Publications:

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Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Frontiers In Oncology

Butz, Henriett H; Lövey, József J; Szentkereszty, Márton M; Bozsik, Anikó A; Tóth, Erika E; Patócs, Attila A

Publication Date: 2022

Variant appearance in text: KIF13A: 4863C>G; D1621E; rs41267712

PubMed Link: 35419288

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia.

Bmc Psychiatry

Sardaar, Sameer S; Qi, Bill B; Dionne-Laporte, Alexandre A; Rouleau, Guy A GA; Rabbany, Reihaneh R; Trakadis, Yannis J YJ

Publication Date: 2020-02-28

Variant appearance in text: rs41267712

PubMed Link: 32111185

Variant Present in the following documents:

• Main text
• 12888_2020_Article_2503.pdf

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: rs41267712

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatology Communications

Kleinstein, Sarah E SE; Rein, Matthew M; Abdelmalek, Manal F MF; Guy, Cynthia D CD; Goldstein, David B DB; Mae Diehl, Anna A; Moylan, Cynthia A CA

Publication Date: 2018-09

Variant appearance in text: KIF13A: D1621E; rs41267712

PubMed Link: 30202817

Variant Present in the following documents:

• HEP4-2-1021-s001.xlsx, sheet 5

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: KIF13A: D1621E; rs41267712

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: KIF13A: D1621E; rs41267712

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: KIF13A: D1621E; rs41267712

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: KIF13A: D1621E

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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