Michael S Hildebrand

Michael S Hildebrand

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Michael S Hildebrand

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

Epilepsy Res 2019 Sep 2;155:106161. Epub 2019 Jul 2.

Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2019.106161DOI Listing
September 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 Jan 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

Characterization of speech and language phenotype in children with NRXN1 deletions.

Am J Med Genet B Neuropsychiatr Genet 2018 12 25;177(8):700-708. Epub 2018 Oct 25.

Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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http://doi.wiley.com/10.1002/ajmg.b.32664
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http://dx.doi.org/10.1002/ajmg.b.32664DOI Listing
December 2018

Development of a rapid functional assay that predicts GLUT1 disease severity.

Neurol Genet 2018 Dec 6;4(6):e297. Epub 2018 Dec 6.

Florey Institute of Neuroscience and Mental Health (S.M.Z., S.A.M., S.M., E.V.G., A.M.P., G.D.J., I.E.S., C.A.R., S. Petrou.); Department of Medicine (RMH) University of Melbourne (S.M.Z., S. Petrovski, M.S.H., J.D., S. Petrou); Department of Medicine (Austin Health) (M.S.H., J.D., S.F.B., I.E.S.), University of Melbourne, Heidelberg; Department of Neurology and Epileptology (H.L., Y.G.W.), Hertie Institute for Clinical Brain Research, University of Tübingen; School of Biosciences (A.M.P.), University of Melbourne, Parkville, Australia; APHP (S.A.), Hôpital Robert Debré, Service de Neurologie Pédiatrique; Univ Paris Diderot (S.A.), Sorbonne Paris Cité, INSERM UMR1141, Paris, France; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville, Australia.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290489PMC
December 2018

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

Epilepsia 2018 08 4;59(8):e125-e129. Epub 2018 Jul 4.

Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.14506DOI Listing
August 2018

Somatic mutation in the of Sturge-Weber syndrome.

Neurol Genet 2018 Jun 1;4(3):e236. Epub 2018 May 1.

Department of Medicine (Austin Hospital) (M.S.H., J.A.D., Z.Y., L.M., I.E.S., S.F.B.), University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Childrens Research Institute (M.S.H., A.S.H., G.G., K.P., P.J.L., R.J.L.), Parkville, Victoria, Australia; Department of Paediatrics (Royal Children's Hospital) (A.S.H., G.G., K.P., P.J.L., R.J.L., I.E.S.), Department of Pathology (H.D., R.K., A.D), and Department of Medicine (Royal Melbourne Hospital) (E.O., N.C.J.), University of Melbourne, Parkville, Victoria, Australia; Department of Neurology (A.S.H., R.J.L., I.E.S.) and Department of Neurosurgery (W.M.), Royal Children's Hospital, Parkville, Victoria, Australia; Department of Neurosciences (S.M., B.N.) and Neurosurgical Department (M.W.), Lady Cilento Children's Hospital, Brisbane, Queensland, Australia; Translational Genomics and Epigenomics Laboratory (H.D., A.D.), Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia; School of Cancer Medicine (H.D., A.D.), La Trobe University, Bundoora, Victoria, Australia; Anatomical Pathology (R.K.), Austin Health, Heidelberg, Victoria, Australia; Department of Neuroscience (N.C.J.), Central Clinical School, Monash University, Victoria, Australia; and Department of Neurology (N.C.J.), The Alfred Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931068PMC
June 2018

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

PLoS One 2018 19;13(1):e0191546. Epub 2018 Jan 19.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0191546PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774806PMC
February 2018

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

Epileptic Disord 2017 Dec;19(4):450-455

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC.

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http://dx.doi.org/10.1684/epd.2017.0944DOI Listing
December 2017

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Neurology 2017 Sep 25;89(12):1210-1219. Epub 2017 Aug 25.

From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000004384DOI Listing
September 2017

Evaluation of GLUT1 variation in non-acquired focal epilepsy.

Epilepsy Res 2017 07 10;133:54-57. Epub 2017 Apr 10.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.04.007DOI Listing
July 2017

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

Ann Clin Transl Neurol 2017 04 23;4(4):276-277. Epub 2017 Mar 23.

Epilepsy Research Centre Department of Medicine University of Melbourne Austin Health Heidelberg Victoria 3084 Australia.

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http://dx.doi.org/10.1002/acn3.401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376748PMC
April 2017

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

Epilepsia 2017 03 18;58(3):e40-e43. Epub 2017 Jan 18.

Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.13666DOI Listing
March 2017

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

Epilepsy Res 2017 03 7;131:1-8. Epub 2017 Feb 7.

