Publications:

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The genomic landscape of familial glioma.

Science Advances

Choi, Dong-Joo DJ; Armstrong, Georgina G; Lozzi, Brittney B; Vijayaraghavan, Prashanth P; Plon, Sharon E SE; Wong, Terence C TC; Boerwinkle, Eric E; Muzny, Donna M DM; Chen, Hsiao-Chi HC; Gibbs, Richard A RA; Ostrom, Quinn T QT; Melin, Beatrice B; Deneen, Benjamin B; Bondy, Melissa L ML; , ; , ; Bainbridge, Matthew N MN; Amos, Christopher I CI; Barnholtz-Sloan, Jill S JS; Bernstein, Jonine L JL; Claus, Elizabeth B EB; Houlston, Richard S RS; Il'yasova, Dora D; Jenkins, Robert B RB; Johansen, Christoffer C; Lachance, Daniel D; Lai, Rose R; Melin, Beatrice S BS; Merrell, Ryan T RT; Olson, Sara H SH; Sadetzki, Siegal S; Schildkraut, Joellen J; Shete, Sanjay S; Ambrose, J C JC; Arumugam, P P; Bevers, R R; Bleda, M M; Boardman-Pretty, F F; Boustred, C R CR; Brittain, H H; Brown, M A MA; Caulfield, M J MJ; Chan, G C GC; Giess, A A; Griffin, J N JN; Hamblin, A A; Henderson, S S; Hubbard, T J P TJP; Jackson, R R; Jones, L J LJ; Kasperaviciute, D D; Kayikci, M M; Kousathanas, A A; Lahnstein, L L; Lakey, A A; Leigh, S E A SEA; Leong, I U S IUS; Lopez, F J FJ; Maleady-Crowe, F F; McEntagart, M M; Minneci, F F; Mitchell, J J; Moutsianas, L L; Mueller, M M; Murugaesu, N N; Need, A C AC; O'Donovan, P P; Odhams, C A CA; Patch, C C; Perez-Gil, D D; Pereira, M B MB; Pullinger, J J; Rahim, T T; Rendon, A A; Rogers, T T; Savage, K K; Sawant, K K; Scott, R H RH; Siddiq, A A; Sieghart, A A; Smith, S C SC; Sosinsky, A A; Stuckey, A A; Tanguy, M M; Taylor Tavares, A L AL; Thomas, E R A ERA; Thompson, S R SR; Tucci, A A; Welland, M J MJ; Williams, E E; Witkowska, K K; Wood, S M SM; Zarowiecki, M M

Publication Date: 2023-04-28

Variant appearance in text: LRRK2: R1334Q

PubMed Link: 37115922

Variant Present in the following documents:

• Main text
• sciadv.ade2675.pdf

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: LRRK2: R1334Q

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: LRRK2: R1334Q

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Molecular Neurodegeneration

Gialluisi, Alessandro A; Reccia, Mafalda Giovanna MG; Modugno, Nicola N; Nutile, Teresa T; Lombardi, Alessia A; Di Giovannantonio, Luca Giovanni LG; Pietracupa, Sara S; Ruggiero, Daniela D; Scala, Simona S; Gambardella, Stefano S; , ; Iacoviello, Licia L; Gianfrancesco, Fernando F; Acampora, Dario D; D'Esposito, Maurizio M; Simeone, Antonio A; Ciullo, Marina M; Esposito, Teresa T

Publication Date: 2021-06-21

Variant appearance in text: LRRK2: R1334Q; rs772964685

PubMed Link: 34148545

Variant Present in the following documents:

• 13024_2021_455_MOESM1_ESM.pdf

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A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.

Molecular Genetics & Genomic Medicine

Kaiyrzhanov, Rauan R; Aitkulova, Akbota A; Vandrovcova, Jana J; Murphy, David D; Zharkinbekova, Nazira N; Shashkin, Chingiz C; Akhmetzhanov, Vadim V; Kaishibayeva, Gulnaz G; Karimova, Altynay A; Myrzayev, Zhanybek Z; Murray, Malgorzata M; Khaibullin, Talgat T; Hardy, John J; Houlden, Henry H

Publication Date: 2021-06

Variant appearance in text: LRRK2: 4001G>A; Arg1334Gln; rs772964685

PubMed Link: 33818904

Variant Present in the following documents:

• Main text
• MGG3-9-e1671.pdf

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A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.

Molecular Genetics & Genomic Medicine

Kaiyrzhanov, Rauan R; Aitkulova, Akbota A; Vandrovcova, Jana J; Murphy, David D; Zharkinbekova, Nazira N; Shashkin, Chingiz C; Akhmetzhanov, Vadim V; Kaishibayeva, Gulnaz G; Karimova, Altynay A; Myrzayev, Zhanybek Z; Murray, Malgorzata M; Khaibullin, Talgat T; Hardy, John J; Houlden, Henry H

Publication Date: 2021-06

Variant appearance in text: LRRK2: 4001G>A; Arg1334Gln; rs772964685

PubMed Link: 33818904

Variant Present in the following documents:

• Main text
• MGG3-9-e1671.pdf

View BVdb publication page

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: LRRK2: R1334Q

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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