Michael Hildebrand

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

Claire Bar, Giulia Barcia, Melanie Jennesson, Gwenael Le Guyader, Amy Schneider, Cyril Mignot, Gaetan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gerard, Herve Isnard, Alice Poisson, Sophie Dupont, Patrick Berquin, Pierre Meyer, et al.

Journal article  |  2020  |  Human Mutation

Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Var..

SCN1A Variants in vaccine-related febrile seizures: A prospective study

John A Damiano, Lucy Deng, Wenhui Li, Rosemary Burgess, Amy L Schneider, Nigel W Crawford, Jim Buttery, Michael Gold, Peter Richmond, Kristine K Macartney, Michael S Hildebrand, Ingrid E Scheffer, Nicholas Wood, Samuel F Berkovic

Journal article  |  2019  |  Annals of Neurology

OBJECTIVE: Febrile seizures may follow vaccination. Common variants in the sodium channel gene, SCN1A, are associated with febrile..

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Jennifer L Johnson, Loredana Stoica, Yuwei Liu, Ping Jun Zhu, Abhisek Bhattacharya, Shelly A Buffington, Redwan Huq, N Tony Eissa, Ola Larsson, Bo T Porse, Deepti Domingo, Urwah Nawaz, Renee Carroll, Lachlan Jolly, Tom S Scerri, Hyung-Goo Kim, Amanda Brignell, Matthew J Coleman, Ruth Braden, Usha Kini, et al.

Journal article  |  2019  |  Neuron

In humans, disruption of nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism..

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Kamal Khan, Michael Zech, Angela T Morgan, David J Amor, Matej Skorvanek, Tahir N Khan, Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Matthew Coleman, Kristin A Rigbye, Ingrid E Scheffer, Melanie Bahlo, Matias Wagner, Daniel D Lam, Riccardo Berutti, Petra Havrankova, Anna Fecikova, Tim M Strom, Vladimir Han, et al.

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: The purpose of this study was to expand the genetic architecture of neurodevelopmental disorders, and to characterize the..

Familial Adult Myoclonic Epilepsy, Caused By A Pentanucleotide Repeat TTTCA Insertion In SAMD12, In Indian And Sri Lankan Families Extends The Occurrence Of This Mutation To A Wide Region Of Southern Asia

MF Bennett, H Rafehi, KL Oliver, AL Schneider, BM Regan, ST Bellows, MA Corbett, T Kroes, J Gecz, MS Hildebrand, IE Scheffer, SF Berkovic, M Bahlo

Conference Proceedings  |  2019  |  EPILEPSIA

Expanding The Clinical Spectrum Of WWOX Encephalopathy

KL Oliver, M Hildebrand, S Mullen, M Bennett, D Crompton, D Francis, A Schneider, C Bennett, M Coleman, M Wallace, C Michael, J Pinner, S Turner, A Morgan, B Melanie, S Berkovic, IE Scheffer

Conference Proceedings  |  2019  |  EPILEPSIA

Expansion of phenotype of DDX3X syndrome: six new cases

Bryony Beal, Ian Hayes, Julie McGaughran, David J Amor, Christina Miteff, Victoria Jackson, Olivia van Reyk, Gopinath Subramanian, Michael S Hildebrand, Angela T Morgan, Himanshu Goel

Journal article  |  2019  |  Clinical Dysmorphology

Pathogenic variants in DDX3X have recently been identified to be a relatively common cause of intellectual disability in females. ..

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

D Le Duc, C Giulivi, SM Hiatt, E Napoli, A Panoutsopoulos, A De Crescenzo, U Kotzaeridou, S Syrbe, E Anagnostou, M Azage, R Bend, A Begtrup, NJ Brown, B Buettner, MT Cho, GM Cooper, JH Doering, C Dubourg, DB Everman, MS Hildebrand, et al.

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies

Zimeng Ye, Lara McQuillan, Annapurna Poduri, Timothy E Green, Naomichi Matsumoto, Heather C Mefford, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2019  |  Epilepsy Research

Over the past decade there has been a substantial increase in genetic studies of brain malformations, fueled by the availability o..

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Diana Le Duc, Cecilia Giulivi, Susan M Hiatt, Eleonora Napoli, Alexios Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anagnostou, Meron Azage, Renee Bend, Amber Begtrup, Natasha J Brown, Benjamin Buettner, Megan T Cho, Gregory M Cooper, Jan H Doering, Christele Dubourg, David B Everman, Michael S Hildebrand, et al.

Journal article  |  2019  |  Brain

The underpinnings of mild to moderate neurodevelopmental delay remain elusive, often leading to late diagnosis and interventions. ..

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

Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones, et al.

Journal article  |  2019  |  Epilepsia Open

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephal..

