Publications:

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

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

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs376679503

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

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

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs376679503

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.

Nature Communications

Esfahani, Mohammad S MS; Lee, Luke J LJ; Jeon, Young-Jun YJ; Flynn, Ryan A RA; Stehr, Henning H; Hui, Angela B AB; Ishisoko, Noriko N; Kildebeck, Eric E; Newman, Aaron M AM; Bratman, Scott V SV; Porteus, Matthew H MH; Chang, Howard Y HY; Alizadeh, Ash A AA; Diehn, Maximilian M

Publication Date: 2019-12-13

Variant appearance in text: MC1R: R34W

PubMed Link: 31836708

Variant Present in the following documents:

• 41467_2019_13392_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: MC1R: R34W

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One

Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR

Publication Date: 2015

Variant appearance in text: MC1R: R34W; rs376679503

PubMed Link: 25794181

Variant Present in the following documents:

View BVdb publication page

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A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International

Hu, Hui-Han HH; Benfodda, Mériem M; Dumaz, Nicolas N; Gazal, Steven S; Descamps, Vincent V; Bourillon, Agnès A; Basset-Seguin, Nicole N; Riffault, Angélique A; Ezzedine, Khaled K; Bagot, Martine M; Bensussan, Armand A; Saiag, Philippe P; Grandchamp, Bernard B; Soufir, Nadem N

Publication Date: 2014

Variant appearance in text: MC1R: 100C>T; R34W

PubMed Link: 24982914

Variant Present in the following documents:

• Main text
• BMRI2014-925716.pdf
• 925716.f1.pdf

View BVdb publication page

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Recessive black is allelic to the yellow plumage locus in Japanese quail and associated with a frameshift deletion in the ASIP gene.

Genetics

Hiragaki, Takahiro T; Inoue-Murayama, Miho M; Miwa, Mitsuru M; Fujiwara, Akira A; Mizutani, Makoto M; Minvielle, Francis F; Ito, Shin'ichi S

Publication Date: 2008-02

Variant appearance in text: MC1R: 100C>T

PubMed Link: 18287406

Variant Present in the following documents:

• Main text

View BVdb publication page

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