Isabelle Schrauwen

Isabelle Schrauwen

UNVERIFIED PROFILE

Are you Isabelle Schrauwen?   Register this Author

Register author
Isabelle Schrauwen

Isabelle Schrauwen

Publications by authors named "Isabelle Schrauwen"

Are you Isabelle Schrauwen?   Register this Author

68Publications

2084Reads

47Profile Views

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

Authors:
Khurram Liaqat Shabir Hussain Muhammad Bilal Abdul Nasir Anushree Acharya Raja Hussain Ali Shoaib Nawaz Muhammad Umair Isabelle Schrauwen Wasim Ahmad Suzanne M Leal

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.

View Article

Download full-text PDF

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

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

Authors:
Elina Kari Lorida Llaci John L Go Marcus Naymik James A Knowles Suzanne M Leal Sampath Rangasamy Matthew J Huentelman Winnie Liang Rick A Friedman Isabelle Schrauwen

Ear Hear 2020 Jan 24. Epub 2020 Jan 24.

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

View Article

Download full-text PDF

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

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss.

Authors:
Elina Kari Lorida Llaci John L Go Marcus Naymik James A Knowles Suzanne M Leal Sampath Rangasamy Matthew J Huentelman Rick A Friedman Isabelle Schrauwen

Mol Genet Genomic Med 2019 Dec 8;7(12):e995. Epub 2019 Oct 8.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/mgg3.995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900394PMC
December 2019

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Authors:
Lorida Llaci Keri Ramsey Newell Belnap Ana M Claasen Chris D Balak Szabolcs Szelinger Wayne M Jepsen Ashley L Siniard Ryan Richholt Tyler Izat Marcus Naymik Matt De Both Ignazio S Piras David W Craig Matthew J Huentelman Vinodh Narayanan Isabelle Schrauwen Sampathkumar Rangasamy

Hum Genet 2019 Dec 20;138(11-12):1409-1417. Epub 2019 Nov 20.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1007/s00439-019-02077-7DOI Listing
December 2019

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.

Authors:
Carmel G McCullough Szabolcs Szelinger Newell Belnap Keri Ramsey Isabelle Schrauwen Ana M Claasen Leah W Burke Ashley L Siniard Matthew J Huentelman Vinodh Narayanan David W Craig

Hum Mutat 2019 Oct 29. Epub 2019 Oct 29.

Department of Translational Genomics, University of Southern California, Los Angeles, California.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.23939DOI Listing
October 2019

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

Authors:
Imen Chakchouk Di Zhang Zhihui Zhang Laurent C Francioli Regie Lyn P Santos-Cortez Isabelle Schrauwen Suzanne M Leal

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.

View Article

Download full-text PDF

 Source
http://www.nature.com/articles/s41431-019-0417-2
Publisher Site
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.

Authors:
Hanne Valgaeren Manou Sommen Matthias Beyens Geert Vandeweyer Isabelle Schrauwen Anne Schepers Isabelle Schatteman Vedat Topsakal Ingeborg Dhooge Henricus Kunst Diego Zanetti Alexander M Huber Alexander Hoischen Erik Fransen Guy Van Camp

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.

View Article

Download full-text PDF

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

Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects.

Authors:
Beate Peter Valentin Dinu Li Liu Matthew Huentelman Marcus Naymik Hope Lancaster Caitlin Vose Isabelle Schrauwen

Behav Genet 2019 07 4;49(4):399-414. Epub 2019 Apr 4.

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

View Article

Download full-text PDF

 Source
http://link.springer.com/10.1007/s10519-019-09957-8
Publisher Site
http://dx.doi.org/10.1007/s10519-019-09957-8DOI Listing
July 2019

Heterozygosity mapping for human dominant trait variants.

Authors:
Atsuko Imai-Okazaki Yi Li Sukanya Horpaopan Yasser Riazalhosseini Masoud Garshasbi Yael P Mosse Di Zhang Isabelle Schrauwen Aarushi Sharma Cathy S J Fann Suzanne M Leal Mark Lathrop Jurg Ott

Hum Mutat 2019 07 24;40(7):996-1004. Epub 2019 Apr 24.