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

Else Eising, Amaia Carrion-Castillo, Arianna Vino, Edythe A Strand, Kathy J Jakielski, Thomas S Scerri, Michael S Hildebrand, Richard Webster, Alan Ma, Bernard Mazoyer, Clyde Francks, Melanie Bahlo, Ingrid E Scheffer, Angela T Morgan, Lawrence D Shriberg, Simon E Fisher

Journal article  |  2019  |  Molecular Psychiatry

Dorsal language stream anomalies in an inherited speech disorder

Frederique J Liegeois, Samantha J Turner, Angela Mayes, Alexandra F Bonthrone, Amber Boys, Libby Smith, Bronwyn Parry-Fielder, Simone Mandelstam, Megan Spencer-Smith, Melanie Bahlo, Tom S Scerri, Michael S Hildebrand, Ingrid E Scheffer, Alan Connelly, Angela T Morgan

Journal article  |  2019  |  Brain

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Kevin T Booth, James W Askew, Zohreh Talebizadeh, Patrick LM Huygen, James Eudy, Judith Kenyon, Denise Hoover, Michael S Hildebrand, Katherine R Smith, Melanie Bahlo, William J Kimberling, Richard JH Smith, Hela Azaiez, Shelley D Smith

Journal article  |  2019  |  Genetics in Medicine

SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy

Danique RM Vlaskamp, Benjamin J Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T Myers, Mark F Bennett, Wenshu XiangWei, Danielle Williams, Saskia M Maas, Alice S Brooks, Grazia MS Mancini, Ingrid MBH van de Laar, Johanna M van Hagen, Tyson L Ware, Richard I Webster, Stephen Malone, Samuel F Berkovic, Renate M Kalnins, et al.

Journal article  |  2019  |  Neurology

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

Samuel F Berkovic, Karen L Oliver, Laura Canafoglia, Penina Krieger, John A Damiano, Michael S Hildebrand, Michela Morbin, Danya F Vears, Vito Sofia, Loretta Giuliano, Barbara Garavaglia, Alessandro Simonati, Filippo M Santorelli, Antonio Gambardella, Angelo Labate, Vincenzo Belcastro, Barbara Castellotti, Cigdem Ozkara, Adam Zeman, Julia Rankin, et al.

Journal article  |  2019  |  Brain

SYNGAP1 Developmental and Epileptic Encephalopathy: Delineating the Phenotypic Spectrum

DRM Vlaskamp, BJ Shaw, R Burgess, D Mei, M Montomoli, H Xie, CT Meyers, B Mark, D Williams, SM Maas, AS Brooks, GMS Verheijen-Mancini, IMBH de Graaf-Van de Laar, AM van Hagen, T Ware, R Webster, S Malone, SF Berkovic, RM Kalnins, CMA van Ravenswaaij-Arts, et al.

Conference Proceedings  |  2018  |  EPILEPSIA

Characterization of speech and language phenotype in children with NRXN1 deletions

Amanda Brignell, Miya St John, Amber Boys, Amanda Bruce, Carla Dinale, Lauren Pigdon, Michael S Hildebrand, David J Amor, Angela T Morgan

Journal article  |  2018  |  American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Development of a rapid functional assay that predicts GLUT1 disease severity

Sasha M Zaman, Saul A Mullen, Slave Petrovski, Snezana Maljevic, Elena Gazina, A Marie Phillips, Gabriel Davis Jones, Michael S Hildebrand, John Damiano, Stephane Auvin, Holger Lerche, Yvonne G Weber, Samuel F Berkovic, Ingrid E Scheffer, Christopher A Reid, Steven Petrou

Journal article  |  2018  |  Neurology Genetics

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy

Demet Kinay, Karen L Oliver, Erdem Tuzun, John A Damiano, Canan Ulusoy, Eva Andermann, Michael S Hildebrand, Melanie Bahlo, Samuel F Berkovic

Journal article  |  2018  |  Epilepsia

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

Michael S Hildebrand, A Simon Harvey, Stephen Malone, John A Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C Jones, Greta Gillies, Kate Pope, Paul J Lockhart, Alexander Dobrovic, Richard J Leventer, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2018  |  Neurology Genetics

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing

Jamie A Lopez, Tahereh Noori, Adrian Minson, Lu Li Jovanoska, Kevin Thia, Michael S Hildebrand, Hedieh Akhlaghi, Phillip K Darcy, Michael H Kershaw, Natasha J Brown, Andrew Grigg, Joseph A Trapani, Ilia Voskoboinik

Journal article  |  2018  |  Frontiers in Immunology

Gain-of-function HCN2 variants in genetic epilepsy

Melody Li, Snezana Maljevic, A Marie Phillips, Slave Petrovski, Michael S Hildebrand, Rosemary Burgess, Therese Mount, Federico Zara, Pasquale Striano, Julian Schubert, Holger Thiele, Peter Nuernberg, Michael Wong, Judith L Weisenberg, Liu Lin Thio, Holger Lerche, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou, Christopher A Reid

Journal article  |  2018  |  Human Mutation

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood

Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand

Journal article  |  2018  |  PLOS ONE

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome

John A Damiano, Hongdo Do, Ezgi Ozturk, Rosemary Burgess, Renate Kalnins, Nigel C Jones, Alexander Dobrovic, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2017  |  Epileptic Disorders

