未登录 The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations 由于怀疑局灶性脑畸形而需要手术的婴儿癫痫痉挛综合征的遗传景观和分类 Coleman, Matthew; Wang, Min; Snell, Penny; Lee, Wei Shern; D'Arcy, Colleen; Mignone, Cristina; Pope, Kate; Gillies, Greta; Maixner, Wirginia; Wray, Alison; Harvey, A. Simon; Simons, Cas; Leventer, Richard J.; Stephenson, Sarah E. M.; Lockhart, Paul J.; Howell, Katherine B. 分享 收藏
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 (vol 110, pg 105, 2023) FGF14中的内含子GAA重复扩增导致常染色体显性成年型共济失调SCA27B/ATX-FGF14 (110卷，105页，2023页) Rafehi, Haloom; Read, Justin; Szmulewicz, David J.; Davies, Kayli C.; Snell, Penny; Fearnley, Liam G.; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F.; Munro, Jacob E.; Ngo, Kathie J.; Chen, Luke; Wallis, Mathew J.; Butler, Ernest G.; Kumar, Kishore R.; Wu, Kathy HC.; Tomlinson, Susan E.; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A.; Roberts, Leslie J.; Fogel, Brent L.; Bruggemann, Norbert; Lohmann, Katja; Delatycki, Martin B.; Bahlo, Melanie; Lockhart, Paul J. 分享 收藏
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14 Rafehi, Haloom; Read, Justin; Szmulewicz, David J.; Davies, Kayli C.; Snell, Penny; Fearnley, Liam G.; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F.; Munro, Jacob E.; Ngo, Kathie J.; Chen, Luke; Wallis, Mathew J.; Butler, Ernest G.; Kumar, Kishore R.; Wu, Kathy H. C.; Tomlinson, Susan E.; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A.; Roberts, Leslie J.; Fogel, Brent L.; Bruggemann, Norbert; Lohmann, Katja; Delatycki, Martin B.; Bahlo, Melanie; Lockhart, Paul J. 分享 收藏
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A family study implicates GBE1 in the etiology of autism spectrum disorder 一项家庭研究表明GBE1与自闭症谱系障碍的病因有关 Fanjul-Fernandez, Miriam; Brown, Natasha J.; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C.; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S.; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P.; Eichler, Evan E.; Delatycki, Martin B.; Wilson, Sarah J.; Bahlo, Melanie; Scheffer, Ingrid E.; Lockhart, Paul J. 分享 收藏
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain (vol 3, fcaa235, 2021) Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A.; McQuillan, Lara; Harvey, A. Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J.; Dobrovic, Alexander; Scheffer, Ingrid E.; Bahlo, Melanie; Leventer, Richard J.; Lister, Ryan; Berkovic, Samuel F.; Hildebrand, Michael S. 分享 收藏
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A.; McQuillan, Lara; Harvey, Anthony Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J.; Dobrovic, Alexander; Scheffer, Ingrid E.; Bahlo, Melanie; Leventer, Richard J.; Lister, Ryan; Berkovic, Samuel F.; Hildebrand, Michael S. 分享 收藏
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy Lee, Wei Shern; Stephenson, Sarah E. M.; Pope, Kate; Gillies, Greta; Maixner, Wirginia; Macdonald-Laurs, Emma; MacGregor, Duncan; D'Arcy, Colleen; Jackson, Graeme; Harvey, A. Simon; Leventer, Richard J.; Lockhart, Paul J. 分享 收藏
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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS Rafehi, Haloom; Szmulewicz, David J.; Bennett, Mark F.; Sobreira, Nara L. M.; Pope, Kate; Smith, Katherine R.; Gillies, Greta; Diakumis, Peter; Dolzhenko, Egor; Eberle, Michael A.; Garcia Barcina, Maria; Breen, David P.; Chancellor, Andrew M.; Cremer, Phillip D.; Delatycki, Martin B.; Fogel, Brent L.; Hackett, Anna; Halmagyi, G. Michael; Kapetanovic, Solange; Lang, Anthony; Mossman, Stuart; Mu, Weiyi; Patrikios, Peter; Perlman, Susan L.; Rosemergy, Ian; Storey, Elsdon; Watson, Shaun R. D.; Wilson, Michael A.; Zee, David S.; Valle, David; Amor, David J.; Bahlo, Melanie; Lockhart, Paul J. 分享 收藏
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA Lee, Wei Shern; Stephenson, Sarah E. M.; Howell, Katherine B.; Pope, Kate; Gillies, Greta; Wray, Alison; Maixner, Wirginia; Mandelstam, Simone A.; Berkovic, Samuel F.; Scheffer, Ingrid E.; MacGregor, Duncan; Harvey, Anthony Simon; Lockhart, Paul J.; Leventer, Richard J. 分享 收藏
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome Hildebrand, Michael S.; Harvey, A. Simon; Malone, Stephen; Damiano, John A.; Do, Hongdo; Ye, Zimeng; McQuillan, Lara; Maixner, Wirginia; Kalnins, Renate; Nolan, Bernadette; Wood, Martin; Ozturk, Ezgi; Jones, Nigel C.; Gillies, Greta; Pope, Kate; Lockhart, Paul J.; Dobrovic, Alexander; Leventer, Richard J.; Scheffer, Ingrid E.; Berkovic, Samuel F. 分享 收藏
