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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.
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.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A.
Vuillaume ML, et al. Among authors: vonwill s.
Hum Mutat. 2018 Jun;39(6):790-805. doi: 10.1002/humu.23428. Epub 2018 Apr 24.
Hum Mutat. 2018.
PMID: 29637653
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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Jeanne M, Vuillaume ML, Ung DC, Vancollie VE, Wagner C, Collins SC, Vonwill S, Haye D, Chelloug N, Pfundt R, Kummeling J, Moizard MP, Marouillat S, Kleefstra T, Yalcin B, Laumonnier F, Toutain A.
Jeanne M, et al. Among authors: vonwill s.
Hum Genet. 2021 Jun;140(6):885-896. doi: 10.1007/s00439-020-02252-1. Epub 2021 Jan 8.
Hum Genet. 2021.
PMID: 33417013
Free article.
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Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders.
Bitar T, Hleihel W, Marouillat S, Vonwill S, Vuillaume ML, Soufia M, Vourc'h P, Laumonnier F, Andres CR.
Bitar T, et al. Among authors: vonwill s.
Mol Genet Genomic Med. 2019 Aug;7(8):e786. doi: 10.1002/mgg3.786. Epub 2019 Jun 29.
Mol Genet Genomic Med. 2019.
PMID: 31254375
Free PMC article.
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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A.
Vuillaume ML, et al. Among authors: vonwill s.
Hum Mutat. 2018 Dec;39(12):2110-2112. doi: 10.1002/humu.23612. Epub 2018 Sep 17.
Hum Mutat. 2018.
PMID: 30447178
No abstract available.
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Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
Ronce N, Maystadt I, Hubert C, Vonwill S, Devriendt K, Moizard MP, Raynaud M.
Ronce N, et al. Among authors: vonwill s.
Clin Genet. 2012 Jul;82(1):93-6. doi: 10.1111/j.1399-0004.2011.01782.x. Epub 2011 Dec 30.
Clin Genet. 2012.
PMID: 22211847
No abstract available.
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