Genetic epilepsy with febrile seizures plus Refining the spectrum

Yue-Hua Zhang, Rosemary Burgess, Jodie P Malone, Georgie C Glubb, Katherine L Helbig, Lata Vadlamudi, Sara Kivity, Zaid Afawi, Andrew Bleasel, Padraic Grattan-Smith, Bronwyn E Grinton, Susannah T Bellows, Danya F Vears, John A Damiano, Hadassa Goldberg-Stern, Amos D Korczyn, Leanne M Dibbens, Elizabeth K Ruzzo, Michael S Hildebrand, Samuel F Berkovic, et al.

Journal article  |  2017  |  Neurology

Evaluation of GLUT1 variation in non-acquired focal epilepsy

Alexander Peeraer, John A Damiano, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic, Saul A Mullen, Michael S Hildebrand

Journal article  |  2017  |  Epilepsy Research

Clinical Reasoning: A 45-year-old woman with immobility and incontinence

Bei Zhang, Gang Liu, Ying Chen, Shan Tian, Kweku Laast, Yulong Bai, Yi Wu

Journal article  |  2017  |  Neurology

Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?

Amelia McGlade, Kenneth A Myers, Samuel F Berkovic, Ingrid E Scheffer, Slave Petrovski, Michael S Hildebrand

Journal article  |  2017  |  Annals of Clinical and Translational Neurology

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum

John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2017  |  Epilepsia

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy

Piero Perucca, Ingrid E Scheffer, A Simon Harvey, Paul A James, Sebastian Lunke, Natalie Thorne, Clara Gaff, Brigid M Regan, John A Damiano, Michael S Hildebrand, Samuel F Berkovic, Terence J O'Brien, Patrick Kwan

Journal article  |  2017  |  Epilepsy Research

FOXP2-Related Speech and Language Disorders

Angela Morgan, Simon E Fisher, Ingrid Scheffer, Michael Hildebrand

Journal article  |  2017  |  NIH Gene Reviews

CLINICAL CHARACTERISTICS:All FOXP2-related speech and language disorders, regardless of the underlying genetic alteration, have a ..

De novo SCN1A pathogenic variants in the GEFS plus spectrum: Not always a familial syndrome

Kenneth A Myers, Rosemary Burgess, Zaid Afawi, John A Damiano, Samuel F Berkovic, Michael S Hildebrand, Ingrid E Scheffer

Journal article  |  2017  |  Epilepsia

Synaptic Zn2 and febrile seizure susceptibility

Christopher A Reid, Michael S Hildebrand, Saul A Mullen, Joanne M Hildebrand, Samuel F Berkovic, Steven Petrou

Journal article  |  2017  |  British Journal of Pharmacology

Evaluation of non-coding variation in GLUT1 deficiency

Yu-Chi Liu, Jia Wei Audrey Lee, Susannah T Bellows, John A Damiano, Saul A Mullen, Samuel F Berkovic, Melanie Bahlo, Ingrid E Scheffer, Michael S Hildebrand

Journal article  |  2016  |  Developmental Medicine & Child Neurology

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Kristin A Rigbye, Peter M van Hasselt, Rosemary Burgess, John A Damiano, Saul A Mullen, Slave Petrovski, Ram S Puranam, Koen LI van Gassen, Jozef Gecz, Ingrid E Scheffer, James O McNamara, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2016  |  Epilepsy Research

Early neuroimaging markers of FOXP2 intragenic deletion

Frederique J Liegeois, Michael S Hildebrand, Alexandra Bonthrone, Samantha J Turner, Ingrid E Scheffer, Melanie Bahlo, Alan Connelly, Angela T Morgan

Journal article  |  2016  |  Scientific Reports

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Samuel F Berkovic, John F Staropoli, Stirling Carpenter, Karen L Oliver, Stanislav Kmoch, Glenn W Anderson, John A Damiano, Michael S Hildebrand, Katherine B Sims, Susan L Cotman, Melanie Bahlo, Katherine R Smith, Maxime Cadieux-Dion, Patrick Cossette, Ivana Jedlickova, Anna Pristoupilova, Sara E Mole

Journal article  |  2016  |  Neurology

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Michael S Hildebrand, Nicole G Griffin, John A Damiano, Elisa J Cops, Rosemary Burgess, Ezgi Ozturk, Nigel C Jones, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Lynette G Sadleir, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Andrew S Allen, David B Goldstein, John F Kerrigan, Samuel F Berkovic, Erin L Heinzen

Journal article  |  2016  |  The American Journal of Human Genetics

Audioprofile Surfaces: The 21st Century Audiogram

Kyle R Taylor, Kevin T Booth, Hela Azaiez, Christina M Sloan, Diana L Kolbe, Emily N Glanz, A Eliot Shearer, Adam P DeLuca, V Nikhil Anand, Michael S Hildebrand, Allen C Simpson, Robert W Eppsteiner, Todd E Scheetz, Terry A Braun, Patrick LM Huygen, Richard JH Smith, Thomas L Casavant

