Nils Peeters

Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: February 22, 2023

varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.

Journal: Bioinformatics (Oxford, England)

Published: February 13, 2022

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Journal: International journal of molecular sciences

Published: June 04, 2021

Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: September 14, 2020

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.

Journal: European journal of human genetics : EJHG

Published: October 31, 2018

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: June 12, 2018

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.

Journal: Journal of medical genetics

Published: February 02, 2018

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.

Journal: American journal of medical genetics. Part A

Published: August 16, 2012

Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause.

Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause.

varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.

varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.

Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.