未登录 分享 收藏
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
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt ZFX的变异与X连锁神经发育障碍相关，并伴有复发性面部格式塔 Shepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renee; Clayton-Smith, Jill; Crawford, Ali; Duno, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Kesh, Leila Amel Riazat; Kury, Sebastien; Lecoquierre, Francois; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Nemeth, Andrea H.; Ostergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan 分享 收藏
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations 外显子组测序的诊断效用，然后对人脑畸形进行研究再分析 Kooshavar, Daniz; Amor, David J.; Boggs, Kirsten; Baker, Naomi; Barnett, Christopher; de Silva, Michelle G.; Edwards, Samantha; Fahey, Michael C.; Marum, Justine E.; Snell, Penny; Bozaoglu, Kiymet; Pope, Kate; Mohammad, Shekeeb S.; Riney, Kate; Sachdev, Rani; Scheffer, Ingrid E.; Schenscher, Sarah; Silberstein, John; Smith, Nicholas; Tom, Melanie; Ware, Tyson L.; Lockhart, Paul J.; Leventer, Richard J. 分享 收藏
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 分类交配和亲本遗传相关性有助于可变表达变体的致病性 Smolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; Khattabi, Laila El; Prontera, Paolo; Caberg, Jean-Hubert; Dijck, Anke Van; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Giuseppa Maria Luana; Bruccheri, Maria Grazia; Pichon, Olivier; Caignec, Cedric Le; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh 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
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans Van Bergen, Nicole J.; Bell, Katrina M.; Carey, Kirsty; Gear, Russell; Massey, Sean; Murrell, Edward K.; Gallacher, Lyndon; Pope, Kate; Lockhart, Paul J.; Kornberg, Andrew; Pais, Lynn; Walkiewicz, Marzena; Simons, Cas; Flagship, Mcri Rare Diseases; Wickramasinghe, Vihandha O.; White, Susan M.; Christodoulou, John 分享 收藏
One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia Macdonald-Laurs, Emma; Maixner, Wirginia J.; Bailey, Catherine A.; Barton, Sarah M.; Mandelstam, Simone A.; Yang, Joseph Yuan-Mou; Warren, Aaron E. L.; Kean, Michael J.; Francis, Peter; MacGregor, Duncan; D'Arcy, Colleen; Wrennall, Jacquie A.; Davidson, Andrew; Pope, Kate; Leventer, Richard J.; Freeman, Jeremy L.; Wray, Alison; Jackson, Graeme D.; Harvey, A. Simon 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
Speech, Language, and Oromotor Skills in Patients With Polymicrogyria Braden, Ruth O.; Boyce, Jessica O.; Stutterd, Chloe A.; Pope, Kate; Goel, Himanshu; Leventer, Richard J.; Scheffer, Ingrid E.; Morgan, Angela T. 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 heterogeneity of polymicrogyria: study of 123 patients using deep sequencing Stutterd, Chloe A.; Brock, Stefanie; Stouffs, Katrien; Fanjul-Fernandez, Miriam; Lockhart, Paul J.; McGillivray, George; Mandelstam, Simone; Pope, Kate; Delatycki, Martin B.; Jansen, Anna; Leventer, Richard J. 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
分享 收藏
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
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Pizzo, Lucilla; Jensen, Matthew; Polyak, Andrew; Rosenfeld, Jill A.; Mannik, Katrin; Krishnan, Arjun; McCready, Elizabeth; Pichon, Olivier; Le Caignec, Cedric; Van Dijck, Anke; Pope, Kate; Voorhoeve, Els; Yoon, Jieun; Stankiewicz, Pawel; Cheung, Sau Wai; Pazuchanics, Damian; Huber, Emily; Kumar, Vijay; Kember, Rachel L.; Mari, Francesca; Curro, Aurora; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Luana; Vincent, Marie; Nizon, Mathilde; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Martin-Coignard, Dominique; Mosca-Boidron, Anne-Laure; Caberg, Jean-Hubert; Bucan, Maja; Zeesman, Susan; Nowaczyk, Malgorzata J. M.; Lefebvre, Mathilde; Faivre, Laurence; Callier, Patrick; Skinner, Cindy; Keren, Boris; Perrine, Charles; Prontera, Paolo; Marle, Nathalie; Renieri, Alessandra; Reymond, Alexandre; Kooy, R. Frank; Isidor, Bertrand; Schwartz, Charles; Romano, Corrado; Sistermans, Erik; Amor, David J.; Andrieux, Joris; Girirajan, Santhosh 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
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
