Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: NEFH: E463K; rs59371099
Breast cancer quantitative proteome and proteogenomic landscape.
Nature Communications
Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J
Publication Date: 2019-04-08
Variant appearance in text: NEFH: 1387G>A; E463K; rs59371099
Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes.
Bmc Medical Genomics
Lewis, Morag A MA; Nolan, Lisa S LS; Cadge, Barbara A BA; Matthews, Lois J LJ; Schulte, Bradley A BA; Dubno, Judy R JR; Steel, Karen P KP; Dawson, Sally J SJ
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: NEFH: 1387G>A; Glu463Lys; rs59371099
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Brain : A Journal Of Neurology
Morgan, Sarah S; Shatunov, Aleksey A; Sproviero, William W; Jones, Ashley R AR; Shoai, Maryam M; Hughes, Deborah D; Al Khleifat, Ahmad A; Malaspina, Andrea A; Morrison, Karen E KE; Shaw, Pamela J PJ; Shaw, Christopher E CE; Sidle, Katie K; Orrell, Richard W RW; Fratta, Pietro P; Hardy, John J; Pittman, Alan A; Al-Chalabi, Ammar A
Publication Date: 2017-06-01
Variant appearance in text: NEFH: E463K; rs59371099
Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration.
Acta Neuropathologica
Lee, Edward B EB; Porta, Sílvia S; Michael Baer, G G; Xu, Yan Y; Suh, EunRan E; Kwong, Linda K LK; Elman, Lauren L; Grossman, Murray M; Lee, Virginia M-Y VM; Irwin, David J DJ; Van Deerlin, Vivianna M VM; Trojanowski, John Q JQ
Publication Date: 2017-07
Variant appearance in text: NEFH: 1387G>A; Glu463Lys
Whole exome sequencing of extreme age-related macular degeneration phenotypes.
Molecular Vision
Sardell, Rebecca J RJ; Bailey, Jessica N Cooke JN; Courtenay, Monique D MD; Whitehead, Patrice P; Laux, Reneé A RA; Adams, Larry D LD; Fortun, Jorge A JA; Brantley, Milam A MA; Kovach, Jaclyn L JL; Schwartz, Stephen G SG; Agarwal, Anita A; Scott, William K WK; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA
New insights into the genetics of glioblastoma multiforme by familial exome sequencing.
Oncotarget
Backes, Christina C; Harz, Christian C; Fischer, Ulrike U; Schmitt, Jana J; Ludwig, Nicole N; Petersen, Britt-Sabina BS; Mueller, Sabine C SC; Kim, Yoo-Jin YJ; Wolf, Nadine M NM; Katus, Hugo A HA; Meder, Benjamin B; Furtwängler, Rhoikos R; Franke, Andre A; Bohle, Rainer R; Henn, Wolfram W; Graf, Norbert N; Keller, Andreas A; Meese, Eckart E
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: NEFH: E463K; rs59371099