Publications:

---

Novel therapeutics in nystagmus: what has the genetics taught us so far?

Therapeutic Advances In Rare Disease

Self, Jay E JE; Lee, Helena H

Publication Date: 2021

Variant appearance in text: OCA1: R402Q

PubMed Link: 37181109

Variant Present in the following documents:

• Main text
• 10.1177_2633004021998714.pdf

View BVdb publication page

---

Applying Unique Molecular Indices with an Extensive All-in-One Forensic SNP Panel for Improved Genotype Accuracy and Sensitivity.

Genes

Staadig, Adam A; Hedman, Johannes J; Tillmar, Andreas A

Publication Date: 2023-03-29

Variant appearance in text: rs1126809

PubMed Link: 37107576

Variant Present in the following documents:

• Main text
• genes-14-00818.pdf

View BVdb publication page

---

Human profiling from STR and SNP analysis of tropical bed bug, Cimex hemipterus, for forensic science.

Scientific Reports

Lim, Li L; Ab Majid, Abdul Hafiz AH

Publication Date: 2023-01-27

Variant appearance in text: rs1126809

PubMed Link: 36707655

Variant Present in the following documents:

• Main text
• 41598_2023_Article_28774.pdf

View BVdb publication page

---

Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.

Genes

Farré, Xavier X; Blay, Natalia N; Cortés, Beatriz B; Carreras, Anna A; Iraola-Guzmán, Susana S; de Cid, Rafael R

Publication Date: 2023-01-05

Variant appearance in text: rs1126809

PubMed Link: 36672889

Variant Present in the following documents:

• Main text
• genes-14-00149.pdf

View BVdb publication page

---

Genomics and Epigenomics in the Molecular Biology of Melanoma-A Prerequisite for Biomarkers Studies.

International Journal Of Molecular Sciences

Zob, Daniela Luminita DL; Augustin, Iolanda I; Caba, Lavinia L; Panzaru, Monica-Cristina MC; Popa, Setalia S; Popa, Alina Delia AD; Florea, Laura L; Gorduza, Eusebiu Vlad EV

Publication Date: 2022-12-31

Variant appearance in text: rs1126809

PubMed Link: 36614156

Variant Present in the following documents:

• Main text
• ijms-24-00716.pdf

View BVdb publication page

---

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports

Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S

Publication Date: 2022-12-02

Variant appearance in text: TYR: 1205G>A; Arg402Gln

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs1126809

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

---

A comprehensive meta-analysis and prioritization study to identify vitiligo associated coding and non-coding SNV candidates using web-based bioinformatics tools.

Scientific Reports

Dutta, Tithi T; Mitra, Sayantan S; Saha, Arpan A; Ganguly, Kausik K; Pyne, Tushar T; Sengupta, Mainak M

Publication Date: 2022-08-25

Variant appearance in text: rs1126809

PubMed Link: 36008553

Variant Present in the following documents:

• 41598_2022_18766_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

---

Foveal Curvature and Its Associations in UK Biobank Participants.

Investigative Ophthalmology & Visual Science

Olvera-Barrios, Abraham A; Kihara, Yuka Y; Wu, Yue Y; N Warwick, Alasdair A; Müller, Philipp L PL; Williams, Katie M KM; Rudnicka, Alicja R AR; Owen, Christopher G CG; Lee, Aaron Y AY; Egan, Catherine C; Tufail, Adnan A; ,

Publication Date: 2022-07-08

Variant appearance in text: TYR: R402Q

PubMed Link: 35900728

Variant Present in the following documents:

• iovs-63-8-26.pdf

View BVdb publication page

---

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Nature Communications

Michaud, Vincent V; Lasseaux, Eulalie E; Green, David J DJ; Gerrard, Dave T DT; Plaisant, Claudio C; , ; Fitzgerald, Tomas T; Birney, Ewan E; Arveiler, Benoît B; Black, Graeme C GC; Sergouniotis, Panagiotis I PI

Publication Date: 2022-07-08

Variant appearance in text: TYR: 1205G>A; rs1126809

PubMed Link: 35803923

Variant Present in the following documents:

• Main text
• 41467_2022_Article_31392.pdf
• 41467_2022_31392_MOESM1_ESM.pdf
• 41467_2022_31392_MOESM2_ESM.pdf
• 41467_2022_31392_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Investigating the genetic architecture of eye colour in a Canadian cohort.

