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Page 1
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Morali B, Miranda V, Raelson J, Grimard G, Glavas P, Audibert F, Dumont NA, Barone J, Bamshad M, Lemyre E, Campeau PM. Morali B, et al. Among authors: lemyre e. Clin Genet. 2024 Oct;106(4):483-487. doi: 10.1111/cge.14570. Epub 2024 Jun 10. Clin Genet. 2024. PMID: 38856159
Genetic Testing in a Cohort of Complex Esophageal Atresia.
Beauregard-Lacroix E, Tardif J, Lemyre E, Kibar Z, Faure C, Campeau PM. Beauregard-Lacroix E, et al. Among authors: lemyre e. Mol Syndromol. 2017 Aug;8(5):236-243. doi: 10.1159/000477429. Epub 2017 Jun 16. Mol Syndromol. 2017. PMID: 28878607 Free PMC article.
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL. Boissel S, et al. Among authors: lemyre e. Genet Med. 2018 Jul;20(7):745-753. doi: 10.1038/gim.2017.173. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261186 Free article.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF. Piard J, et al. Among authors: lemyre e. Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426. Hum Mol Genet. 2018. PMID: 29267967 Free PMC article.
Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud JL, Pelletier VA, Pastore YD, Soucy JF. D'Amours G, et al. Among authors: lemyre e. Clin Genet. 2018 Aug;94(2):252-258. doi: 10.1111/cge.13370. Epub 2018 Jun 7. Clin Genet. 2018. PMID: 29700810
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. Mucha BE, et al. Among authors: lemyre e. Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245510 Free article.
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. Mucha BE, et al. Among authors: lemyre e. Genet Med. 2019 Sep;21(9):2159-2160. doi: 10.1038/s41436-018-0413-x. Genet Med. 2019. PMID: 30643220 Free article.
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: lemyre e. 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.
Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly.
Minsart AF, Boucoiran I, Delrue MA, Audibert F, Abadir S, Lapierre C, Lemyre E, Raboisson MJ. Minsart AF, et al. Among authors: lemyre e. Pediatr Cardiol. 2020 Feb;41(2):230-236. doi: 10.1007/s00246-019-02246-5. Epub 2019 Nov 13. Pediatr Cardiol. 2020. PMID: 31720744
79 results