Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.

Autor: Tafaleng, Edgar N., Li, Jie, Wang, Yan, Hidvegi, Tunda, Soto-Gutierrez, Alex, Locke, Adam E., Nicholas, Thomas J., Wang, Yung-Chun, Pak, Stephen, Cho, Michael H., Silverman, Edwin K., Silverman, Gary A., Jin, Sheng Chih, Fox, Ira J., Perlmutter, David H.

Publikováno v: Hepatology (02709139); Oct2024, Vol. 80 Issue 4, p859-871, 13p

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

Autor: Belyeu, Jonathan R., Brand, Harrison, Wang, Harold, Zhao, Xuefang, Pedersen, Brent S., Feusier, Julie, Gupta, Meenal, Nicholas, Thomas J., Brown, Joseph, Baird, Lisa, Devlin, Bernie, Sanders, Stephan J., Jorde, Lynn B., Talkowski, Michael E., Quinlan, Aaron R.

Publikováno v: In The American Journal of Human Genetics 1 April 2021 108(4):597-607

Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate.

Autor: Nicholas, Thomas J.¹ (AUTHOR) thomas.nicholas@utah.edu, Cormier, Michael J.¹ (AUTHOR), Quinlan, Aaron R.^1,2 (AUTHOR)

Publikováno v: BMC Bioinformatics. 11/16/2022 Supplement, Vol. 22 Issue 14, p1-17. 17p.

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

Autor: Nicholas, Thomas J.¹ (AUTHOR) thomas.nicholas@utah.edu, Al‐Sweel, Najla^2,3 (AUTHOR), Farrell, Andrew¹ (AUTHOR), Mao, Rong^2,3 (AUTHOR), Bayrak‐Toydemir, Pinar^2,3 (AUTHOR), Miller, Christine E.² (AUTHOR), Bentley, Dawn⁴ (AUTHOR), Palmquist, Rachel^5,6 (AUTHOR), Moore, Barry¹ (AUTHOR), Hernandez, Edgar J.¹ (AUTHOR), Cormier, Michael J.¹ (AUTHOR), Fredrickson, Eric² (AUTHOR), Noble, Katherine² (AUTHOR), Rynearson, Shawn¹ (AUTHOR), Holt, Carson¹ (AUTHOR), Karren, Mary Anne¹ (AUTHOR), Bonkowsky, Joshua L.^5,6 (AUTHOR), Tristani‐Firouzi, Martin⁷ (AUTHOR), Yandell, Mark¹ (AUTHOR), Marth, Gabor¹ (AUTHOR)

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Additional file 1 of Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate

Autor: Nicholas, Thomas J., Cormier, Michael J., Quinlan, Aaron R.

Additional file 1: Word document containing additional figures and tables.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0967eaae726e0ac57346d1d1c4557b