Iscience

Lona-Durazo, Frida F; Thakur, Rohit R; Pairo-Castineira, Erola E; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Jackson, Ian J IJ; Brown, Kevin M KM; Parra, Esteban J EJ

Publication Date: 2022-06-17

Variant appearance in text: rs1126809

PubMed Link: 35712076

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Is Hearing Impairment Causally Associated With Falls? Evidence From a Two-Sample Mendelian Randomization Study.

Frontiers In Neurology

Wang, Jun J; Liu, Dan D; Tian, E E; Guo, Zhao-Qi ZQ; Chen, Jing-Yu JY; Kong, Wei-Jia WJ; Zhang, Su-Lin SL

Publication Date: 2022

Variant appearance in text: rs1126809

PubMed Link: 35547384

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.

Communications Biology

Kim, Yuhree Y; Yin, Jie J; Huang, Hailiang H; Jorgenson, Eric E; Choquet, Hélène H; Asgari, Maryam M MM

Publication Date: 2022-04-21

Variant appearance in text: rs1126809

PubMed Link: 35449187

Variant Present in the following documents:

• Main text
• 42003_2022_3301_MOESM1_ESM.pdf
• 42003_2022_Article_3301.pdf

View BVdb publication page

---

Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.

Human Molecular Genetics

Castaneda-Garcia, Carolina C; Iyer, Vivek V; Nsengimana, Jérémie J; Trower, Adam A; Droop, Alastair A; Brown, Kevin M KM; Choi, Jiyeon J; Zhang, Tongwu T; Harland, Mark M; Newton-Bishop, Julia A JA; Bishop, D Timothy DT; Adams, David J DJ; Iles, Mark M MM; Robles-Espinoza, Carla Daniela CD

Publication Date: 2022-08-25

Variant appearance in text: TYR: R402Q; rs1126809

PubMed Link: 35357426

Variant Present in the following documents:

• Main text
• supplementary_table_1_ddac074.xlsx, sheet 1
• ddac074.pdf

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: TYR: R402Q; rs1126809

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).

Npj Genomic Medicine

Lin, Siying S; Sanchez-Bretaño, Aida A; Leslie, Joseph S JS; Williams, Katie B KB; Lee, Helena H; Thomas, N Simon NS; Callaway, Jonathan J; Deline, James J; Ratnayaka, J Arjuna JA; Baralle, Diana D; Schmitt, Melanie A MA; Norman, Chelsea S CS; Hammond, Sheri S; Harlalka, Gaurav V GV; Ennis, Sarah S; Cross, Harold E HE; Wenger, Olivia O; Crosby, Andrew H AH; Baple, Emma L EL; Self, Jay E JE

Publication Date: 2022-01-13

Variant appearance in text: TYR: Arg402Gln

PubMed Link: 35027574

Variant Present in the following documents:

• Main text
• 41525_2021_275_MOESM1_ESM.pdf
• 41525_2021_Article_275.pdf

View BVdb publication page

---

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.

Genes

Cristofoli, Francesca F; Sorrentino, Elisa E; Guerri, Giulia G; Miotto, Roberta R; Romanelli, Roberta R; Zulian, Alessandra A; Cecchin, Stefano S; Paolacci, Stefano S; Miertus, Jan J; Bertelli, Matteo M; Maltese, Paolo Enrico PE; Chiurazzi, Pietro P; Stuppia, Liborio L; Castori, Marco M; Marceddu, Giuseppe G

Publication Date: 2021-11-25

Variant appearance in text: TYR: 1205G>A; Arg402Gln; rs1126809

PubMed Link: 34946832

Variant Present in the following documents:

• Main text
• genes-12-01885.pdf

View BVdb publication page

---

Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: TYR: R402Q

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

---

New Prognostic Biomarkers and Drug Targets for Skin Cutaneous Melanoma via Comprehensive Bioinformatic Analysis and Validation.

