Publications:

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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Npj Genomic Medicine

Schlottmann, Patricio G PG; Luna, José D JD; Labat, Natalia N; Yadarola, María Belén MB; Bainttein, Silvina S; Esposito, Evangelina E; Ibañez, Agustina A; Barbaro, Evangelina Ivón EI; Álvarez Mendiara, Alejandro A; Picotti, Carolina P CP; Chirino Misisian, Andrea A; Andreussi, Luciana L; Gras, Julieta J; Capalbo, Luciana L; Visotto, Mauro M; Dipierri, José E JE; Alcoba, Emilio E; Fernández Gabrielli, Laura L; Ávila, Silvia S; Aucar, María Emilia ME; Martin, Daniel M DM; Ormaechea, Gerardo Juan GJ; Inga, M Eugenia ME; Francone, Aníbal A AA; Charles, Martin M; Zompa, Tamara T; Pérez, Pablo Javier PJ; Lotersztein, Vanesa V; Nuova, Pedro J PJ; Canonero, Ivana B IB; Mahroo, Omar A OA; Michaelides, Michel M; Arno, Gavin G; Daich Varela, Malena M

Publication Date: 2023-05-22

Variant appearance in text: TYR: 1217C>T; Pro406Leu

PubMed Link: 37217489

Variant Present in the following documents:

• 41525_2023_352_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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In Vitro Reconstitution of the Melanin Pathway's Catalytic Activities Using Tyrosinase Nanoparticles.

International Journal Of Molecular Sciences

Osuna, Isabella I; Dolinska, Monika B MB; Sergeev, Yuri V YV

Publication Date: 2022-12-30

Variant appearance in text: TYR: P406L

PubMed Link: 36614088

Variant Present in the following documents:

• Main text
• ijms-24-00639.pdf

View BVdb publication page

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Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency.

American Journal Of Ophthalmology Case Reports

Arnett, Justin J JJ; Li, Alexa A; Yassin, Shaden H SH; Miller, Robin R; Taylor, Lori L; Carter, Caitlin E CE; Shayan-Tabrizi, Katayoon K; Borooah, Shyamanga S

Publication Date: 2023-03

Variant appearance in text: TYR: 1217C>T; Pro406Leu

PubMed Link: 36578800

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: 1217C>T; Pro406Leu

PubMed Link: 35803923

Variant Present in the following documents:

• 41467_2022_31392_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes

Ullah, Muhammad Ikram MI

Publication Date: 2022-06-16

Variant appearance in text: TYR: 1217C>T

PubMed Link: 35741834

Variant Present in the following documents:

• genes-13-01072.pdf

View BVdb publication page

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Comparison of Cone Mosaic Metrics From Images Acquired With the SPECTRALIS High Magnification Module and Adaptive Optics Scanning Light Ophthalmoscopy.

Translational Vision Science & Technology

Wynne, Niamh N; Heitkotter, Heather H; Woertz, Erica N EN; Cooper, Robert F RF; Carroll, Joseph J

Publication Date: 2022-05-02

Variant appearance in text: TYR: 1217C>T

PubMed Link: 35583887

Variant Present in the following documents:

• Main text
• tvst-11-5-19.pdf

View BVdb publication page

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Best practices for the interpretation and reporting of clinical whole genome sequencing.

Npj Genomic Medicine

Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,

Publication Date: 2022-04-08

Variant appearance in text: TYR: 1217C>T; Pro406Leu

PubMed Link: 35395838

Variant Present in the following documents:

• 41525_2022_295_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: P406L

PubMed Link: 34360537

Variant Present in the following documents:

• Main text
• ijms-22-07771.pdf

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: TYR: P406L

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: TYR: P406L

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1217C>T

PubMed Link: 34007988

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: P406L

PubMed Link: 33995009

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: OCA1: 1217C>T

PubMed Link: 33808351

Variant Present in the following documents:

• Main text
• genes-12-00508.pdf

View BVdb publication page

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Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Jackson, Daniel D; Malka, Samantha S; Harding, Philippa P; Palma, Juliana J; Dunbar, Hannah H; Moosajee, Mariya M

Publication Date: 2020-09

Variant appearance in text: TYR: 1217C>T; Pro406Leu

PubMed Link: 32830442

Variant Present in the following documents:

• Main text
• AJMG-184-578.pdf

View BVdb publication page

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Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.