Journal article  |  2016  |  Annals of Otology, Rhinology & Laryngology

A targeted resequencing gene panel for focal epilepsy

Michael S Hildebrand, Candace T Myers, Gemma L Carvill, Brigid M Regan, John A Damiano, Saul A Mullen, Mark R Newton, Umesh Nair, Elena V Gazina, Carol J Milligan, Christopher A Reid, Steven Petrou, Ingrid E Scheffer, Samuel F Berkovic, Heather C Mefford

Journal article  |  2016  |  Neurology

Loss of synaptic Zn2 transporter function increases risk of febrile seizures

Michael S Hildebrand, A Marie Phillips, Saul A Mullen, Paul A Adlard, Katia Hardies, John A Damiano, Verena Wimmer, Susannah T Bellows, Jacinta M McMahon, Rosemary Burgess, Rik Hendrickx, Sarah Weckhuysen, Arvid Suls, Peter De Jonghe, Ingrid E Scheffer, Steven Petrou, Samuel F Berkovic, Christopher A Reid

Journal article  |  2015  |  Scientific Reports

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

John A Damiano, Saul A Mullen, Michael S Hildebrand, Susannah T Bellows, Kate M Lawrence, Todor Arsov, Leanne Dibbens, Heather Major, Hans-Henrik M Dahl, Heather C Mefford, Benjamin W Darbro, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2015  |  Epilepsy Research

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

John A Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen L Oliver, Hans-Henrik M Dahl, A Eliot Shearer, Richard JH Smith, Nathan E Hall, Khalid Mahmood, Richard J Leventer, Ingrid E Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D Korczyn, Harald Herrmann, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2015  |  Human Molecular Genetics

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence, Hans-Henrik M Dahl, Brigid M Regan, Aiden Eliot Shearer, Richard JH Smith, Carla Marini, Renzo Guerrini, Angelo Labate, Antonio Gambardella, Paolo Tinuper, Laura Lichetta, Sara Baldassari, Francesca Bisulli, Tommaso Pippucci, Ingrid E Scheffer, Christopher A Reid, et al.

Journal article  |  2015  |  Annals of Clinical and Translational Neurology

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome

Lynette G Sadleir, Sarah Paterson, Katherine R Smith, Natalie Redshaw, Annemarei Ranta, Renate Kalnins, Samuel F Berkovic, Melanie Bahlo, Michael S Hildebrand, Ingrid E Scheffer

Journal article  |  2015  |  Epilepsy Research

HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice

Hela Azaiez, Amanda R Decker, Kevin T Booth, Allen C Simpson, A Eliot Shearer, Patrick LM Huygen, Fengxiao Bu, Michael S Hildebrand, Paul T Ranum, Seiji B Shibata, Ann Turner, Yuzhou Zhang, William J Kimberling, Robert A Cornell, Richard JH Smith

Journal article  |  2015  |  PLOS Genetics

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E Heron, Michael S Hildebrand, Eva Andermann, Frederick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E Scheffer, Chiara Criscuolo, et al.

Journal article  |  2015  |  Nature Genetics

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

Eva M Reinthaler, Dennis Lal, Sebastien Lebon, Michael S Hildebrand, Hans-Henrik M Dahl, Brigid M Regan, Martha Feucht, Hannelore Steinboeck, Birgit Neophytou, Gabriel M Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig, et al.

Journal article  |  2014  |  Human Molecular Genetics

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

A Eliot Shearer, Robert W Eppsteiner, Kevin T Booth, Sean S Ephraim, Jose Gurrola, Allen Simpson, E Ann Black-Ziegelbein, Swati Joshi, Harini Ravi, Angelica C Giuffre, Scott Happe, Michael S Hildebrand, Hela Azaiez, Yildirim A Bayazit, Mehmet Emin Erdal, Jose A Lopez-Escamez, Irene Gazquez, Marta L Tamayo, Nancy Y Gelvez, Greizy Lopez Leal, et al.

Journal article  |  2014  |  The American Journal of Human Genetics

Does variation in NIPA2 contribute to genetic generalized epilepsy?

Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2014  |  Human Genetics

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Karen L Oliver, Hans-Henrik M Dahl, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2014  |  Epilepsia

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

Dalia Kasperaviciute, Claudia B Catarino, Mar Matarin, Costin Leu, Jan Novy, Anna Tostevin, Barbara Leal, Ellen VS Hessel, Kerstin Hallmann, Michael S Hildebrand, Hans-Henrik M Dahl, Mina Ryten, Daniah Trabzuni, Adaikalavan Ramasamy, Saud Alhusaini, Colin P Doherty, Thomas Dorn, Joerg Hansen, Guenter Kraemer, Bernhard J Steinhoff, et al.