Departments of Medicine and Neurology, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2017.02.001DOI Listing
March 2017

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

Epilepsia 2017 02 13;58(2):e26-e30. Epub 2017 Jan 13.

Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.13649DOI Listing
February 2017

Synaptic Zn and febrile seizure susceptibility.

Br J Pharmacol 2017 01 28;174(2):119-125. Epub 2016 Nov 28.

Florey Institute for Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC, Australia.

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http://dx.doi.org/10.1111/bph.13658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5192799PMC
January 2017

Evaluation of non-coding variation in GLUT1 deficiency.

Dev Med Child Neurol 2016 Dec 6;58(12):1295-1302. Epub 2016 Jun 6.

Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Vic., Australia.

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http://dx.doi.org/10.1111/dmcn.13163DOI Listing
December 2016

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

Epilepsy Res 2016 12 25;128:48-51. Epub 2016 Oct 25.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.10.008DOI Listing
December 2016

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

Neurology 2016 Aug 13;87(6):579-84. Epub 2016 Jul 13.

From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia; Biogen, Inc. (J.F.S.), Cambridge, MA; Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal; Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague; General University Hospital in Prague (S.K.), Czech Republic; Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK; Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston; Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research; Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada; and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977374PMC
August 2016

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

Am J Hum Genet 2016 08 21;99(2):423-9. Epub 2016 Jul 21.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974069PMC
August 2016

Audioprofile Surfaces: The 21st Century Audiogram.

Ann Otol Rhinol Laryngol 2016 May 3;125(5):361-8. Epub 2015 Nov 3.

Department of Electrical and Computer Engineering, University of Iowa, Iowa City, Iowa, USA Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, Iowa, USA Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1177/0003489415614863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821702PMC
May 2016

A targeted resequencing gene panel for focal epilepsy.

Neurology 2016 Apr 30;86(17):1605-12. Epub 2016 Mar 30.

From the Epilepsy Research Centre (M.S.H., B.M.R., J.A.D., S.A.M., M.R.N., I.E.S., S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia; Division of Genetic Medicine (C.T.M., G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Florey Institute for Neuroscience and Mental Health (U.N., E.V.G., C.J.M., C.A.R., S.P., I.E.S.), University of Melbourne, Melbourne, Victoria, Australia; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia; and Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://www.neurology.org/content/early/2016/03/30/WNL.000000
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000260
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http://dx.doi.org/10.1212/WNL.0000000000002608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844234PMC
April 2016

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

Epilepsy Res 2015 Nov 9;117:70-3. Epub 2015 Sep 9.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211153004
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http://dx.doi.org/10.1016/j.eplepsyres.2015.09.007DOI Listing
November 2015

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

Epilepsy Res 2015 Aug 5;114:98-105. Epub 2015 May 5.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia; Florey Institute, University of Melbourne, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2015.04.014DOI Listing
August 2015

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

PLoS Genet 2015 Mar 27;11(3):e1005137. Epub 2015 Mar 27.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology University of Iowa, Iowa City, Iowa, United States of America; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4376867PMC
March 2015

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Am J Hum Genet 2014 Oct 25;95(4):445-53. Epub 2014 Sep 25.

Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA; Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185121PMC
October 2014

Does variation in NIPA2 contribute to genetic generalized epilepsy?

Hum Genet 2014 May 10;133(5):673-4. Epub 2014 Jan 10.

Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.

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http://dx.doi.org/10.1007/s00439-013-1414-0DOI Listing
May 2014

Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.

Epilepsia 2014 Feb 31;55(2):e18-21. Epub 2014 Jan 31.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.12519DOI Listing
February 2014

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

Brain 2013 Oct 6;136(Pt 10):3140-50. Epub 2013 Sep 6.

1 NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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https://academic.oup.com/brain/article/136/10/3140/330027
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http://dx.doi.org/10.1093/brain/awt233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784283PMC
October 2013

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

Am J Med Genet A 2013 Sep 5;161A(9):2321-6. Epub 2013 Aug 5.

Department of Paediatrics, The Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36055DOI Listing
September 2013

Recent advances in the molecular genetics of epilepsy.

J Med Genet 2013 May 6;50(5):271-9. Epub 2013 Mar 6.

Department of Medicine, Epilepsy Research Centre, University of Melbourne, Melbourne Brain Centre, Austin Health, 275 Burgundy Street, Heidelberg, Victoria 3084, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2012-101448DOI Listing
May 2013

CFTR-deficient pigs display peripheral nervous system defects at birth.

