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

Year Number of Results
1996 2
1997 1
1998 1
1999 2
2004 1
2006 4
2007 2
2008 3
2009 3
2010 1
2011 3
2012 1
2013 7
2014 12
2015 3
2016 3
2017 4
2018 5
2019 9
2020 3
2021 4
2022 4
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60 results
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Page 1
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. Among authors: puechberty j. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Complex chromosomal rearrangements: origin and meiotic behavior.
Pellestor F, Anahory T, Lefort G, Puechberty J, Liehr T, Hédon B, Sarda P. Pellestor F, et al. Among authors: puechberty j. Hum Reprod Update. 2011 Jul-Aug;17(4):476-94. doi: 10.1093/humupd/dmr010. Epub 2011 Apr 11. Hum Reprod Update. 2011. PMID: 21486858 Review.
Chromoanagenesis, the mechanisms of a genomic chaos.
Pellestor F, Gaillard JB, Schneider A, Puechberty J, Gatinois V. Pellestor F, et al. Among authors: puechberty j. Semin Cell Dev Biol. 2022 Mar;123:90-99. doi: 10.1016/j.semcdb.2021.01.004. Epub 2021 Feb 16. Semin Cell Dev Biol. 2022. PMID: 33608210 Review.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ. Schanze I, et al. Among authors: puechberty j. Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006. Am J Hum Genet. 2018. PMID: 30388402 Free PMC article.
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N, Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB, Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H, Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C, Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C, Kherraf ZE, Coutton C, Ray PF. Celse T, et al. Among authors: puechberty j. Hum Genet. 2021 Jan;140(1):43-57. doi: 10.1007/s00439-020-02229-0. Epub 2020 Oct 27. Hum Genet. 2021. PMID: 33108537
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.
Perrin A, Van Goethem C, Thèze C, Puechberty J, Guignard T, Lecardonnel B, Lacourt D, Métay C, Isapof A, Whalen S, Ferreiro A, Arne-Bes MC, Quijano-Roy S, Nectoux J, Leturcq F, Richard P, Larrieux M, Bergougnoux A, Pellestor F, Koenig M, Cossée M. Perrin A, et al. Among authors: puechberty j. J Mol Diagn. 2022 May 14:S1525-1578(22)00131-3. doi: 10.1016/j.jmoldx.2022.04.006. Online ahead of print. J Mol Diagn. 2022. PMID: 35580751 Free article.
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
Cayrefourcq L, Vincent MC, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, Puechberty J, Willems M, Liautard-Haag C, Molinari N, Zordan C, Dorian V, Rooryck-Thambo C, Goizet C, Chaussenot A, Rouzier C, Boureau-Wirth A, Monteil L, Calvas P, Miry C, Favre R, Petrov Y, Khau Van Kien P, Le Boette E, Fradin M, Alix-Panabières C, Guissart C. Cayrefourcq L, et al. Among authors: puechberty j. Sci Rep. 2020 Jun 17;10(1):9861. doi: 10.1038/s41598-020-66923-9. Sci Rep. 2020. PMID: 32555262 Free PMC article.
60 results