A. Boughalem

RAS activation induces synthetic lethality of MEK inhibition with mitochondrial oxidative metabolism in acute myeloid leukemia

D. Birnbaum, P. Gestraud, E. Pasmant, 2022, Leukemia.

Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome

A. Luscan, P. Kleinfinger, A. Boughalem, 2022, Frontiers in Genetics.

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

A. Benachi, A. Luscan, G. Le Guyader, 2020, Journal of clinical medicine.

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

A. Verloes, L. Faivre, C. Philippe, 2022, European Journal of Human Genetics.

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

C. Bris, V. Procaccio, L. Faivre, 2019, Human mutation.

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin

A. Luscan, S. Serero, P. Kleinfinger, 2022, Genes.

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

E. Krüger, S. Auvin, A. Verloes, 2019, Clinical genetics.

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.

D. Bertrand, S. Coutant, F. Lecoquierre, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine

S. Coutant, F. Lecoquierre, J. Thevenon, 2021, medRxiv.