Translational Neurogenetics Laboratory

Research Overview

The focus of this group is to understand the basic neurobiology of human epilepsy, speech disorders and deafness, and translate this knowledge into improved treatment of patients. This group is part of the Epilepsy Research Centre at the Austin Hospital academic node.

Staff

  • A/Professor Michael Hildebrand BBiomed Sci, BSc (Hons), PhD - Laboratory Head
  • John Damiano BSc (Hons) - Senior Research Assistant
  • Matthew Coleman BSc (Hons) - Research Assistant
  • Joshua Reid BSc - Technical Assistant
  • Zimeng (Daisy) Ye - PhD student
  • Tim Green BSc - Honours student
  • Thi Minh Vu Hoang – Undergraduate student, AMGEN Scholar

Collaborators

  • Professor Samuel Berkovic, Epilepsy Research Centre, University of Melbourne
  • Professor Ingrid Scheffer, Epilepsy Research Centre, University of Melbourne
  • Associate Professor Angela Morgan, Murdoch Children's Research Institute
  • Professor Melanie Bahlo, Walter and Eliza Hall Institute
  • Professor Patrick Kwan, Royal Melbourne Hospital
  • Associate Professor Heather Mefford, University of Washington

Funding

  • 2020-2023 Epilepsy Foundation, Australian Epilepsy Research Fund Grant Scheme, A Clinical Liquid Biopsy to Diagnose Epilepsy, Epilepsy Research Centre, University of Melbourne, Australia ($224,640 AUD), CIA: A/Prof. Michael S. Hildebrand, CIB Prof. Samuel Berkovic, CIC Prof. Melanie Bahlo, CID Prof. Ingrid Scheffer, CIE A/Prof. Richard Leventer
  • 2019 Austin Medical Research Foundation; Research Grant; Droplet digital PCR to detect low- level CNS involvement with lymphoma; $25,000 AUD; CIs: Dr Chun Y Fong, Dr Joel Wright, A/Prof. Michael S Hildebrand, Ms Zimeng Ye, Dr Allison Barraclough
  • 2019   Sir Edward Dunlop Medical Research Foundation Grant, Somatic mutation as a cause of severe focal epilepsy. Epilepsy Research Centre, University of Melbourne, Australia ($20,000 AUD) CIA: A/Prof. Michael S Hildebrand
  • 2018 University of Melbourne, Faculty of Medicine, Dentistry and Health Research Fellowship, Exploring the genetic factors underlying epilepsies and speech disorders Epilepsy Research Centre, University of Melbourne, Australia ($110,000 AUD) CIA: Dr. Michael S. Hildebrand
  • 2017 University of Melbourne, Faculty of Medicine, Dentistry and Health Sciences Large    Equipment Grant, Ultra-sensitive detection of biomarkers for severe neurological brain disorders Epilepsy Research Centre, University of Melbourne, Australia ($59,997 AUD) CIA: Dr. Michael S. Hildebrand
  • 2014-2016 National Health and Medical Research Council (NHMRC), Project Grant   APP1067081, Unravelling the genetics of the common epilepsies using   discordant monozygotic twins, Epilepsy Research Centre, University of  Melbourne, Australia and Duke Centre for Human Genome Variation,  Duke University, USA ($653,230 AUD) CIA: Prof. Samuel F. Berkovic, CIB: Dr. Michael S Hildebrand, CIC: Prof. David B. Goldstein
  • 2014-2018  National Health and Medical Research Council (NHMRC), R.D. Wright   Career Development Fellowship APP1063799, Genetics of epilepsies  and speech disorders, Epilepsy Research Centre, University of Melbourne, Australia ($404,884 AUD) CIA: Dr. Michael S Hildebrand
  • 2015-2017 National Health and Medical Research Council (NHMRC), Project Grant   APP1079058, Exploring somatic mutation in focal epilepsies, Epilepsy Research Centre and Royal Melbourne Hospital, University of Melbourne, Australia, and University of Washington, Seattle, USA
