Publications:

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: FLNC: 1600G>A; rs201905890

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

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: FLNC: 1600G>A; E534K; rs201905890

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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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: FLNC: E534K

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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A mutation update for the FLNC gene in myopathies and cardiomyopathies.

Human Mutation

Verdonschot, Job A J JAJ; Vanhoutte, Els K EK; Claes, Godelieve R F GRF; Helderman-van den Enden, Apollonia T J M ATJM; Hoeijmakers, Janneke G J JGJ; Hellebrekers, Debby M E I DMEI; de Haan, Amber A; Christiaans, Imke I; Lekanne Deprez, Ronald H RH; Boen, Hanne M HM; van Craenenbroeck, Emeline M EM; Loeys, Bart L BL; Hoedemaekers, Yvonne M YM; Marcelis, Carlo C; Kempers, Marlies M; Brusse, Esther E; van Waning, Jaap I JI; Baas, Annette F AF; Dooijes, Dennis D; Asselbergs, Folkert W FW; Barge-Schaapveld, Daniela Q C M DQCM; Koopman, Pieter P; van den Wijngaard, Arthur A; Heymans, Stephane R B SRB; Krapels, Ingrid P C IPC; Brunner, Han G HG

Publication Date: 2020-06

Variant appearance in text: FLNC: 1600G>A; Glu534Lys

PubMed Link: 32112656

Variant Present in the following documents:

• HUMU-41-1091-s001.pdf

View BVdb publication page

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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: FLNC: 1600G>A; Glu534Lys; rs201905890

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: FLNC: E534K; rs201905890

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: FLNC: E534K; rs201905890

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: FLNC: 1600G>A; E534K

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.

Acta Neuropathologica Communications

Janssens, Jonathan J; Philtjens, Stéphanie S; Kleinberger, Gernot G; Van Mossevelde, Sara S; van der Zee, Julie J; Cacace, Rita R; Engelborghs, Sebastiaan S; Sieben, Anne A; Banzhaf-Strathmann, Julia J; Dillen, Lubina L; Merlin, Céline C; Cuijt, Ivy I; Robberecht, Caroline C; Schmid, Bettina B; Santens, Patrick P; Ivanoiu, Adrian A; Vandenbulcke, Mathieu M; Vandenberghe, Rik R; Cras, Patrick P; De Deyn, Peter P PP; Martin, Jean-Jacques JJ; Maudsley, Stuart S; Haass, Christian C; Cruts, Marc M; Van Broeckhoven, Christine C; ,

Publication Date: 2015-11-10

Variant appearance in text: FLNC: E534K; rs201905890

PubMed Link: 26555887

Variant Present in the following documents:

View BVdb publication page

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