Publications:

---

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: rs376692024

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

---

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: rs376692024

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MC1R: 836A>G; N279S

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

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: N279S; rs376692024

PubMed Link: 25794181

Variant Present in the following documents:

View BVdb publication page

---

Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Pigment Cell & Melanoma Research

Guan, Xiaoxiang X; Niu, Jiangong J; Liu, Zhensheng Z; Wang, Li-E LE; Amos, Christopher I CI; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Grimm, Elizabeth A EA; Wei, Qingyi Q

Publication Date: 2013-05

Variant appearance in text: MC1R: 836A>G; Asn279Ser

PubMed Link: 23360207

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic variations associated with red hair color and fear of dental pain, anxiety regarding dental care and avoidance of dental care.

Journal Of The American Dental Association (1939)

Binkley, Catherine J CJ; Beacham, Abbie A; Neace, William W; Gregg, Ronald G RG; Liem, Edwin B EB; Sessler, Daniel I DI

Publication Date: 2009-07

Variant appearance in text: MC1R: N279S

PubMed Link: 19571053

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

American Journal Of Human Genetics

Bastiaens, M T MT; ter Huurne, J A JA; Kielich, C C; Gruis, N A NA; Westendorp, R G RG; Vermeer, B J BJ; Bavinck, J N JN; ,

Publication Date: 2001-04

Variant appearance in text: MC1R: Asn279Ser

PubMed Link: 11254446

Variant Present in the following documents:

• Main text

View BVdb publication page

---