Laboratory of Statistical Genetics, Rockefeller University, New York, New York.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.23765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617796PMC
July 2019

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

Authors:
Nathan R Lindquist Eric N Appelbaum Anushree Acharya Jeffrey T Vrabec Suzanne M Leal Isabelle Schrauwen

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.

View Article

Download full-text PDF

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

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.

Authors:
Isabelle Schrauwen Béla I Melegh Imen Chakchouk Anushree Acharya Abdul Nasir Alexis Poston Diana M Cornejo-Sanchez Zsolt Szabo Tamás Karosi Judit Bene Béla Melegh Suzanne M Leal

Eur J Hum Genet 2019 Jun 14;27(6):869-878. Epub 2019 Mar 14.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/s41431-019-0372-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777543PMC
June 2019

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.

Authors:
Irfan Ullah Naseebullah Kakar Isabelle Schrauwen Shabir Hussain Imen Chakchouk Khurram Liaqat Anushree Acharya Naveed Wasif Regie Lyn P Santos-Cortez Saadullah Khan Abdul Aziz Kwanghyuk Lee Julien Couthouis Denise Horn Bjørt K Kragesteen Malte Spielmann Holger Thiele Deborah A Nickerson Michael J Bamshad Aaron D Gitler Jamil Ahmad Muhammad Ansar Guntram Borck Wasim Ahmad Suzanne M Leal

Hum Genet 2019 Jun 13;138(6):593-600. Epub 2019 Apr 13.

Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1007/s00439-019-02000-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6724712PMC
June 2019

Family history of Alzheimer's disease alters cognition and is modified by medical and genetic factors.

Authors:
Joshua S Talboom Asta Håberg Matthew D De Both Marcus A Naymik Isabelle Schrauwen Candace R Lewis Stacy F Bertinelli Callie Hammersland Mason A Fritz Amanda J Myers Meredith Hay Carol A Barnes Elizabeth Glisky Lee Ryan Matthew J Huentelman

Elife 2019 06 18;8. Epub 2019 Jun 18.

The Translational Genomics Research Institute, Phoenix, United States.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.7554/eLife.46179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6615857PMC
June 2019

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Authors:
Isabelle Schrauwen Hanne Valgaeren Laura Tomas-Roca Manou Sommen Umut Altunoglu Mieke Wesdorp Matthias Beyens Erik Fransen Abdul Nasir Geert Vandeweyer Anne Schepers Malika Rahmoun Ellen van Beusekom Matt J Huentelman Erwin Offeciers Ingeborg Dhooghe Alex Huber Paul Van de Heyning Diego Zanetti Els M R De Leenheer Christian Gilissen Alexander Hoischen Cor W Cremers Berit Verbist Arjan P M de Brouwer George W Padberg Ronald Pennings Hülya Kayserili Hannie Kremer Guy Van Camp Hans van Bokhoven

Genet Med 2019 05 5;21(5):1199-1208. Epub 2018 Oct 5.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/s41436-018-0300-5DOI Listing
May 2019

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.

Authors:
Isabelle Schrauwen Arnaud Pj Giese Abdul Aziz David Tino Lafont Imen Chakchouk Regie Lyn P Santos-Cortez Kwanghyuk Lee Anushree Acharya Falak Sher Khan Asmat Ullah Deborah A Nickerson Michael J Bamshad Ghazanfar Ali Saima Riazuddin Muhammad Ansar Wasim Ahmad Zubair M Ahmed Suzanne M Leal

J Bone Miner Res 2019 02 5;34(2):375-386. Epub 2018 Nov 5.

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

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/jbmr.3594
Publisher Site
http://dx.doi.org/10.1002/jbmr.3594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6489482PMC
February 2019

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Authors:
Rabia Faridi Risa Tona Alessandra Brofferio Michael Hoa Rafal Olszewski Isabelle Schrauwen Muhammad Z K Assir Akhtar A Bandesha Asma A Khan Atteeq U Rehman Carmen Brewer Wasim Ahmed Suzanne M Leal Sheikh Riazuddin Steven E Boyden Thomas B Friedman

Hum Mutat 2019 02 12;40(2):162-176. Epub 2018 Dec 12.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.23689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328321PMC
February 2019

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.

