Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort
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
Published in Brain (London, England : 1878) (01.08.2019)
Published in Brain (London, England : 1878) (01.08.2019)
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Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
Kashiyama, Kazuya, Nakazawa, Yuka, Pilz, Daniela T., Guo, Chaowan, Shimada, Mayuko, Sasaki, Kensaku, Fawcett, Heather, Wing, Jonathan F., Lewin, Susan O., Carr, Lucinda, Li, Tao-Sheng, Yoshiura, Koh-ichiro, Utani, Atsushi, Hirano, Akiyoshi, Yamashita, Shunichi, Greenblatt, Danielle, Nardo, Tiziana, Stefanini, Miria, McGibbon, David, Sarkany, Robert, Fassihi, Hiva, Takahashi, Yoshito, Nagayama, Yuji, Mitsutake, Norisato, Lehmann, Alan R., Ogi, Tomoo
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants
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
Published in Brain (London, England : 1878) (22.10.2021)
Published in Brain (London, England : 1878) (22.10.2021)
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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
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
Published in Nature genetics (01.04.2014)
Published in Nature genetics (01.04.2014)
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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy
Cushion, Thomas D., Paciorkowski, Alex R., Pilz, Daniela T., Mullins, Jonathan G.L., Seltzer, Laurie E., Marion, Robert W., Tuttle, Emily, Ghoneim, Dalia, Christian, Susan L., Chung, Seo-Kyung, Rees, Mark I., Dobyns, William B.
Published in American journal of human genetics (03.04.2014)
Published in American journal of human genetics (03.04.2014)
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The genetics of lissencephaly
Fry, Andrew E., Cushion, Thomas D., Pilz, Daniela T.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2014)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2014)
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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
Mansour, Sahar, Ostergaard, Pia, Simpson, Michael A, Connell, Fiona C, Steward, Colin G, Brice, Glen, Woollard, Wesley J, Dafou, Dimitra, Kilo, Tatjana, Smithson, Sarah, Lunt, Peter, Murday, Victoria A, Hodgson, Shirley, Keenan, Russell, Pilz, Daniela T, Martinez-Corral, Ines, Makinen, Taija, Mortimer, Peter S, Jeffery, Steve, Trembath, Richard C
Published in Nature genetics (01.10.2011)
Published in Nature genetics (01.10.2011)
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
CUSHION, Thomas D, DOBYNS, William B, UYANIK, Gokhan, RANKIN, Julia, REES, Mark I, PILZ, Daniela T, MULLINS, Jonathan G. L, STOODLEY, Neil, CHUNG, Seo-Kyung, FRY, Andrew E, HEHR, Ute, GUNNY, Roxana, AYLSWORTH, Arthur S, PRABHAKAR, Prab
Published in Brain (London, England : 1878) (01.02.2013)
Published in Brain (London, England : 1878) (01.02.2013)
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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
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International consensus recommendations on the diagnostic work-up for malformations of cortical development
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
Published in Nature reviews. Neurology (01.11.2020)
Published in Nature reviews. Neurology (01.11.2020)
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Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
Leventer, Richard J., Jansen, Anna, Pilz, Daniela T., Stoodley, Neil, Marini, Carla, Dubeau, Francois, Malone, Jodie, Mitchell, L. Anne, Mandelstam, Simone, Scheffer, Ingrid E., Berkovic, Samuel F., Andermann, Frederick, Andermann, Eva, Guerrini, Renzo, Dobyns, William B.
Published in Brain (London, England : 1878) (01.05.2010)
Published in Brain (London, England : 1878) (01.05.2010)
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A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration
O’Neill, Adam C., Kyrousi, Christina, Klaus, Johannes, Leventer, Richard J., Kirk, Edwin P., Fry, Andrew, Pilz, Daniela T., Morgan, Tim, Jenkins, Zandra A., Drukker, Micha, Berkovic, Samuel F., Scheffer, Ingrid E., Guerrini, Renzo, Markie, David M., Götz, Magdalena, Cappello, Silvia, Robertson, Stephen P.
Published in Cell reports (Cambridge) (04.12.2018)
Published in Cell reports (Cambridge) (04.12.2018)
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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Te Keng, Wee ik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.
Published in Genetics in medicine (01.05.2016)
Published in Genetics in medicine (01.05.2016)
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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
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
Published in Brain (London, England : 1878) (01.03.2016)
Published in Brain (London, England : 1878) (01.03.2016)
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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
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.
Published in Human molecular genetics (15.07.2010)
Published in Human molecular genetics (15.07.2010)
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Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
Abdollahi, Mohammad R., Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E., Carr, Ian M., Springell, Kelly, Woods, C. Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T., Stoodley, Neil, Crow, Yanick, Taylor, Graham R., Bonthron, David T., Sheridan, Eamonn
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
Kharbanda, Mira, Pilz, Daniela T, Tomkins, Susan, Chandler, Kate, Saggar, Anand, Fryer, Alan, McKay, Victoria, Louro, Pedro, Smith, Jill Clayton, Burn, John, Kini, Usha, De Burca, Anna, FitzPatrick, David R, Kinning, Esther
Published in European journal of medical genetics (01.02.2017)
Published in European journal of medical genetics (01.02.2017)
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
Schanze, Ina, Bunt, Jens, Lim, Jonathan W.C., Schanze, Denny, Dean, Ryan J., Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven, Boppudi, Sangamitra, Bridges, Caitlin J., Cho, Megan T., Dobyns, William B., Donnai, Dian, Douglas, Jessica, Earl, Dawn L., Edwards, Timothy J., Faivre, Laurence, Fregeau, Brieana, Genevieve, David, Gérard, Marion, Gatinois, Vincent, Holder-Espinasse, Muriel, Huth, Samuel F., Izumi, Kosuke, Kerr, Bronwyn, Lacaze, Elodie, Lakeman, Phillis, Mahida, Sonal, Mirzaa, Ghayda M., Morgan, Sian M., Nowak, Catherine, Peeters, Hilde, Petit, Florence, Pilz, Daniela T., Puechberty, Jacques, Reinstein, Eyal, Rivière, Jean-Baptiste, Santani, Avni B., Schneider, Anouck, Sherr, Elliott H., Smith-Hicks, Constance, Wieland, Ilse, Zackai, Elaine, Zhao, Xiaonan, Gronostajski, Richard M., Zenker, Martin, Richards, Linda J.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness
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
Published in PloS one (05.08.2014)
Published in PloS one (05.08.2014)
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Journal Article
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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