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance Marsh, Ashley P. L.; Heron, Delphine; Edwards, Timothy J.; Quartier, Angelique; Galea, Charles; Nava, Caroline; Rastetter, Agnes; Moutard, Marie-Laure; Anderson, Vicki; Bitoun, Pierre; Bunt, Jens; Faudet, Anne; Garel, Catherine; Gillies, Greta; Gobius, Ilan; Guegan, Justine; Heide, Solveig; Keren, Boris; Lesne, Fabien; Lukic, Vesna; Mandelstam, Simone A.; McGillivray, George; McIlroy, Alissandra; Meneret, Aurelie; Mignot, Cyril; Morcom, Laura R.; Odent, Sylvie; Paolino, Annalisa; Pope, Kate; Riant, Florence; Robinson, Gail A.; Spencer-Smith, Megan; Srour, Myriam; Stephenson, Sarah E. M.; Tankard, Rick; Trouillard, Oriane; Welniarz, Quentin; Wood, Amanda; Brice, Alexis; Rouleau, Guy; Attie-Bitach, Tania; Delatycki, Martin B.; Mandel, Jean-Louis; Amor, David J.; Roze, Emmanuel; Piton, Amelie; Bahlo, Melanie; de Villemeur, Thierry Billette; Sherr, Elliott H.; Leventer, Richard J.; Richards, Linda J.; Lockhart, Paul J.; Depienne, Christel 分享 收藏
Rasmussen encephalitis tissue transfer program Kruse, Carol A.; Pardo, Carlos A.; Hartman, Adam L.; Jallo, George; Vining, Eileen P. G.; Voros, Joe; Gaillard, William D.; Liu, Judy; Oluigbo, Chima; Malone, Stephen; Bleasel, Andrew F.; Dexter, Mark; Micati, Alex; Velasco, Tonicarlo R.; Machado, Helio R.; Martino, Anthony M.; Huang, Adam; Wheatley, B. M.; Grant, Gerald A.; Granata, Tiziana; Freri, Elena; Garbelli, Rita; Koh, Sookyong; Nordli, Douglas R.; Campos, Alexandre R.; O'Neill, Brent; Handler, Michael H.; Chapman, Kevin E.; Wilfong, Angus A.; Curry, Daniel J.; Yaun, Amanda; Madsen, Joseph R.; Smyth, Matthew D.; Mercer, Deanna; Bingaman, William; Harvey, A. S.; Leventer, Richard J.; Lockhart, Paul J.; Gillies, Greta; Pope, Kate; Giller, Cole A.; Park, Yong D.; Rojiani, Amyn M.; Sharma, Suash J.; Jenkins, Patrick; Tung, Spencer; Huynh, My N.; Chirwa, Thabiso W.; Cepeda, Carlos; Levine, Michael S.; Chang, Julia W.; Owens, Geoffrey C.; Vinters, Harry V.; Mathern, Gary W. 分享 收藏
Familial Cortical Dysplasia Caused by Mutation in the Mammalian Target of Rapamycin Regulator NPRL3 Sim, Joe C.; Scerri, Thomas; Fanjul-Fernandez, Miriam; Riseley, Jessica R.; Gillies, Greta; Pope, Kate; van Roozendaal, Hanna; Heng, Julian I.; Mandelstam, Simone A.; McGillivray, George; MacGregor, Duncan; Kannan, Lakshminarayanan; Maixner, Wirginia; Harvey, A. Simon; Amor, David J.; Delatycki, Martin B.; Crino, Peter B.; Bahlo, Melanie; Lockhart, Paul J.; Leventer, Richard J. 分享 收藏
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5 Scerri, Thomas; Riseley, Jessica R.; Gillies, Greta; Pope, Kate; Burgess, Rosemary; Mandelstam, Simone A.; Dibbens, Leanne; Chow, Chung W.; Maixner, Wirginia; Harvey, Anthony Simon; Jackson, Graeme D.; Amor, David J.; Delatycki, Martin B.; Crino, Peter B.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Bahlo, Melanie; Lockhart, Paul J.; Leventer, Richard J. 分享 收藏
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology Wilson, Gabrielle R.; Sim, Joe C. H.; McLean, Catriona; Giannandrea, Maila; Galea, Charles A.; Riseley, Jessica R.; Stephenson, Sarah E. M.; Fitzpatrick, Elizabeth; Haas, Stefan A.; Pope, Kate; Hogan, Kirk J.; Gregg, Ronald G.; Bromhead, Catherine J.; Wargowski, David S.; Lawrence, Christopher H.; James, Paul A.; Churchyard, Andrew; Gao, Yujing; Phelan, Dean G.; Gillies, Greta; Salce, Nicholas; Stanford, Lynn; Marsh, Ashley P. L.; Mignogna, Maria L.; Hayflick, Susan J.; Leventer, Richard J.; Delatycki, Martin B.; Mellick, George D.; Kalscheuer, Vera M.; D'Adamo, Patrizia; Bahlo, Melanie; Amor, David J.; Lockhart, Paul J. 分享 收藏
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Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency Sim, Joe C. H.; White, Susan M.; Fitzpatrick, Elizabeth; Wilson, Gabrielle R.; Gillies, Greta; Pope, Kate; Mountford, Hayley S.; Torring, Pernille M.; Mckee, Shane; Vulto-van Silfhout, Anneke T.; Jhangiani, Shalini N.; Muzny, Donna M.; Leventer, Richard J.; Delatycki, Martin B.; Amor, David J.; Lockhart, Paul J. 分享 收藏
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP 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.; Destree, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M. C.; Heron, 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.; Moller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T.; Pope, Kate; Price, Susan; Renieri, Alessandra; Sa, 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. 分享 收藏
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