Authors:
Khurram Liaqat Isabelle Schrauwen Syed Irfan Raza Kwanghyuk Lee Shabir Hussain Imen Chakchouk Abdul Nasir Anushree Acharya Izoduwa Abbe Muhammad Umair Muhammad Ansar Irfan Ullah Khadim Shah Michael J Bamshad Deborah A Nickerson Wasim Ahmad Suzanne M Leal

J Hum Genet 2019 Feb 30;64(2):153-160. Epub 2018 Nov 30.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/s10038-018-0542-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6561484PMC
February 2019

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Authors:
Elodie M Richard Regie Lyn P Santos-Cortez Rabia Faridi Atteeq U Rehman Kwanghyuk Lee Mohsin Shahzad Anushree Acharya Asma A Khan Ayesha Imtiaz Imen Chakchouk Christina Takla Izoduwa Abbe Maria Rafeeq Khurram Liaqat Taimur Chaudhry Michael J Bamshad Deborah A Nickerson Isabelle Schrauwen Shaheen N Khan Robert J Morell Saba Zafar Muhammad Ansar Zubair M Ahmed Wasim Ahmad Sheikh Riazuddin Thomas B Friedman Suzanne M Leal Saima Riazuddin

Hum Mutat 2019 01 18;40(1):53-72. Epub 2018 Nov 18.

Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/humu.23666
Publisher Site
http://dx.doi.org/10.1002/humu.23666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296877PMC
January 2019

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.

Authors:
Khurram Liaqat Ilene Chiu Kwanghyuk Lee Imen Chakchouk Paula B Andrade-Elizondo Regie Lyn P Santos-Cortez Shabir Hussain Shoaib Nawaz Muhammad Ansar Muhammad Nasim Khan Sulman Basit Isabelle Schrauwen Wasim Ahmad Suzanne M Leal

J Hum Genet 2018 Nov 3;63(11):1099-1107. Epub 2018 Sep 3.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/s10038-018-0502-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202120PMC
November 2018

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Authors:
Regie Lyn P Santos-Cortez Valeed Khan Falak Sher Khan Zaib-Un-Nisa Mughal Imen Chakchouk Kwanghyuk Lee Memoona Rasheed Rifat Hamza Anushree Acharya Ehsan Ullah Muhammad Arif Nadeem Saqib Izoduwa Abbe Ghazanfar Ali Muhammad Jawad Hassan Saadullah Khan Zahid Azeem Irfan Ullah Michael J Bamshad Deborah A Nickerson Isabelle Schrauwen Wasim Ahmad Muhammad Ansar Suzanne M Leal

Hum Genet 2018 Sep 22;137(9):735-752. Epub 2018 Aug 22.

Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1007/s00439-018-1928-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201268PMC
September 2018

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.

Authors:
Zahid Latif Imen Chakchouk Isabelle Schrauwen Kwanghyuk Lee Regie Lyn P Santos-Cortez Izoduwa Abbe Anushree Acharya Afeefa Jarral Imran Ali Ehsan Ullah Muhammad Nasim Khan Ghazanfar Ali Tufail Hussain Tahir Michael J Bamshad Deborah A Nickerson Wasim Ahmad Muhammad Ansar Suzanne M Leal

Invest Ophthalmol Vis Sci 2018 09;59(11):4552-4557

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1167/iovs.18-23849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133250PMC
September 2018

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

Authors:
Isabelle Schrauwen Elina Kari Jacob Mattox Lorida Llaci Joanna Smeeton Marcus Naymik David W Raible James A Knowles J Gage Crump Matthew J Huentelman Rick A Friedman

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.

View Article

Download full-text PDF

 Source
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.

Authors:
Brittany Gerald Keri Ramsey Newell Belnap Szabolcs Szelinger Ashley L Siniard Chris Balak Megan Russell Ryan Richholt Matt De Both Ana M Claasen Isabelle Schrauwen Matthew J Huentelman David W Craig Sampathkumar Rangasamy Vinodh Narayanan

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:

View Article

Download full-text PDF

 Source
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.

