Works by Hildebrand, Michael S

Results: 66
    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

    Audio Gene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening.

    Published in:
    Human Mutation, 2013, v. 34, n. 4, p. 539, doi. 10.1002/humu.22268
    By:
    • Taylor, Kyle R.;
    • DeLuca, Adam P.;
    • Shearer, A. Eliot;
    • Hildebrand, Michael S.;
    • Black‐Ziegelbein, E. Ann;
    • Anand, V. Nikhil;
    • Sloan, Christina M.;
    • Eppsteiner, Robert W.;
    • Scheetz, Todd E.;
    • Huygen, Patrick L. M.;
    • Smith, Richard J. H.;
    • Braun, Terry A.;
    • Casavant, Thomas L.
    Publication type:
    Article
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    DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

    Published in:
    Human Mutation, 2011, v. 32, n. 7, p. 825, doi. 10.1002/humu.21512
    By:
    • Hildebrand, Michael S.;
    • Morín, Matías;
    • Meyer, Nicole C.;
    • Mayo, Fernando;
    • Modamio-Hoybjor, Silvia;
    • Mencía, Angeles;
    • Olavarrieta, Leticia;
    • Morales-Angulo, Carmelo;
    • Nishimura, Carla J.;
    • Workman, Heather;
    • DeLuca, Adam P.;
    • del Castillo, Ignacio;
    • Taylor, Kyle R.;
    • Tompkins, Bruce;
    • Goodman, Corey W.;
    • Schrauwen, Isabelle;
    • Wesemael, Maarten Van;
    • Lachlan, K.;
    • Shearer, A. Eliot;
    • Braun, Terry A.
    Publication type:
    Article
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    PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 821, doi. 10.1002/acn3.224
    By:
    • Hildebrand, Michael S.;
    • Tankard, Rick;
    • Gazina, Elena V.;
    • Damiano, John A.;
    • Lawrence, Kate M.;
    • Dahl, Hans‐Henrik M.;
    • Regan, Brigid M.;
    • Shearer, Aiden Eliot;
    • Smith, Richard J. H.;
    • Marini, Carla;
    • Guerrini, Renzo;
    • Labate, Angelo;
    • Gambardella, Antonio;
    • Tinuper, Paolo;
    • Lichetta, Laura;
    • Baldassari, Sara;
    • Bisulli, Francesca;
    • Pippucci, Tommaso;
    • Scheffer, Ingrid E.;
    • Reid, Christopher A.
    Publication type:
    Article
    7

    Early neuroimaging markers of FOXP2 intragenic deletion.

    Published in:
    Scientific Reports, 2016, p. 35192, doi. 10.1038/srep35192
    By:
    • Liégeois, Frédérique J.;
    • Hildebrand, Michael S.;
    • Bonthrone, Alexandra;
    • Turner, Samantha J.;
    • Scheffer, Ingrid E.;
    • Bahlo, Melanie;
    • Connelly, Alan;
    • Morgan, Angela T.
    Publication type:
    Article
    8

    Loss of synaptic Zn<sup>2+</sup> transporter function increases risk of febrile seizures.

    Published in:
    Scientific Reports, 2015, p. 17816, doi. 10.1038/srep17816
    By:
    • Hildebrand, Michael S.;
    • Phillips, A. Marie;
    • Mullen, Saul A.;
    • Adlard, Paul A.;
    • Hardies, Katia;
    • Damiano, John A.;
    • Wimmer, Verena;
    • Bellows, Susannah T.;
    • McMahon, Jacinta M.;
    • Burgess, Rosemary;
    • Hendrickx, Rik;
    • Weckhuysen, Sarah;
    • Suls, Arvid;
    • De Jonghe, Peter;
    • Scheffer, Ingrid E.;
    • Petrou, Steven;
    • Berkovic, Samuel F.;
    • Reid, Christopher A.
    Publication type:
    Article
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    Evaluation of non-coding variation in GLUT1 deficiency.

    Published in:
    2016
    By:
    • Liu, Yu‐Chi;
    • Lee, Jia Wei Audrey;
    • Bellows, Susannah T;
    • Damiano, John A;
    • Mullen, Saul A;
    • Berkovic, Samuel F;
    • Bahlo, Melanie;
    • Scheffer, Ingrid E;
    • Hildebrand, Michael S;
    • Ryan, Monique M.;
    • Leventer, Richard J.;
    • Freeman, Jeremy L.;
    • Mackay, Mark T.;
    • Hayman, Michael;
    • Rodriguez‐Casero, Victoria;
    • Subramanian, Gopi;
    • Webster, Richard;
    • Sadleir, Lynette G.
    Publication type:
    journal article
    12

