Quentin Sabbagh

8PUBLICATIONS

54CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Gene mappingNeurology and neuromuscular diseasesGene and molecular therapyAutomotive mechatronics and autonomous systems

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Publications (8)

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|Jun 26, 2026

Near-perfect genome sequencing in medical genetics.

|May 01, 2026

Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.

|Mar 26, 2026

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Oct 01, 2025

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Liselot van der Laan, Karim Karimi, Kathleen Rooney

|Jan 17, 2025

AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.

Quentin Sabbagh, Natalia Hernandez Poblete, Chloé Angelini

|Jul 16, 2024

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report.

Quentin Sabbagh, Marion Larrieux, Anouck Schneider

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Frequent Collaborators

David Geneviève

Irene Valenzuela

Matthew Tedder

Alfredo Brusco

Bekim Sadikovic

Nathalie Ruiz-Pallares

2 joint publications

Sylvie Odent

2 joint publications

Giovanni Battista Ferrero

1 joint publications

Julie Gavard

1 joint publications

Alexander Hoischen

Frequent Collaborators

David Geneviève

Irene Valenzuela

Matthew Tedder

Alfredo Brusco