Publications:

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: LMNA: 895A>G; I299V; rs150924946

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

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Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.

Frontiers In Cell And Developmental Biology

Dharmaraj, Tejas T; Guan, Youchen Y; Liu, Julie J; Badens, Catherine C; Gaborit, Benedicte B; Wilson, Katherine L KL

Publication Date: 2019

Variant appearance in text: LMNA: I299V

PubMed Link: 31024910

Variant Present in the following documents:

• Main text
• fcell-07-00048.pdf

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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: rs150924946

PubMed Link: 30402260

Variant Present in the following documents:

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

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LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Frontiers In Genetics

Florwick, Alyssa A; Dharmaraj, Tejas T; Jurgens, Julie J; Valle, David D; Wilson, Katherine L KL

Publication Date: 2017

Variant appearance in text: LMNA: I299V

PubMed Link: 28663758

Variant Present in the following documents:

• Main text
• fgene-08-00079.pdf

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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: 895A>G; Ile299Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.

Nucleus (Austin, Tex.)

Tu, Yiping Y; Sánchez-Iglesias, Sofía S; Araújo-Vilar, David D; Fong, Loren G LG; Young, Stephen G SG

Publication Date: 2016-09-02

Variant appearance in text: LMNA: I299V

PubMed Link: 27841971

Variant Present in the following documents:

• Main text

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: 895A>G; Ile299Val

PubMed Link: 27697855

Variant Present in the following documents:

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

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: LMNA: 895A>G; Ile299Val; rs150924946

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

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Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.

Endocrine

Araujo-Vilar, David D; Sánchez-Iglesias, Sofía S; Guillín-Amarelle, Cristina C; Castro, Ana A; Lage, Mary M; Pazos, Marcos M; Rial, José Manuel JM; Blasco, Javier J; Guillén-Navarro, Encarna E; Domingo-Jiménez, Rosario R; del Campo, María Ruiz MR; González-Méndez, Blanca B; Casanueva, Felipe F FF

Publication Date: 2015-05

Variant appearance in text: LMNA: 895A>G

PubMed Link: 25367549

Variant Present in the following documents:

• Main text

View BVdb publication page

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