Frontiers In Oncology

Zhou, Sitong S; Han, Yuanyuan Y; Li, Jiehua J; Pi, Xiaobing X; Lyu, Jin J; Xiang, Shijian S; Zhou, Xinzhu X; Chen, Xiaodong X; Wang, Zhengguang Z; Yang, Ronghua R

Publication Date: 2021

Variant appearance in text: TYR: 1205G>A

PubMed Link: 34722301

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

---

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: TYR: R402Q; rs1126809

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

---

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: TYR: R402Q; rs1126809

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

---

Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing.

Genes

Diepenbroek, Marta M; Bayer, Birgit B; Anslinger, Katja K

Publication Date: 2021-08-30

Variant appearance in text: rs1126809

PubMed Link: 34573344

Variant Present in the following documents:

• genes-12-01362.pdf

View BVdb publication page

---

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports

Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ

Publication Date: 2021-08-09

Variant appearance in text: TYR: R402Q; rs1126809

PubMed Link: 34373545

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Computational Investigation of the pH Dependence of Stability of Melanosome Proteins: Implication for Melanosome formation and Disease.

International Journal Of Molecular Sciences

Koirala, Mahesh M; Shashikala, H B Mihiri HBM; Jeffries, Jacob J; Wu, Bohua B; Loftus, Stacie K SK; Zippin, Jonathan H JH; Alexov, Emil E

Publication Date: 2021-07-31

Variant appearance in text: TYR: R402Q

PubMed Link: 34361043

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Characterization of Temperature-Dependent Kinetics of Oculocutaneous Albinism-Causing Mutants of Tyrosinase.

International Journal Of Molecular Sciences

Wachamo, Samuel A SA; Patel, Milan H MH; Varghese, Paul K PK; Dolinska, Monika B MB; Sergeev, Yuri V YV

Publication Date: 2021-07-21

Variant appearance in text: OCA1: R402Q

PubMed Link: 34360537

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics.

Cancers

Kilgour, James M JM; Jia, Justin L JL; Sarin, Kavita Y KY

Publication Date: 2021-07-31

Variant appearance in text: rs1126809

PubMed Link: 34359772

Variant Present in the following documents:

• Main text
• cancers-13-03870.pdf

View BVdb publication page

---

Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population.

Hereditas

Wang, Yuxin Y

Publication Date: 2021-07-08

Variant appearance in text: TYR: R402Q; rs1126809

PubMed Link: 34238381

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.

Frontiers In Genetics

Font-Porterias, Neus N; Giménez, Aaron A; Carballo-Mesa, Annabel A; Calafell, Francesc F; Comas, David D

Publication Date: 2021

Variant appearance in text: rs1126809

PubMed Link: 34220960

Variant Present in the following documents:

• Main text
• fgene-12-683880.pdf

View BVdb publication page

---

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.

Communications Biology

Ivarsdottir, Erna V EV; Holm, Hilma H; Benonisdottir, Stefania S; Olafsdottir, Thorhildur T; Sveinbjornsson, Gardar G; Thorleifsson, Gudmar G; Eggertsson, Hannes P HP; Halldorsson, Gisli H GH; Hjorleifsson, Kristjan E KE; Melsted, Pall P; Gylfason, Arnaldur A; Arnadottir, Gudny A GA; Oddsson, Asmundur A; Jensson, Brynjar O BO; Jonasdottir, Aslaug A; Jonasdottir, Adalbjorg A; Juliusdottir, Thorhildur T; Stefansdottir, Lilja L; Tragante, Vinicius V; Halldorsson, Bjarni V BV; Petersen, Hannes H; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Hinriksdottir, Ingibjorg I; Jonsdottir, Ingileif I; Gudbjartsson, Daniel F DF; Stefansson, Kari K

Publication Date: 2021-06-09

Variant appearance in text: rs1126809

PubMed Link: 34108613

Variant Present in the following documents:

• Main text
• 42003_2021_2224_MOESM4_ESM.xlsx, sheet 1
• 42003_2021_2224_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

---

Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade.

