Journal of Medical Genetics container_h4x5oiufxvdpxb6kfbjrpd6ble


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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

Eva Lenassi, Ana Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, Tracy Fletcher, Claire Hardcastle, Javier Lopez, Sarah E Hunt, Patrick Short, Panos Sergouniotis, Michel Michaelides (+8 others)
2023 | Journal of Medical Genetics
doi:10.1136/jmg-2022-108618   pmid:36669873  

<i>FXN</i>gene methylation determines carrier status in Friedreich ataxia

Christina Lam, Kaitlyn M Gilliam, Layne N Rodden, Kimberly A Schadt, David R Lynch, Sanjay Bidichandani
2023 | Journal of Medical Genetics
doi:10.1136/jmg-2022-108742   pmid:36635061  

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome

Vincent Schwenk, Leal R., Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter Wolf
2023 | Journal of Medical Genetics
doi:10.1136/jmg-2022-108931   pmid:36593122  
Known Releases
Preservation Summary [more]
11,673 preserved and accessble (bright)
1,621 preserved, inaccessible (dark)
0 no known preservation
Release Types
article-journal 13,064
letter 205
book 9
editorial 9
unknown-type 6
retraction 1
Publication Type  journal
Country Code  gb
ISSN-L?  0022-2593
    Print:  0022-2593
    Electronic:  1468-6244
Wikidata  Q14640281  sim_pubid:8651
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Revision: cefaaa69-6be3-4bf3-a830-799b1de468bc