Publications:

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Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.

Frontiers In Molecular Neuroscience

Luo, Sheng S; Liu, Zhi-Gang ZG; Wang, Juan J; Luo, Jun-Xia JX; Ye, Xing-Guang XG; Li, Xin X; Zhai, Qiong-Xiang QX; Liu, Xiao-Rong XR; Wang, Jie J; Gao, Liang-Di LD; Liu, Fu-Li FL; Ye, Zi-Long ZL; Li, Huan H; Gao, Zai-Fen ZF; Guo, Qing-Hui QH; Li, Bing-Mei BM; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2022

Variant appearance in text: LAMA5: 7394G>A; Arg2465Gln

PubMed Link: 35663266

Variant Present in the following documents:

• Main text
• fnmol-15-825390.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: LAMA5: R2465Q; rs200632605

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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A Phase Ib Study of the Combination of Personalized Autologous Dendritic Cell Vaccine, Aspirin, and Standard of Care Adjuvant Chemotherapy Followed by Nivolumab for Resected Pancreatic Adenocarcinoma-A Proof of Antigen Discovery Feasibility in Three Patients.

Frontiers In Immunology

Bassani-Sternberg, Michal M; Digklia, Antonia A; Huber, Florian F; Wagner, Dorothea D; Sempoux, Christine C; Stevenson, Brian J BJ; Thierry, Anne-Christine AC; Michaux, Justine J; Pak, HuiSong H; Racle, Julien J; Boudousquie, Caroline C; Balint, Klara K; Coukos, George G; Gfeller, David D; Martin Lluesma, Silvia S; Harari, Alexandre A; Demartines, Nicolas N; Kandalaft, Lana E LE

Publication Date: 2019

Variant appearance in text: LAMA5: Arg2465Gln

PubMed Link: 31440238

Variant Present in the following documents:

• Main text
• fimmu-10-01832.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: LAMA5: R2465Q

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 51

View BVdb publication page

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A family with hypothyroidism caused by fatty acid synthase and apolipoprotein B receptor mutations.

Molecular Medicine Reports

Sun, Jianhua J; Sun, Lizhi L; Chen, Weijie W; Yin, Xiao X; Lu, Yong Y; Jiang, Qiang Q

Publication Date: 2018-12

Variant appearance in text: rs200632605

PubMed Link: 30272292

Variant Present in the following documents:

• Main text
• mmr-18-06-4904.pdf

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: LAMA5: 7394G>A; Arg2465Gln; rs200632605

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page

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Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications

Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z

Publication Date: 2014-05-08

Variant appearance in text: LAMA5: R2465Q

PubMed Link: 24807215

Variant Present in the following documents:

• ncomms4830-s10.xls, sheet 1

View BVdb publication page

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