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Page 1
Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.
Teekakirikul P, Zhu W, Xu X, Young CB, Tan T, Smith AM, Wang C, Peterson KA, Gabriel GC, Ho S, Sheng Y, Moreau de Bellaing A, Sonnenberg DA, Lin JH, Fotiou E, Tenin G, Wang MX, Wu YL, Feinstein T, Devine W, Gou H, Bais AS, Glennon BJ, Zahid M, Wong TC, Ahmad F, Rynkiewicz MJ, Lehman WJ, Keavney B, Alastalo TP, Freckmann ML, Orwig K, Murray S, Ware SM, Zhao H, Feingold B, Lo CW. Teekakirikul P, et al. Among authors: moreau de bellaing a. Cell Rep Med. 2022 Feb 15;3(2):100501. doi: 10.1016/j.xcrm.2021.100501. eCollection 2022 Feb 15. Cell Rep Med. 2022. PMID: 35243414 Free PMC article.
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.
Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin JH, Bais AS, Klonowski J, Moreau de Bellaing A, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Sing Li H, Miron A, Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride KL, Benson DW, Gleason TG, Mital S, Lo CW. Teekakirikul P, et al. Among authors: moreau de bellaing a. HGG Adv. 2021 Jul 8;2(3):100037. doi: 10.1016/j.xhgg.2021.100037. Epub 2021 Jul 29. HGG Adv. 2021. PMID: 34888534 Free PMC article.
A Membrane-Tethered Ubiquitination Pathway Regulates Hedgehog Signaling and Heart Development.
Kong JH, Young CB, Pusapati GV, Patel CB, Ho S, Krishnan A, Lin JI, Devine W, Moreau de Bellaing A, Athni TS, Aravind L, Gunn TM, Lo CW, Rohatgi R. Kong JH, et al. Among authors: moreau de bellaing a. Dev Cell. 2020 Nov 23;55(4):432-449.e12. doi: 10.1016/j.devcel.2020.08.012. Epub 2020 Sep 22. Dev Cell. 2020. PMID: 32966817 Free PMC article.
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT. Guimier A, et al. Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5. Nat Genet. 2015. PMID: 26437028 Free PMC article.
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B. Szenker-Ravi E, et al. Among authors: moreau de bellaing a. Nat Genet. 2022 Jan;54(1):62-72. doi: 10.1038/s41588-021-00970-4. Epub 2021 Dec 13. Nat Genet. 2022. PMID: 34903892
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B. Szenker-Ravi E, et al. Among authors: moreau de bellaing a. Nat Genet. 2022 Jun;54(6):906. doi: 10.1038/s41588-022-01053-8. Nat Genet. 2022. PMID: 35304595 No abstract available.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K. Guimier A, et al. Among authors: moreau de bellaing a. Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16. Genet Med. 2021. PMID: 34400813 Free PMC article.
Heterotaxy: fluctuat nec mergitur.
Houyel L, Moreau de Bellaing A, Bonnet D. Houyel L, et al. Among authors: moreau de bellaing a. Cardiol Young. 2021 Jul;31(7):1200-1201. doi: 10.1017/S1047951121002961. Cardiol Young. 2021. PMID: 34323208
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