Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs619865

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs619865

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs619865

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.

Molecular Biology And Evolution

Hejase, Hussein A HA; Mo, Ziyi Z; Campagna, Leonardo L; Siepel, Adam A

Publication Date: 2022-01-07

Variant appearance in text: rs619865

PubMed Link: 34888675

Variant Present in the following documents:

• Main text
• msab332.pdf

View BVdb publication page

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A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.

Molecular Biology And Evolution

Hejase, Hussein A HA; Mo, Ziyi Z; Campagna, Leonardo L; Siepel, Adam A

Publication Date: 2021-11-22

Variant appearance in text: rs619865

PubMed Link: 34888675

Variant Present in the following documents:

• Main text
• msab332.pdf

View BVdb publication page

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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: EIF6: 546+48T>C; rs619865

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs619865

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.

Pigment Cell & Melanoma Research

Bonilla, Carolina C; Bertoni, Bernardo B; Min, Josine L JL; Hemani, Gibran G; , ; Elliott, Hannah R HR

Publication Date: 2021-09

Variant appearance in text: rs619865

PubMed Link: 33248005

Variant Present in the following documents:

• Main text
• PCMR-34-892.pdf

View BVdb publication page

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An approximate full-likelihood method for inferring selection and allele frequency trajectories from DNA sequence data.

Plos Genetics

Stern, Aaron J AJ; Wilton, Peter R PR; Nielsen, Rasmus R

Publication Date: 2019-09

Variant appearance in text: rs619865

PubMed Link: 31518343

Variant Present in the following documents:

• Main text
• pgen.1008384.pdf

View BVdb publication page

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A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature Communications

Adhikari, Kaustubh K; Mendoza-Revilla, Javier J; Sohail, Anood A; Fuentes-Guajardo, Macarena M; Lampert, Jodie J; Chacón-Duque, Juan Camilo JC; Hurtado, Malena M; Villegas, Valeria V; Granja, Vanessa V; Acuña-Alonzo, Victor V; Jaramillo, Claudia C; Arias, William W; Lozano, Rodrigo Barquera RB; Everardo, Paola P; Gómez-Valdés, Jorge J; Villamil-Ramírez, Hugo H; Silva de Cerqueira, Caio C CC; Hunemeier, Tábita T; Ramallo, Virginia V; Schuler-Faccini, Lavinia L; Salzano, Francisco M FM; Gonzalez-José, Rolando R; Bortolini, Maria-Cátira MC; Canizales-Quinteros, Samuel S; Gallo, Carla C; Poletti, Giovanni G; Bedoya, Gabriel G; Rothhammer, Francisco F; Tobin, Desmond J DJ; Fumagalli, Matteo M; Balding, David D; Ruiz-Linares, Andrés A

Publication Date: 2019-01-21

Variant appearance in text: rs619865

PubMed Link: 30664655

Variant Present in the following documents:

• 41467_2018_8147_MOESM1_ESM.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: EIF6: 546+48T>C; rs619865

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.

Scientific Reports

Endo, Chihiro C; Johnson, Todd A TA; Morino, Ryoko R; Nakazono, Kazuyuki K; Kamitsuji, Shigeo S; Akita, Masanori M; Kawajiri, Maiko M; Yamasaki, Tatsuya T; Kami, Azusa A; Hoshi, Yuria Y; Tada, Asami A; Ishikawa, Kenichi K; Hine, Maaya M; Kobayashi, Miki M; Kurume, Nami N; Tsunemi, Yuichiro Y; Kamatani, Naoyuki N; Kawashima, Makoto M

Publication Date: 2018-06-12

Variant appearance in text: rs619865

PubMed Link: 29895819

Variant Present in the following documents:

• Main text
• 41598_2018_Article_27145.pdf

View BVdb publication page

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Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics

Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD

Publication Date: 2018-05

Variant appearance in text: rs619865

PubMed Link: 29662168

Variant Present in the following documents:

• NIHMS76542-supplement-Supplementary_notes_and_tables.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs619865

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children.

Bmc Public Health

Bonilla, Carolina C; Ness, Andrew R AR; Wills, Andrew K AK; Lawlor, Debbie A DA; Lewis, Sarah J SJ; Davey Smith, George G

Publication Date: 2014-06-12

Variant appearance in text: rs619865

PubMed Link: 24924479

Variant Present in the following documents:

• Main text
• 1471-2458-14-597.pdf

View BVdb publication page

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Using genetic proxies for lifecourse sun exposure to assess the causal relationship of sun exposure with circulating vitamin d and prostate cancer risk.

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

Bonilla, Carolina C; Gilbert, Rebecca R; Kemp, John P JP; Timpson, Nicholas J NJ; Evans, David M DM; Donovan, Jenny L JL; Hamdy, Freddie C FC; Neal, David E DE; Fraser, William D WD; Davey, Smith George SG; Lewis, Sarah J SJ; Lathrop, Mark M; Martin, Richard M RM

Publication Date: 2013-04

Variant appearance in text: rs619865

PubMed Link: 23441100

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in the matrix metalloproteinase genes and diabetic nephropathy in type 1 diabetes.

Molecular Genetics And Metabolism

Kure, Masahiko M; Pezzolesi, Marcus G MG; Poznik, G David GD; Katavetin, Pisut P; Skupien, Jan J; Dunn, Jonathon S JS; Mychaleckyj, Josyf C JC; Warram, James H JH; Krolewski, Andrzej S AS

Publication Date: 2011-05

Variant appearance in text: rs619865

PubMed Link: 21277817

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic differences between five European populations.

Human Heredity

Moskvina, Valentina V; Smith, Michael M; Ivanov, Dobril D; Blackwood, Douglas D; StClair, David D; Hultman, Christina C; Toncheva, Draga D; Gill, Michael M; Corvin, Aiden A; O'Dushlaine, Colm C; Morris, Derek W DW; Wray, Naomi R NR; Sullivan, Patrick P; Pato, Carlos C; Pato, Michele T MT; Sklar, Pamela P; Purcell, Shaun S; Holmans, Peter P; O'Donovan, Michael C MC; Owen, Michael J MJ; Kirov, George G; ,

Publication Date: 2010

Variant appearance in text: rs619865

PubMed Link: 20616560

Variant Present in the following documents:

• Main text

View BVdb publication page

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Web-based, participant-driven studies yield novel genetic associations for common traits.

Plos Genetics

Eriksson, Nicholas N; Macpherson, J Michael JM; Tung, Joyce Y JY; Hon, Lawrence S LS; Naughton, Brian B; Saxonov, Serge S; Avey, Linda L; Wojcicki, Anne A; Pe'er, Itsik I; Mountain, Joanna J

Publication Date: 2010-06-24

Variant appearance in text: rs619865

PubMed Link: 20585627

Variant Present in the following documents:

• Main text
• pgen.1000993.s007.pdf
• pgen.1000993.pdf

View BVdb publication page

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