Journal article  |  2013  |  Brain

Small Intragenic Deletion in FOXP2 Associated With Childhood Apraxia of Speech and Dysarthria

Samantha J Turner, Michael S Hildebrand, Susan Block, John Damiano, Michael Fahey, Sheena Reilly, Melanie Bahlo, Ingrid E Scheffer, Angela T Morgan

Journal article  |  2013  |  American Journal of Medical Genetics. Part A

Advancing genetic testing for deafness with genomic technology

A Eliot Shearer, E Ann Black-Ziegelbein, Michael S Hildebrand, Robert W Eppsteiner, Harini Ravi, Swati Joshi, Angelica C Guiffre, Christina M Sloan, Scott Happe, Susanna D Howard, Barbara Novak, Adam P DeLuca, Kyle R Taylor, Todd E Scheetz, Terry A Braun, Thomas L Casavant, William J Kimberling, Emily M LeProust, Richard JH Smith

Journal article  |  2013  |  Journal of Medical Genetics

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Gemma L Carvill, Brigid M Regan, Simone C Yendle, Brian J O'Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G Sadleir, Samantha J Turner, Meng-Han Tsai, Richard Webster, Robert Ouvrier, John A Damiano, Samuel F Berkovic, Jay Shendure, Michael S Hildebrand, Pierre Szepetowski, et al.

Journal article  |  2013  |  Nature Genetics

Recent advances in the molecular genetics of epilepsy

Michael S Hildebrand, Hans-Henrik M Dahl, John Anthony Damiano, Richard JH Smith, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2013  |  Journal of Medical Genetics

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

Kyle R Taylor, Adam P DeLuca, A Eliot Shearer, Michael S Hildebrand, E Ann Black-Ziegelbein, V Nikhil Anand, Christina M Sloan, Robert W Eppsteiner, Todd E Scheetz, Patrick LM Huygen, Richard JH Smith, Terry A Braun, Thomas L Casavant

Journal article  |  2013  |  Human Mutation

CFTR-deficient pigs display peripheral nervous system defects at birth

Leah R Reznikov, Qian Dong, Jeng-Haur Chen, Thomas O Moninger, Jung Min Park, Yuzhou Zhang, Jianyang Du, Michael S Hildebrand, Richard JH Smith, Christoph O Randak, David A Stoltz, Michael J Welsh

Journal article  |  2013  |  Proceedings of the National Academy of Sciences of the United States of America

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

A Eliot Shearer, Michael S Hildebrand, Harini Ravi, Swati Joshi, Angelica C Guiffre, Barbara Novak, Scott Happe, Emily M LeProust, Richard JH Smith

Journal article  |  2012  |  BMC Genomics

Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness

Robert W Eppsteiner, A Eliot Shearer, Michael S Hildebrand, Kyle R Taylor, Adam P DeLuca, Steve Scherer, Patrick Huygen, Todd E Scheetz, Terry A Braun, Thomas L Casavant, Richard JH Smith

Journal article  |  2012  |  Otolaryngology-Head and Neck Surgery

A Mutation in the Srrm4 Gene Causes Alternative Splicing Defects and Deafness in the Bronx Waltzer Mouse

Yoko Nakano, Israt Jahan, Gregory Bonde, Xingshen Sun, Michael S Hildebrand, John F Engelhardt, Richard JH Smith, Robert A Cornell, Bernd Fritzsch, Botond Banfi

Journal article  |  2012  |  PLoS Genetics

Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis

Robert W Eppsteiner, A Eliot Shearer, Michael S Hildebrand, Adam P DeLuca, Haihong Ji, Camille C Dunn, Elizabeth A Black-Ziegelbein, Thomas L Casavant, Terry A Braun, Todd E Scheetz, Steven E Scherer, Marlan R Hansen, Bruce J Gantz, Richard JH Smith

Journal article  |  2012  |  Hearing Research

Solution-based targeted genomic enrichment for precious DNA samples

Aiden Eliot Shearer, Michael S Hildebrand, Richard JH Smith

Journal article  |  2012  |  BMC Biotechnology

Solution-based targeted genomic enrichment for precious DNA samples

undefined Shearer, MS Hildebrand, JH Smith

Journal article  |  2012  |  BMC Biotechnology

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

AE Shearer, MS Hildebrand, H Ravi, S Joshi, AC Guiffre, B Novak, S Happe, E LeProust, RJH Smith

Journal article  |  2012  |  BMC Genomics

Deafness in the genomics era

A Eliot Shearer, Michael S Hildebrand, Christina M Sloan, Richard JH Smith

Journal article  |  2011  |  Hearing Research

AudioGene: Computer-based prediction of genetic factors involved in non-syndromic hearing impairment

KR Taylor, AP DeLuca, CW Goodman, BW Tompkins, TE Scheetz, MS Hildebrand, PLM Huygen, RJH Smith, TA Braun, TL Casavant

Conference Proceedings  |  2011  |  2011 9th IEEE/ACS International Conference on Computer Systems and Applications (AICCSA)

