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: rs3212366

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

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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: rs3212366

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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The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Cancers

Hubert, Jean-Noël JN; Suybeng, Voreak V; Vallée, Maxime M; Delhomme, Tiffany M TM; Maubec, Eve E; Boland, Anne A; Bacq, Delphine D; Deleuze, Jean-François JF; Jouenne, Fanélie F; Brennan, Paul P; McKay, James D JD; Avril, Marie-Françoise MF; Bressac-de Paillerets, Brigitte B; Chanudet, Estelle E

Publication Date: 2021-05-07

Variant appearance in text: MC1R: F196V

PubMed Link: 34067022

Variant Present in the following documents:

• Main text
• cancers-13-02243.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs3212366

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

Scientific Reports

Yuan, Lamei L; Song, Zhi Z; Deng, Xiong X; Zheng, Wen W; Guo, Yi Y; Yang, Zhijian Z; Deng, Hao H

Publication Date: 2016-09-22

Variant appearance in text: rs3212366

PubMed Link: 27653456

Variant Present in the following documents:

• Main text
• srep33850.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3212366

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region.

Bmc Genetics

Norton, Heather L HL; Werren, Elizabeth E; Friedlaender, Jonathan J

Publication Date: 2015-10-19

Variant appearance in text: rs3212366

PubMed Link: 26482799

Variant Present in the following documents:

• Main text
• 12863_2015_Article_277.pdf

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Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Barón, Anna E AE; Asdigian, Nancy L NL; Gonzalez, Victoria V; Aalborg, Jenny J; Terzian, Tamara T; Stiegmann, Regan A RA; Torchia, Enrique C EC; Berwick, Marianne M; Dellavalle, Robert P RP; Morelli, Joseph G JG; Mokrohisky, Stefan T ST; Crane, Lori A LA; Box, Neil F NF

Publication Date: 2014-12

Variant appearance in text: MC1R: F196V

PubMed Link: 25410285

Variant Present in the following documents:

• Main text

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Predicting phenotype from genotype: normal pigmentation.

Journal Of Forensic Sciences

Valenzuela, Robert K RK; Henderson, Miquia S MS; Walsh, Monica H MH; Garrison, Nanibaa' A NA; Kelch, Jessica T JT; Cohen-Barak, Orit O; Erickson, Drew T DT; John Meaney, F F; Bruce Walsh, J J; Cheng, Keith C KC; Ito, Shosuke S; Wakamatsu, Kazumasa K; Frudakis, Tony T; Thomas, Matthew M; Brilliant, Murray H MH

Publication Date: 2010-03-01

Variant appearance in text: rs3212366

PubMed Link: 20158590

Variant Present in the following documents:

• Main text

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A genomewide association study of skin pigmentation in a South Asian population.

American Journal Of Human Genetics

Stokowski, Renee P RP; Pant, P V Krishna PV; Dadd, Tony T; Fereday, Amelia A; Hinds, David A DA; Jarman, Carl C; Filsell, Wendy W; Ginger, Rebecca S RS; Green, Martin R MR; van der Ouderaa, Frans J FJ; Cox, David R DR

Publication Date: 2007-12

Variant appearance in text: rs3212366

PubMed Link: 17999355

Variant Present in the following documents:

• Main text

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Lower rate of genomic variation identified in the trans-membrane domain of monoamine sub-class of Human G-Protein Coupled Receptors: the Human GPCR-DB Database.

Bmc Genomics

Wahlestedt, Claes C; Brookes, Anthony J AJ; Mottagui-Tabar, Salim S

Publication Date: 2004-12-04

Variant appearance in text: rs3212366

PubMed Link: 15579207

Variant Present in the following documents:

View BVdb publication page

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