Frontiers In Genetics

Schidlowski, Laire L; Liebert, Fernando F; Iankilevich, Pérola Grupenmacher PG; Rebellato, Priscila Regina Orso PRO; Rocha, Rafaela Andrade RA; Almeida, Nadia Aparecida Pereira NAP; Jain, Aayushee A; Wu, Yiming Y; Itan, Yuval Y; Rosati, Roberto R; Prando, Carolina C

Publication Date: 2020

Variant appearance in text: TYR: 1217C>T

PubMed Link: 32411182

Variant Present in the following documents:

• Main text
• fgene-11-00397.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: TYR: 1217C>T; Pro406Leu; rs104894313

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

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

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: TYR: 1217C>T; Pro406Leu

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: TYR: 1217C>T; Pro406Leu

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical and genetic variability in children with partial albinism.

Scientific Reports

Campbell, Patrick P; Ellingford, Jamie M JM; Parry, Neil R A NRA; Fletcher, Tracy T; Ramsden, Simon C SC; Gale, Theodora T; Hall, Georgina G; Smith, Katherine K; Kasperaviciute, Dalia D; Thomas, Ellen E; Lloyd, I Chris IC; Douzgou, Sofia S; Clayton-Smith, Jill J; Biswas, Susmito S; Ashworth, Jane L JL; Black, Graeme C M GCM; Sergouniotis, Panagiotis I PI

Publication Date: 2019-11-12

Variant appearance in text: TYR: Pro406Leu

PubMed Link: 31719542

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51768.pdf
• 41598_2019_51768_MOESM1_ESM.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: TYR: 1217C>T; Pro406Leu; rs104894313

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

Scientific Reports

O'Gorman, Luke L; Norman, Chelsea S CS; Michaels, Luke L; Newall, Tutte T; Crosby, Andrew H AH; Mattocks, Christopher C; Cree, Angela J AJ; Lotery, Andrew J AJ; Baple, Emma L EL; Ratnayaka, J Arjuna JA; Baralle, Diana D; Lee, Helena H; Osborne, Daniel D; Shawkat, Fatima F; Gibson, Jane J; Ennis, Sarah S; Self, Jay E JE

Publication Date: 2019-09-13

Variant appearance in text: TYR: P406L; rs104894313

PubMed Link: 31519934

Variant Present in the following documents:

• 41598_2019_49368_MOESM1_ESM.pdf

View BVdb publication page

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Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer

Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-05

Variant appearance in text: TYR: P406L

PubMed Link: 31382929

Variant Present in the following documents:

• Main text
• 12885_2019_5984_MOESM1_ESM.pdf
• 12885_2019_Article_5984.pdf

View BVdb publication page

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CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.

Human Mutation

Kasak, Laura L; Hunter, Jesse M JM; Udani, Rupa R; Bakolitsa, Constantina C; Hu, Zhiqiang Z; Adhikari, Aashish N AN; Babbi, Giulia G; Casadio, Rita R; Gough, Julian J; Guerrero, Rafael F RF; Jiang, Yuxiang Y; Joseph, Thomas T; Katsonis, Panagiotis P; Kotte, Sujatha S; Kundu, Kunal K; Lichtarge, Olivier O; Martelli, Pier Luigi PL; Mooney, Sean D SD; Moult, John J; Pal, Lipika R LR; Poitras, Jennifer J; Radivojac, Predrag P; Rao, Aditya A; Sivadasan, Naveen N; Sunderam, Uma U; Saipradeep, V G VG; Yin, Yizhou Y; Zaucha, Jan J; Brenner, Steven E SE; Meyn, M Stephen MS

Publication Date: 2019-09

Variant appearance in text: TYR: 1217C>T; Pro406Leu

PubMed Link: 31322791

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: TYR: 1217C>T; Pro406Leu

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: TYR: 1217C>T; Pro406Leu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Journal Of Analytical & Pharmaceutical Research