Exome capture and array comparative genomic hybridization of a monozygotic twin pair discordant for dense deposit disease

JCC Cruz Corchado, C Nishimura, C Meyer, KF Frees, MB Jones, YZ Zang, A Weaver, M Ealy, MS Hildebrand, JH Smith

Conference Proceedings  |  2011  |  Molecular Immunology

Viral vector tropism for supporting cells in the developing murine cochlea

Abraham M Sheffield, Samuel P Gubbels, Michael S Hildebrand, Stephen S Newton, John A Chiorini, Giovanni Di Pasquale, Richard JH Smith

Journal article  |  2011  |  Hearing Research

DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Nonsyndromic Autosomal Dominant Hearing Loss

Michael S Hildebrand, Matias Morin, Nicole C Meyer, Fernando Mayo, Silvia Modamio-Hoybjor, Angeles Mencia, Leticia Olavarrieta, Carmelo Morales-Angulo, Carla J Nishimura, Heather Workman, Adam P DeLuca, Ignacio del Castillo, Kyle R Taylor, Bruce Tompkins, Corey W Goodman, Isabelle Schrauwen, Maarten Van Wesemael, K Lachlan, A Eliot Shearer, Terry A Braun, et al.

Journal article  |  2011  |  Human Mutation

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)

Jing Zheng, Katharine K Miller, Tao Yang, Michael S Hildebrand, A Eliot Shearer, Adam P DeLuca, Todd E Scheetz, Jennifer Drummond, Steve E Scherer, P Kevin Legan, Richard J Goodyear, Guy P Richardson, Mary Ann Cheatham, Richard J Smith, Peter Dallos

Journal article  |  2011  |  Proceedings of the National Academy of Sciences of the United States of America

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, Hans-Martin Pogoda, Naseebullah Kakar, Simon von Ameln, Nicolas Grillet, Michael S Hildebrand, Zubair M Ahmed, Gudrun Nuernberg, Muhammad Ansar, Sulman Basit, Qamar Javed, Robert J Morell, Nabilah Nasreen, A Eliot Shearer, Adeel Ahmad, Kimia Kahrizi, Rehan S Shaikh, Rana A Ali, et al.

Journal article  |  2011  |  American Journal of Human Genetics

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Nikoletta Charizopoulou, Andrea Lelli, Margit Schraders, Kausik Ray, Michael S Hildebrand, Arabandi Ramesh, CR Srikumari Srisailapathy, Jaap Oostrik, Ronald JC Admiraal, Harold R Neely, Joseph R Latoche, Richard JH Smith, John K Northup, Hannie Kremer, Jeffrey R Holt, Konrad Noben-Trauth

Journal article  |  2011  |  Nature Communications

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Katherine R Smith, Catherine J Bromhead, Michael S Hildebrand, A Eliot Shearer, Paul J Lockhart, Hossein Najmabadi, Richard J Leventer, George McGillivray, David J Amor, Richard J Smith, Melanie Bahlo

Journal article  |  2011  |  Genome Biology

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

A Eliot Shearer, Adam P DeLuca, Michael S Hildebrand, Kyle R Taylor, Jose Gurrola, Steve Scherer, Todd E Scheetz, Richard JH Smith

Journal article  |  2010  |  Proceedings of the National Academy of Sciences of the United States of America

Mutations in TMC1 Are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population

Michael S Hildebrand, Kimia Kahrizi, Catherine J Bromhead, A Eliot Shearer, Jennifer A Webster, Hossein Khodaei, Rezvan Abtahi, Niloofar Bazazzadegan, Mojgan Babanejad, Nooshin Nikzat, William J Kimberling, Dietrich Stephan, Patrick LM Huygen, Melanie Bahlo, Richard JH Smith, Hossein Najmabadi

Journal article  |  2010  |  Annals of Otology, Rhinology and Laryngology

A Novel Mutation in COCH-Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss

Michael S Hildebrand, Luke Gandolfo, A Eliot Shearer, Jennifer A Webster, Maren Jensen, William J Kimberling, Dietrich Stephan, Patrick LM Huygen, Richard JH Smith, Melanie Bahlo

Journal article  |  2010  |  Laryngoscope

Genetic male infertility and mutation of CATSPER ion channels

Michael S Hildebrand, Matthew R Avenarius, Marc Fellous, Yuzhou Zhang, Nicole C Meyer, Jana Auer, Catherine Serres, Kimia Kahrizi, Hossein Najmabadi, Jacques S Beckmann, Richard JH Smith

Journal article  |  2010  |  European Journal of Human Genetics

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

William J Kimberling, Michael S Hildebrand, A Eliot Shearer, Maren L Jensen, Jennifer A Halder, Karmen Trzupek, Edward S Cohn, Richard G Weleber, Edwin M Stone, Richard JH Smith

Journal article  |  2010  |  Genetics in Medicine

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

MS Hildebrand, NP Thorne, CJ Bromhead, K Kahrizi, JA Webster, Z Fattahi, M Bataejad, WJ Kimberling, D Stephan, H Najmabadi, M Bahlo, RJH Smith