Nature Communications

Khan, Zia Z; Hammer, Christian C; Carroll, Jonathan J; Di Nucci, Flavia F; Acosta, Sergio Ley SL; Maiya, Vidya V; Bhangale, Tushar T; Hunkapiller, Julie J; Mellman, Ira I; Albert, Matthew L ML; McCarthy, Mark I MI; Chandler, G Scott GS

Publication Date: 2021-06-07

Variant appearance in text: rs1126809

PubMed Link: 34099659

Variant Present in the following documents:

• 41467_2021_23661_MOESM1_ESM.pdf

View BVdb publication page

---

Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.

American Journal Of Human Genetics

Alipanahi, Babak B; Hormozdiari, Farhad F; Behsaz, Babak B; Cosentino, Justin J; McCaw, Zachary R ZR; Schorsch, Emanuel E; Sculley, D D; Dorfman, Elizabeth H EH; Foster, Paul J PJ; Peng, Lily H LH; Phene, Sonia S; Hammel, Naama N; Carroll, Andrew A; Khawaja, Anthony P AP; McLean, Cory Y CY

Publication Date: 2021-07-01

Variant appearance in text: rs1126809

PubMed Link: 34077760

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set.

Genes

Meyer, Olivia Strunge OS; Salvo, Nina Mjølsnes NM; Kjærbye, Anne A; Kjersem, Marianne M; Andersen, Mikkel Meyer MM; Sørensen, Erik E; Ullum, Henrik H; Janssen, Kirstin K; Morling, Niels N; Børsting, Claus C; Olsen, Gunn-Hege GH; Andersen, Jeppe Dyrberg JD

Publication Date: 2021-05-27

Variant appearance in text: rs1126809

PubMed Link: 34071952

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: TYR: 1205G>A; R402Q; rs1126809

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: TYR: 1205G>A; Arg402Gln; rs1126809

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

---

Identifying Susceptibility Loci for Cutaneous Squamous Cell Carcinoma Using a Fast Sequence Kernel Association Test.

Frontiers In Genetics

Huang, Manyan M; Lyu, Chen C; Li, Xin X; Qureshi, Abrar A AA; Han, Jiali J; Li, Ming M

Publication Date: 2021

Variant appearance in text: rs1126809

PubMed Link: 34040636

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Aberrant visual population receptive fields in human albinism.

Journal Of Vision

Duwell, Ethan J EJ; Woertz, Erica N EN; Mathis, Jedidiah J; Carroll, Joseph J; DeYoe, Edgar A EA

Publication Date: 2021-05-03

Variant appearance in text: TYR: 1205G>A

PubMed Link: 34007988

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex.

Frontiers In Pharmacology

Lavinda, Olga O; Manga, Prashiela P; Orlow, Seth J SJ; Cardozo, Timothy T

Publication Date: 2021

Variant appearance in text: TYR: R402Q

PubMed Link: 33995009

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Genes

Chan, Hwei Wuen HW; Schiff, Elena R ER; Tailor, Vijay K VK; Malka, Samantha S; Neveu, Magella M MM; Theodorou, Maria M; Moosajee, Mariya M

Publication Date: 2021-03-30

Variant appearance in text: TYR: 1205G>A

PubMed Link: 33808351

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.

International Journal Of Molecular Sciences

de Bruijn, Suzanne E SE; Fadaie, Zeinab Z; Cremers, Frans P M FPM; Kremer, Hannie H; Roosing, Susanne S

Publication Date: 2021-03-14

Variant appearance in text: TYR: Arg402Gln

PubMed Link: 33799353

Variant Present in the following documents:

• Main text
• ijms-22-02943.pdf

View BVdb publication page

---

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: TYR: 1205G>A; R402Q; rs1126809

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

---

Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.

Science Advances

Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG

Publication Date: 2021-03

Variant appearance in text: rs1126809

PubMed Link: 33692100

Variant Present in the following documents:

• Main text
• abd1239.pdf

View BVdb publication page

---

Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.

Science Advances

Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG

Publication Date: 2021-03

Variant appearance in text: rs1126809

PubMed Link: 33692100

Variant Present in the following documents:

• Main text
• abd1239.pdf

View BVdb publication page

---

Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.

