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Credit Name
Mark F Bennett
Full Name
Bennett, Mark F
 
 
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Publications

Results 1-17 of 17 (Search time: 0.007 seconds).

Publication YearTitleAuthor(s)
111-Aug-2022REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.Dolzhenko, Egor; Weisburd, Ben; Ibañez, Kristina; Rajan-Babu, Indhu-Shree; Anyansi, Christine; Bennett, Mark F ; Billingsley, Kimberley; Carroll, Ashley; Clamons, Samuel; Danzi, Matt C; Deshpande, Viraj; Ding, Jinhui; Fazal, Sarah; Halman, Andreas; Jadhav, Bharati; Qiu, Yunjiang; Richmond, Phillip A; Saunders, Christopher T; Scheffler, Konrad; van Vugt, Joke J F A; Zwamborn, Ramona R A J; Chong, Samuel S; Friedman, Jan M; Tucci, Arianna; Rehm, Heidi L; Eberle, Michael A
229-Jul-2022Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A; Bennett, Mark F ; Damiano, John A; Zsurka, Gábor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stéphanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E ; Bahlo, Melanie; Berkovic, Samuel F ; Hildebrand, Michael S ; Kunz, Wolfram S; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso
329-Jul-2022Clinical impact of whole-genome sequencing in patients with early-onset dementia.Huq, Aamira J; Thompson, Bryony; Bennett, Mark F ; Bournazos, Adam; Bommireddipalli, Shobhana; Gorelik, Alexandra; Schultz, Joshua; Sexton, Adrienne; Purvis, Rebecca; West, Kirsty; Cotter, Megan ; Valente, Giulia M ; Hughes, Andrew J ; Riaz, Moeen; Walsh, Maie; Farrand, Sarah; Loi, Samantha M; Kilpatrick, Trevor; Brodtmann, Amy ; Darby, David G; Eratne, Dhamidhu; Walterfang, Mark; Delatycki, Martin B ; Storey, Elsdon; Fahey, Michael; Cooper, Sandra; Lacaze, Paul; Masters, Colin L ; Velakoulis, Dennis; Bahlo, Melanie; James, Paul A; Winship, Ingrid
421-Jul-2022Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.Green, Timothy E; Motelow, Joshua E; Bennett, Mark F ; Ye, Zimeng; Bennett, Caitlin A; Griffin, Nicole G; Damiano, John A; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Lockhart, Paul J; Sadleir, Lynette G; Boys, Amber; Scheffer, Ingrid E ; Major, Heather; Darbro, Benjamin W; Bahlo, Melanie; Goldstein, David B; Kerrigan, John F; Heinzen, Erin L; Berkovic, Samuel F ; Hildebrand, Michael S 
5Mar-2022Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.Green, Timothy E; Schimmel, Mareike; Schubert, Susanna; Lemke, Johannes R; Bennett, Mark F ; Hildebrand, Michael S ; Berkovic, Samuel F 
62022Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.Bennett, Mark F ; Hildebrand, Michael S ; Kayumi, Sayaka; Corbett, Mark A; Gupta, Sachin; Ye, Zimeng; Krivanek, Michael; Burgess, Rosemary; Henry, Olivia J; Damiano, John A; Boys, Amber; Gécz, Jozef; Bahlo, Melanie; Scheffer, Ingrid E ; Berkovic, Samuel F 
7Jul-2021Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.Soh, Ming S; Bagnall, Richard D; Bennett, Mark F ; Bleakley, Lauren E; Mohamed Syazwan, Erlina S; Phillips, A Marie; Chiam, Mathew D F; McKenzie, Chaseley E; Hildebrand, Michael S ; Crompton, Douglas; Bahlo, Melanie; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A
818-May-2021Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.Soh, Ming S; Bagnall, Richard D; Bennett, Mark F ; Bleakley, Lauren E; Mohamed Syazwan, Erlina S; Marie Phillips, A; Chiam, Mathew D F; McKenzie, Chaseley E; Hildebrand, Michael S ; Crompton, Douglas; Bahlo, Melanie; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A
94-May-2021Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.Heron, Sarah E; Regan, Brigid M; Harris, Rebekah V; Gardner, Alison E; Coleman, Matthew J; Bennett, Mark F ; Grinton, Bronwyn E; Helbig, Katherine L; Sperling, Michael R; Haut, Sheryl; Geller, Eric B; Widdess-Walsh, Peter; Pelekanos, James T; Bahlo, Melanie; Petrovski, Slavé; Heinzen, Erin L; Hildebrand, Michael S ; Corbett, Mark A; Scheffer, Ingrid E ; Gécz, Jozef; Berkovic, Samuel F 