Authors:
Isabelle Schrauwen Imen Chakchouk Khurram Liaqat Abid Jan Abdul Nasir Shabir Hussain Deborah A Nickerson Michael J Bamshad Asmat Ullah Wasim Ahmad Suzanne M Leal

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.

View Article

Download full-text PDF

 Source
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.

Authors:
Isabelle Schrauwen Imen Chakchouk Anushree Acharya Khurram Liaqat Irfanullah Deborah A Nickerson Michael J Bamshad Khadim Shah Wasim Ahmad Suzanne M Leal

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.

View Article

Download full-text PDF

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

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.

Authors:
Chris Balak Newell Belnap Keri Ramsey Shelagh Joss Koen Devriendt Marcus Naymik Wayne Jepsen Ashley L Siniard Szabolcs Szelinger Mary E Parker Ryan Richholt Tyler Izatt Madison LaFleur Panieh Terraf Lorida Llaci Matt De Both Ignazio S Piras Sampathkumar Rangasamy Isabelle Schrauwen David W Craig Matt Huentelman Vinodh Narayanan

Am J Med Genet A 2018 07;176(7):1549-1558

Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/ajmg.a.38712
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38712DOI Listing
July 2018

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

Authors:
Ignazio S Piras Gabrielle Mills Lorida Llaci Marcus Naymik Keri Ramsey Newell Belnap Chris D Balak Wayne M Jepsen Szabolcs Szelinger Ashley L Siniard Candace R Lewis Madison LaFleur Ryan F Richholt Matt D De Both Kristiina Avela Sampathkumar Rangasamy David W Craig Vinodh Narayanan Irma Järvelä Matthew J Huentelman Isabelle Schrauwen

Epigenomics 2017 11 2;9(11):1373-1386. Epub 2017 Oct 2.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, 445 N 5th Street, Phoenix, AZ, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.2217/epi-2017-0060DOI Listing
November 2017

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

Authors:
Beate Peter Hope Lancaster Caitlin Vose Amna Fares Isabelle Schrauwen Matthew Huentelman

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

Translational Genomics Research Institute, Phoenix, Arizona.

View Article

Download full-text PDF

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

Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathway.

Authors:
Ignazio S Piras Jonida Krate Isabelle Schrauwen Jason J Corneveaux Geidy E Serrano Lucia Sue Thomas G Beach Matthew J Huentelman

Hippocampus 2017 07 22;27(7):784-793. Epub 2017 Apr 22.

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, 85004.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/hipo.22731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501956PMC
July 2017

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

Authors:
Elina Kari Isabelle Schrauwen Lorida Llaci Laurel M Fisher John L Go Marcus Naymik James A Knowles Matthew J Huentelman Rick A Friedman

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.

View Article

Download full-text PDF

 Source
http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
Publisher Site
http://dx.doi.org/10.1212/NXG.0000000000000153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427666PMC
June 2017

Case Report: Novel mutations in are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.

Authors:
Erika Banuelos Keri Ramsey Newell Belnap Malavika Krishnan Chris Balak Szabolcs Szelinger Ashley L Siniard Megan Russell Ryan Richholt Matt De Both Ignazio Piras Marcus Naymik Ana M Claasen Sampathkumar Rangasamy Matthew J Huentelman David W Craig Philippe M Campeau Vinodh Narayanan Isabelle Schrauwen

F1000Res 2017 24;6:553. Epub 2017 Apr 24.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.12688/f1000research.10588.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473401PMC
April 2017

Advances in Molecular Genetics and the Molecular Biology of Deafness.

Authors:
Shin-Ya Nishio Isabelle Schrauwen Hideaki Moteki Hela Azaiez

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

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

View Article

Download full-text PDF

 Source
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.

Authors:
Maria Magdalena Picher Anna Gehrt Sandra Meese Aleksandra Ivanovic Friederike Predoehl SangYong Jung Isabelle Schrauwen Alberto Giulio Dragonetti Roberto Colombo Guy Van Camp Nicola Strenzke Tobias Moser

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;

View Article

Download full-text PDF

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

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

Authors:
Abby M Moskowitz Newell Belnap Ashley L Siniard Szabolcs Szelinger Ana M Claasen Ryan F Richholt Matt De Both Jason J Corneveaux Chris Balak Ignazio S Piras Megan Russell Amanda L Courtright Sampath Rangasamy Keri Ramsey David W Craig Vinodh Narayanan Matt J Huentelman Isabelle Schrauwen

Cold Spring Harb Mol Case Stud 2016 Sep;2(5):a000851

Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.