    ($684,492 AUD) CIA: Dr. Michael S Hildebrand, CIB: Assist. Prof. Heather C. Mefford, CIC: Prof. Patrick Kwan
  • 2015-2017 March of Dimes, General Research Grant FY15-3388, Elucidating genetic contributions to speech and language disorders, Epilepsy
    Research Centre and Murdoch Childrens Research Institute, University of Melbourne, Australia ($200,000 AUD) CIA: A/Prof. Angela T Morgan, Co-CI Dr. Michael S. Hildebrand
  • 2016 Sir Edward Dunlop Medical Research Foundation Grant, Zinc and  seizures, Epilepsy Research Centre, University of Melbourne, Australia
    ($20,000 AUD) CIA: Dr. Michael S Hildebrand
  • 2017-2021 National Health and Medical Research Council (NHMRC) Centre for Research Excellence in Speech and Language Neurobiology (CRE- SLANG), Murdoch Childrens Research Institute and University of Melbourne, Australia ($2.5M) CIA: A/Prof. Angela Morgan, CIB: Prof. Ingrid Scheffer, CIC: Michael S Hildebrand, CID: Prof. Melanie Bahlo, CIE Prof. Alan Connelly, CIF: Prof. David Amor, CIG: Prof. Sheena
    Reilly, CIH: Prof. Simon Fisher, CII: Dr. Frederique Liegeois
  • 2017-2019 National Health and Medical Research Council (NHMRC), Project Grant APP1127144, Neurobiology of childhood speech disorders: improving diagnosis, prognosis & clinical care, Murdoch Childrens Research Institute and Epilepsy Research Centre, University of Melbourne,  
    Australia ($994,575 AUD) CIA: A/Prof. Angela Morgan, CIB: Dr.  Michael S Hildebrand, CIC: Prof. Simon Fisher, CID: Dr. Frederique Liegeois
  • 2017-2020 National Health and Medical Research Council (NHMRC), Project Grant APP1129054, Detection of Somatic Mutations in Sporadic Epilepsies,  Epilepsy Research Centre, University of Melbourne, Australia
    ($1,256,165 AUD) CIA: Prof. Samuel F Berkovic, CIB: Dr.  Michael S Hildebrand, CIC: Dr. Slave Petrovski, CID: Dr. Snezana Maljevic

Research Publications

  • Hildebrand MS*, Scerri TS*, Jackson VE*, Van Reyk O, Coleman MC, Braden R, Turner S, Rigbye KA, Boys A, Barton S, Webster R, Fahey M, Saunders K, Parry-Fielder B, Paxton G, Hayman M, Coman D, Goel H, Baxter A, Ma A, Davis N, Reilly S, Delatycki M, Liégeois F, Connelly A, Gecz J, Fisher SE, Amor DJ, Scheffer IE*, Bahlo M*, Morgan AT*. Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation. Neurology. 14th November [Accepted] (2019)
  • Damiano JA, Deng L, Li W, Burgess R, Schneider AL, Crawford NW, Buttery J,Gold M, Richmond P, Macartney KK, Hildebrand MS, Scheffer IE, Wood N, Berkovic SF. SCN1A Variants in vaccine-related febrile seizures: A prospective study. Ann Neurol. 22nd November [Epub ahead of print] (2019)
  • Johnson JL, Stoica L, Liu Y, Zhu PJ, Bhattacharya A, Buffington SA, Huq R, Eissa NT, Larsson O, Porse BT, Domingo D, Nawaz U, Carroll R, Jolly L, Scerri TS, Kim HG, Brignell A, Coleman MJ, Braden R, Kini U, Jackson V, Baxter A, Bahlo M, Scheffer IE, Amor DJ, Hildebrand MS, Bonnen PE, Beeton C, Gecz J, Morgan AT, Costa-Mattioli M. Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response. Neuron. 104(4):665-679.e8 (2019)
  • Ware TL, Huskins SR, Grinton BE, Liu YC, Bennett MF, Harvey M, McMahon J, Andreopoulos-Malikotsinas D, Bahlo M, Howell KB, Hildebrand MS, Damiano JA, Rosenfeld A, Mackay MT, Mandelstam S, Leventer RJ, Harvey AS, Freeman JL, Scheffer IE, Jones DL, Berkovic SF. Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania. Epilepsia Open 4(3):504-510 (2019)
  • Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain 142(9):2617-2630 (2019)
