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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 1
2001 1
2003 1
2004 3
2005 2
2006 4
2007 5
2008 2
2009 8
2010 4
2011 15
2012 10
2013 14
2014 8
2015 8
2016 7
2017 8
2018 11
2019 10
2020 9
2021 8
2022 5
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118 results
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Page 1
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.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. Among authors: callier p. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P, Faivre L, Marle N, Engwerda A, van Ravenswaaij-Arts CMA, Plutino M, Karmous-Benailly H, Benech C, Redon S, Boute O, Boudry Labis E, Rama M, Kuentz P, Assoumani J, Maldergem LV, Dupont C, Verloes A, Tabet AC. Lévy J, et al. Among authors: callier p. Clin Genet. 2021 Oct;100(4):396-404. doi: 10.1111/cge.14017. Epub 2021 Jul 1. Clin Genet. 2021. PMID: 34176129
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P. Carmignac V, et al. Among authors: callier p. Genet Med. 2021 Aug;23(8):1484-1491. doi: 10.1038/s41436-021-01161-6. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833411 Free PMC article.
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Delanne J, Bruel AL, Huet F, Moutton S, Nambot S, Grisval M, Houcinat N, Kuentz P, Sorlin A, Callier P, Jean-Marcais N, Mosca-Boidron AL, Mau-Them FT, Denommé-Pichon AS, Vitobello A, Lehalle D, El Chehadeh S, Francannet C, Lebrun M, Lambert L, Jacquemont ML, Gerard-Blanluet M, Alessandri JL, Willems M, Thevenon J, Chouchane M, Darmency V, Fatus-Fauconnier C, Gay S, Bournez M, Masurel A, Leguy V, Duffourd Y, Philippe C, Feillet F, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: callier p. Mol Genet Metab Rep. 2021 Oct 18;29:100812. doi: 10.1016/j.ymgmr.2021.100812. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34712575 Free PMC article. Review.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P. Carmignac V, et al. Among authors: callier p. Genet Med. 2021 Aug;23(8):1585. doi: 10.1038/s41436-021-01217-7. Genet Med. 2021. PMID: 34257424 Free PMC article. No abstract available.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Thomas Q, et al. Among authors: callier p. Genet Med. 2021 Oct;23(10):1901-1911. doi: 10.1038/s41436-021-01218-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113008
[Chromosomal abnormalities in acute myeloid leukaemias].
Mugneret F, Callier P, Favre-Audry B. Mugneret F, et al. Among authors: callier p. Pathol Biol (Paris). 2003 Aug;51(6):314-28. doi: 10.1016/s0369-8114(03)00114-7. Pathol Biol (Paris). 2003. PMID: 12927889 Review. French.
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F, Duffourd Y, Vitobello A, Bruel AL, Denommé-Pichon AS, Nambot S, Delanne J, Moutton S, Sorlin A; Orphanomix Physician’s Group, Couturier V, Bourgeois V, Chevarin M, Poe C, Mosca-Boidron AL, Callier P, Safraou H, Faivre L, Philippe C, Thauvin-Robinet C. Tran Mau-Them F, et al. Among authors: callier p. Mol Genet Genomic Med. 2021 Dec;9(12):e1836. doi: 10.1002/mgg3.1836. Epub 2021 Oct 30. Mol Genet Genomic Med. 2021. PMID: 34716697 Free PMC article.
118 results