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Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A.
Jourdy Y, Chatron N, Frétigny M, Zawadzki C, Lienhart A, Stieltjes N, Rohrlich PS, Thauvin-Robinet C, Volot F, Hamida YF, Hariti G, Leuci A, Dargaud Y, Sanlaville D, Vinciguerra C. Jourdy Y, et al. Among authors: sanlaville d. J Thromb Haemost. 2024 Jun;22(6):1616-1626. doi: 10.1016/j.jtha.2024.03.002. Epub 2024 Mar 13. J Thromb Haemost. 2024. PMID: 38484912
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Talarico M, Fortunato F, Labalme A, Januel L, Chatron N, Sanlaville D, Sammarra I, Gagliardi M, Procopio R, Valentino P, Annesi G, Lesca G, Gambardella A. Talarico M, et al. Among authors: sanlaville d. Epilepsia Open. 2024 Jun;9(3):951-959. doi: 10.1002/epi4.12920. Epub 2024 Mar 27. Epilepsia Open. 2024. PMID: 38544349 Free PMC article.
Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.
El Khattabi LA, Brun S, Gueguen P, Chatron N, Guichoux E, Schutz S, Nectoux J, Sorlin A, Quere M, Boudjarane J, Tsatsaris V, Mandelbrot L, Schluth-Bolard C, Dupont JM, Rooryck C; H+ Consortium. El Khattabi LA, et al. Ultrasound Obstet Gynecol. 2019 Aug;54(2):246-254. doi: 10.1002/uog.20112. Ultrasound Obstet Gynecol. 2019. PMID: 30191619 Free article.
Apport de la génomique dans la médecine de demain, applications cliniques et enjeux.
Laviolle B, Perche O, Gueyffier F; les participants à la table ronde « Recherche translationnelle » des Ateliers de Giens XXXIV. Laviolle B, et al. Therapie. 2019 Feb;74(1):1-8. doi: 10.1016/j.therap.2018.11.011. Epub 2018 Dec 16. Therapie. 2019. PMID: 30616902 Free article. French. No abstract available.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium; Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. Loviglio MN, et al. Among authors: sanlaville d. Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31. Mol Psychiatry. 2017. PMID: 27240531 Free PMC article.
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Szenker-Ravi E, Ott T, Yusof A, Chopra M, Khatoo M, Pak B, Xuan Goh W, Beckers A, Brady AF, Ewans LJ, Djaziri N, Almontashiri NAM, Alghamdi MA, Alharby E, Dasouki M, Romo L, Tan WH, Maddirevula S, Alkuraya FS, Giordano JL, Alkelai A, Wapner RJ, Stals K, Alfadhel M, Alswaid AF, Bogusch S, Schafer-Kosulya A, Vogel S, Vick P, Schweickert A, Wakeling M, Moreau de Bellaing A, Alshamsi AM, Sanlaville D, Mbarek H, Saad C, Ellard S, Eisenhaber F, Tripolszki K, Beetz C, Bauer P, Gossler A, Eisenhaber B, Blum M, Bouvagnet P, Bertoli-Avella A, Amiel J, Gordon CT, Reversade B. Szenker-Ravi E, et al. Among authors: sanlaville d. Am J Hum Genet. 2024 Dec 27:S0002-9297(24)00448-8. doi: 10.1016/j.ajhg.2024.12.006. Online ahead of print. Am J Hum Genet. 2024. PMID: 39753129
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
Ganesh VS, Riquin K, Chatron N, Yoon E, Lamar KM, Aziz MC, Monin P, O'Leary MC, Goodrich JK, Garimella KV, England E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Pengam A, Isidor B, Bezieau S, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. Among authors: sanlaville d. N Engl J Med. 2024 Oct 24;391(16):1511-1518. doi: 10.1056/NEJMoa2400718. N Engl J Med. 2024. PMID: 39442041
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel MN, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Gupta S, Jones EA, Weisz-Hubshman M, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: sanlaville d. Nat Commun. 2024 Aug 6;15(1):6524. doi: 10.1038/s41467-024-50159-6. Nat Commun. 2024. PMID: 39107278 Free PMC article.
299 results