Author Search Results

1

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

by Quinodoz, Mathieu

Published 2021

Access document

Article

2

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads

by Quinodoz, Mathieu

Published 2024

Access document

Article

3

Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa

by Iglesias-Romero, Ana Belén

Published 2024

Other Authors: “...Quinodoz, Mathieu...”
Access document

Article

4

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

by Peter, Virginie G

Published 2023

Other Authors: “...Quinodoz, Mathieu...”
Access document

Article

5

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

by Moye, Abigail R.

Published 2019

Other Authors: “...Quinodoz, Mathieu...”
Access document

Article

6

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

by Zanetti, Andrea

Published 2024

Other Authors: “...Quinodoz, Mathieu...”
Access document

Article

7

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

by Malka, Samantha

Published 2024

Other Authors: “...Quinodoz, Mathieu...”
Access document

Article

8

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

by Kaminska, Karolina

Published 2025

Other Authors: “...Quinodoz, Mathieu...”
Access document

Article

Export CSV Export RIS