Search filters

List of works by Kevin Yauy

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes

article

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

scientific article published on 26 November 2019

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

scientific article published on 3 August 2017

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

scientific article published on 02 August 2019

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine

scientific article published on 17 March 2022

Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis.

scientific article published in January 2018

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

scientific article published on 22 April 2018

Ovarian Clear Cell Carcinoma in Cowden Syndrome

scientific article published on 01 January 2019

Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives

article

[Non-invasive prenatal screening]

scientific article published on 01 February 2019

[Problems posed by genetic diseases, concerning: chromosomal disorders, trisomy 21; genetic diseases, cystic fibrosis, DNA instability disorders: fragile X syndrome]

scientific article published on 01 February 2019

Paulina is supported by:

About Paulina

Help