Works by Bennett, Mark F

Results: 24
    1

    Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants Open Access.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 15, p. 1286, doi. 10.1093/hmg/ddaf077
    By:
    • Sikta, Neblina;
    • Gooley, Samuel;
    • Green, Timothy E;
    • Hoeper, Olivia;
    • Witkowski, Tom;
    • Bennett, Caitlin;
    • Francis, David;
    • Reid, Joshua;
    • Mao, Kevin;
    • Awad, Mohammed;
    • Roberts-Thomson, Samuel;
    • Bulluss, Kristian;
    • Clark, Jonathan;
    • Scheffer, Ingrid E;
    • Perucca, Piero;
    • Bennett, Mark F;
    • Bahlo, Melanie;
    • Berkovic, Samuel F;
    • Hildebrand, Michael S
    Publication type:
    Article
    2

    Loss‐of‐function variants in K<sub>v</sub>11.1 cardiac channels as a biomarker for SUDEP.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1422, doi. 10.1002/acn3.51381
    By:
    • 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;
    • Crompton, Douglas;
    • Bahlo, Melanie;
    • Semsarian, Christopher;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Reid, Christopher A.
    Publication type:
    Article
    3

    Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 14, p. 2307, doi. 10.1093/hmg/ddab366
    By:
    • 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
    Publication type:
    Article
    4
    5

    REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01085-z
    By:
    • 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.
    Publication type:
    Article
    6

    Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1956, doi. 10.1002/humu.24454
    By:
    • Ye, Zimeng;
    • Lin, Sufang;
    • Zhao, Xia;
    • Bennett, Mark F.;
    • Brown, Natasha J.;
    • Wallis, Mathew;
    • Gao, Xinyi;
    • Sun, Li;
    • Wu, Jiarui;
    • Vedururu, Ravikiran;
    • Witkowski, Tom;
    • Gardiner, Fiona;
    • Stutterd, Chloe;
    • Duan, Jing;
    • Mullen, Saul A.;
    • McGillivray, George;
    • Bodek, Simon;
    • Valente, Giulia;
    • Reagan, Matthew;
    • Yao, Yi
    Publication type:
    Article
    7

    Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03297-5
    By:
    • Wallis, Mathew;
    • Bodek, Simon D.;
    • Munro, Jacob;
    • Rafehi, Haloom;
    • Bennett, Mark F.;
    • Ye, Zimeng;
    • Schneider, Amy;
    • Gardiner, Fiona;
    • Valente, Giulia;
    • Murdoch, Emma;
    • Uebergang, Eloise;
    • Hunter, Jacquie;
    • Stutterd, Chloe;
    • Huq, Aamira;
    • Salmon, Lucinda;
    • Scheffer, Ingrid;
    • Eratne, Dhamidhu;
    • Meyn, Stephen;
    • Fong, Chun Y.;
    • John, Tom
    Publication type:
    Article
    8

    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12671-y
    By:
    • Corbett, Mark A.;
    • Kroes, Thessa;
    • Veneziano, Liana;
    • Bennett, Mark F.;
    • Florian, Rahel;
    • Schneider, Amy L.;
    • Coppola, Antonietta;
    • Licchetta, Laura;
    • Franceschetti, Silvana;
    • Suppa, Antonio;
    • Wenger, Aaron;
    • Mei, Davide;
    • Pendziwiat, Manuela;
    • Kaya, Sabine;
    • Delledonne, Massimo;
    • Straussberg, Rachel;
    • Xumerle, Luciano;
    • Regan, Brigid;
    • Crompton, Douglas;
    • van Rootselaar, Anne-Fleur
    Publication type:
    Article
    9
    10
    11

    Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

    Published in:
    Epilepsia Open, 2019, v. 4, n. 3, p. 504, doi. 10.1002/epi4.12350
    By:
    • Ware, Tyson L.;
    • Huskins, Shannon R.;
    • Grinton, Bronwyn E.;
    • Liu, Yu‐Chi;
    • Bennett, Mark F.;
    • Harvey, Michael;
    • McMahon, Jacinta;
    • Andreopoulos‐Malikotsinas, Danae;
    • Bahlo, Melanie;
    • Howell, Katherine B.;
    • Hildebrand, Michael S.;
    • Damiano, John A.;
    • Rosenfeld, Alexander;
    • Mackay, Mark T.;
    • Mandelstam, Simone;
    • Leventer, Richard J.;
    • Harvey, A. Simon;
    • Freeman, Jeremy L.;
    • Scheffer, Ingrid E.;
    • Jones, Dean L.
    Publication type:
    Article
    12

    ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.

