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Year Number of Results
1956 1
1966 1
1991 2
1998 1
2001 2
2002 1
2004 1
2005 2
2006 3
2007 4
2008 2
2009 3
2010 1
2011 4
2012 3
2013 3
2014 7
2015 2
2016 5
2017 7
2018 2
2019 4
2020 4
2021 3
2022 6
2023 4
2024 1

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72 results

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Page 1
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group; Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati… See abstract for full author list ➔ Barc J, et al. Among authors: giachino df. Nat Genet. 2022 Mar;54(3):232-239. doi: 10.1038/s41588-021-01007-6. Epub 2022 Feb 24. Nat Genet. 2022. PMID: 35210625 Free PMC article.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: giachino d. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF See abstract for full author list ➔ Walsh R, et al. Among authors: giachino df. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893267 Free PMC article.
Randomized, Double-Blind, Placebo-Controlled Crossover Trial of Once Daily Empagliflozin 25 mg for the Treatment of Postprandial Hypoglycemia After Roux-en-Y Gastric Bypass.
Ferreira A, Schönenberger KA, Potoczna N, Vogt A, Gerber PA, Zehetner J, Giachino D, Nett P, Gawinecka J, Cossu L, Fuster DG, Dalla Man C, Facchinetti A, Melmer A, Nakas CT, Hepprich M, Donath MY, Herzig D, Bally L. Ferreira A, et al. Among authors: giachino d. Diabetes Technol Ther. 2023 Jul;25(7):467-475. doi: 10.1089/dia.2023.0036. Epub 2023 Jun 5. Diabetes Technol Ther. 2023. PMID: 37093196 Free article. Clinical Trial.
Counter-regulatory responses to postprandial hypoglycaemia in patients with post-bariatric hypoglycaemia vs surgical and non-surgical control individuals.
Tripyla A, Herzig D, Reverter-Branchat G, Pavan J, Schiavon M, Eugster PJ, Grouzmann E, Nakas CT, Sauvinet V, Meiller L, Zehetner J, Giachino D, Nett P, Gawinecka J, Del Favero S, Thomas A, Thevis M, Dalla Man C, Bally L. Tripyla A, et al. Among authors: giachino d. Diabetologia. 2023 Apr;66(4):741-753. doi: 10.1007/s00125-022-05861-9. Epub 2023 Jan 17. Diabetologia. 2023. PMID: 36648553 Free PMC article.
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group; Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati… See abstract for full author list ➔ Barc J, et al. Among authors: giachino df. Nat Genet. 2022 May;54(5):735. doi: 10.1038/s41588-022-01079-y. Nat Genet. 2022. PMID: 35474365 No abstract available.
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.
Sculco M, La Vecchia M, Aspesi A, Clavenna MG, Salvo M, Borgonovi G, Pittaro A, Witel G, Napoli F, Listì A, Grosso F, Libener R, Maconi A, Rena O, Boldorini R, Giachino D, Bironzo P, Maffè A, Alì G, Elefanti L, Menin C, Righi L, Tampieri C, Scagliotti GV, Dianzani C, Ferrante D, Migliore E, Magnani C, Mirabelli D, Matullo G, Dianzani I. Sculco M, et al. Among authors: giachino d. Diagnostics (Basel). 2022 Jul 13;12(7):1710. doi: 10.3390/diagnostics12071710. Diagnostics (Basel). 2022. PMID: 35885614 Free PMC article.
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
Sculco M, La Vecchia M, Aspesi A, Pinton G, Clavenna MG, Casalone E, Allione A, Grosso F, Libener R, Muzio A, Rena O, Baietto G, Parini S, Boldorini R, Giachino D, Papotti M, Scagliotti GV, Migliore E, Mirabelli D, Moro L, Magnani C, Ferrante D, Matullo G, Dianzani I. Sculco M, et al. Among authors: giachino d. Eur J Cancer. 2022 Mar;163:44-54. doi: 10.1016/j.ejca.2021.12.023. Epub 2022 Jan 13. Eur J Cancer. 2022. PMID: 35032816 Free article.
Workload measurement for molecular genetics laboratory: A survey study.
Tagliafico E, Bernardis I, Grasso M, D'Apice MR, Lapucci C, Botta A, Giachino DF, Marinelli M, Primignani P, Russo S, Sani I, Seia M, Fini S, Rimessi P, Tenedini E, Ravani A, Genuardi M, Ferlini A; Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU. Tagliafico E, et al. Among authors: giachino df. PLoS One. 2018 Nov 27;13(11):e0206855. doi: 10.1371/journal.pone.0206855. eCollection 2018. PLoS One. 2018. PMID: 30481188 Free PMC article.
72 results