View Article

Download full-text PDF

 Source
http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs
Publisher Site
http://dx.doi.org/10.1101/mcs.a000851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002929PMC
September 2016

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

Authors:
Manou Sommen Isabelle Schrauwen Geert Vandeweyer Nele Boeckx Jason J Corneveaux Jenneke van den Ende An Boudewyns Els De Leenheer Sandra Janssens Kathleen Claes Margriet Verstreken Nicola Strenzke Friederike Predöhl Wim Wuyts Geert Mortier Maria Bitner-Glindzicz Tobias Moser Paul Coucke Matthew J Huentelman Guy Van Camp

Hum Mutat 2016 08 6;37(8):812-9. Epub 2016 May 6.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.22999DOI Listing
August 2016

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Authors:
Johannes R Lemke Kirsten Geider Katherine L Helbig Henrike O Heyne Hannah Schütz Julia Hentschel Carolina Courage Christel Depienne Caroline Nava Delphine Heron Rikke S Møller Helle Hjalgrim Dennis Lal Bernd A Neubauer Peter Nürnberg Holger Thiele Gerhard Kurlemann Georgianne L Arnold Vikas Bhambhani Deborah Bartholdi Christeen Ramane J Pedurupillay Doriana Misceo Eirik Frengen Petter Strømme Dennis J Dlugos Emily S Doherty Emilia K Bijlsma Claudia A Ruivenkamp Mariette J V Hoffer Amy Goldstein Deepa S Rajan Vinodh Narayanan Keri Ramsey Newell Belnap Isabelle Schrauwen Ryan Richholt Bobby P C Koeleman Joaquim Sá Carla Mendonça Carolien G F de Kovel Sarah Weckhuysen Katia Hardies Peter De Jonghe Linda De Meirleir Mathieu Milh Catherine Badens Marine Lebrun Tiffany Busa Christine Francannet Amélie Piton Erik Riesch Saskia Biskup Heinrich Vogt Thomas Dorn Ingo Helbig Jacques L Michaud Bodo Laube Steffen Syrbe

Neurology 2016 06 6;86(23):2171-8. Epub 2016 May 6.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1212/WNL.0000000000002740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898312PMC
June 2016

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

Authors:
Jing You Nara L Sobreira Dustin L Gable Julie Jurgens Dorothy K Grange Newell Belnap Ashley Siniard Szabolcs Szelinger Isabelle Schrauwen Ryan F Richholt Stephanie E Vallee Mary Beth P Dinulos David Valle Mary Armanios Julie Hoover-Fong

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.

View Article

Download full-text PDF

 Source
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.

Authors:
Isabelle Schrauwen Szabolcs Szelinger Ashley L Siniard Ahmet Kurdoglu Jason J Corneveaux Ivana Malenica Ryan Richholt Guy Van Camp Matt De Both Shanker Swaminathan Mari Turk Keri Ramsey David W Craig Vinodh Narayanan Matthew J Huentelman

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.

View Article

Download full-text PDF

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

A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear.

Authors:
Isabelle Schrauwen Yehudit Hasin-Brumshtein Jason J Corneveaux Jeffrey Ohmen Cory White April N Allen Aldons J Lusis Guy Van Camp Matthew J Huentelman Rick A Friedman

Hear Res 2016 Mar 1;333:266-274. Epub 2015 Sep 1.

Keck School of Medicine, USC, Los Angeles, CA, United States.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.heares.2015.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775449PMC
March 2016

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

Authors:
Mohan Narayanan Keri Ramsey Theresa Grebe Isabelle Schrauwen Szabolcs Szelinger Matthew Huentelman David Craig Vinodh Narayanan

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.

View Article

Download full-text PDF

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

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing.

