Publications by authors named "Nils Peeters"

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Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause.
An Boudewyns, Jenneke van den Ende, Nils Peeters, Guy Van Camp, Anouk Hofkens-Van den Brandt

Otol Neurotol· April 2023

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varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.
Ajay Anand Kumar, Bart Loeys, Gerarda Van De Beek, Nils Peeters, Wim Wuyts

Bioinformatics· January 2023

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Novel Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Ilse Van Gucht, Alice Krebsova, Birgitte Rode Diness, Steven Laga, Dave Adlam, Nils Peeters

Int J Mol Sci· July 2021

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Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.
An Boudewyns, Jenneke van den Ende, Frank Declau, Wim Wuyts, Nils Peeters

Otol Neurotol· October 2020

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Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.
Ilse Luyckx, Gretchen MacCarrick, Marlies Kempers, Josephina Meester, Céline Geryl, Nils Peeters

Eur J Hum Genet· July 2019

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Novel pathogenic variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
Elyssa Cannaerts, Marlies Kempers, Alessandra Maugeri, Carlo Marcelis, Thatjana Gardeitchik, Nils Peeters

J Med Genet· April 2019

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Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
An Boudewyns, Jenneke van den Ende, Manou Sommen, Wim Wuyts, Nils Peeters

Otol Neurotol· July 2018

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Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
Sebastien P F JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven

Eur J Hum Genet· April 2018

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Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.
Dorien Proost, Geert Vandeweyer, Josephina A N Meester, Simone Salemink, Marlies Kempers, Nils Peeters

Hum Mutat· August 2015

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Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
Anita Wischmeijer, Lut Van Laer, Giada Tortora, Nikhita Ajit Bolar, Guy Van Camp, Nils Peeters

Am J Med Genet A· May 2013

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Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome.
Mohammad Amin Tabatabaiefar, Fatemeh Alasti, Nils Peeters, Wim Wuyts, Mohammad Reza Nooridaloii

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: SLC26A4. Disease: deafness, non-syndromic, autosomal recessive.
Fatemeh Alasti, Nils Peeters, Wim Wuyts, Mohammad Hossein Sanati, Guy Van Camp

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.
Fatemeh Alasti, Nils Peeters, Wim Wuyts, Mohammad Hossein Sanati, Guy Van Camp

Hum Genet· January 2010

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Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.
Annelies Konings, Guy Van Camp, Alain Goethals, Els Van Eyken, Ann Vandevelde, Nils Peeters

Mitochondrion· December 2008

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KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.
Anette Bygum, Regina C Betz, Knud Kragballe, Torben Steiniche, Nils Peeters

Acta Derm Venereol· July 2005

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An interstitial deletion of chromosome 7 at band q21: a case report and review.
Winnie Courtens, Stefan Vermeulen, Wim Wuyts, Ludwine Messiaen, Jan Wauters, Nils Peeters

Am J Med Genet A· April 2005

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Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene.
Guy Massa, Nele Jaenen, Sebastien Janssens de Varebeke, Nils Peeters, Wim Wuyts

Eur J Pediatr· October 2003

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