Isabelle Schrauwen

Isabelle Schrauwen

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Isabelle Schrauwen

Isabelle Schrauwen

Publications by authors named "Isabelle Schrauwen"

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Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.

J Hum Genet 2020 Jan 28;65(2):187-192. Epub 2019 Oct 28.

Center of Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/s10038-019-0691-4DOI Listing
January 2020

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations.

Ear Hear 2020 Jan 24. Epub 2020 Jan 24.

Neurogenomics Division and Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.

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http://dx.doi.org/10.1097/AUD.0000000000000819DOI Listing
January 2020

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

Eur J Hum Genet 2019 Sep 3;27(9):1456-1465. Epub 2019 May 3.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://www.nature.com/articles/s41431-019-0417-2
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http://dx.doi.org/10.1038/s41431-019-0417-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777454PMC
September 2019

Insufficient evidence for a role of SERPINF1 in otosclerosis.

Mol Genet Genomics 2019 Aug 9;294(4):1001-1006. Epub 2019 Apr 9.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Universiteitsplein 1, Wilrijk, 2610, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00438-019-01558-8DOI Listing
August 2019

A Start Codon Variant in Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes.

Case Rep Genet 2019 22;2019:2836263. Epub 2019 Jul 22.

Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1155/2019/2836263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679842PMC
July 2019

De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness.

Hum Genet 2018 Jul 28;137(6-7):459-470. Epub 2018 Jun 28.

Division of Otolaryngology, Head and Neck Surgery, Department of Surgery, University of California, San Diego, ECOB-East Campus Office Building Room 3-013, 9444 Medical Center Drive, Mail Code 7220, La Jolla, CA, 92037, USA.

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http://dx.doi.org/10.1007/s00439-018-1898-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082420PMC
July 2018

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

Semin Pediatr Neurol 2018 07 16;26:28-32. Epub 2017 Aug 16.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ; School of Life Sciences, Arizona State University, Tempe, AZ. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.08.008DOI Listing
July 2018

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

Hum Genet 2018 Jul 3;137(6-7):471-478. Epub 2018 Jul 3.

Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, One Baylor Plaza 700D, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-018-1899-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094940PMC
July 2018

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

BMC Med Genet 2018 07 20;19(1):122. Epub 2018 Jul 20.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza 700D, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1186/s12881-018-0618-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053831PMC
July 2018

Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.

Am J Med Genet A 2017 Oct 2;173(10):2659-2669. Epub 2017 Aug 2.

Translational Genomics Research Institute, Phoenix, Arizona.

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http://doi.wiley.com/10.1002/ajmg.a.38385
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http://dx.doi.org/10.1002/ajmg.a.38385DOI Listing
October 2017

Compound heterozygous mutations in in a deaf child with absent cochlear nerves.

Neurol Genet 2017 Jun 11;3(3):e153. Epub 2017 May 11.

Tina and Rick Caruso Department of Otolaryngology-Head and Neck Surgery (E.K., L.M.F., J.L.G., J.A.K., R.A.F.), Keck University of Southern California School of Medicine, Los Angeles; and TGen (I.S., L.L., M.N., M.J.H.), Translational Genomics Research Institute, Phoenix, AZ.

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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.0000000000000153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427666PMC
June 2017

Advances in Molecular Genetics and the Molecular Biology of Deafness.

Biomed Res Int 2016 20;2016:5629093. Epub 2016 Jul 20.

Department of Otolaryngology, University of Iowa, Iowa City, IA 52246, USA.

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http://dx.doi.org/10.1155/2016/5629093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971315PMC
February 2017

Ca-binding protein 2 inhibits Ca-channel inactivation in mouse inner hair cells.

Proc Natl Acad Sci U S A 2017 02 9;114(9):E1717-E1726. Epub 2017 Feb 9.

Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Goettingen, 37099 Goettingen, Germany;

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http://dx.doi.org/10.1073/pnas.1617533114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338518PMC
February 2017

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Am J Hum Genet 2016 05 28;98(5):909-918. Epub 2016 Apr 28.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ajhg.2016.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863664PMC
May 2016

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

PLoS One 2015 15;10(7):e0131797. Epub 2015 Jul 15.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131797PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503302PMC
April 2016

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

F1000Res 2015 28;4:912. Epub 2015 Sep 28.

Arizona Pediatric Neurology & Neurogenetics Associates, Phoenix, AZ, USA ; Barrow Neurological Institute, Phoenix, AZ, USA ; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

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http://dx.doi.org/10.12688/f1000research.7106.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617320PMC
November 2015

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

Invest Ophthalmol Vis Sci 2015 Jun;56(6):3896-904

Dorrance Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, United States 2Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States.

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http://dx.doi.org/10.1167/iovs.14-16261DOI Listing
June 2015

Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype.

Otol Neurotol 2014 Jul;35(6):1058-64

*University of Antwerp, Department of Medical Genetics, Antwerp, Belgium; †Bajcsy-Zsilinszky Hospital, ENT Department, Budapest; and ‡University of Debrecen, Medical and Health Science Center, Department of Otolaryngology and Head and Neck Surgery, Debrecen, Hungary.

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http://dx.doi.org/10.1097/MAO.0000000000000334DOI Listing
July 2014

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

Otol Neurotol 2014 Mar;35(3):395-400

*Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, U.S.A.; †Department of Medical Genetics, University of Antwerp, Antwerp, Belgium; and ‡Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1097/MAO.0000000000000244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945298PMC
March 2014

Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21.

J Hum Genet 2013 Feb 13;58(2):98-101. Epub 2012 Dec 13.

Microorganisms and Biomolecules Laboratory, Centre of Biotechnology of Sfax, Sfax University, Sfax, Tunisia.

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http://dx.doi.org/10.1038/jhg.2012.141DOI Listing
February 2013

Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.

Gene 2012 Dec 10;510(2):102-6. Epub 2012 Sep 10.

Microorganisms and Biomolecules Laboratory Centre of Biotechnology of Sfax, Sfax University, Tunisia.

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http://dx.doi.org/10.1016/j.gene.2012.09.006DOI Listing
December 2012

COL1A1 association and otosclerosis: a meta-analysis.

Am J Med Genet A 2012 May 9;158A(5):1066-70. Epub 2012 Apr 9.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.35276DOI Listing
May 2012

Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.

Ann Hum Genet 2011 Sep 21;75(5):598-604. Epub 2011 Jul 21.

Equipe Procédés de Criblages Moléculaires et Cellulaires, Laboratoire de Microorganismes et de Biomolécules, Centre de Biotechnologie de Sfax, Université de Sfax, Tunisie.

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http://dx.doi.org/10.1111/j.1469-1809.2011.00665.xDOI Listing
September 2011

Commentary on "Otosclerosis: thirty-year follow-up after surgery".

Ann Otol Rhinol Laryngol 2011 Sep;120(9):615-6

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

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http://dx.doi.org/10.1177/000348941112000910DOI Listing
September 2011

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. Epub 2011 Jul 1.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.10-7128DOI Listing
July 2011

Phenotype of the first otosclerosis family linked to OTSC10.

Laryngoscope 2011 Apr;121(4):838-45

Department of Otorhinolaryngology, Donder's Centre for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/lary.21463DOI Listing
April 2011

The etiology of otosclerosis: a combination of genes and environment.

Laryngoscope 2010 Jun;120(6):1195-202

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1002/lary.20934DOI Listing
June 2010

Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.

Hum Genet 2010 Feb 22;127(2):155-62. Epub 2009 Oct 22.

Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00439-009-0754-2DOI Listing
February 2010

Clinical and genetic analysis of two Tunisian otosclerosis families.

Am J Med Genet A 2007 Jul;143A(14):1653-60

Unité d'Epidémiologie Génétique et Moléculaire-Faculté de Médecine de Tunis, Tunisia.

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http://dx.doi.org/10.1002/ajmg.a.31806DOI Listing
July 2007