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What is epidemiology? Changing definitions of epidemiology 1978-2017.
Frérot M, Lefebvre A, Aho S, Callier P, Astruc K, Aho Glélé LS. Frérot M, et al. Among authors: callier p. PLoS One. 2018 Dec 10;13(12):e0208442. doi: 10.1371/journal.pone.0208442. eCollection 2018. PLoS One. 2018. PMID: 30532230 Free PMC article. Review.
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Delanne J, Jean-Marçais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poë C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF, Vitobello A. Colin E, et al. Among authors: callier p. Front Cell Dev Biol. 2022 Oct 28;10:1021785. doi: 10.3389/fcell.2022.1021785. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36393831 Free PMC article.
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Ben-Mahmoud A, Jun KR, Gupta V, Shastri P, de la Fuente A, Park Y, Shin KC, Kim CA, da Cruz AD, Pinto IP, Minasi LB, Silva da Cruz A, Faivre L, Callier P, Racine C, Layman LC, Kong IK, Kim CH, Kim WY, Kim HG. Ben-Mahmoud A, et al. Among authors: callier p. Front Mol Neurosci. 2022 Oct 6;15:979061. doi: 10.3389/fnmol.2022.979061. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36277487 Free PMC article.
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Tisserant E, Vitobello A, Callegarin D, Verdez S, Bruel AL, Aho Glele LS, Sorlin A, Viora-Dupont E, Konyukh M, Marle N, Nambot S, Moutton S, Racine C, Garde A, Delanne J, Tran-Mau-Them F, Philippe C, Kuentz P, Poulleau M, Payet M, Poe C, Thauvin-Robinet C, Faivre L, Mosca-Boidron AL, Thevenon J, Duffourd Y, Callier P. Tisserant E, et al. Among authors: callier p. Ann Hum Genet. 2022 Jul;86(4):171-180. doi: 10.1111/ahg.12459. Epub 2022 Feb 9. Ann Hum Genet. 2022. PMID: 35141892
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet AC, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier MP, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Fellmann F, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca AL, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P. Marle N, et al. Among authors: callier p. Clin Genet. 2014 Mar;85(3):233-44. doi: 10.1111/cge.12138. Epub 2013 Apr 5. Clin Genet. 2014. PMID: 23489061
An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation.
Mosca-Boidron AL, Faivre L, Aho S, Marle N, Truntzer C, Rousseau T, Ragon C, Payet M, Thauvin-Robinet C, Thevenon J, El Chehadeh S, Huet F, Sagot P, Mugneret F, Callier P. Mosca-Boidron AL, et al. Among authors: callier p. PLoS One. 2013;8(4):e59956. doi: 10.1371/journal.pone.0059956. Epub 2013 Apr 2. PLoS One. 2013. PMID: 23565177 Free PMC article.
136 results