Publications:

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ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene

Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I

Publication Date: 2021-04

Variant appearance in text: LMNA: 357C>T; R119R

PubMed Link: 33742126

Variant Present in the following documents:

• EMS118565-supplement-Suppl__Table_3.xlsx, sheet 1

View BVdb publication page

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ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene

Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I

Publication Date: 2021-04

Variant appearance in text: LMNA: 357C>T; R119R

PubMed Link: 33742126

Variant Present in the following documents:

• EMS118565-supplement-Suppl__Table_3.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: LMNA: 357C>T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LMNA: 357C>T; Arg119=

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure

Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J

Publication Date: 2019-04

Variant appearance in text: LMNA: 357C>T; Arg119Arg

PubMed Link: 30775854

Variant Present in the following documents:

• EHF2-6-436-s005.xlsx, sheet 1

View BVdb publication page

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Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Open Heart

Captur, Gabriella G; Arbustini, Eloisa E; Syrris, Petros P; Radenkovic, Dina D; O'Brien, Ben B; Mckenna, William J WJ; Moon, James C JC

Publication Date: 2018

Variant appearance in text: rs41313880

PubMed Link: 30402260

Variant Present in the following documents:

• openhrt-2018-000915supp002.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LMNA: 357C>T; Arg119=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: LMNA: 357C>T; Arg119=

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 4

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs41313880

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Acta Neuropathologica Communications

Savarese, Marco M; Di Fruscio, Giuseppina G; Mutarelli, Margherita M; Torella, Annalaura A; Magri, Francesca F; Santorelli, Filippo Maria FM; Comi, Giacomo Pietro GP; Bruno, Claudio C; Nigro, Vincenzo V

Publication Date: 2014-09-11

Variant appearance in text: LMNA: 357C>T; R119R

PubMed Link: 25214167

Variant Present in the following documents:

• Main text
• 40478_2014_Article_9100.pdf

View BVdb publication page

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The lamin protein family.

Genome Biology

Dittmer, Travis A TA; Misteli, Tom T

Publication Date: 2011

Variant appearance in text: LMNA: 357C>T; R119R

PubMed Link: 21639948

Variant Present in the following documents:

• gb-2011-12-5-222.pdf

View BVdb publication page

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