Cédric Le Caignec

Inserm — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

56h-index10.4kcitations190works5.72yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(77), Genetics and Neurodevelopmental Disorders(44), Congenital heart defects research(36), Genomics and Rare Diseases(28), Prenatal Screening and Diagnostics(22)

Publications189 total

<i>ACTB</i> deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
Journal of Medical Genetics·2025
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Cell·2025· 6 citedOpen Access
Arrhythmogenic Potential of Heterozygous TECRL Variants in Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia
JACC. Clinical electrophysiology·2025· 3 citedOpen Access
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
2024· 4 citedOpen Access
Table of Contents, Volume 194A, Number 4, April 2024
American Journal of Medical Genetics Part A·2024Open Access
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
The American Journal of Human Genetics·2024· 21 citedOpen Access
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
The American Journal of Human Genetics·2023· 39 citedOpen Access
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
2023· 5 citedOpen Access
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
npj Genomic Medicine·2023Open Access
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)
Prenatal Diagnosis·2023· 4 citedOpen Access
P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*
Genetics in Medicine Open·2023· 2 citedOpen Access
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
American Journal of Medical Genetics Part A·2022· 33 citedOpen Access
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
Nature Communications·2022· 38 citedOpen Access
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
American Journal of Medical Genetics Part A·2022· 6 cited
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
npj Genomic Medicine·2022· 8 citedOpen Access
10q26 deletion syndrome: a French cohort study
HAL (Le Centre pour la Communication Scientifique Directe)·2022
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters
European Journal of Human Genetics·2022· 12 citedOpen Access
First evidence of <scp> <i>SOX2</i> </scp> mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Clinical Genetics·2022· 25 citedOpen Access
Effects of eight neuropsychiatric copy number variants on human brain structure
Translational Psychiatry·2021· 43 citedOpen Access
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
The American Journal of Human Genetics·2021· 31 citedOpen Access
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Frequent Co-authors

Bertrand Isidor(27), Albert David(17), Joris Andrieux(12), Laurence Faivre(11), Sébastien Jacquemont(9), Damien Sanlaville(9), Mieke M. van Haelst(9), Alexandre Reymond(8), Katrin Männik(7), Boris Keren(7), Didier Lacombe(7), R. Frank Kooy(6), J. Beckmann(6), Martine Doco‐Fenzy(6), Cyril Mignot(6), Caroline Rooryck(6), Olivier Pichon(6), Claire Bénéteau(6), Annick Toutain(6), Odile Boute(5)