Proc Natl Acad Sci U S A 2013 Feb 4;110(8):3083-8. Epub 2013 Feb 4.

Department of Internal Medicine, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1222729110
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http://dx.doi.org/10.1073/pnas.1222729110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581923PMC
February 2013

Using the phenome and genome to improve genetic diagnosis for deafness.

Otolaryngol Head Neck Surg 2012 Nov 11;147(5):975-7. Epub 2012 Jul 11.

Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.

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http://dx.doi.org/10.1177/0194599812454271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3694170PMC
November 2012

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

BMC Genomics 2012 Nov 14;13:618. Epub 2012 Nov 14.

Department of Otolaryngology - Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.

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http://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2164-13-618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534602PMC
November 2012

Solution-based targeted genomic enrichment for precious DNA samples.

BMC Biotechnol 2012 May 4;12:20. Epub 2012 May 4.

Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA.

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http://bmcbiotechnol.biomedcentral.com/articles/10.1186/1472
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http://dx.doi.org/10.1186/1472-6750-12-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561655PMC
May 2012

Deafness in the genomics era.

Hear Res 2011 Dec 8;282(1-2):1-9. Epub 2011 Oct 8.

Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1016/j.heares.2011.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3230685PMC
December 2011

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

Genome Biol 2011 Sep 14;12(9):R85. Epub 2011 Sep 14.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1186/gb-2011-12-9-r85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308048PMC
September 2011

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

Nat Commun 2011 Feb 15;2:201. Epub 2011 Feb 15.

Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1038/ncomms1200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105340PMC
February 2011

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Proc Natl Acad Sci U S A 2010 Dec 15;107(49):21104-9. Epub 2010 Nov 15.

Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1012989107
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http://dx.doi.org/10.1073/pnas.1012989107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000272PMC
December 2010

miRNA mutations are not a common cause of deafness.

Am J Med Genet A 2010 Mar;152A(3):646-52

Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.33299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830307PMC
March 2010

Human male infertility caused by mutations in the CATSPER1 channel protein.

Am J Hum Genet 2009 Apr 2;84(4):505-10. Epub 2009 Apr 2.

Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109-0618, USA.

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http://dx.doi.org/10.1016/j.ajhg.2009.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667975PMC
April 2009

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

Am J Med Genet A 2008 Sep;146A(17):2258-65

Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/ajmg.a.32449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2586182PMC
September 2008

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

Proc Natl Acad Sci U S A 2008 Sep 15;105(38):14609-14. Epub 2008 Sep 15.

Department of Genetics, Institute for Childhood and Neglected Diseases, The Scripps Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1073/pnas.0807219105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567147PMC
September 2008

Advances in molecular and cellular therapies for hearing loss.

Mol Ther 2008 Feb 27;16(2):224-36. Epub 2007 Nov 27.

Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1038/sj.mt.6300351DOI Listing
February 2008

Advances in Molecular and Cellular Therapies for Hearing Loss.

Mol Ther 2008 Feb 7;16(2):224-236. Epub 2016 Dec 7.

Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1038/sj.mt.6300351DOI Listing
February 2008

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

Am J Med Genet A 2007 Jul;143A(14):1599-604

Department of Otolaryngology--Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.31860DOI Listing
July 2007

Clinical aspects of hereditary hearing loss.

Genet Med 2007 Jul;9(7):393-408

Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1097GIM.0b013e3180980bd0DOI Listing
July 2007

Gene expression profiling analysis of the inner ear.

Hear Res 2007 Mar 18;225(1-2):1-10. Epub 2007 Jan 18.

Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1016/j.heares.2007.01.015DOI Listing
March 2007

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

Acta Otolaryngol 2006 Dec;126(11):1148-57

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Vic 3052, Australia.

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http://dx.doi.org/10.1080/00016480600702118DOI Listing
December 2006

Cochlear implants for DFNA17 deafness.

Laryngoscope 2006 Dec;116(12):2211-5

Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1097/01.mlg.0000242089.72880.f8DOI Listing
December 2006

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

Hear Res 2005 Feb;200(1-2):102-14

Department of Gene Identification and Expression, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Vic. 3052, Australia.

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http://dx.doi.org/10.1016/j.heares.2004.08.018DOI Listing
February 2005

Characterisation of DRASIC in the mouse inner ear.

Hear Res 2004 Apr;190(1-2):149-60

Department of Gene Identification and Expression, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Vic. 3052, Australia.

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http://dx.doi.org/10.1016/S0378-5955(04)00015-2DOI Listing
April 2004