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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Lin SJ, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C, Severino M, Stanley V, Varshney P, Bahena P, Alzahrani F, Alhashem A, Pagnamenta AT, Aubertin G, Estrada-Veras JI, Hernández HAD, Mazaheri N, Oza A, Thies J, Renaud DL, Dugad S, McEvoy J, Sultan T, Pais LS, Tabarki B, Villalobos-Ramirez D, Rad A; Genomics England Research Consortium; Galehdari H, Ashrafzadeh F, Sahebzamani A, Saeidi K, Torti E, Elloumi HZ, Mora S, Palculict TB, Yang H, Wren JD, Ben Fowler, Joshi M, Behra M, Burgess SM, Nath SK, Hanna MG, Kenna M, Merritt JL 2nd, Houlden H, Karimiani EG, Zaki MS, Haaf T, Alkuraya FS, Gleeson JG, Varshney GK. Lin SJ, et al. Among authors: aubertin g. Genet Med. 2021 Oct;23(10):1933-1943. doi: 10.1038/s41436-021-01239-1. Epub 2021 Jun 25. Genet Med. 2021. PMID: 34172899 Free PMC article.
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, Cuccuru G, Van Allen MI, Hulait G, Aubertin G, Muntoni F, Fry AE, Annerén G, Stattin EL, Palomares-Bralo M, Santos-Simarro F, Cucca F, Crisponi G, Rutsch F, Crisponi L. Angius A, et al. Among authors: aubertin g. Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30859550
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: aubertin g. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
Integrating Tumor Sequencing Into Clinical Practice for Patients With Mismatch Repair-Deficient Lynch Syndrome Spectrum Cancers.
Dixon K, Asrat MJ, Bedard AC, Binnington K, Compton K, Cremin C, Heidary N, Lohn Z, Lovick N, McCullum M, Mindlin A, O'Loughlin M, Petersen T, Portigal-Todd C, Scott J, St-Martin G, Thompson J, Turnbull R, Mung SW, Hong Q, Bezeau M, Bosdet I, Tucker T, Young S, Yip S, Aubertin G, Blood KA, Nuk J, Sun S, Schrader KA. Dixon K, et al. Among authors: aubertin g. Clin Transl Gastroenterol. 2021 Aug 16;12(8):e00397. doi: 10.14309/ctg.0000000000000397. Clin Transl Gastroenterol. 2021. PMID: 34397043 Free PMC article.
Diagnosis of Idiopathic Growth Hormone Deficiency: Contributions of Data on the Acid-labile Subunit, Insulin-like Growth Factor (IGF)-I and-II, and IGF Binding Protein-3.
Trivin C, Souberbielle JC, Aubertin G, Lawson-Body E, Adan L, Brauner R. Trivin C, et al. Among authors: aubertin g. J Pediatr Endocrinol Metab. 2023 Nov 2;19(4):481-490. doi: 10.1515/jpem-2006-190405. Print 2006 Apr 1. J Pediatr Endocrinol Metab. 2023. PMID: 38742792 No abstract available.
Corrigendum to 'Management of obstructive sleep apnea syndrome type 1 in children and adolescents - A French consensus' [Arch Pediatr (2023) 510-16].
Aubertin G, Akkari M, Andrieux A, Colas des Francs C, Fauroux B, Franco P, Gagnadoux F, Gallet de Santerre O, Grollemund B, Hartley S, Jaffuel D, Lafond L, Schröder CM, Schweitzer C, Charley-Monaca C. Aubertin G, et al. Arch Pediatr. 2024 Apr;31(3):214-215. doi: 10.1016/j.arcped.2024.02.001. Epub 2024 Mar 26. Arch Pediatr. 2024. PMID: 38538468 No abstract available.
70 results