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Annals of Human Genetics|February 22, 2012
Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT)Patricia Combes, Vincent Planche, Eléonore Eymard-Pierre, et al.
European Journal of Medical Genetics|July 17, 2012
An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairmentCéline Pebrel-Richard, Stéphan Kemeny, Laetitia Gouas, et al.
European Journal of Medical Genetics|August 10, 2014
Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delayStéphan Kemeny, Céline Pebrel-Richard, Eléonore Eymard-Pierre, et al.
Annales De Biologie Clinique|September 16, 2020
Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalitiesCharline Mourgues, Eléonore Eymard-Pierre, Hélène Laurichesse-Delmas, et al.
American Journal of Human Genetics|April 23, 2003
Ovarian failure related to eukaryotic initiation factor 2B mutationsAnne Fogli, Diana Rodriguez, Eléonore Eymard-Pierre, et al.
Cytogenetic and Genome Research|July 24, 2015
Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal KaryotypeLaetitia Gouas, Stéphan Kémény, Anne-Marie Beaufrère, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndromeCarole Goumy, Fanny Laffargue, Eléonore Eymard-Pierre, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 23, 2014
De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palateCarole Goumy, Mathilde Gay-Bellile, Eléonore Eymard-Pierre, et al.
NPJ Genomic Medicine|July 26, 2019
Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndromeCatherine Sarret, Zahra Ashkavand, Evan Paules, et al.
European Journal of Human Genetics : EJHG|July 18, 2013
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, et al.
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