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Year Number of Results
2018 6
2019 5
2020 3
2021 8
2022 4
2023 1
2024 1

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23 results

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Page 1
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Hopkins PM, Kraeva N, Ognoon M, Radenbaugh KB, Riazi S, Robinson RL, Saddic Iii LA, Sambuughin N, Saxena R, Shepherd S, Stowell K, Weber J, Yoo S, Rosenberg H, Biesecker LG. Johnston JJ, et al. Hum Mol Genet. 2022 Nov 28;31(23):4087-4093. doi: 10.1093/hmg/ddac145. Hum Mol Genet. 2022. PMID: 35849058 Free PMC article.
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
Karaa A, MacMullen LE, Campbell JC, Christodoulou J, Cohen BH, Klopstock T, Koga Y, Lamperti C, van Maanen R, McFarland R, Parikh S, Rahman S, Scaglia F, Sherman AV, Yeske P, Falk MJ. Karaa A, et al. Adv Genet (Hoboken). 2022 Mar;3(1):2100047. doi: 10.1002/ggn2.202100047. Epub 2021 Dec 19. Adv Genet (Hoboken). 2022. PMID: 35317023 Free PMC article.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ. Wang J, et al. Mol Genet Metab. 2022 Jan;135(1):93-101. doi: 10.1016/j.ymgme.2021.12.006. Epub 2021 Dec 18. Mol Genet Metab. 2022. PMID: 34969639 Free PMC article.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. Chora JR, et al. Genet Med. 2022 Feb;24(2):293-306. doi: 10.1016/j.gim.2021.09.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906454 Free article.
Improving reporting standards for polygenic scores in risk prediction studies.
Wand H, Lambert SA, Tamburro C, Iacocca MA, O'Sullivan JW, Sillari C, Kullo IJ, Rowley R, Dron JS, Brockman D, Venner E, McCarthy MI, Antoniou AC, Easton DF, Hegele RA, Khera AV, Chatterjee N, Kooperberg C, Edwards K, Vlessis K, Kinnear K, Danesh JN, Parkinson H, Ramos EM, Roberts MC, Ormond KE, Khoury MJ, Janssens ACJW, Goddard KAB, Kraft P, MacArthur JAL, Inouye M, Wojcik GL. Wand H, et al. Nature. 2021 Mar;591(7849):211-219. doi: 10.1038/s41586-021-03243-6. Epub 2021 Mar 10. Nature. 2021. PMID: 33692554 Free PMC article. Review.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Morales A, Ing A, Antolik C, Austin-Tse C, Baudhuin LM, Bronicki L, Cirino A, Hawley MH, Fietz M, Garcia J, Ho C, Ingles J, Jarinova O, Johnston T, Kelly MA, Kurtz CL, Lebo M, Macaya D, Mahanta L, Maleszewski J, Manrai AK, Murray M, Richard G, Semsarian C, Thomson KL, Winder T, Ware JS, Hershberger RE, Funke BH, Vatta M; ClinGen Cardiovascular Clinical Domain Working Group; Cardiomyopathy Variant Curation Expert Panel. Morales A, et al. J Mol Diagn. 2021 May;23(5):589-598. doi: 10.1016/j.jmoldx.2021.01.014. Epub 2021 Feb 22. J Mol Diagn. 2021. PMID: 33631351 Free PMC article.
23 results