Authors:
Szabolcs Szelinger Ivana Malenica Jason J Corneveaux Ashley L Siniard Ahmet A Kurdoglu Keri M Ramsey Isabelle Schrauwen Jeffrey M Trent Vinodh Narayanan Matthew J Huentelman David W Craig

PLoS One 2014 12;9(12):e113036. Epub 2014 Dec 12.

Center for Rare Childhood Disorders, The Translational Genomics Research Institute, Phoenix, Arizona, United States of America.

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0113036PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264736PMC
October 2015

Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds.

Authors:
Isabelle Schrauwen Renee M Barber Scott J Schatzberg Ashley L Siniard Jason J Corneveaux Brian F Porter Karen M Vernau Rebekah I Keesler Kaspar Matiasek Thomas Flegel Andrew D Miller Teresa Southard Christopher L Mariani Gayle C Johnson Matthew J Huentelman

PLoS One 2014 13;9(11):e112755. Epub 2014 Nov 13.

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States of America.

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112755PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231098PMC
July 2015

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

Authors:
Isabelle Schrauwen Szabolcs Szelinger Ashley L Siniard Jason J Corneveaux Ahmet Kurdoglu Ryan Richholt Matt De Both Ivana Malenica Shanker Swaminathan Sampathkumar Rangasamy Neil Kulkarni Saunder Bernes Jeffrey Buchhalter Keri Ramsey David W Craig Vinodh Narayanan Matthew J Huentelman

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.

View Article

Download full-text PDF

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

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.

Authors:
Erik Fransen Sarah Bonneux Jason J Corneveaux Isabelle Schrauwen Federica Di Berardino Cory H White Jeffrey D Ohmen Paul Van de Heyning Umberto Ambrosetti Matthew J Huentelman Guy Van Camp Rick A Friedman

Eur J Hum Genet 2015 Jan 18;23(1):110-5. Epub 2014 Jun 18.

Cell Biology and Genetics Division, House Research Institute, Los Angeles, CA, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/ejhg.2014.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266741PMC
January 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.

Authors:
Manou Sommen Guy Van Camp Balázs Liktor Péter Csomor Erik Fransen István Sziklai Isabelle Schrauwen Tamás Karosi

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.

View Article

Download full-text PDF

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

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

Authors:
Megan Ealy Nicole C Meyer Johnny Cruz Corchado Isabelle Schrauwen Andreas Bress Markus Pfister Guy Van Camp Richard J H Smith

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.

View Article

Download full-text PDF

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

Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease.

Authors:
Margarita Giraldo Francisco Lopera Ashley L Siniard Jason J Corneveaux Isabelle Schrauwen Julian Carvajal Claudia Muñoz Manuel Ramirez-Restrepo Chris Gaiteri Amanda J Myers Richard J Caselli Kenneth S Kosik Eric M Reiman Matthew J Huentelman

Neurobiol Aging 2013 Aug 9;34(8):2077.e11-8. Epub 2013 Apr 9.

Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, Colombia.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.neurobiolaging.2013.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830921PMC
August 2013

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

Authors:
Mohamed Ali Mosrati Isabelle Schrauwen Mariem Ben Saiid Mounira Aifa-Hmani Erik Fransen Malek Mneja Abdelmonem Ghorbel Guy Van Camp Saber Masmoudi

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.

View Article

Download full-text PDF

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

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

Authors:
Isabelle Schrauwen Manou Sommen Jason J Corneveaux Rebecca A Reiman Nicole J Hackett Charlotte Claes Kathleen Claes Maria Bitner-Glindzicz Paul Coucke Guy Van Camp Matthew J Huentelman

Am J Med Genet A 2013 Jan 3;161A(1):145-52. Epub 2012 Dec 3.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.35737DOI Listing
January 2013

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

Authors:
Mohamed Ali Mosrati Isabelle Schrauwen Hassen Kamoun Ilhem Charfeddine Erik Fransen Abdelmonem Ghorbel Guy Van Camp Saber Masmoudi

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

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

View Article

Download full-text PDF

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

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.

