss, Shelagh, Kirkpatrick, Martin, McLellan, Ailsa, MacLeod, Stewart, O’Regan, Mary, Page, Matthew, Pilley, Elizabeth, Pilz, Daniela T, Stephen, Elma, Stewart, Kirsty, Ashrafian, Houman, Knight, Julian C, Zuberi, Sameer M
Publicado 2021

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

por Davidson, Alice E., Cheong, Sek-Shir, Hysi, Pirro G., Venturini, Cristina, Plagnol, Vincent, Ruddle, Jonathan B., Ali, Hala, Carnt, Nicole, Gardner, Jessica C., Hassan, Hala, Gade, Else, Kearns, Lisa, Jelsig, Anne Marie, Restori, Marie, Webb, Tom R., Laws, David, Cosgrove, Michael, Hertz, Jens M., Russell-Eggitt, Isabelle, Pilz, Daniela T., Hammond, Christopher J., Tuft, Stephen J., Hardcastle, Alison J.
Publicado 2014

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

por Fry, Andrew E., Rees, Elliott, Thompson, Rose, Mantripragada, Kiran, Blake, Penny, Jones, Glyn, Morgan, Sian, Jose, Sian, Mugalaasi, Hood, Archer, Hayley, McCann, Emma, Clarke, Angus, Taylor, Clare, Davies, Sally, Gibbon, Frances, Te Water Naude, Johann, Hartley, Louise, Thomas, Gareth, White, Catharine, Natarajan, Jaya, Thomas, Rhys H., Drew, Cheney, Chung, Seo-Kyung, Rees, Mark I., Holmans, Peter, Owen, Michael J., Kirov, George, Pilz, Daniela T., Kerr, Michael P.
Publicado 2016

International consensus recommendations on the diagnostic work-up for malformations of cortical development

por Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., Di Donato, Nataliya
Publicado 2020

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

por Symonds, Joseph D, Zuberi, Sameer M, Stewart, Kirsty, McLellan, Ailsa, O‘Regan, Mary, MacLeod, Stewart, Jollands, Alice, Joss, Shelagh, Kirkpatrick, Martin, Brunklaus, Andreas, Pilz, Daniela T, Shetty, Jay, Dorris, Liam, Abu-Arafeh, Ishaq, Andrew, Jamie, Brink, Philip, Callaghan, Mary, Cruden, Jamie, Diver, Louise A, Findlay, Christine, Gardiner, Sarah, Grattan, Rosemary, Lang, Bethan, MacDonnell, Jane, McKnight, Jean, Morrison, Calum A, Nairn, Lesley, Slean, Meghan M, Stephen, Elma, Webb, Alan, Vincent, Angela, Wilson, Margaret
Publicado 2019

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

por Mirzaa, Ghayda, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D., Hevner, Robert F., Bonthron, David T, Braun, Kees P.J., Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W, Mancini, Grazia MS, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycot, Kym M, Pilz, Daniela T., Ross, M. Elizabeth, Dobyns, William B., Sheridan, Eamonn G.
Publicado 2014

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

por Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O’Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Rahman, Omar A, Atkin, Joan F, Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew E, Fryns, Jean-Pierre, Gripp, Karen W, Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M S, Nowaczyk, Małgorzata J M, van Ravenswaaij-Arts, Conny M A, Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A, Siu, Victoria M, de Vries, Bert B A, Shendure, Jay, Verloes, Alain, Veltman, Joris A, Brunner, Han G, Ross, M Elizabeth, Pilz, Daniela T, Dobyns, William B
Publicado 2012

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

por Fry, Andrew E, Fawcett, Katherine A, Zelnik, Nathanel, Yuan, Hongjie, Thompson, Belinda A N, Shemer-Meiri, Lilach, Cushion, Thomas D, Mugalaasi, Hood, Sims, David, Stoodley, Neil, Chung, Seo-Kyung, Rees, Mark I, Patel, Chirag V, Brueton, Louise A, Layet, Valérie, Giuliano, Fabienne, Kerr, Michael P, Banne, Ehud, Meiner, Vardiella, Lerman-Sagie, Tally, Helbig, Katherine L, Kofman, Laura H, Knight, Kristin M, Chen, Wenjuan, Kannan, Varun, Hu, Chun, Kusumoto, Hirofumi, Zhang, Jin, Swanger, Sharon A, Shaulsky, Gil H, Mirzaa, Ghayda M, Muir, Alison M, Mefford, Heather C, Dobyns, William B, Mackenzie, Amanda B, Mullins, Jonathan G L, Lemke, Johannes R, Bahi-Buisson, Nadia, Traynelis, Stephen F, Iago, Heledd F, Pilz, Daniela T
Publicado 2018

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

por 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, Van Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E., Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen
Publicado 2018

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

por Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz
Publicado 2016

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

por Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M
Publicado 2013

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

por Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Publicado 2014