A. Receveur

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15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.

C. Philippe, L. Tosca, G. Tachdjian, 2018, European journal of medical genetics.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients

N. Philip, A. Renieri, F. Mari, 2010, American journal of medical genetics. Part A.

A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations

N. Frydman, A. Benachi, G. Tachdjian, 2020, Basic and Clinical Andrology.

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

N. Le Meur, C. Bénéteau, C. Yardin, 2014, Prenatal diagnosis.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

L. Faivre, G. Lefort, C. Thauvin-Robinet, 2011, Prenatal diagnosis.

Burkitt-type acute leukemia in a patient with B-prolymphocytic leukemia: evidence for a common origin.

R. Berger, F. Davi, V. Leblond, 2005, Cancer genetics and cytogenetics.

Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet.

L. Tosca, G. Tachdjian, J. Martinovic, 2017, Taiwanese journal of obstetrics & gynecology.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

J. Andrieux, M. Mathieu, J. Rochette, 2015, Annales d'endocrinologie.

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

J. Andrieux, M. Mathieu-Dramard, G. Morin, 2015, Case reports in genetics.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

R. Berger, F. Nguyen‐Khac, H. Merle-Béral, 2004, Annales de genetique.

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

J. Andrieux, J. Gondry, S. Chantot-Bastaraud, 2015, American journal of medical genetics. Part A.

Detecting single DNA copy number variations in complex genomes using one nanogram of starting DNA and BAC-array CGH.

Alain Bernheim, Xavier Gidrol, Marine Guillaud-Bataille, 2005, Nucleic acids research.

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

J. Toutain, C. Yardin, F. Vialard, 2015, European Journal of Human Genetics.

Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion

G. Tachdjian, J. Martinovic, F. Petit, 2021, American journal of medical genetics. Part A.

Characterization of quantitative chromosomal abnormalities in renal cell carcinomas by interphase four-color fluorescence in situ hybridization.

A. Bernheim, G. Danglot, V. Molinie, 2005, Cancer genetics and cytogenetics.

Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study.

A. Benachi, V. Tsatsaris, J. Zeitlin, 2021, American journal of obstetrics and gynecology.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature

M. Benkhalifa, H. Copin, G. Jedraszak, 2015, Molecular Cytogenetics.

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

K. Devriendt, H. Firth, S. Julia, 2013, European journal of medical genetics.

Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia

A. Benachi, L. Tosca, G. Tachdjian, 2022, Prenatal diagnosis.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

A. Afenjar, N. Le Meur, L. Faivre, 2018, Journal of Medical Genetics.

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

L. Tosca, G. Tachdjian, J. Amiel, 2018, European journal of medical genetics.

A severe prenatal presentation of Cat Eye Syndrome.

J. Andrieux, H. Sevestre, J. Rochette, 2013, Clinical Dysmorphology.

Analysis of chromosomal instability in pulmonary or liver metastases and matched primary hepatocellular carcinoma after orthotopic liver transplantation

D. Piatier‐Tonneau, B. Debuire, J. Emile, 2003, International journal of cancer.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

J. Crolla, I. Temple, Meredith Wilson, 2015, American journal of medical genetics. Part A.

"Impact of Simulation-Based Prenatal Invasive Procedure Training on Professional Practice, a preliminary study".

A. Benachi, J. Saada, A. Vivanti, 2020, Journal of gynecology obstetrics and human reproduction.

Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.

J. Arnoux, V. Malan, Pauline Marzin, 2023, European journal of medical genetics.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

C. Thauvin-Robinet, J. Andrieux, P. Sagot, 2011, Prenatal diagnosis.