A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352(⁎))] Causing Episodic Ataxia Type 2

由 Lance, Sean, Mossman, Stuart, Poke, Gemma
發表在 Case Rep Neurol Med (2018)

Spinocerebellar Ataxia type 29 in a family of Māori descent

由 Ngo, Kathie J., Poke, Gemma, Neas, Katherine, Fogel, Brent L.
發表在 Cerebellum Ataxias (2019)

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

由 Kamien, Benjamin, Ronan, Anne, Poke, Gemma, Sinnerbrink, Ingrid, Baynam, Gareth, Ward, Michelle, Gibson, William T., Dudding-Byth, Tracy, Scott, Rodney J.
發表在 Mol Syndromol (2018)

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders

由 Theadom, Alice, Rodrigues, Miriam, Poke, Gemma, O'Grady, Gina, Love, Donald, Hammond-Tooke, Graeme, Parmar, Priya, Baker, Ronelle, Feigin, Valery, Jones, Kelly, Te Ao, Braden, Ranta, Anna, Roxburgh, Richard
發表在 Neuroepidemiology (2019)

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

由 Trimouille, Aurélien, Houcinat, Nada, Vuillaume, Marie-Laure, Fergelot, Patricia, Boucher, Cécile, Toutain, Jérôme, Caignec, Cédric Le, Vincent, Marie, Nizon, Mathilde, Andrieux, Joris, Vanlerberghe, Clémence, Delobel, Bruno, Duban, Bénédicte, Mansour, Sahar, Baple, Emma, McKeown, Colina, Poke, Gemma, Robertshaw, Kate, Fifield, Eve, Fabretto, Antonella, Pecile, Vanna, Gasparini, Paolo, Carrozzi, Marco, Lacombe, Didier, Arveiler, Benoît, Rooryck, Caroline, Moutton, Sébastien
發表在 Eur J Hum Genet (2017)

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

由 Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N., Coban-Akdemir, Zeynep H., Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B., Hassin-Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D., Grody, Wayne W., Gibbs, Richard, Geschwind, Daniel H., Lupski, James R., Below, Jennifer E., Nelson, Stanley F., Fogel, Brent L.
發表在 Hum Mutat (2019)

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

由 Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña-Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko
發表在 Hum Mutat (2016)

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

由 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
出版 2014

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

由 Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.
發表在 Am J Hum Genet (2021)