Publications:

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Immune microenvironment of medulloblastoma: The association between its molecular subgroups and potential targeted immunotherapeutic receptors.

World Journal Of Clinical Oncology

Kurdi, Maher M; Mulla, Nasser N; Malibary, Husam H; Bamaga, Ahmed K AK; Fadul, Motaz M MM; Faizo, Eyad E; Hakamy, Sahar S; Baeesa, Saleh S

Publication Date: 2023-03-24

Variant appearance in text: ALK: M1199L

PubMed Link: 37009528

Variant Present in the following documents:

• WJCO-14-117.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: ALK: M1199L

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: ALK: M1199L

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer

Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A

Publication Date: 2020-04-07

Variant appearance in text: ALK: 3595A>C; Met1199Leu

PubMed Link: 32264863

Variant Present in the following documents:

• 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Molecular stratifications, biomarker candidates and new therapeutic options in current medulloblastoma treatment approaches.

Cancer Metastasis Reviews

Menyhárt, Otília O; Győrffy, Balázs B

Publication Date: 2020-03

Variant appearance in text: ALK: M1199L

PubMed Link: 31970590

Variant Present in the following documents:

• 10555_2020_Article_9854.pdf

View BVdb publication page

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Medulloblastoma: optimizing care with a multidisciplinary approach.

Journal Of Multidisciplinary Healthcare

Thomas, Alice A; Noël, Georges G

Publication Date: 2019

Variant appearance in text: ALK: M1199L

PubMed Link: 31118657

Variant Present in the following documents:

• jmdh-12-335.pdf

View BVdb publication page

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: ALK: 3595A>C; Met1199Leu

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

View BVdb publication page

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Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors.

Brain Tumor Pathology

Łastowska, Maria M; Trubicka, Joanna J; Karkucińska-Więckowska, Agnieszka A; Kaleta, Magdalena M; Tarasińska, Magdalena M; Perek-Polnik, Marta M; Sobocińska, Anna Antonina AA; Dembowska-Bagińska, Bożenna B; Grajkowska, Wiesława W; Matyja, Ewa E

Publication Date: 2019-01

Variant appearance in text: ALK: M1199L

PubMed Link: 30523493

Variant Present in the following documents:

• Main text
• 10014_2018_Article_331.pdf

View BVdb publication page

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Structure and energy based quantitative missense variant effect analysis provides insights into drug resistance mechanisms of anaplastic lymphoma kinase mutations.

Scientific Reports

Li, Jianzong J; Huang, Yue Y; Wu, Miaomiao M; Wu, Chuanfang C; Li, Xin X; Bao, Jinku J

Publication Date: 2018-07-13

Variant appearance in text: ALK: M1199L

PubMed Link: 30006516

Variant Present in the following documents:

• 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Atypical bilateral cerebellopontine angle medulloblastoma: differential diagnosis, immunohistochemical features and radiological presentation.

Contemporary Oncology (Poznan, Poland)

Piña Batista, Kelvin M KM; de Eulate-Beramendi, Sayoa Alvarez SA; Rico, María M; Rodrigo, Victor V; Batista Batista, Yordy E YE; Alvarez Reyes, Kenia Y KY

Publication Date: 2017

Variant appearance in text: ALK: M1199L

PubMed Link: 29180935

Variant Present in the following documents:

• WO-21-30474.pdf

View BVdb publication page

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