Farney, S Katie SK; Dolinska, Monika B MB; Sergeev, Yuri V YV

Publication Date: 2018

Variant appearance in text: OCAIA: P406L

PubMed Link: 30868138

Variant Present in the following documents:

• Main text
• nihms-1008828.pdf

View BVdb publication page

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: rs104894313

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

View BVdb publication page

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Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Bmc Ophthalmology

Wang, Xinjing X; Zein, Wadih M WM; D'Souza, Leera L; Roberson, Chimere C; Wetherby, Keith K; He, Hong H; Villarta, Angela A; Turriff, Amy A; Johnson, Kory R KR; Fann, Yang C YC

Publication Date: 2017-08-24

Variant appearance in text: TYR: 1217C>T; rs104894313

PubMed Link: 28838317

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Scientific Reports

Norman, Chelsea S CS; O'Gorman, Luke L; Gibson, Jane J; Pengelly, Reuben J RJ; Baralle, Diana D; Ratnayaka, J Arjuna JA; Griffiths, Helen H; Rose-Zerilli, Matthew M; Ranger, Megan M; Bunyan, David D; Lee, Helena H; Page, Rhiannon R; Newall, Tutte T; Shawkat, Fatima F; Mattocks, Christopher C; Ward, Daniel D; Ennis, Sarah S; Self, Jay E JE

Publication Date: 2017-06-30

Variant appearance in text: TYR: P406L

PubMed Link: 28667292

Variant Present in the following documents:

• Main text

View BVdb publication page

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Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience

Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X

Publication Date: 2017

Variant appearance in text: TYR: 1217C>T

PubMed Link: 28451379

Variant Present in the following documents:

• Main text
• 13578_2017_Article_149.pdf

View BVdb publication page

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Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific Reports

Shahzad, Mohsin M; Yousaf, Sairah S; Waryah, Yar M YM; Gul, Hadia H; Kausar, Tasleem T; Tariq, Nabeela N; Mahmood, Umair U; Ali, Muhammad M; Khan, Muzammil A MA; Waryah, Ali M AM; Shaikh, Rehan S RS; Riazuddin, Saima S; Ahmed, Zubair M ZM; ,

Publication Date: 2017-03-07

Variant appearance in text: TYR: 1217C>T

PubMed Link: 28266639

Variant Present in the following documents:

• srep44185-s1.pdf

View BVdb publication page

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Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

Pigment Cell & Melanoma Research

Dolinska, Monika B MB; Kus, Nicole J NJ; Farney, S Katie SK; Wingfield, Paul T PT; Brooks, Brian P BP; Sergeev, Yuri V YV

Publication Date: 2017-01

Variant appearance in text: OCA1: 1217C>T

PubMed Link: 27775880

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging

Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,

Publication Date: 2016-12

Variant appearance in text: TYR: P406L

PubMed Link: 27640074

Variant Present in the following documents:

• mmc2.xlsx, sheet 5

View BVdb publication page

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Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies.

Plos One

Lai, Xuelei X; Soler-Lopez, Montserrat M; Wichers, Harry J HJ; Dijkstra, Bauke W BW

Publication Date: 2016

Variant appearance in text: OCA1: P406L

PubMed Link: 27551823

Variant Present in the following documents:

• Main text
• pone.0161697.pdf

View BVdb publication page

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The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation

Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL

Publication Date: 2016

Variant appearance in text: rs104894313

PubMed Link: 27408750

Variant Present in the following documents:

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: TYR: P406L; rs104894313

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 11

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: OCA1A: P406L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: TYR: P406L; rs104894313

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.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: TYR: P406L

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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Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

Molecular Vision

Khordadpoor-Deilamani, Faravareh F; Akbari, Mohammad Taghi MT; Karimipoor, Morteza M; Javadi, Gholamreza G

Publication Date: 2015

Variant appearance in text: TYR: 1217C>T

PubMed Link: 26167114

Variant Present in the following documents:

• Main text
• mv-v21-730.pdf

View BVdb publication page

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Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns.

