M. Bonnet‐Dupeyron

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

Glennis A. Logsdon, Danny E. Miller, C. Baker, 2021, bioRxiv.

A wave of deep intronic mutations in X-linked Alport Syndrome.

O. Gribouval, C. Antignac, C. Bole-Feysot, 2023, Kidney international.

Alpha satellite insertions and the evolutionary landscape of centromeres 1

Glennis A. Logsdon, Danny E. Miller, C. Baker, 2021 .

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1

E. Bertini, R. Schiffmann, D. Rodriguez, 2006, Neurogenetics.

Somatic MMR Gene Mutations as a Cause for MSI‐H Sebaceous Neoplasms in Muir–Torre Syndrome‐Like Patients

J. Saurin, C. Audoynaud, Qing Wang, 2015, Human mutation.

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients

J. Saurin, J. Limacher, V. Boige, 2022, Digestive Diseases and Sciences.

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease

J. Auwerx, C. Vaurs-Barrière, O. Boespflug-Tanguy, 2017, Brain pathology.

PLP1 splicing abnormalities identified in Pelizaeus‐Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations

C. Vaurs-Barrière, O. Boespflug-Tanguy, P. Combes, 2008, Human mutation.

Absence of OLIG2 mutations in patients presenting with a severe Pelizaeus‐Merzbacher‐like leukodystrophy associated with motor neuron dysfunction

C. Vaurs-Barrière, O. Boespflug-Tanguy, P. Combes, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort

C. Lasset, A. Calender, M. Léoné, 2023, Cancers.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

F. Révillion, R. Lidereau, N. Sevenet, 2021, American journal of human genetics.

Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first‐trimester prenatal diagnosis

J. Jaffray, Y. Chérasse, A. Geneix, 2004, Prenatal diagnosis.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.