    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

    Published in:
    Nature Genetics, 2015, v. 47, n. 1, p. 39, doi. 10.1038/ng.3144
    By:
    • Muona, Mikko;
    • Tinuper, Paolo;
    • Licchetta, Laura;
    • Scheffer, Ingrid E;
    • Criscuolo, Chiara;
    • Filla, Alessandro;
    • Ferlazzo, Edoardo;
    • Ahmad, Jamil;
    • Ahmad, Adeel;
    • Baykan, Betul;
    • Said, Edith;
    • Topcu, Meral;
    • King, Mary D;
    • Berkovic, Samuel F;
    • Oliver, Karen L;
    • Hildebrand, Michael S;
    • Ozkara, Cigdem;
    • Andrade, Danielle M;
    • Engelsen, Bernt A;
    • Crespel, Arielle
    Publication type:
    Article
    13

    GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

    Published in:
    Nature Genetics, 2013, v. 45, n. 9, p. 1073, doi. 10.1038/ng.2727
    By:
    • Carvill, Gemma L;
    • Regan, Brigid M;
    • Yendle, Simone C;
    • O'Roak, Brian J;
    • Lozovaya, Natalia;
    • Bruneau, Nadine;
    • Burnashev, Nail;
    • Khan, Adiba;
    • Cook, Joseph;
    • Geraghty, Eileen;
    • Sadleir, Lynette G;
    • Turner, Samantha J;
    • Tsai, Meng-Han;
    • Webster, Richard;
    • Ouvrier, Robert;
    • Damiano, John A;
    • Berkovic, Samuel F;
    • Shendure, Jay;
    • Hildebrand, Michael S;
    • Szepetowski, Pierre
    Publication type:
    Article
    14

    Gain‐of‐function <italic>HCN2</italic> variants in genetic epilepsy.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 202, doi. 10.1002/humu.23357
    By:
    • Li, Melody;
    • Maljevic, Snezana;
    • Phillips, A. Marie;
    • Petrovski, Slave;
    • Hildebrand, Michael S.;
    • Burgess, Rosemary;
    • Mount, Therese;
    • Zara, Federico;
    • Striano, Pasquale;
    • Schubert, Julian;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Wong, Michael;
    • Weisenberg, Judith L.;
    • Thio, Liu Lin;
    • Lerche, Holger;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Petrou, Steven;
    • Reid, Christopher A.
    Publication type:
    Article
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    Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 16, p. 4483, doi. 10.1093/hmg/ddv171
    By:
    • Damiano, John A.;
    • Afawi, Zaid;
    • Bahlo, Melanie;
    • Mauermann, Monika;
    • Misk, Adel;
    • Arsov, Todor;
    • Oliver, Karen L.;
    • Dahl, Hans-Henrik M.;
    • Shearer, A. Eliot;
    • Smith, Richard J. H.;
    • Hall, Nathan E.;
    • Mahmood, Khalid;
    • Leventer, Richard J.;
    • Scheffer, Ingrid E.;
    • Muona, Mikko;
    • Lehesjoki, Anna-Elina;
    • Korczyn, Amos D.;
    • Herrmann, Harald;
    • Berkovic, Samuel F.;
    • Hildebrand, Michael S.
    Publication type:
    Article
    17

    16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 22, p. 6069, doi. 10.1093/hmg/ddu306
    By:
    • Reinthaler, Eva M.;
    • Lal, Dennis;
    • Lebon, Sebastien;
    • Hildebrand, Michael S.;
    • Dahl, Hans-Henrik M.;
    • Regan, Brigid M.;
    • Feucht, Martha;
    • Steinböck, Hannelore;
    • Neophytou, Birgit;
    • Ronen, Gabriel M.;
    • Roche, Laurian;
    • Gruber-Sedlmayr, Ursula;
    • Geldner, Julia;
    • Haberlandt, Edda;
    • Hoffmann, Per;
    • Herms, Stefan;
    • Gieger, Christian;
    • Waldenberger, Melanie;
    • Franke, Andre;
    • Wittig, Michael
    Publication type:
    Article
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    Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS).

    Published in:
    Annals of Neurology, 2024, v. 96, n. 5, p. 932, doi. 10.1002/ana.27041
    By:
    • Viswanathan, Sindhu;
    • Oliver, Karen L.;
    • Regan, Brigid M.;
    • Schneider, Amy L.;
    • Myers, Candace T.;
    • Mehaffey, Michele G.;
    • LaCroix, Amy J.;
    • Antony, Jayne;
    • Webster, Richard;
    • Cardamone, Michael;
    • Subramanian, Gopinath M.;
    • Chiu, Annie T.G.;
    • Roza, Eugenia;
    • Teleanu, Raluca I.;
    • Malone, Stephen;
    • Leventer, Richard J.;
    • Gill, Deepak;
    • Berkovic, Samuel F.;
    • Hildebrand, Michael S.;
    • Goad, Beatrice S.
    Publication type:
    Article
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    SCN1A Variants in vaccine-related febrile seizures: A prospective study.

