Publications:

Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1.

Cancers

Woycinck Kowalski, Thayne T; Brussa Reis, Larissa L; Finger Andreis, Tiago T; Ashton-Prolla, Patricia P; Rosset, Clévia C

Publication Date: 2020-08-26

Variant appearance in text: rs7161

PubMed Link: 32858845

Variant Present in the following documents:

• Main text
• cancers-12-02416.pdf

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

American Journal Of Human Genetics

Koczkowska, Magdalena M; Chen, Yunjia Y; Callens, Tom T; Gomes, Alicia A; Sharp, Angela A; Johnson, Sherrell S; Hsiao, Meng-Chang MC; Chen, Zhenbin Z; Balasubramanian, Meena M; Barnett, Christopher P CP; Becker, Troy A TA; Ben-Shachar, Shay S; Bertola, Debora R DR; Blakeley, Jaishri O JO; Burkitt-Wright, Emma M M EMM; Callaway, Alison A; Crenshaw, Melissa M; Cunha, Karin S KS; Cunningham, Mitch M; D'Agostino, Maria D MD; Dahan, Karin K; De Luca, Alessandro A; Destrée, Anne A; Dhamija, Radhika R; Eoli, Marica M; Evans, D Gareth R DGR; Galvin-Parton, Patricia P; George-Abraham, Jaya K JK; Gripp, Karen W KW; Guevara-Campos, Jose J; Hanchard, Neil A NA; Hernández-Chico, Concepcion C; Immken, LaDonna L; Janssens, Sandra S; Jones, Kristi J KJ; Keena, Beth A BA; Kochhar, Aaina A; Liebelt, Jan J; Martir-Negron, Arelis A; Mahoney, Maurice J MJ; Maystadt, Isabelle I; McDougall, Carey C; McEntagart, Meriel M; Mendelsohn, Nancy N; Miller, David T DT; Mortier, Geert G; Morton, Jenny J; Pappas, John J; Plotkin, Scott R SR; Pond, Dinel D; Rosenbaum, Kenneth K; Rubin, Karol K; Russell, Laura L; Rutledge, Lane S LS; Saletti, Veronica V; Schonberg, Rhonda R; Schreiber, Allison A; Seidel, Meredith M; Siqveland, Elizabeth E; Stockton, David W DW; Trevisson, Eva E; Ullrich, Nicole J NJ; Upadhyaya, Meena M; van Minkelen, Rick R; Verhelst, Helene H; Wallace, Margaret R MR; Yap, Yoon-Sim YS; Zackai, Elaine E; Zonana, Jonathan J; Zurcher, Vickie V; Claes, Kathleen K; Martin, Yolanda Y; Korf, Bruce R BR; Legius, Eric E; Messiaen, Ludwine M LM

Publication Date: 2018-01-04

Variant appearance in text: rs7161

PubMed Link: 29290338

Variant Present in the following documents:

• Main text
• main.pdf
• mmc3.pdf

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs7161

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.

Plos Genetics

Pemov, Alexander A; Sung, Heejong H; Hyland, Paula L PL; Sloan, Jennifer L JL; Ruppert, Sarah L SL; Baldwin, Andrea M AM; Boland, Joseph F JF; Bass, Sara E SE; Lee, Hyo Jung HJ; Jones, Kristine M KM; Zhang, Xijun X; , ; Mullikin, James C JC; Widemann, Brigitte C BC; Wilson, Alexander F AF; Stewart, Douglas R DR

Publication Date: 2014-10

Variant appearance in text: rs7161

PubMed Link: 25329635

Variant Present in the following documents:

• Main text
• pgen.1004575.pdf

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Capitalizing on admixture in genome-wide association studies: a two-stage testing procedure and application to height in African-Americans.

Frontiers In Genetics

Kang, Guolian G; Gao, Guimin G; Shete, Sanjay S; Redden, David T DT; Chang, Bao-Li BL; Rebbeck, Timothy R TR; Barnholtz-Sloan, Jill S JS; Pajewski, Nicholas M NM; Allison, David B DB

Publication Date: 2011

Variant appearance in text: rs7161

PubMed Link: 21754915

Variant Present in the following documents:

• Main text

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