Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Targeting Oncogenic Pathways in the Era of Personalized Oncology: A Systemic Analysis Reveals Highly Mutated Signaling Pathways in Cancer Patients and Potential Therapeutic Targets.
Cancers
Karagiannakos, Alexandros A; Adamaki, Maria M; Tsintarakis, Antonis A; Vojtesek, Borek B; Fåhraeus, Robin R; Zoumpourlis, Vassilis V; Karakostis, Konstantinos K
Targeting Oncogenic Pathways in the Era of Personalized Oncology: A Systemic Analysis Reveals Highly Mutated Signaling Pathways in Cancer Patients and Potential Therapeutic Targets.
Cancers
Karagiannakos, Alexandros A; Adamaki, Maria M; Tsintarakis, Antonis A; Vojtesek, Borek B; Fåhraeus, Robin R; Zoumpourlis, Vassilis V; Karakostis, Konstantinos K
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
European Journal Of Human Genetics : Ejhg
Fokkema, Ivo F A C IFAC; Kroon, Mark M; López Hernández, Julia A JA; Asscheman, Daan D; Lugtenburg, Ivar I; Hoogenboom, Jerry J; den Dunnen, Johan T JT
Publication Date: 2021-12
Variant appearance in text: CDKN2A: 457G>T; Asp153Tyr
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Chaffee, Kari G KG; Oberg, Ann L AL; McWilliams, Robert R RR; Majithia, Neil N; Allen, Brian A BA; Kidd, John J; Singh, Nanda N; Hartman, Anne-Renee AR; Wenstrup, Richard J RJ; Petersen, Gloria M GM
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Zhen, David B DB; Rabe, Kari G KG; Gallinger, Steven S; Syngal, Sapna S; Schwartz, Ann G AG; Goggins, Michael G MG; Hruban, Ralph H RH; Cote, Michele L ML; McWilliams, Robert R RR; Roberts, Nicholas J NJ; Cannon-Albright, Lisa A LA; Li, Donghui D; Moyes, Kelsey K; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Seminara, Daniela D; Klein, Alison P AP; Petersen, Gloria M GM
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Journal Of The National Cancer Institute
Demenais, F F; Mohamdi, H H; Chaudru, V V; Goldstein, A M AM; Newton Bishop, J A JA; Bishop, D T DT; Kanetsky, P A PA; Hayward, N K NK; Gillanders, E E; Elder, D E DE; Avril, M F MF; Azizi, E E; van Belle, P P; Bergman, W W; Bianchi-Scarrà, G G; Bressac-de Paillerets, B B; Calista, D D; Carrera, C C; Hansson, J J; Harland, M M; Hogg, D D; Höiom, V V; Holland, E A EA; Ingvar, C C; Landi, M T MT; Lang, J M JM; Mackie, R M RM; Mann, G J GJ; Ming, M E ME; Njauw, C J CJ; Olsson, H H; Palmer, J J; Pastorino, L L; Puig, S S; Randerson-Moor, J J; Stark, M M; Tsao, H H; Tucker, M A MA; van der Velden, P P; Yang, X R XR; Gruis, N N; ,