Journal article  |  2010  |  Clinical Genetics

miRNA Mutations Are Not a Common Cause of Deafness

Michael S Hildebrand, P Dane Witmer, Shunbin Xu, Stephen S Newton, Kimia Kahrizi, Hossein Najmabadi, David Valle, Richard JH Smithl

Journal article  |  2010  |  American Journal of Medical Genetics

Genetic Sensorineural Hearing Loss

MS Hildebrand, undefined Husein, undefined Smith

Book Chapter  |  2010

A Contemporary Review of AudioGene Audioprofiling: A Machine-Based Candidate Gene Prediction Tool for Autosomal Dominant Nonsyndromic Hearing Loss

Michael S Hildebrand, Adam P DeLuca, Kyle R Taylor, David P Hoskinson, In Ae Hur, Dylan Tack, Sarah J McMordie, Patrick LM Huygen, Thomas L Casavant, Richard JH Smith

Journal article  |  2009  |  Laryngoscope

Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

Nicolas Grillet, Martin Schwander, Michael S Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer A Webster, Kimia Kahrizi, Hossein Najmabadi, William J Kimberling, Dietrich Stephan, Melanie Bahlo, Tim Wiltshire, Lisa M Tarantino, Peter Kuhn, Richard JH Smith, Ulrich Mueller

Journal article  |  2009  |  American Journal of Human Genetics

Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

Matthew R Avenarius, Michael S Hildebrand, Yuzhou Zhang, Nicole C Meyer, Luke LH Sinith, Kimia Kahrizi, Hossein Najmabadi, Richard JH Smith

Journal article  |  2009  |  American Journal of Human Genetics

Mutations in the First MyTH4 Domain of MY015A Are a Common Cause of DFNB3 Hearing Loss

A Eliot Shearer, Michael S Hildebrand, Jennifer A Webster, Kimia Kahrizi, Nicole C Meyer, Khadijeh Jalalvand, Sanaz Arzhanginy, William J Kimberling, Dietrich Stephan, Melanie Bahlo, Richard JH Smith, Hossein Najmabadi

Journal article  |  2009  |  Laryngoscope

A Novel Splice Site Mutation in the RDX Gene Causes DFNB24 Hearing Loss in an Iranian Family

A Eliot Shearer, Michael S Hildebrand, Catherine J Bromhead, Kimia Kahrizi, Jennifer A Webster, Batool Azadeh, William J Kimberling, Ali Anousheh, Arash Nazeri, Dietrich Stephan, Hossein Najmabadi, Richard JH Smith, Melanie Bahlo

Journal article  |  2009  |  American Journal of Medical Genetics. Part A

Mutation in the COCH Gene Is Associated With Superior Semicircular Canal Dehiscence

Michael S Hildebrand, Dylan Tack, Adam DeLuca, In Ae Hur, Jana M Van Rybroek, Sarah J McMordie, Ann Muilenburg, David P Hoskinson, Guy Van Camp, Myles L Pensak, Ian S Storper, Patrick LM Huygen, Thomas L Casavant, Richard JH Smith

Journal article  |  2009  |  American Journal of Medical Genetics. Part A

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus

Michael S Hildebrand, Dylan Tack, Sarah J McMordie, Adam DeLuca, In Ae Hur, Carla Nishimura, Patrick Huygen, Thomas L Casavant, Richard JH Smith

Journal article  |  2008  |  Genetics in medicine : official journal of the American College of Medical Genetics

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus

MS Hildebrand, D Tack, SJ McMordie, A DeLuca, IA Hur, C Nishimura, P Huygen, TL Casavant, RJH Smith

Journal article  |  2008  |  Genetics in Medicine

A catechol-O-methyltransferase that is essential for auditory function in mice and humans

Xin Du, Martin Schwander, Eva Marie Y Moresco, Pia Viviani, Claudia Haller, Michael S Hildebrand, Kwang Pak, Lisa Tarantino, Amanda Roberts, Heather Richardson, George Koob, Hossein Najmabadi, Allen F Ryan, Richard JH Smit, Ulrich Mueller, Bruce Beutler

Journal article  |  2008  |  Proceedings of the National Academy of Sciences of the United States of America

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1

MS Hildebrand, JL Sorensen, M Jensen, WJ Kimberling, RJH Smith

Journal article  |  2008  |  American Journal of Medical Genetics. Part A

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WTS1

Michael S Hildebrand, Jessica L Sorensen, Maren Jensen, Willam J Kimberling, Richard JH Stnith

Journal article  |  2008  |  American journal of medical genetics. Part A

A novel splice site mutation in EYA4 causes DFNA10 hearing loss (vol 143, pg 1599, 2007)

Michael S Hildebrand, D Coman, T Yang, RJ Gardner, E Rose, RJ Smith, M Bahlo, HH Dahl

Journal article  |  2008  |  American Journal of Medical Genetics Part A

Advances in molecular and cellular therapies for hearing loss

Michael S Hildebrand, Stephen S Newton, Samuel P Gubbels, Abraham M Sheffield, Amit Kochhar, Michelle G de Silva, Hans-Henrik M Dahl, Scott D Rose, Mark A Behlke, Richard JH Smith

Journal article  |  2008  |  Molecular Therapy

Advances in Molecular and Cellular Therapies for Hearing Loss.