  • Beal B, Hayes I, McGaughran J, Amor DJ, Miteff C, Jackson V, van Reyk O,Subramanian G, Hildebrand MS, Morgan AT, Goel H. Expansion of phenotype of DDX3X syndrome: six new cases. Clin Dysmorphol. 28(4):169-174 (2019)
  • Khan K, Zech M, Morgan AT, Skorvanek M, Amor DJ, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havránková P, FečíkováA, StromTM, Han V, DosekovaP, GdovinovaZ, Laccone F, Jameel M, Mooney MR, Baig SM, JechR, Davis EE, KatsanisN, Winkelmann J. Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genet Med. 21(11):2532-2542 (2019)
  • Ye Z, McQuillan L, Poduri A, Green TE, Matsumoto N, Mefford HC, Scheffer IE, Berkovic SF, Hildebrand MS. Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. Epilepsy Res.155:106161 (2019)
  • Eising E, Carrion-Castillo A, Vino A, Strand EA, Jakielski KJ, Scerri TS, Hildebrand MS, Webster R, Ma A, Mazoyer B, Francks C, Bahlo M, Scheffer IE, Morgan AT, Shriberg LD, Fisher SE. A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Mol Psychiatry. 24(7):1065-1078 (2019)
  • Lerche H, Berkovic SF, Lowenstein DH; … Hildebrand MS … EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project. Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. N Engl J Med. 380(16):e24 (2019)
  • Liégeois FJ, Turner SJ, Mayes A, Bonthrone AF, Boys A, Smith L, Parry-Fielder
  • B, Mandelstam S, Spencer-Smith M, Bahlo M, Scerri TS, Hildebrand MS, Scheffer IE, Connelly A, Morgan AT. Dorsal language stream anomalies in an inherited speech disorder. Brain. 142(4):966-977 (2019)
  • Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM,Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. Brain 142(1):59-69 (2019)
  • Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. Neurology 92(2):e96-e107 (2019)
  • Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S. Development of a rapid functional assay that predicts GLUT1 disease severity. Neurol Genet 4(6):e297 (2018)
  • Brignell A, St John M, Boys A, Bruce A, Dinale C, Pigdon L, Hildebrand MS, Amor DJ, Morgan AT. Characterization of speech and language phenotype in children with NRXN1 deletions. Am J Med Genet B Neuropsychiatr Genet. 177(8):700-708 (2018)
  • Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. Genet Med. Sep 24. [Epub ahead of print] (2018)
  • Kinay D, Oliver KL, Tüzün E, Damiano JA, Ulusoy C, Andermann E, Hildebrand MS, Bahlo M, Berkovic SF. Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy. Epilepsia. 59(8):e125-e129 (2018)
  • Hildebrand MS*, Harvey AS*, Malone S*, Damiano JA, Do H, Ye Z, McQuillan L, Maixner W, Kalnins R, Nolan B, Wood M, Ozturk E, Jones NC, Gillies G, Pope K, Lockhart PJ, Dobrovic A, Leventer RJ, Scheffer IE, Berkovic SF. Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome. Neurol Genet. 4(3):e236 (2018)
  • Lopez JA, Noori T, Minson A, Li Jovanoska L, Thia K, Hildebrand MS, Akhlaghi H, Darcy PK, Kershaw MH, Brown NJ, Grigg A, Trapani JA, Voskoboinik I. Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing. Front Immunol. 15(9):529 (2018)
  • Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T,Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA. Gain-of-function HCN2 variants in genetic epilepsy. Hum Mutat. 39(2):202-209 (2018)
  • Myers KA, McGlade A, Neubauer BA, Lal D, Berkovic SF, Scheffer IE, Hildebrand MS. KANSL1 pathogenic variants are not a common cause of “benign” focal epilepsy syndromes of childhood. PLoS One. 13(1):e0191546 (2018)