    Published in:
    2020
    By:
    • Damiano, John A.;
    • Deng, Lucy;
    • Li, Wenhui;
    • Burgess, Rosemary;
    • Schneider, Amy L.;
    • Crawford, Nigel W.;
    • Buttery, Jim;
    • Gold, Michael;
    • Richmond, Peter;
    • Macartney, Kristine K.;
    • Hildebrand, Michael S.;
    • Scheffer, Ingrid E.;
    • Wood, Nicholas;
    • Berkovic, Samuel F.
    Publication type:
    journal article
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    Genetic male infertility and mutation of CATSPER ion channels.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1178, doi. 10.1038/ejhg.2010.108
    By:
    • Hildebrand, Michael S.;
    • Avenarius, Matthew R.;
    • Fellous, Marc;
    • Yuzhou Zhang;
    • Meyer, Nicole C.;
    • Auer, Jana;
    • Serres, Catherine;
    • Kahrizi, Kimia;
    • Najmabadi, Hossein;
    • Beckmann, Jacques S.;
    • Smith, Richard J. H.
    Publication type:
    Article
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    Advances in Molecular and Cellular Therapies for Hearing Loss.

    Published in:
    Molecular Therapy, 2008, v. 16, n. 2, p. 224, doi. 10.1038/sj.mt.6300351
    By:
    • Hildebrand, Michael S.;
    • Newton, Stephen S.;
    • Gubbels, Samuel P.;
    • Sheffield, Abraham M.;
    • Kochhar, Amit;
    • de Silva, Michelle G.;
    • Dahl, Hans-Henrik M.;
    • Rose, Scott D.;
    • Behlke, Mark A.;
    • Smith, Richard J. H.
    Publication type:
    Article
    28

    Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness.

    Published in:
    Otolaryngology-Head & Neck Surgery, 2012, v. 147, n. 5, p. 975, doi. 10.1177/0194599812454271
    By:
    • Eppsteiner, Robert W.;
    • Shearer, A. Eliot;
    • Hildebrand, Michael S.;
    • Taylor, Kyle R.;
    • DeLuca, Adam P.;
    • Scherer, Steve;
    • Huygen, Patrick;
    • Scheetz, Todd E.;
    • Braun, Terry A.;
    • Casavant, Thomas L.;
    • Smith, Richard J. H.
    Publication type:
    Article
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    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
    38
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    Self‐reported impact of developmental stuttering across the lifespan.

    Published in:
    Developmental Medicine & Child Neurology, 2022, v. 64, n. 10, p. 1297, doi. 10.1111/dmcn.15211
    By:
    • Boyce, Jessica O.;
    • Jackson, Victoria E.;
    • van Reyk, Olivia;
    • Parker, Richard;
    • Vogel, Adam P.;
    • Eising, Else;
    • Horton, Sarah E.;
    • Gillespie, Nathan A.;
    • Scheffer, Ingrid E.;
    • Amor, David J.;
    • Hildebrand, Michael S.;
    • Fisher, Simon E.;
    • Martin, Nicholas G.;
    • Reilly, Sheena;
    • Bahlo, Melanie;
    • Morgan, Angela T.
    Publication type:
    Article
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    Cochlear Implants for DFNA17 Deafness.

    Published in:
    Laryngoscope, 2006, v. 116, n. 12, p. 2211, doi. 10.1097/01.mlg.0000242089.72880.f8
    By:
    • Hildebrand, Michael S.;
    • de Silva, Michelle G.;
    • Gardner, R. J. McKinlay;
    • Rose, Elizabeth;
    • de Graaf, Carolyn A.;
    • Bahlo, Melanie;
    • Dahl, Hans-Henrik M.
    Publication type:
    Article
    47

    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
    48

    Recognition and epileptology of protracted CLN3 disease.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 7, p. 1833, doi. 10.1111/epi.17616
    By:
    • Cameron, Jillian M.;
    • Damiano, John A.;
    • Grinton, Bronwyn;
    • Carney, Patrick W.;
    • McKelvie, Penny;
    • Silbert, Peter;
    • Lawn, Nicholas;
    • Scheffer, Ingrid E.;
    • Oliver, Karen L.;
    • Hildebrand, Michael S.;
    • Berkovic, Samuel F.
    Publication type:
    Article
    49

    WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1351, doi. 10.1111/epi.17542
    By:
    • Oliver, Karen L.;
    • Trivisano, Marina;
    • Mandelstam, Simone A.;
    • De Dominicis, Angela;
    • Francis, David I.;
    • Green, Timothy E.;
    • Muir, Alison M.;
    • Chowdhary, Apoorva;
    • Hertzberg, Christoph;
    • Goldhahn, Klaus;
    • Metreau, Julia;
    • Prager, Christine;
    • Pinner, Jason;
    • Cardamone, Michael;
    • Myers, Kenneth A.;
    • Leventer, Richard J.;
    • Lesca, Gaetan;
    • Bahlo, Melanie;
    • Hildebrand, Michael S.;
    • Mefford, Heather C.
    Publication type:
    Article
    50

    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