Authors:
Isabelle Schrauwen Sarah Helfmann Akira Inagaki Friederike Predoehl Mohammad Amin Tabatabaiefar Maria Magdalena Picher Manou Sommen Celia Zazo Seco Jaap Oostrik Hannie Kremer Annelies Dheedene Charlotte Claes Erik Fransen Morteza Hashemzadeh Chaleshtori Paul Coucke Amy Lee Tobias Moser Guy Van Camp

Am J Hum Genet 2012 10 13;91(4):636-45. Epub 2012 Sep 13.

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

View Article

Download full-text PDF

 Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297120043
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2012.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484643PMC
October 2012

COL1A1 association and otosclerosis: a meta-analysis.

Authors:
Isabelle Schrauwen Ayda Khalfallah Megan Ealy Erik Fransen Charlotte Claes Alex Huber Laura Rodriguez Murillo Saber Masmoudi Richard J H Smith Guy Van Camp

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.

View Article

Download full-text PDF

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

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

Authors:
Ayda Khalfallah Isabelle Schrauwen Malek Mnejja Hassen HadjKacem Leila Dhouib Mohamed Ali Mosrati Bochra Hakim Imed Lahmar Ilhem Charfeddine Nabil Driss Hammadi Ayadi Abdelmonem Ghorbel Guy Van Camp Saber Masmoudi

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.

View Article

Download full-text PDF

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

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

Authors:
Megan Ealy Isabelle Schrauwen Guy Van Camp

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

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

View Article

Download full-text PDF

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

A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.

Authors:
Maarten Vanwesemael Isabelle Schrauwen Ruben Ceuppens Fatemeh Alasti Ellen Jorssen Effat Farrokhi Morteza Hashemzadeh Chaleshtori Guy Van Camp

Am J Med Genet A 2011 Aug 7;155A(8):2021-3. Epub 2011 Jul 7.

Department of Medical Genetics, University of Antwerp, 2610, Wilrijk, Belgium.

View Article

Download full-text PDF

 Source
http://skums.ac.ir/dorsapax/userfiles/file/m-kh-90-hashemzad
Web Search
http://doi.wiley.com/10.1002/ajmg.a.34096
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34096DOI Listing
August 2011

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

Authors:
Konstantinos Nikopoulos Isabelle Schrauwen Marleen Simon Rob W J Collin Marc Veckeneer Kathelijn Keymolen Guy Van Camp Frans P M Cremers L Ingeborgh van den Born

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.

View Article

Download full-text PDF

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

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

Authors:
Michael S Hildebrand Matías Morín Nicole C Meyer Fernando Mayo Silvia Modamio-Hoybjor Angeles Mencía Leticia Olavarrieta Carmelo Morales-Angulo Carla J Nishimura Heather Workman Adam P DeLuca Ignacio del Castillo Kyle R Taylor Bruce Tompkins Corey W Goodman Isabelle Schrauwen Maarten Van Wesemael K Lachlan A Eliot Shearer Terry A Braun Patrick L M Huygen Hannie Kremer Guy Van Camp Felipe Moreno Thomas L Casavant Richard J H Smith Miguel A Moreno-Pelayo

Hum Mutat 2011 Jul 7;32(7):825-34. Epub 2011 Jun 7.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.21512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326665PMC
July 2011

Phenotype of the first otosclerosis family linked to OTSC10.

Authors:
Nicole J D Weegerink Isabelle Schrauwen Patrick L M Huygen Ronald J E Pennings Cor W R J Cremers Guy Van Camp Henricus P M Kunst

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.

View Article

Download full-text PDF

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

Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia.

Authors:
Ayda Khalfallah Isabelle Schrauwen Malek Mnaja Erik Fransen Imed Lahmar Megan Ealy Leila Dhouib Hammadi Ayadi Ilhem Charfedine Nabil Driss Abdelmonem Ghorbel Richard J H Smith Saber Masmoudi Guy Van Camp

Ann Hum Genet 2010 Sep 14;74(5):399-405. Epub 2010 Jul 14.

Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax, Tunisie.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1111/j.1469-1809.2010.00595.xDOI Listing
September 2010

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

Authors:
Isabelle Schrauwen Guy Van Camp

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

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

View Article

Download full-text PDF

 Source
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.