    Published in:
    Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02017-z
    By:
    • 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.
    Publication type:
    Article
    13

    Connecting omics signatures and revealing biological mechanisms with iLINCS.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32205-3
    By:
    • Pilarczyk, Marcin;
    • Fazel-Najafabadi, Mehdi;
    • Kouril, Michal;
    • Shamsaei, Behrouz;
    • Vasiliauskas, Juozas;
    • Niu, Wen;
    • Mahi, Naim;
    • Zhang, Lixia;
    • Clark, Nicholas A.;
    • Ren, Yan;
    • White, Shana;
    • Karim, Rashid;
    • Xu, Huan;
    • Biesiada, Jacek;
    • Bennett, Mark F.;
    • Davidson, Sarah E.;
    • Reichard, John F.;
    • Roberts, Kurt;
    • Stathias, Vasileios;
    • Koleti, Amar
    Publication type:
    Article
    14
    15

    SCN8A self‐limited infantile epilepsy: Does epilepsy resolve?

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 8, p. e156, doi. 10.1111/epi.18016
    By:
    • Young, Emma;
    • Harris, Rebekah;
    • Lieffering, Nico;
    • de Valles‐Ibáñez, Guillem;
    • Nyaga, Denis;
    • Bennett, Mark F.;
    • Hildebrand, Michael S.;
    • Scheffer, Ingrid E.;
    • Sadleir, Lynette G.
    Publication type:
    Article
    16
    17

    Genes4Epilepsy: An epilepsy gene resource.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1368, doi. 10.1111/epi.17547
    By:
    • Oliver, Karen L.;
    • Scheffer, Ingrid E.;
    • Bennett, Mark F.;
    • Grinton, Bronwyn E.;
    • Bahlo, Melanie;
    • Berkovic, Samuel F.
    Publication type:
    Article
    18

    Transcriptome analysis of a ring chromosome 20 patient cohort.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 1, p. e22, doi. 10.1111/epi.16766
    By:
    • 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.
    Publication type:
    Article
    19
    20
    21

    Transcriptional profiles of JIA patient blood with subsequent poor response to methotrexate.

    Published in:
    Rheumatology, 2017, v. 56, n. 9, p. 1542, doi. 10.1093/rheumatology/kex206
    By:
    • Moncrieffe, Halima;
    • Bennett, Mark F.;
    • Tsoras, Monica;
    • Luyrink, Lorie K.;
    • Johnson, Anne L.;
    • Huan Xu;
    • Dare, Jason;
    • Becker, Mara L.;
    • Prahalad, Sampath;
    • Rosenkranz, Margalit;
    • O'Neil, Kathleen M.;
    • Nigrovic, Peter A.;
    • Griffin, Thomas A.;
    • Lovell, Daniel J.;
    • Grom, Alexei A.;
    • Medvedovic, Mario;
    • Thompson, Susan D.
    Publication type:
    Article
    22
    23

    Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5086, doi. 10.1093/brain/awad314
    By:
    • Morgan, Angela T;
    • Scerri, Thomas S;
    • Vogel, Adam P;
    • Reid, Christopher A;
    • Quach, Mara;
    • Jackson, Victoria E;
    • McKenzie, Chaseley;
    • Burrows, Emma L;
    • Bennett, Mark F;
    • Turner, Samantha J;
    • Reilly, Sheena;
    • Horton, Sarah E;
    • Block, Susan;
    • Kefalianos, Elaina;
    • Frigerio-Domingues, Carlos;
    • Sainz, Eduardo;
    • Rigbye, Kristin A;
    • Featherby, Travis J;
    • Richards, Kay L;
    • Kueh, Andrew
    Publication type:
    Article
    24

    Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

    Published in:
    2022
    By:
    • 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
    Publication type:
    journal article