Publications:

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: MC1R: 265G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A randomized clinical trial of precision prevention materials incorporating MC1R genetic risk to improve skin cancer prevention activities among Hispanics.

Cancer Research Communications

Lacson, John Charles A JCA; Doyle, Scarlet H SH; Del Rio, Jocelyn J; Forgas, Stephanie M SM; Carvajal, Rodrigo R; Gonzalez-Calderon, Guillermo G; Feliciano, Adriana Ramírez AR; Kim, Youngchul Y; Roetzheim, Richard G RG; Sutton, Steven K SK; Vadaparampil, Susan T ST; Soto-Torres, Brenda B; Kanetsky, Peter A PA

Publication Date: 2022-01

Variant appearance in text: N/A

PubMed Link: 35845857

Variant Present in the following documents:

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: rs34540312

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: rs34540312

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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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: MC1R: 265G>A; G89R

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Germline MC1R status influences somatic mutation burden in melanoma.

Nature Communications

Robles-Espinoza, Carla Daniela CD; Roberts, Nicola D ND; Chen, Shuyang S; Leacy, Finbarr P FP; Alexandrov, Ludmil B LB; Pornputtapong, Natapol N; Halaban, Ruth R; Krauthammer, Michael M; Cui, Rutao R; Timothy Bishop, D D; Adams, David J DJ

Publication Date: 2016-07-12

Variant appearance in text: MC1R: Gly89Arg

PubMed Link: 27403562

Variant Present in the following documents:

• Main text
• ncomms12064-s1.pdf
• ncomms12064.pdf

View BVdb publication page

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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: rs34540312

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MC1R: G89R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

The British Journal Of Dermatology

Puig-Butillé, J A JA; Carrera, C C; Kumar, R R; Garcia-Casado, Z Z; Badenas, C C; Aguilera, P P; Malvehy, J J; Nagore, E E; Puig, S S

Publication Date: 2013-10

Variant appearance in text: MC1R: 265G>A; G89R

PubMed Link: 23647022

Variant Present in the following documents:

• Main text

View BVdb publication page

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