Authors:
Isabelle Schrauwen Megan Ealy Erik Fransen Kathleen Vanderstraeten Melissa Thys Nicole C Meyer Marcel Cosgarea Alex Huber Manuela Mazzoli Markus Pfister Richard J H Smith Guy Van Camp

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.

View Article

Download full-text PDF

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

No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population.

Authors:
Isabelle Schrauwen Melissa Thys Kathleen Vanderstraeten Erik Fransen Megan Ealy Cor W R J Cremers Ingeborg Dhooge Paul Van de Heyning Erwin Offeciers Richard J H Smith Guy Van Camp

Otol Neurotol 2009 Dec;30(8):1079-83

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1097/MAO.0b013e3181ab3058DOI Listing
December 2009

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.

Authors:
Isabelle Schrauwen Megan Ealy Matthew J Huentelman Melissa Thys Nils Homer Kathleen Vanderstraeten Erik Fransen Jason J Corneveaux David W Craig Mireille Claustres Cor W R J Cremers Ingeborg Dhooge Paul Van de Heyning Robert Vincent Erwin Offeciers Richard J H Smith Guy Van Camp

Am J Hum Genet 2009 Mar 19;84(3):328-38. Epub 2009 Feb 19.

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

View Article

Download full-text PDF

 Source
http://www.cell.com/cms/attachment/1077262/7907172/mmc1.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292970900046
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2009.01.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667982PMC
March 2009

Association of bone morphogenetic proteins with otosclerosis.

Authors:
Isabelle Schrauwen Melissa Thys Kathleen Vanderstraeten Erik Fransen Nele Dieltjens Jeroen R Huyghe Megan Ealy Mireille Claustres Cor R W J Cremers Ingeborg Dhooge Frank Declau Paul Van de Heyning Robert Vincent Thomas Somers Erwin Offeciers Richard J H Smith Guy Van Camp

J Bone Miner Res 2008 Apr;23(4):507-16

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1359/jbmr.071112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2669162PMC
April 2008

A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9.

Authors:
Insaf Bel Hadj Ali Melissa Thys Najeh Beltaief Isabelle Schrauwen Nele Hilgert Kathleen Vanderstraeten Nele Dieltjens Emna Mnif Slah Hachicha Ghazi Besbes Saïda Ben Arab Guy Van Camp

Hum Genet 2008 Apr 26;123(3):267-72. Epub 2008 Jan 26.

Unité d'Epidémiologie Génétique et Moléculaire, Faculté de Médecine, 1007, Tunis, Tunisia.

View Article

Download full-text PDF

 Source
http://link.springer.com/10.1007/s00439-008-0470-3
Publisher Site
http://dx.doi.org/10.1007/s00439-008-0470-3DOI Listing
April 2008

The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.

Authors:
Melissa Thys Isabelle Schrauwen Kathleen Vanderstraeten Katrien Janssens Nele Dieltjens Kris Van Den Bogaert Erik Fransen Wenjie Chen Megan Ealy Mireille Claustres Cor R W J Cremers Ingeborg Dhooge Frank Declau Jos Claes Paul Van de Heyning Robert Vincent Thomas Somers Erwin Offeciers Richard J H Smith Guy Van Camp

Hum Mol Genet 2007 Sep 22;16(17):2021-30. Epub 2007 Jun 22.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1093/hmg/ddm150DOI Listing
September 2007

Clinical and genetic analysis of two Tunisian otosclerosis families.

Authors:
Insaf Bel Hadj Ali Melissa Thys Najeh Beltaief Isabelle Schrauwen Nele Dieltjens Kathleen Vanderstraeten Ghazi Besbes Emna Mnif Slah Hachicha Saïda Ben Arab Guy Van Camp

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

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

View Article

Download full-text PDF

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

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

Authors:
Melissa Thys Kris Van Den Bogaert Vassiliki Iliadou Kathleen Vanderstraeten Nele Dieltjens Isabelle Schrauwen Wenjie Chen Nikolaos Eleftheriades Maria Grigoriadou Robert Jan Pauw Cor R W J Cremers Richard J H Smith Michael B Petersen Guy Van Camp

Eur J Hum Genet 2007 Mar 10;15(3):362-8. Epub 2007 Jan 10.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/sj.ejhg.5201761DOI Listing
March 2007