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Page 1
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: smol t. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 Free PMC article.
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Wolfe K, McQuillin A, Alesi V, Boudry Labis E, Cutajar P, Dallapiccola B, Dentici ML, Dieux-Coeslier A, Duban-Bedu B, Duelund Hjortshøj T, Goel H, Loddo S, Morrogh D, Mosca-Boidron AL, Novelli A, Olivier-Faivre L, Parker J, Parker MJ, Patch C, Pelling AL, Smol T, Tümer Z, Vanakker O, van Haeringen A, Vanlerberghe C, Strydom A, Skuse D, Bass N. Wolfe K, et al. Among authors: smol t. Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):397-405. doi: 10.1002/ajmg.b.32627. Epub 2018 Mar 31. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29603867 Free PMC article.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: smol t. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. Update in: Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077 PMID: 37398376 Free PMC article. Updated. Preprint.
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.
Boursier A, Boudry A, Mitchell V, Loyens A, Rives N, Moerman A, Thomas L, Escudier E, Toure A, Whitfield M, Coutton C, Martinez G, Ray PF, Kherraf ZE, Viville S, Legendre M, Smol T, Robin G, Barbotin AL. Boursier A, et al. Among authors: smol t. Reprod Biomed Online. 2023 Nov;47(5):103328. doi: 10.1016/j.rbmo.2023.103328. Epub 2023 Aug 7. Reprod Biomed Online. 2023. PMID: 37742467
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: smol t. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
Cytogenetic landscape in 1012 newly diagnosed chronic lymphocytic leukemia.
Senouci A, Smol T, Tricot S, Bakala J, Moulessehoul S, Quilichini B, Penther D, Herbaux C, Daudignon A. Senouci A, et al. Among authors: smol t. Eur J Haematol. 2019 Dec;103(6):607-613. doi: 10.1111/ejh.13329. Epub 2019 Oct 1. Eur J Haematol. 2019. PMID: 31512291 Clinical Trial.
Poor prognosis of chromosome 7 clonal aberrations in Philadelphia-negative metaphases and relevance of potential underlying myelodysplastic features in chronic myeloid leukemia.
Bidet A, Dulucq S, Smol T, Marceau-Renaut A, Morisset S, Coiteux V, Noël-Walter MP, Nicolini FE, Tigaud I, Luquet I, Struski S, Gaillard B, Penther D, Tondeur S, Nadal N, Hermet E, Véronèse L, Réa D, Gervais C, Theisen O, Terré C, Cony-Makhoul P, Lefebvre C, Gaillard JB, Radford I, Vervaeke AL, Barin C, Chapiro E, Nguyen-Khac F, Etienne G, Preudhomme C, Mahon FX, Roche-Lestienne C; Groupe Francophone de Cytogénétique Hématologique (GFCH) and the French Intergroup of Chronic Myeloid Leukemia (Fi-LMC). Bidet A, et al. Among authors: smol t. Haematologica. 2019 Jun;104(6):1150-1155. doi: 10.3324/haematol.2018.208801. Epub 2018 Dec 20. Haematologica. 2019. PMID: 30573507 Free PMC article.
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Nappi M, Barrese V, Carotenuto L, Lesca G, Labalme A, Ville D, Smol T, Rama M, Dieux-Coeslier A, Rivier-Ringenbach C, Soldovieri MV, Ambrosino P, Mosca I, Pusch M, Miceli F, Taglialatela M. Nappi M, et al. Among authors: smol t. Proc Natl Acad Sci U S A. 2022 Apr 12;119(15):e2116887119. doi: 10.1073/pnas.2116887119. Epub 2022 Apr 4. Proc Natl Acad Sci U S A. 2022. PMID: 35377796 Free PMC article.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. Mignot C, et al. Among authors: smol t. Genet Med. 2019 Aug;21(8):1897-1898. doi: 10.1038/s41436-018-0327-7. Genet Med. 2019. PMID: 30279470 Free PMC article.
77 results