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Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta.
Sanchez-Castro M, Eldjouzi H, Charpentier E, Busson PF, Hauet Q, Lindenbaum P, Delasalle-Guyomarch B, Baudry A, Pichon O, Pascal C, Lefort B, Bajolle F, Pezard P, Schott JJ, Dina C, Redon R, Gournay V, Bonnet D, Le Caignec C. Sanchez-Castro M, et al. Among authors: pichon o. Circ Cardiovasc Genet. 2016 Feb;9(1):86-94. doi: 10.1161/CIRCGENETICS.115.001213. Epub 2015 Dec 7. Circ Cardiovasc Genet. 2016. PMID: 26643481
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.
Isidor B, Pichon O, Redon R, Day-Salvatore D, Hamel A, Siwicka KA, Bitner-Glindzicz M, Heymann D, Kjellén L, Kraus C, Leroy JG, Mortier GR, Rauch A, Verloes A, David A, Le Caignec C. Isidor B, et al. Among authors: pichon o. Am J Hum Genet. 2010 Jul 9;87(1):95-100. doi: 10.1016/j.ajhg.2010.05.012. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602915 Free PMC article.
Congenital heart defects in patients with deletions upstream of SOX9.
Sanchez-Castro M, Gordon CT, Petit F, Nord AS, Callier P, Andrieux J, Guérin P, Pichon O, David A, Abadie V, Bonnet D, Visel A, Pennacchio LA, Amiel J, Lyonnet S, Le Caignec C. Sanchez-Castro M, et al. Among authors: pichon o. Hum Mutat. 2013 Dec;34(12):1628-31. doi: 10.1002/humu.22449. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24115316
Patients with isolated oligo/hypodontia caused by RUNX2 duplication.
Molin A, Lopez-Cazaux S, Pichon O, Vincent M, Isidor B, Le Caignec C. Molin A, et al. Among authors: pichon o. Am J Med Genet A. 2015 Jun;167(6):1386-90. doi: 10.1002/ajmg.a.37052. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899668
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S. Pizzo L, et al. Among authors: pichon o. Genet Med. 2019 Apr;21(4):816-825. doi: 10.1038/s41436-018-0266-3. Epub 2018 Sep 7. Genet Med. 2019. PMID: 30190612 Free PMC article.
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