Publications:

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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: RET: 3233C>T; Thr1078Met

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: RET: T1078M; rs762952212

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers.

Nature Communications

Rosen, Ezra Y EY; Won, Helen H HH; Zheng, Youyun Y; Cocco, Emiliano E; Selcuklu, Duygu D; Gong, Yixiao Y; Friedman, Noah D ND; de Bruijn, Ino I; Sumer, Onur O; Bielski, Craig M CM; Savin, Casey C; Bourque, Caitlin C; Falcon, Christina C; Clarke, Nikeysha N; Jing, Xiaohong X; Meng, Fanli F; Zimel, Catherine C; Shifman, Sophie S; Kittane, Srushti S; Wu, Fan F; Ladanyi, Marc M; Ebata, Kevin K; Kherani, Jennifer J; Brandhuber, Barbara J BJ; Fagin, James J; Sherman, Eric J EJ; Rekhtman, Natasha N; Berger, Michael F MF; Scaltriti, Maurizio M; Hyman, David M DM; Taylor, Barry S BS; Drilon, Alexander A

Publication Date: 2022-03-18

Variant appearance in text: RET: T1078M

PubMed Link: 35304457

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28848.pdf
• 41467_2022_28848_MOESM1_ESM.pdf

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: RET: 3233C>T; T1078M

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: RET: Thr1078Met

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Leukemia

Bolli, Niccolo N; Biancon, Giulia G; Moarii, Matahi M; Gimondi, Silvia S; Li, Yilong Y; de Philippis, Chiara C; Maura, Francesco F; Sathiaseelan, Vijitha V; Tai, Yu-Tzu YT; Mudie, Laura L; O'Meara, Sarah S; Raine, Keiran K; Teague, Jon W JW; Butler, Adam P AP; Carniti, Cristiana C; Gerstung, Moritz M; Bagratuni, Tina T; Kastritis, Efstathios E; Dimopoulos, Meletios M; Corradini, Paolo P; Anderson, Kenneth C KC; Moreau, Philippe P; Minvielle, Stephane S; Campbell, Peter J PJ; Papaemmanuil, Elli E; Avet-Loiseau, Herve H; Munshi, Nikhil C NC

Publication Date: 2018-12

Variant appearance in text: RET: T1078M

PubMed Link: 29789651

Variant Present in the following documents:

• 41375_2018_37_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: RET: T1078M

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: RET: T1078M

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

View BVdb publication page

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Detection of Crizotinib-Sensitive Lung Adenocarcinomas With MET, ALK, and ROS1 Genomic Alterations via Comprehensive Genomic Profiling.

Clinical Lung Cancer

Le, Xiuning X; Freed, Jason A JA; VanderLaan, Paul A PA; Huberman, Mark S MS; Rangachari, Deepa D; Jorge, Susan E SE; Lucena-Araujo, Antonio R AR; Kobayashi, Susumu S SS; Balasubramanian, Sohail S; He, Jie J; Chudnovsky, Yakov Y; Miller, Vincent A VA; Ali, Siraj M SM; Costa, Daniel B DB

Publication Date: 2015-09

Variant appearance in text: RET: T1078M

PubMed Link: 25922291

Variant Present in the following documents:

• Main text

View BVdb publication page

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