Bernard Puech

Lille, France

Last Updated: 09/26/2026

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Found 16 publications

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 26, 2019

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Journal: Human mutation
Published: February 11, 2019

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Journal: Human mutation
Published: November 12, 2018

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 19, 2018

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.

Journal: Scientific reports
Published: October 02, 2017

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Journal: Ophthalmic genetics
Published: June 22, 2017

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Journal: Scientific reports
Published: February 14, 2017

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.

Journal: Scientific reports
Published: June 09, 2016

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.

Journal: Ophthalmology
Published: February 14, 2016

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Journal: Ophthalmology
Published: September 15, 2015

Long-term follow-up of two patients with oligocone trichromacy.

Long-term follow-up of two patients with oligocone trichromacy.

Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: February 05, 2015

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Journal: American journal of ophthalmology
Published: November 10, 2014
Showing 1-12 of 16

Last Updated: 09/26/2026