Yves Lacassie

9PUBLICATIONS
40CO-AUTHORS
Polymerisation mechanismsGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsAnthropological geneticsHypersonic propulsion and hypersonic aerothermodynamics
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Publications (9)

|Apr 14, 2025
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf

|Dec 21, 2024
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).

Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud

|Jul 11, 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Sheng-Jia Lin, Barbara Vona, Hillary M Porter

|Jan 13, 2021
Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.

Benjamin Chanes, Marta Arriaza, Yves Lacassie

|Dec 28, 2020
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.

Michelle E Walters, Yves Lacassie, Mahshid Azamian

|Apr 24, 2020
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.

Devon Haynes, Lynda Pollack, Chitra Prasad

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Frequent Collaborators

2 joint publications

Hyung-Goo Kim

2 joint publications

Pengfei Liu

2 joint publications

Lawrence Layman

2 joint publications

Franz Rüschendorf