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Michael S. Hildebrand
Michael S. Hildebrand
Postdoctoral Fellow, University of Melbourne
Verified email at unimelb.edu.au
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Cited by
Cited by
Year
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
GL Carvill, BM Regan, SC Yendle, BJ O'Roak, N Lozovaya, N Bruneau, ...
Nature genetics 45 (9), 1073-1076, 2013
3442013
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
AE Shearer, AP DeLuca, MS Hildebrand, KR Taylor, J Gurrola, S Scherer, ...
Proceedings of the National Academy of Sciences 107 (49), 21104-21109, 2010
3292010
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ...
Nature genetics 47 (1), 39-46, 2015
2372015
Human male infertility caused by mutations in the CATSPER1 channel protein
MR Avenarius, MS Hildebrand, Y Zhang, NC Meyer, LLH Smith, K Kahrizi, ...
The American Journal of Human Genetics 84 (4), 505-510, 2009
2352009
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
WJ Kimberling, MS Hildebrand, AE Shearer, ML Jensen, JA Halder, ...
Genetics in Medicine 12 (8), 512-516, 2010
2242010
Deafness and hereditary hearing loss overview
RJH Smith, AE Shearer, MS Hildebrand, G Van Camp
GeneReviews, 1993
2211993
Hereditary hearing loss and deafness overview
AE Shearer, MS Hildebrand, RJH Smith
GeneReviews®[Internet], 2017
2022017
Clinical aspects of hereditary hearing loss
A Kochhar, MS Hildebrand, RJH Smith
Genetics in Medicine 9 (7), 393-408, 2007
1912007
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
D Kasperavičiūtė, CB Catarino, M Matarin, C Leu, J Novy, A Tostevin, ...
Brain 136 (10), 3140-3150, 2013
1692013
Genetic male infertility and mutation of CATSPER ion channels
MS Hildebrand, MR Avenarius, M Fellous, Y Zhang, NC Meyer, J Auer, ...
European Journal of Human Genetics 18 (11), 1178-1184, 2010
1642010
Recent advances in the molecular genetics of epilepsy
MS Hildebrand, HHM Dahl, JA Damiano, RJH Smith, IE Scheffer, ...
Journal of medical genetics 50 (5), 271-279, 2013
1602013
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola II, ...
The American Journal of Human Genetics 95 (4), 445-453, 2014
1502014
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans
N Grillet, M Schwander, MS Hildebrand, A Sczaniecka, A Kolatkar, ...
The American Journal of Human Genetics 85 (3), 328-337, 2009
1362009
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
AS Allen, ST Bellows, SF Berkovic, J Bridgers, R Burgess, G Cavalleri, ...
The Lancet Neurology 16 (2), 135-143, 2017
1352017
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)
J Zheng, KK Miller, T Yang, MS Hildebrand, AE Shearer, AP DeLuca, ...
Proceedings of the National Academy of Sciences 108 (10), 4218-4223, 2011
1272011
Advancing genetic testing for deafness with genomic technology
AE Shearer, EA Black-Ziegelbein, MS Hildebrand, RW Eppsteiner, H Ravi, ...
Journal of medical genetics 50 (9), 627-634, 2013
1152013
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42
G Borck, AU Rehman, K Lee, HM Pogoda, N Kakar, S Von Ameln, ...
The American Journal of Human Genetics 88 (2), 127-137, 2011
1152011
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, ...
Journal of the Association for Research in Otolaryngology 6 (4), 341-354, 2005
1082005
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis
RW Eppsteiner, AE Shearer, MS Hildebrand, AP DeLuca, H Ji, CC Dunn, ...
Hearing research 292 (1-2), 51-58, 2012
1072012
Genetic epilepsy with febrile seizures plus: refining the spectrum
YH Zhang, R Burgess, JP Malone, GC Glubb, KL Helbig, L Vadlamudi, ...
Neurology 89 (12), 1210-1219, 2017
1052017
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