Pierre Blanc

Paris, France

Last Updated: 09/26/2026

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Found 38 publications

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy.

Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy.

Journal: European journal of medical genetics

Published: December 03, 2025

Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome.

Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome.

Journal: Circulation. Genomic and precision medicine

Published: November 12, 2025

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

Journal: American journal of human genetics

Published: September 23, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

Journal: eLife

Published: August 27, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: April 29, 2025

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Journal: Nature

Published: April 24, 2025

Showing 1-12 of 38

Last Updated: 09/26/2026