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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET, Burns C, Marsili L, Corden B, Parikh VN, Te Meerman GJ, Gray B, Adiyaman A, Bagnall RD, Barge-Schaapveld DQCM, van den Berg MP, Bootsma M, Bosman LP, Correnti G, Duflou J, Eppinga RN, Fatkin D, Fietz M, Haan E, Jongbloed JDH, Hauer AD, Lam L, van Lint FHM, Lota A, Marcelis C, McCarthy HJ, van Mil AM, Oldenburg RA, Pachter N, Planken RN, Reuter C, Semsarian C, van der Smagt JJ, Thompson T, Vohra J, Volders PGA, van Waning JI, Whiffin N, van den Wijngaard A, Amin AS, Wilde AAM, van Woerden G, Yeates L, Zentner D, Ashley EA, Wheeler MT, Ware JS, van Tintelen JP, Ingles J. Hoorntje ET, et al. Among authors: fietz m. Circ Genom Precis Med. 2023 Feb;16(1):e003672. doi: 10.1161/CIRCGEN.121.003672. Epub 2022 Dec 29. Circ Genom Precis Med. 2023. PMID: 36580316 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. Among authors: fietz m. 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.
Increased Risk of Autopsy-Proven Pneumonia with Sex, Season and Neurodegenerative Disease.
Beach TG, Russell A, Sue LI, Intorcia AJ, Glass MJ, Walker JE, Arce R, Nelson CM, Hidalgo T, Chiarolanza G, Mariner M, Scroggins A, Pullen J, Souders L, Sivananthan K, Carter N, Saxon-LaBelle M, Hoffman B, Garcia A, Callan M, Fornwalt BE, Carew J, Filon J, Cutler B, Papa J, Curry JR, Oliver J, Shprecher D, Atri A, Belden C, Shill HA, Driver-Dunckley E, Mehta SH, Adler CH, Haarer CF, Ruhlen T, Torres M, Nguyen S, Schmitt D, Fietz M, Lue LF, Walker DG, Mizgerd JP, Serrano GE. Beach TG, et al. Among authors: fietz m. medRxiv [Preprint]. 2021 Jan 8:2021.01.07.21249410. doi: 10.1101/2021.01.07.21249410. medRxiv. 2021. PMID: 33442709 Free PMC article. Preprint.
Neuronal ceroid lipofuscinosis type 2: an Australian case series.
Johnson AM, Mandelstam S, Andrews I, Boysen K, Yaplito-Lee J, Fietz M, Nagarajan L, Rodriguez-Casero V, Ryan MM, Smith N, Scheffer IE, Ellaway C. Johnson AM, et al. Among authors: fietz m. J Paediatr Child Health. 2020 Aug;56(8):1210-1218. doi: 10.1111/jpc.14890. Epub 2020 Apr 24. J Paediatr Child Health. 2020. PMID: 32329550 Free PMC article.
β-Mannosidosis in German Shepherd Dogs.
Jolly RD, Dittmer KE, Garrick DJ, Chernyavtseva A, Hemsley KM, King B, Fietz M, Shackleton NM, Fairley R, Wylie K. Jolly RD, et al. Among authors: fietz m. Vet Pathol. 2019 Sep;56(5):743-748. doi: 10.1177/0300985819839239. Epub 2019 Apr 14. Vet Pathol. 2019. PMID: 30983534
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Fietz M, et al. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25. Mol Genet Metab. 2016. PMID: 27553878 Free article.
What's Wrong with the Transferrin?
Wijeratne N, Tudball R, Choy KW, Fietz M, Doery JC. Wijeratne N, et al. Among authors: fietz m. Clin Chem. 2016 Feb;62(2):413-4. doi: 10.1373/clinchem.2015.241083. Clin Chem. 2016. PMID: 26823612 No abstract available.
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: fietz m. Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26. Case Rep Genet. 2015. PMID: 26587300 Free PMC article.
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