  • Peeraer A, Damiano JA, Bellows ST, Scheffer IE, Berkovic SF, Mullen SA, Hildebrand MS. Evaluation of GLUT1 variation in non-acquired focal epilepsy. Epilepsy Res. 133:54-57 (2017)
  • McGlade A, Myers KA, Berkovic SF, Scheffer IE, Petrovski S, Hildebrand MS. Is a microRNA binding site in PAX6 associated with Rolandic Epilepsy? Ann Clin Trans Neurol. 4(4):276-277 (2017)
  • Perucca P, Scheffer IE, Harvey AS, James PA, Lunke S, Thorne N, Gaff C, Regan
  • BM, Damiano JA, Hildebrand MS, Berkovic SF, O'Brien TJ, Kwan P. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy. Epilepsy Res. 131:1-8 (2017)
  • Damiano JA*, Do H*, Ozturk E*, Burgess R, Kalnins R, Jones NC, Dobrovic A, Berkovic SF, Hildebrand MS. Sensitive Quantitative Detection of Somatic Mosaic Mutation in “Double Cortex” Syndrome. Epileptic Disord. 19(4):450-455 (2017)
  • Myers KA, Burgess R, Afawi Z, Damiano JA, Berkovic SF, Hildebrand MS, Scheffer IE. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome. Epilepsia. 58(2):e26-e30 (2017)
  • Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, Kivity S, Afawi Z, Bleasel A, Grattan-Smith P, Grinton BE, Vears DF, Dibbens LM, Damiano J, Goldberg-Stern H, Korczyn AD, Ruzzo E, Goldstein D, Hildebrand MS, Berkovic SF, Scheffer IE. Genetic Epilepsy with Febrile Seizures Plus: Refining the spectrum of a familial epilepsy syndrome. Neurology. 89(12):1210-121 (2017)
  • Reid CA, Hildebrand MS, Mullen SA, Hildebrand JM, Berkovic SF, Petrou S.Synaptic Zn(2+) and febrile seizure susceptibility. Br J Pharmacol. 174(2):119-125 (2017)
  • Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS. Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum. Epilepsia. 58(3):e40-e43 (2017)
  • Epi4K consortium; Epilepsy Phenome/Genome Project; … Hildebrand MS…. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Lancet Neurol. 16(2):135-143 (2017)
  • Rigbye KA, van Hasselt PM, Burgess R, Damiano JA, Mullen SA, Petrovski S, Puranam RS, van Gassen KLI, Gecz J, Scheffer IE, McNamara JO, Berkovic SF, Hildebrand MS. Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? Epilepsy Res. Oct 24 [Epub ahead of print] (2016)
  • Reid CA, Hildebrand MS, Mullen SA, Hildebrand JM, Berkovic SF, Petrou S. Synaptic Zn(2+) and febrile seizure susceptibility. Br J Pharmacol. Oct 23 [Epub ahead of print] (2016)
  • Liégeois FJ, Hildebrand MS, Bonthrone A, Turner SJ, Scheffer IE, Bahlo M, Connelly A, Morgan AT. Early neuroimaging markers of FOXP2 intragenic deletion. Sci Rep. 13(6):35192 (2016)
  • Hildebrand MS*, Griffin NG*, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL. Mutations of the sonic hedgehog pathway underlie hypothalamic hamartoma with gelastic epilepsy. Am J Hum Genet. 99(2):423-9 (2016)
  • ANCL Gene Discovery Consortium, Hildebrand MS. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs Disease). Neurology. 87(6):579-84 (2016)
  • Liu Y-C*, Lee JWA*, Bellows ST, Damiano JA, Mullen SA, Ryan MM, Leventer RJ, Freeman JL, Mackay MT, Hayman M, Rodriquez-Casero V, Subramanian G, Webster R, Sadleir LG, Berkovic SF, Bahlo M*, Scheffer IE*, Hildebrand MS*. Evaluation of non-coding variation in GLUT1 deficiency. Dev Med Child Neurol. E-pub June 6th doi: 10.1111/dmcn.13163 (2016)
  • Hildebrand MS*, Myers CT*, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC. A targeted resequencing gene panel for focal epilepsy. J Neurol. 86(17):1605-12 (2016)