Michael S Hildebrand, Stephen S Newton, Samuel P Gubbels, Abraham M Sheffield, Amit Kochhar, Michelle G de Silva, Hans-Henrik M Dahl, Scott D Rose, Mark A Behlke, Richard Jh Smith

Journal article  |  2008  |  Molecular therapy : the journal of the American Society of Gene Therapy

Development of effective therapeutics for hearing loss has proven to be a slow and difficult process, evidenced by the lack of res..

Molecular characterization of a novel x-linked syndrome involving developmental delay and deafness

Michael S Hildebrand, Michelle G de Silva, Tiong Yang Tan, Elizabeth Rose, Carla Nishimura, Tanya Tolmachova, Joanne M Hulett, Susan M White, Jeremy Silver, Melanie Bahlo, Richard JH Smith, Hans-Henrik M Dahl

Journal article  |  2007  |  American Journal of Medical Genetics

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

Michael S Hildebrand, David Coman, Tao Yang, RJ McKinlay Gardner, Elizabeth Rose, Richard JH Smith, Melanie Bablo, Hans-Henrik M Dahl

Journal article  |  2007  |  American Journal of Medical Genetics

Clinical aspects of hereditary hearing loss

Amit Kochhar, Michael S Hildebrand, Richard JH Smith

Journal article  |  2007  |  Genetics in Medicine

Gene expression profiling analysis of the inner ear

Michael S Hildebrand, Michelle G de Silva, Tuomas Klockars, Colleen A Campbell, Richard JH Smith, Hans-Henrik M Dahl

Journal article  |  2007  |  Hearing Research

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

MS Hildebrand, undefined Coman, undefined Yang, undefined Gardner, undefined Rose, undefined Smith, undefined Bahlo, H Dahl

Journal article  |  2007  |  American Journal of Medical Genetics. Part A

Gene expression profiling analysis of the inner ear.

undefined Klockars, MG de Silva, T Klockars, CA Campbell, RJH Smith, H Dahl

Journal article  |  2007  |  Hearing Research

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

MS Hildebrand, undefined de Silva, undefined Tan, undefined Rose, undefined Nishimura, undefined Tolmachova, undefined Hulett, undefined White, undefined Silver, undefined Bahlo, undefined Smith, H Dahl

Journal article  |  2007  |  American Journal of Medical Genetics. Part A

Cochlear implants for DFNA17 deafness

Michael S Hildebrand, Michelle G de Silva, RJ McKinlay Gardner, Elizabeth Rose, Carolyn A de Graaf, Melanie Bahlo, Hans-Henrik M Dahl

Journal article  |  2006  |  Laryngoscope

Gene expression changes during step-wise differentiation of embryonic stem cells along the inner ear hair cell pathway

Michelle G De Silva, Michael S Hildebrand, Helen Christopoulos, Michelle R Newman, Katrina Bell, Matthew Ritchie, Gordon K Smyth, Hans-Henrik M Dahl

Journal article  |  2006  |  Acta Oto-Laryngologica

Genetic aspects of hearing loss

HH Dahl, S Manji, M De Silva, M Peverelli, M Hildebrand

Journal article  |  2006  |  Acoustics Australia

Cochlear implants for DFNA17 deafness.

MS Hildebrand, undefined de Silva, undefined Gardner, undefined Rose, undefined de Graaf, undefined Bahlo, H Dahl

Journal article  |  2006  |  Laryngoscope

Survival of partially differentiated mouse embryonic stem cells in the scala media of the guinea pig cochlea

MS Hildebrand, HHM Dahl, J Hardman, B Coleman, RK Shepherd, MG de Silva

Journal article  |  2005  |  Journal of the Association for Research in Otolaryngology

Expression of the carrier protein apolipoprotein D in the mouse inner ear

MS Hildebrand, MG de Silva, T Klockars, CA Solares, K Hirose, JD Smith, SC Patel, HHM Dahl

Journal article  |  2005  |  Hearing Research

Characterisation of DRASIC in the mouse inner ear

MS Hildebrand, MG de Silva, T Klockars, E Rose, M Price, RJH Smith, WT McGuirt, H Christopoulos, C Petit, HHM Dahl

Journal article  |  2004  |  Hearing Research

Characterisation of DRASIC in the mouse inner ear

MS Hildebrand, undefined de Silva, undefined Klockars, undefined Rose, undefined Price, undefined Smith, undefined McGuirt, undefined Christopoulos, undefined Petit, H Dahl

Journal article  |  2004  |  Hearing Research