Genes

Ragazzo, Michele M; Puleri, Giulio G; Errichiello, Valeria V; Manzo, Laura L; Luzzi, Laura L; Potenza, Saverio S; Strafella, Claudia C; Peconi, Cristina C; Nicastro, Fabio F; Caputo, Valerio V; Giardina, Emiliano E

Publication Date: 2021-02-03

Variant appearance in text: rs1126809

PubMed Link: 33546406

Variant Present in the following documents:

• Main text
• genes-12-00221.pdf

View BVdb publication page

---

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

Biomed Research International

Yu, Rong R; Liu, Lv L; Li, Ya-Li YL; Fan, Liang-Liang LL

Publication Date: 2021

Variant appearance in text: TYR: R402Q

PubMed Link: 33506017

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The evolution of skin pigmentation-associated variation in West Eurasia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ju, Dan D; Mathieson, Iain I

Publication Date: 2021-01-05

Variant appearance in text: rs1126809

PubMed Link: 33443182

Variant Present in the following documents:

• Main text
• pnas.202009227.pdf

View BVdb publication page

---

Case Series: Gene Expression Analysis in Canine Vogt-Koyanagi-Harada/Uveodermatologic Syndrome and Vitiligo Reveals Conserved Immunopathogenesis Pathways Between Dog and Human Autoimmune Pigmentary Disorders.

Frontiers In Immunology

Egbeto, Ista A IA; Garelli, Colton J CJ; Piedra-Mora, Cesar C; Wong, Neil B NB; David, Clement N CN; Robinson, Nicholas A NA; Richmond, Jillian M JM

Publication Date: 2020

Variant appearance in text: TYR: R402Q; rs1126809

PubMed Link: 33384688

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.

Communications Biology

Jorgenson, Eric E; Choquet, Hélène H; Yin, Jie J; Hoffmann, Thomas J TJ; Banda, Yambazi Y; Kvale, Mark N MN; Risch, Neil N; Schaefer, Catherine C; Asgari, Maryam M MM

Publication Date: 2020-12-14

Variant appearance in text: rs1126809

PubMed Link: 33318654

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1461.pdf

View BVdb publication page

---

Mechanisms of melanocyte death in vitiligo.

Medicinal Research Reviews

Chen, Jianru J; Li, Shuli S; Li, Chunying C

Publication Date: 2021-03

Variant appearance in text: TYR: R402Q; rs1126809

PubMed Link: 33200838

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil.

Bmc Cancer

Reis, Larissa B LB; Bakos, Renato M RM; Vianna, Fernanda S L FSL; Macedo, Gabriel S GS; Jacovas, Vanessa C VC; Ribeiro-Dos-Santos, André M AM; Santos, Sidney S; Bakos, Lúcio L; Ashton-Prolla, Patricia P

Publication Date: 2020-11-09

Variant appearance in text: TYR: Arg402Gln; rs1126809

PubMed Link: 33167923

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7485.pdf

View BVdb publication page

---

Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: TYR: 1205G>A; Arg402Gln; rs1126809

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty.

Plos Genetics

Kalra, Gurmannat G; Milon, Beatrice B; Casella, Alex M AM; Herb, Brian R BR; Humphries, Elizabeth E; Song, Yang Y; Rose, Kevin P KP; Hertzano, Ronna R; Ament, Seth A SA

Publication Date: 2020-09

Variant appearance in text: TYR: Arg402Gln; rs1126809

PubMed Link: 32986727

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Plos One

Rayner, Jenna E JE; Duffy, David L DL; Smit, Darren J DJ; Jagirdar, Kasturee K; Lee, Katie J KJ; De'Ambrosis, Brian B; Smithers, B Mark BM; McMeniman, Erin K EK; McInerney-Leo, Aideen M AM; Schaider, Helmut H; Stark, Mitchell S MS; Soyer, H Peter HP; Sturm, Richard A RA

Publication Date: 2020

Variant appearance in text: TYR: R402Q

PubMed Link: 32966289

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.

Plos One

Meyer, Olivia S OS; Lunn, Maja M B MMB; Garcia, Sara L SL; Kjærbye, Anne B AB; Morling, Niels N; Børsting, Claus C; Andersen, Jeppe D JD

Publication Date: 2020

Variant appearance in text: rs1126809

PubMed Link: 32915910

Variant Present in the following documents:

• pone.0239131.pdf

View BVdb publication page

---