Yves Lacassie

Medical Genetics | Pediatrics

Children's Hospital - Genetics
200 Henry Clay Avenue
New Orleans, LA 70118

Last Updated: 09/26/2026

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Found 32 publications

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Journal: American journal of medical genetics. Part A

Published: June 02, 2024

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Journal: Human mutation

Published: July 14, 2023

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Journal: Molecular genetics and metabolism

Published: July 13, 2023

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

Journal: Research square

Published: April 10, 2023

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

Journal: Scientific reports

Published: February 10, 2023

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Journal: Human mutation

Published: May 03, 2022

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Journal: Journal of medical genetics

Published: November 29, 2020

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.

Journal: American journal of medical genetics. Part A

Published: August 27, 2020

Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.

Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.

Journal: American journal of medical genetics. Part A

Published: August 15, 2020

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.

Journal: American journal of medical genetics. Part A

Published: December 26, 2019

Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.

Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.

Journal: American journal of medical genetics. Part A

Published: December 05, 2019

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.

Journal: European journal of medical genetics

Published: May 07, 2019

Showing 1-12 of 32

Last Updated: 09/26/2026