10Feb-2021NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T; Fenger, Christina; Afawi, Zaid; Almanza Fuerte, Edith P; Andrade, Danielle M; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F ; Berkovic, Samuel F ; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Øyvind L; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R; Hildebrand, Michael S ; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W; Koeleman, Bobby P C; Koolen, David A; Korff, Christian; Küry, Sébastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J; Mackay, Mark T; Macke, Erica L; McEntagart, Meriel; Mohammad, Shekeeb S; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G; Sadoway, Tara; Schelhaas, Helenius J; Schneider, Amy L ; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M; Smol, Thomas; Stumpel, Connie T R M; Stuurman, Kyra; Symonds, Joseph D; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A; Zerem, Ayelet; Zuberi, Sameer M; Guerrini, Renzo; Mefford, Heather C; Patel, Chirag; Zhang, Yue-Hua; Møller, Rikke S; Scheffer, Ingrid E 
11Jan-2021Transcriptome analysis of a ring chromosome 20 patient cohort.Myers, Kenneth A; Bennett, Mark F ; Hildebrand, Michael S ; Coleman, Matthew J; Zhou, Geyu; Hollingsworth, Georgie; Cairns, Anita; Riney, Kate; Berkovic, Samuel F ; Bahlo, Melanie; Scheffer, Ingrid E 
122021Cutting Edge Approaches to Detecting Brain Mosaicism Associated with Common Focal Epilepsies: Implications for Diagnosis and Potential therapies.Ye, Zimeng; Bennett, Mark F ; Bahlo, Melanie; Scheffer, Ingrid E ; Berkovic, Samuel F ; Perucca, Piero ; Hildebrand, Michael S 
132021Contribution of rare genetic variants to drug response in absence epilepsy.Myers, Kenneth A; Bennett, Mark F ; Grinton, Bronwyn E; Dabscheck, Gabriel; Chan, Eunice K; Bello-Espinosa, Luis E; Sadleir, Lynette G; D'Alfonso, Sabrina; Schneider, Amy L ; Damiano, John A; Hildebrand, Michael S ; Bahlo, Melanie; Berkovic, Samuel F ; Buchhalter, Jeffrey; Scheffer, Ingrid E 
142021Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.Yeetong, Patra; Chunharas, Chaipat; Pongpanich, Monnat; Bennett, Mark F ; Srichomthong, Chalurmpon; Pasutharnchat, Nath; Suphapeetiporn, Kanya; Bahlo, Melanie; Shotelersuk, Vorasuk
1514-Oct-2020Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.Palencia-Campos, Adrian; Aoto, Phillip C; Machal, Erik M F; Rivera-Barahona, Ana; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Van Hul, Wim; Huber, Celine; Bonneau, Dominique; Hildebrand, Michael S ; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F ; Schneider, Amy L ; Scheffer, Ingrid E ; Kibæk, Maria; Kristiansen, Britta S; Issa, Mahmoud Y; Mehrez, Mennat I; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Skålhegg, Bjørn Steen; Otaify, Ghada A; Temtamy, Samia; Aglan, Mona; Jønch, Aia E; De Luca, Alessandro; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, Alban; Wallis, Mathew J ; Lapunzina, Pablo; Herberg, Friedrich W; Taylor, Susan S; Ruiz-Perez, Victor L
16Jul-2020Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.Bennett, Mark F ; Oliver, Karen L; Regan, Brigid M; Bellows, Susannah T; Schneider, Amy L ; Rafehi, Haloom; Sikta, Neblina; Crompton, Douglas E; Coleman, Matthew; Hildebrand, Michael S ; Corbett, Mark A; Kroes, Thessa; Gecz, Jozef; Scheffer, Ingrid E ; Berkovic, Samuel F ; Bahlo, Melanie
1728-Apr-2020ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.Dolzhenko, Egor; Bennett, Mark F ; Richmond, Phillip A; Trost, Brett; Chen, Sai; van Vugt, Joke J F A; Nguyen, Charlotte; Narzisi, Giuseppe; Gainullin, Vladimir G; Gross, Andrew M; Lajoie, Bryan R; Taft, Ryan J; Wasserman, Wyeth W; Scherer, Stephen W; Veldink, Jan H; Bentley, David R; Yuen, Ryan K C; Bahlo, Melanie; Eberle, Michael A