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Page 1
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Among authors: helm m. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, Henderson LB, Lorenzo K, Wallace SE, Glass IA, Hamdan FF, Michaud JL, Rouleau GA, Campeau PM. Gauthier J, et al. Among authors: helm mh. Ann Neurol. 2018 Jun;83(6):1089-1095. doi: 10.1002/ana.25204. Epub 2018 Apr 10. Ann Neurol. 2018. PMID: 29518281
The BabySeq project: implementing genomic sequencing in newborns.
Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW; BabySeq Project Team; Green RC, Beggs AH. Holm IA, et al. BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1. BMC Pediatr. 2018. PMID: 29986673 Free PMC article. Clinical Trial.
A Ralstonia solanacearum type III effector alters the actin and microtubule cytoskeleton to promote bacterial virulence in plants.
Hiles R, Rogers A, Jaiswal N, Zhang W, Butchacas J, Merfa MV, Klass T, Barua P, Thirumalaikumar VP, Jacobs JM, Staiger CJ, Helm M, Iyer-Pascuzzi AS. Hiles R, et al. Among authors: helm m. PLoS Pathog. 2024 Dec 26;20(12):e1012814. doi: 10.1371/journal.ppat.1012814. eCollection 2024 Dec. PLoS Pathog. 2024. PMID: 39724074 Free PMC article.
Relationship Between Severity of Ischemia and Coronary Artery Disease for Different Stress Test Modalities in the ISCHEMIA Trial.
Reynolds HR, Page CB, Shaw LJ, Berman DS, Chaitman BR, Picard MH, Kwong RY, Min JK, Leipsic J, Mancini GBJ, Budoff MJ, Hague CJ, Senior R, Szwed H, Bhargava B, Celutkiene J, Gadkari M, Bainey KR, Doerr R, Ramos RB, Ong P, Naik SR, Steg PG, Goetschalckx K, Chow BJW, Scherrer-Crosbie M, Phillips L, Mark DB, Spertus JA, Alexander KP, O'Brien SM, Boden WE, Bangalore S, Stone GW, Maron DJ, Hochman JS; ISCHEMIA Research Group. Reynolds HR, et al. Circ Cardiovasc Interv. 2024 Dec;17(12):e013743. doi: 10.1161/CIRCINTERVENTIONS.123.013743. Epub 2024 Dec 17. Circ Cardiovasc Interv. 2024. PMID: 39689188 Clinical Trial.
757 results