Oncotarget

Cifola, Ingrid I; Lionetti, Marta M; Pinatel, Eva E; Todoerti, Katia K; Mangano, Eleonora E; Pietrelli, Alessandro A; Fabris, Sonia S; Mosca, Laura L; Simeon, Vittorio V; Petrucci, Maria Teresa MT; Morabito, Fortunato F; Offidani, Massimo M; Di Raimondo, Francesco F; Falcone, Antonietta A; Caravita, Tommaso T; Battaglia, Cristina C; De Bellis, Gianluca G; Palumbo, Antonio A; Musto, Pellegrino P; Neri, Antonino A

Publication Date: 2015-07-10

Variant appearance in text: TYR: P406L; rs104894313

PubMed Link: 26046463

Variant Present in the following documents:

• oncotarget-06-17543-s002.xls, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: TYR: P406L

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TYR: P406L; rs104894313

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P

Publication Date: 2014-09

Variant appearance in text: TYR: P406L

PubMed Link: 25333069

Variant Present in the following documents:

• mgg30002-0438-SD2.pdf

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Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

Plos One

Ghodsinejad Kalahroudi, Vadieh V; Kamalidehghan, Behnam B; Arasteh Kani, Ahoura A; Aryani, Omid O; Tondar, Mahdi M; Ahmadipour, Fatemeh F; Chung, Lip Yong LY; Houshmand, Massoud M

Publication Date: 2014

Variant appearance in text: OCA1: 1217C>T

PubMed Link: 25216246

Variant Present in the following documents:

• Main text
• pone.0106656.pdf

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Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Human Mutation

Rodriguez-Flores, Juan L JL; Fakhro, Khalid K; Hackett, Neil R NR; Salit, Jacqueline J; Fuller, Jennifer J; Agosto-Perez, Francisco F; Gharbiah, Maey M; Malek, Joel A JA; Zirie, Mahmoud M; Jayyousi, Amin A; Badii, Ramin R; Al-Nabet Al-Marri, Ajayeb A; Chouchane, Lotfi L; Stadler, Dora J DJ; Mezey, Jason G JG; Crystal, Ronald G RG

Publication Date: 2014-01

Variant appearance in text: TYR: Pro406Leu; rs104894313

PubMed Link: 24123366

Variant Present in the following documents:

• Main text

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: TYR: 1217C>T; rs104894313

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1
• NIHMS474900-supplement-8.xlsx, sheet 2

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Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Orphanet Journal Of Rare Diseases

Jaworek, Thomas J TJ; Kausar, Tasleem T; Bell, Shannon M SM; Tariq, Nabeela N; Maqsood, Muhammad Imran MI; Sohail, Asma A; Ali, Muhmmmad M; Iqbal, Furhan F; Rasool, Shafqat S; Riazuddin, Saima S; Shaikh, Rehan S RS; Ahmed, Zubair M ZM

Publication Date: 2012-06-26

Variant appearance in text: TYR: 1217C>T

PubMed Link: 22734612

Variant Present in the following documents:

• Main text
• 1750-1172-7-44.pdf

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Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Investigative Ophthalmology & Visual Science

Gargiulo, Annagiusi A; Testa, Francesco F; Rossi, Settimio S; Di Iorio, Valentina V; Fecarotta, Simona S; de Berardinis, Teresa T; Iovine, Antonello A; Magli, Adriano A; Signorini, Sabrina S; Fazzi, Elisa E; Galantuomo, Maria Silvana MS; Fossarello, Maurizio M; Montefusco, Sandro S; Ciccodicola, Alfredo A; Neri, Alberto A; Macaluso, Claudio C; Simonelli, Francesca F; Surace, Enrico Maria EM

Publication Date: 2011-03

Variant appearance in text: TYR: 1217C>T

PubMed Link: 20861488

Variant Present in the following documents:

• Main text

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Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology

Hutton, Saunie M SM; Spritz, Richard A RA

Publication Date: 2008-10

Variant appearance in text: OCA1: 1217C>T

PubMed Link: 18463683

Variant Present in the following documents:

• Main text

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