Identifying potential germline variants from sequencing hematopoietic malignancies.
Kraft IL, Godley LA. Identifying potential germline variants from sequencing hematopoietic malignancies. Hematology Am Soc Hematol Educ Program. 2020 12 04; 2020(1):219-227.
PMID: 33275754
Identifying potential germline variants from sequencing hematopoietic malignancies.
Kraft IL, Godley LA. Identifying potential germline variants from sequencing hematopoietic malignancies. Blood. 2020 Nov 26; 136(22):2498-2506.
PMID: 33236764
Regulation of telomeric function by DNA methylation differs between humans and mice.
Toubiana S, Larom G, Smoom R, Duszynski RJ, Godley LA, Francastel C, Velasco G, Selig S. Regulation of telomeric function by DNA methylation differs between humans and mice. Hum Mol Genet. 2020 Nov 25; 29(19):3197-3210.
PMID: 32916696
Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
Trottier AM, Druhan LJ, Kraft IL, Lance A, Feurstein S, Helgeson M, Segal JP, Das S, Avalos BR, Godley LA. Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies. Blood Adv. 2020 Oct 27; 4(20):5269-5284.
PMID: 33108454
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Feurstein S, Adegunsoye A, Mojsilovic D, Vij R, West DePersia AH, Rajagopal PS, Osman A, Collins RH, Kim RH, Gore SD, Greenberg P, Godley LA, Li Z, Del Gaudio D, Subramanian HP, Das S, Walsh T, Gulsuner S, Segal JP, Husain AN, Gurbuxani S, King MC, Strek ME, Churpek JE. Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations. Blood Adv. 2020 Oct 13; 4(19):4873-4886.
PMID: 33035329
Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies.
Roloff GW, Godley LA, Drazer MW. Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies. Genet Med. 2020 Aug 18.
PMID: 32807974
HIF-1 directly induces TET3 expression to enhance 5-hmC density and induce erythroid gene expression in hypoxia.
Cao JZ, Liu H, Wickrema A, Godley LA. HIF-1 directly induces TET3 expression to enhance 5-hmC density and induce erythroid gene expression in hypoxia. Blood Adv. 2020 Jul 14; 4(13):3053-3062.
PMID: 32634239
Breaking the spatial constraint between neighboring zinc fingers: a new germline mutation in GATA2 deficiency syndrome.
Cavalcante de Andrade Silva M, Katsumura KR, Mehta C, Velloso EDRP, Bresnick EH, Godley LA. Breaking the spatial constraint between neighboring zinc fingers: a new germline mutation in GATA2 deficiency syndrome. Leukemia. 2020 Apr 14.
PMID: 32286542
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL, Arts P, Carmichael CL, Babic M, Dobbins J, Chong CE, Schreiber AW, Feng J, Phillips K, Wang PPS, Ha T, Homan CC, King-Smith SL, Rawlings L, Vakulin C, Dubowsky A, Burdett J, Moore S, McKavanagh G, Henry D, Wells A, Mercorella B, Nicola M, Suttle J, Wilkins E, Li XC, Michaud J, Brautigan P, Cannon P, Altree M, Jaensch L, Fine M, Butcher C, D'Andrea RJ, Lewis ID, Hiwase DK, Papaemmanuil E, Horwitz MS, Natsoulis G, Rienhoff HY, Patton N, Mapp S, Susman R, Morgan S, Cooney J, Currie M, Popat U, Bochtler T, Izraeli S, Bradstock K, Godley LA, Krämer A, Fröhling S, Wei AH, Forsyth C, Mar Fan H, Poplawski NK, Hahn CN, Scott HS. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Adv. 2020 03 24; 4(6):1131-1144.
PMID: 32208489
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Wu D, Luo X, Feurstein S, Kesserwan C, Mohan S, Pineda-Alvarez DE, Godley LA. How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies. Haematologica. 2020 04; 105(4):870-887.
PMID: 32165484