  • Taylor KR, Booth KT, Azaiez H, Sloan CM, Kolbe DL, Glanz EN, Shearer AE, DeLuca AP, Anand VN, Hildebrand MS, Simpson AC, Eppsteiner RW, Scheetz TE, Braun TA, Huygen PL, Smith RJ, Casavant TL. Audioprofile Surfaces: The 21st Century Audiogram. Ann Otol Rhinol Laryngol. 125(5):361-8 (2016)
  • Hildebrand MS*, Phillips AM*, Mullen SA*, Adlard PA, Hardies K, Damiano JA, Wimmer V, Bellows ST, McMahon JM, Burgess R, Hendrickx R, Weckhuysen S, Suls A, De Jonghe P, Scheffer IE, Petrou S, Berkovic SF, Reid CA. Loss of synaptic Zn2+ transporter function increases risk of febrile seizures. Sci Rep. 5:17816 (2015)
  • Damiano JA, Mullen SA, Hildebrand MS, Bellows ST, Lawrence KM, Arsov T, Dibbens L, Major H, Dahl HHM, Mefford HC, Darbro BW, Scheffer IE, Berkovic SF. Evaluation of multiple putative risk alleles within the 15q13.3 region for Genetic Generalized Epilepsy. Epilepsy Res. 117:70-3 (2015)
  • Hildebrand MS, Tankard R, Gazina EV, Damiano JA, Lawrence KM, Dahl HHM, Regan BR, Shearer AE, Smith RJH, Marini C, Guerrini R, Labate A, Gambardella A, Tinuper P, Lichetta L, Baldassari S, Bisulli F, Pippucci T, Scheffer IE, Reid CA, Petrou S, Bahlo M, Berkovic SF. PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy. Ann Clin Trans Neurol. 2(8):821-30 (2015)
  • Sadleir LG,  Paterson S, Smith KR, Redshaw N, Ranta A, Kalnins R, Berkovic SF, Bahlo M, Hildebrand MS, Scheffer IE. Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome. Epilepsy Res. 114:98-105 (2015)
  • Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Hermann H, Berkovic SF, Hildebrand MS. Mutation of the Nuclear Lamin Gene LMNB2 in Progressive Myoclonus Epilepsy with Early Ataxia. Hum Mol Genet. 24(16):4483-90 (2015)
  • Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. PLoS Genet.11(3):e1005137 (2015)
  • Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M,  Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 47(1):39-46 (2015)
  • Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. Am J Hum Genet. 95(4):445-53 (2014)
  • Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M,Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; The 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF,Beckmann JS; The EPICURE Consortium, The EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet. 23(22):6069-80 (2014)
  • Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Oliver KL, Dahl HHM, Scheffer IE, Berkovic SF. Glucose metabolism transporters and epilepsy: only GLUT1 has an established role. Epilepsia. 55(2):e18-21 (2014)
  • Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Scheffer IE, Berkovic SF. Does variation in NIPA2 contribute to genetic generalized epilepsy? Hum Genet. Jan 10, 133(5):673-4 (2014)
  • Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM.et al.  Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain. 136(Pt 10):3140-50 (2013)
  • Carvill GL, Regan BM, Yendle SC, O’Roak BJ, Khan A, Sadleir LG, Tsai M-H, Turner SJ, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Scheffer IE, Mefford HC. Epilepsy-aphasia spectrum disorders are caused by mutations in GRIN2A. Nat Genet. 45(9): 1073-6 (2013)
  • Turner SJ*, Hildebrand MS*, Block S, Damiano J, Fahey M, Reilly S, Bahlo M, Scheffer IE, Morgan AT. Small intragenic deletion in FOXP2 associated with childhood apraxia of speech. Am J Med Genet Part A. 161(9):2321-6 (2013) * Co-first authors
  • Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ. Advancing genetic testing for deafness with genomic technology. J Med Genet. 50(9):627-34 (2013)
