Laurence Sabourin-Perrin
Paris, France
Last Updated: 09/26/2026
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Found 9 publications
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.
Journal: Nature genetics
Published: September 02, 2025
Expanding the phenotype associated with biallelic SCNM1 variants.
Journal: Human genomics
Published: July 24, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Journal: European journal of human genetics : EJHG
Published: January 29, 2019
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: April 08, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: November 03, 2016
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Journal: European journal of human genetics : EJHG
Published: February 22, 2013
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Journal: American journal of medical genetics. Part A
Published: November 06, 2011
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Last Updated: 09/26/2026