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Number of items: 22.

Zaman, Tariq, Helbig, Katherine L., Clatot, Jérôme, Thompson, Christopher H., Kang, Seok Kyu, Stouffs, Katrien, Jansen, Anna E., Verstraete, Lieve, Jacquinet, Adeline, Parrini, Elena, Guerrini, Renzo, Fujiwara, Yuh, Miyatake, Satoko, Ben-Zeev, Bruria, Bassan, Haim, Reish, Orit, Marom, Daphna, Hauser, Natalie, Vu, Thuy?Anh, Ackermann, Sally, Spencer, Careni E., Lippa, Natalie, Srinivasan, Shraddha, Charzewska, Agnieszka, Hoffman-Zacharska, Dorota, Fitzpatrick, David, Harrison, Victoria, Vasudevan, Pradeep, Joss, Shelagh, Pilz, Daniela T., Fawcett, Katherine A., Helbig, Ingo, Matsumoto, Naomichi, Kearney, Jennifer A., Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 and Goldberg, Ethan M. 2020. SCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation. Annals of Neurology 88 (2) , pp. 348-362. 10.1002/ana.25809
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Romaniello, Romina, Arrigoni, Filippo, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Bassi, Maria T., Rees, Mark I., Borgatti, Renato, Pilz, Daniela T. and Cushion, Thomas D. 2018. Tubulin genes and malformations of cortical development. European Journal of Medical Genetics 61 (12) , pp. 744-754. 10.1016/j.ejmg.2018.07.012
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Gardner, Jennifer, Cushion, Thomas, Niotakis, Georgios, Olson, Heather, Grant, P., Scott, Richard, Stoodley, Neil, Cohen, Julie, Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila, Mugalaasi, Hood, Mullins, Jonathan, Pilz, Daniela and Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924 2018. Clinical and functional characterization of the recurrent TUBA1A p.(Arg2His) mutation. Brain Sciences 8 (8) , 145. 10.3390/brainsci8080145
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Kamath, Arveen, Linden, Stefanie C. ORCID: https://orcid.org/0000-0003-2120-3811, Evans, Ffion M., Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Jose, Sian F., Spillane, Sally A., Hardie, Alan D. R., Morgan, Sian M. and Pilz, Daniela T. 2018. Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 (5) , pp. 520-528. 10.1002/ajmg.b.32643
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Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Rees, Elliott ORCID: https://orcid.org/0000-0002-6168-9222, Thompson, Rose, Mantripragada, Kiran ORCID: https://orcid.org/0000-0003-2070-8105, Blake, Penny, Jones, Glyn, Morgan, Sian, Jose, Sian, Mugalaasi, Hood, Archer, Hayley, McCann, Emma, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Taylor, Clare, Davies, Sally, Gibbon, Frances, Te Water Naude, Johann, Hartley, Louise, Thomas, Gareth, White, Catharine, Natarajan, Jaya, Thomas, Rhys H., Drew, Cheney ORCID: https://orcid.org/0000-0002-4397-6252, Chung, Seo-Kyung, Rees, Mark I. ORCID: https://orcid.org/0000-0002-6168-9222, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Pilz, Daniela T. and Kerr, Michael Patrick 2016. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 17 , -. 10.1186/s12881-016-0294-2
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Anderson, Sarah, Kamath, Arveen, Pilz, Daniela and Morgan, Sian 2016. A rare example of germ-line chromothripsis resulting in large genomic imbalance. Clinical Dysmorphology 25 (2) , pp. 58-62. 10.1097/MCD.0000000000000113

Urquhart, J.E., Beaman, G., Byers, H., Roberts, N.A., Chervinsky, E., O'Sullivan, J., Pilz, Daniela, Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924, Williams, S.G., Bhaskar, S.S., Khayat, M., Simanovsky, N., Shachar, I.B., Shalev, S.A. and Newman, W.G. 2016. DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. Clinical Genetics 89 (6) , pp. 724-727. 10.1111/cge.12734

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. and Wilson, Ian J. 2015. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genetics in Medicine 18 (5) , pp. 483-493. 10.1038/gim.2015.110
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Anderson, Michael G., 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. and Hardcastle, Alison J. 2014. Association of CHRDL1 mutations and variants with X-linked megalocornea, neuhäuser syndrome and central corneal thickness. PLoS ONE 9 (8) , e104163. 10.1371/journal.pone.0104163

Cushion, Thomas D., Dobyns, William B., Mullins, Jonathan G. L., Stoodley, Neil, Chung, Seo-Kyung, Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Hehr, Ute, Gunny, Roxana, Aylsworth, Arthur S., Prabhakar, Prab, Uyanik, Gokhan, Rankin, Julia, Rees, Mark I. and Pilz, Daniela T. 2013. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 136 (2) , pp. 536-548. 10.1093/brain/aws338

Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Kerr, Michael Patrick, Gibbon, Frances, Turnpenny, Peter D., Hamandi, Khalid, Stoodley, Neil, Robertson, Stephen and Pilz, Daniela T. 2013. Neuropsychiatric disease in patients with periventricular heterotopia. The Journal of Neuropsychiatry & Clinical Neurosciences 25 (1) , pp. 26-31. 10.1176/appi.neuropsych.11110336

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 Evan ORCID: https://orcid.org/0000-0001-9778-6924, Fryns, Jean-Pierre, Gripp, Karen W., Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M. S., Nowaczyk, Malgorzata 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. and Dobyns, William B. 2012. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome [Letter]. Nature Genetics 44 (4) , pp. 440-444. 10.1038/ng.1091

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. and Mansour, Sahar 2011. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nature Genetics 43 (10) , pp. 929-931. 10.1038/ng.923

Laycock-Van spyk, Sebastian, Jim, H. P., Thomas, Laura ORCID: https://orcid.org/0000-0002-8621-5285, Spurlock, Gillian, Fares, L., Palmer-Smith, S., Kini, U., Saggar, A., Patton, M., Mautner, V., Pilz, Daniela T. and Upadhyaya, Meena 2011. Identification of five novel SPRED1 germline mutations in Legius syndrome [Letter]. Clinical Genetics 80 (1) , pp. 93-96. 10.1111/j.1399-0004.2010.01618.x

O'Driscoll, Mary C., Daly, Sarah B., Urquhart, Jill E., Black, Graeme C.M., Pilz, Daniela T., Brockmann, Knut, McEntagart, Meriel, Abdel-Salam, Ghada, Zaki, Maha, Wolf, Nicole I., Ladda, Roger L., Sell, Susan, D'Arrigo, Stefano, Squier, Waney, Dobyns, William B., Livingston, John H. and Crow, Yanick J. 2010. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. American Journal of Human Genetics 87 (3) , pp. 354-364. 10.1016/j.ajhg.2010.07.012

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 and Dobyns, William B. 2010. Clinical and imaging heterogeneity of polymicrogyria: A study of 328 patients. Brain: A Journal of Neurology 133 (5) , pp. 1415-1427. 10.1093/brain/awq078

Kumar, R. A., Pilz, Daniela T., Babatz, T. D., Cushion, T. D., Harvey, K., Topf, M., Yates, L., Robb, S., Uyanik, G., Mancini, G. M. S., Rees, Mark I., Harvey, R. J. and Dobyns, W. B. 2010. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human Molecular Genetics 19 (14) , pp. 2817-2827. 10.1093/hmg/ddq182

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. and Sheridan, Eamonn 2009. Mutation of the variant α-Tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. American Journal of Human Genetics 85 (5) , pp. 737-744. 10.1016/j.ajhg.2009.10.007

Latimer, Joanna Elizabeth, Featherstone, Katie ORCID: https://orcid.org/0000-0003-4999-8425, Atkinson, Paul Anthony ORCID: https://orcid.org/0000-0001-7367-8160, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Pilz, Daniela T. and Shaw, Alison 2006. Rebirthing the clinic: the interaction of clinical judgment and genetic technology in the production of medical science. Science technology & human values 31 (5) , pp. 599-630. 10.1177/0162243906289613
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Evans, Julie C., Archer, Hayley Louise, Colley, James, Ravn, Kirstine, Nielsen, Jytte Bieber, Kerr, Alison, Williams, Elizabeth, Christodoulou, John, Gécz, Jozef, Jardine, Philip E., Wright, Michael J., Pilz, Daniela, Lazarou, Lazarus, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Butler, Rachel, Whatley, Sharon D. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2005. Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics 13 (10) , pp. 1113-1120. 10.1038/sj.ejhg.5201451

Featherstone, Katie ORCID: https://orcid.org/0000-0003-4999-8425, Latimer, Joanna Elizabeth, Atkinson, Paul Anthony ORCID: https://orcid.org/0000-0001-7367-8160, Pilz, Daniela T. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2005. Dysmorphology and the spectacle of the clinic. Sociology of Health & Illness 27 (5) , pp. 551-574. 10.1111/j.1467-9566.2005.00456.x
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Archer, Hayley Louise, Whatley, Sharon D., Evans, Julie C., Ravine, D., Huppke, P., Kerr, A., Bunyan, D., Kerr, B., Sweeney, E., Davies, S. J., Reardon, W., Horn, J., MacDermot, K. D., Smith, R. A., Magee, A., Donaldson, A., Crow, Y., Hermon, G., Miedzybrodzka, Z., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Lazarou, L., Butler, R., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Pilz, Daniela, Laccone, F. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2005. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of Medical Genetics 43 (5) , pp. 451-456. 10.1136/jmg.2005.033464

This list was generated on Fri Apr 18 08:46:19 2025 BST.


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