  • Hildebrand MS, Dahl HHM, Damiano J, Smith RJH, Scheffer IE, Berkovic SF. Recent advances in the molecular genetics of epilepsy. J Med Genet. 50(5):271-9 (2013)
  • Reznikov LR, Dong Q, Chen JH, Moninger TO, Park JM, Zhang Y, Du J, Hildebrand MS, Smith RJ, Randak CO, Stoltz DA, Welsh MJ. CFTR-deficient pigs display peripheral nervous system defects at birth. Proc Natl Acad Sci U S A. 110(8):3083-8 (2013)
  • Taylor KR, DeLuca AP, Shearer AE, Goodman CW, Tompkins BW, Scheetz TE, Hildebrand MS, Huygen PLM, Smith RJH, Braun TA, Casavant TL. AudioGene: Machine-based prediction of genetic factors involved in hearing impairment. Hum Mutat. 34(4):539-45 (2012)
  • Shearer AE, Hildebrand MS, Ravi H, Joshi S, Guiffre AC, Novak B, Happe S, Le Proust EM, Smith RJH. Pre-capture Multiplexing Improves Efficiency and Cost-Effectiveness of Targeted Genomic Enrichment. BMC Genomics.13(1):618 (2012)
  • Nakano Y, Jahan I, Bonde G, Sun X, Hildebrand MS, Engelhardt JF, Smith RJH, Cornell RA, Fritzsch B, Bánfi B. A Mutation in the Srrm4 Gene Causes Alternative Splicing Defects and Deafness in the Bronx Waltzer Mouse. PloS Genet. 8(10):e1002966 (2012)
  • Eppsteiner RW, Shearer AE, Hildebrand MS, Deluca AP, Haihong J, Dunn CC,  Black-Ziegelbein EA, Casavant TL, Scheetz TE, Scherer S, Hansen MR, Casavant TL, Smith RJ. Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. Hear Res. 292(1-2):51-8 (2012)
  • Eppsteiner RW, Shearer AE, Hildebrand MS, Taylor KR, Deluca AP, Scherer S, Huygen P, Scheetz TE, Braun TA, Casavant TL, Smith RJ. Using the phenome and genome to improve genetic diagnosis for deafness. Otolaryngol Head Neck Surg. 147(5):975-7 (2012)
  • Shearer AE, Hildebrand MS, Smith RJH. Solution-based targeted genomic enrichment for precious DNA samples. BMC Biotech. 12:20 (2012)
  • Shearer AE, Hildebrand MS, Sloan CM, Smith RJH. Deafness in the genomic era. Review. Hear Res. 282(1-2):1-9 (2011)
  • Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJH, Bahlo M. Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol. 12(9):R85 (2011)
  • Sheffield AM, Gubbels SP, Hildebrand MS, Newton SS, Chiorini JA, Di Pasquale G, Smith RJH. Viral vector tropism for supporting cells in the developing murine cochlea. Hear Res. 277(1-2):28-36 (2011)
  • Hildebrand MS*, Morin M*, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencia A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJH, Moreno-Pelayo MA. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 32(7):825-34 (2011) * Co-first authors
  • Zheng J, Miller KK, Yang T, Hildebrand MS, Shearer AE, DeLuca AP, Scheetz TE, Drummond J, Scherer S, Legan PK, Goodyear R, Richardson G, Cheatham MA, Smith RJH, Dallos P. CEACAM16 – a protein produced by cochlear outer hair cells – interacts with α-tectorin and is mutated in DFNA4 hearing loss. Proc Natl Acad Sci U S A. 108(10):4218-23 (2011)
  • Charizopoulou N, Lelli A, Schraders M, Ray K, Hildebrand MS, Ramesh A, Srisailapathy S, Admiraal RJC, Neely HR, Latoche JR, Smith RJH, Northup JK, Kremer H, Holt JR, and Noben-Trauth K. Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. Nat Commun.2:201. doi: 10.1038/ncomms1200 (2011)
  • Borck G, Rehman AU, Lee K, Pogoda H-M, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nurnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Rana AA, Kahn SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan D, Schiller M, Bahlo M, Najmabadi H, Gillespie PG, Nurnberg P, Wollnik B, Riazuddin S, Smith RJH, Ahmad W, Muller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet. 88(2):127-37 (2011).