Rna Interference and Retigabine Therapy Protect Against Hereditary Hearing Loss

Audioprofile surfaces: The 21st century audiogram

KR Taylor, KT Booth, H Azaiez, CM Sloan, DL Kolbe, EN Glanz, AE Shearer, AP DeLuca, VN Anand, MS Hildebrand, AC Simpson, RW Eppsteiner, TE Scheetz, TA Braun, PLM Huygen, RJH Smith, TL Casavant

2016-05-01

Objective: To present audiometric data in 3 dimensions by considering age as an addition dimension. Methods: Audioprofile surfaces..

16p11.2 600 kb duplications confer risk for typical and atypical rolandic epilepsy

EM Reinthaler, D Lal, S Lebon, MS Hildebrand, HHM Dahl, BM Regan, M Feucht, H Steinböck, B Neophytou, GM Ronen, L Roche, U Gruber-Sedlmayr, J Geldner, E Haberlandt, P Hoffmann, S Herms, C Gieger, M Waldenberger, A Franke, M Wittig

2014-11-15

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a comple..

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

MS Hildebrand, JA Damiano, SA Mullen, ST Bellows, KL Oliver, HHM Dahl, IE Scheffer, SF Berkovic

2014-02-01

The availability of glucose, and its glycolytic product lactate, for cerebral energy metabolism is regulated by specific brain tra..

Does variation in NIPA2 contribute to genetic generalized epilepsy?

MS Hildebrand, JA Damiano, SA Mullen, ST Bellows, IE Scheffer, SF Berkovic

2014-01-01

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

GL Carvill, BM Regan, SC Yendle, BJ O'Roak, N Lozovaya, N Bruneau, N Burnashev, A Khan, J Cook, E Geraghty, LG Sadleir, SJ Turner, MH Tsai, R Webster, R Ouvrier, JA Damiano, SF Berkovic, J Shendure, MS Hildebrand, P Szepetowski

2013-09-01

Epilepsy-aphasia syndromes (EAS) are a group of rare, severe epileptic encephalopathies of unknown etiology with a characteristic ..

Advancing genetic testing for deafness with genomic technology

AE Shearer, EA Black-Ziegelbein, MS Hildebrand, RW Eppsteiner, H Ravi, S Joshi, AC Guiffre, CM Sloan, S Happe, SD Howard, B Novak, AP DeLuca, KR Taylor, TE Scheetz, TA Braun, TL Casavant, WJ Kimberling, EM LeProust, RJH Smith

2013-07-29

Background: Non-syndromic hearing loss (NSHL) is the most common sensory impairment in humans. Until recently its extreme genetic ..

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

KR Taylor, AP Deluca, AE Shearer, MS Hildebrand, EA Black-Ziegelbein, VN Anand, CM Sloan, RW Eppsteiner, TE Scheetz, PLM Huygen, RJH Smith, TA Braun, TL Casavant

2013-04-01

Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a common and often progressive sensory deficit. ADNSHL displays a high de..

Recent advances in the molecular genetics of epilepsy

MS Hildebrand, HHM Dahl, JA Damiano, RJH Smith, IE Scheffer, SF Berkovic

2013-03-12

Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical p..

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, EM LeProust, RJH Smith

2012-11-14

Background: Targeted genomic enrichment (TGE) is a widely used method for isolating and enriching specific genomic regions prior t..

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

MS Hildebrand, M Morín, NC Meyer, F Mayo, S Modamio-Hoybjor, A Mencía, L Olavarrieta, C Morales-Angulo, CJ Nishimura, H Workman, AP Deluca, I del Castillo, KR Taylor, B Tompkins, CW Goodman, I Schrauwen, MV Wesemael, K Lachlan, AE Shearer, TA Braun

2011-07-01

The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehe..