Publications:

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

Publication Date: 2023-02-08

Variant appearance in text: FBN1: 8519A>G; Lys2840Arg

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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A pancancer overview of FBN1, asprosin and its cognate receptor OR4M1 with detailed expression profiling in ovarian cancer.

Oncology Letters

Kerslake, Rachel R; Hall, Marcia M; Vagnarelli, Paola P; Jeyaneethi, Jeyarooban J; Randeva, Harpal S HS; Pados, George G; Kyrou, Ioannis I; Karteris, Emmanouil E

Publication Date: 2021-09

Variant appearance in text: FBN1: K2840R

PubMed Link: 34386072

Variant Present in the following documents:

• Main text
• ol-22-03-12911.pdf

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Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging

Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B

Publication Date: 2019-06-29

Variant appearance in text: FBN1: 8519A>G

PubMed Link: 31257224

Variant Present in the following documents:

• aging-11-102047-s002.xlsx, sheet 13
• aging-11-102047-s002.xlsx, sheet 11
• aging-11-102047-s002.xlsx, sheet 12

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: FBN1: K2840R

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-4.xlsx, sheet 1

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