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Page 1
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, de Kerdanet M, Stuckens C, Jennane F, Souchon PF, Le Tallec C, Désirée C, Pereira S, Dechaume A, Robert JJ, Phillip M, Scharfmann R, Czernichow P, Froguel P, Vaxillaire M, Polak M, Cavé H; French NDM study group. Busiah K, et al. Among authors: drunat s. Lancet Diabetes Endocrinol. 2013 Nov;1(3):199-207. doi: 10.1016/S2213-8587(13)70059-7. Epub 2013 Sep 6. Lancet Diabetes Endocrinol. 2013. PMID: 24622368
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y; Undiagnosed Diseases Network; Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Frost FG, et al. Among authors: drunat s. Am J Hum Genet. 2023 Apr 6;110(4):663-680. doi: 10.1016/j.ajhg.2023.03.001. Epub 2023 Mar 24. Am J Hum Genet. 2023. PMID: 36965478 Free PMC article.
Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia.
Caye A, Beldjord K, Mass-Malo K, Drunat S, Soulier J, Gandemer V, Baruchel A, Bertrand Y, Cavé H, Clappier E. Caye A, et al. Among authors: drunat s. Haematologica. 2013 Apr;98(4):597-601. doi: 10.3324/haematol.2012.073965. Epub 2012 Oct 12. Haematologica. 2013. PMID: 23065506 Free PMC article.
Microvillous atrophy: atypical presentations.
Perry A, Bensallah H, Martinez-Vinson C, Berrebi D, Arbeille B, Salomon J, Goulet O, Marinier E, Drunat S, Samson-Bouma ME, Gérard B, Hugot JP. Perry A, et al. Among authors: drunat s. J Pediatr Gastroenterol Nutr. 2014 Dec;59(6):779-85. doi: 10.1097/MPG.0000000000000526. J Pediatr Gastroenterol Nutr. 2014. PMID: 25111220
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.
Passemard S, Verloes A, Billette de Villemeur T, Boespflug-Tanguy O, Hernandez K, Laurent M, Isidor B, Alberti C, Pouvreau N, Drunat S, Gérard B, El Ghouzzi V, Gallego J, Elmaleh-Bergès M, Huttner WB, Eliez S, Gressens P, Schaer M. Passemard S, et al. Among authors: drunat s. Cortex. 2016 Jan;74:158-76. doi: 10.1016/j.cortex.2015.10.010. Epub 2015 Oct 31. Cortex. 2016. PMID: 26691732
105 results