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: rs1820488

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: rs1820488

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs1820488

PubMed Link: 36075891

Variant Present in the following documents:

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

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: rs1820488

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1820488

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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: rs1820488

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

Biomed Research International

Torrado, Mario M; Maneiro, Emilia E; Trujillo-Quintero, Juan Pablo JP; Evangelista, Arturo A; Mikhailov, Alexander T AT; Monserrat, Lorenzo L

Publication Date: 2018

Variant appearance in text: rs1820488

PubMed Link: 30003093

Variant Present in the following documents:

• Main text
• BMRI2018-3536495.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1820488

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Nature Communications

Fan, Qiao Q; Verhoeven, Virginie J M VJ; Wojciechowski, Robert R; Barathi, Veluchamy A VA; Hysi, Pirro G PG; Guggenheim, Jeremy A JA; Höhn, René R; Vitart, Veronique V; Khawaja, Anthony P AP; Yamashiro, Kenji K; Hosseini, S Mohsen SM; Lehtimäki, Terho T; Lu, Yi Y; Haller, Toomas T; Xie, Jing J; Delcourt, Cécile C; Pirastu, Mario M; Wedenoja, Juho J; Gharahkhani, Puya P; Venturini, Cristina C; Miyake, Masahiro M; Hewitt, Alex W AW; Guo, Xiaobo X; Mazur, Johanna J; Huffman, Jenifer E JE; Williams, Katie M KM; Polasek, Ozren O; Campbell, Harry H; Rudan, Igor I; Vatavuk, Zoran Z; Wilson, James F JF; Joshi, Peter K PK; McMahon, George G; St Pourcain, Beate B; Evans, David M DM; Simpson, Claire L CL; Schwantes-An, Tae-Hwi TH; Igo, Robert P RP; Mirshahi, Alireza A; Cougnard-Gregoire, Audrey A; Bellenguez, Céline C; Blettner, Maria M; Raitakari, Olli O; Kähönen, Mika M; Seppala, Ilkka I; Zeller, Tanja T; Meitinger, Thomas T; , ; Ried, Janina S JS; Gieger, Christian C; Portas, Laura L; van Leeuwen, Elisabeth M EM; Amin, Najaf N; Uitterlinden, André G AG; Rivadeneira, Fernando F; Hofman, Albert A; Vingerling, Johannes R JR; Wang, Ya Xing YX; Wang, Xu X; Tai-Hui Boh, Eileen E; Ikram, M Kamran MK; Sabanayagam, Charumathi C; Gupta, Preeti P; Tan, Vincent V; Zhou, Lei L; Ho, Candice E H CE; Lim, Wan'e W; Beuerman, Roger W RW; Siantar, Rosalynn R; Tai, E-Shyong ES; Vithana, Eranga E; Mihailov, Evelin E; Khor, Chiea-Chuen CC; Hayward, Caroline C; Luben, Robert N RN; Foster, Paul J PJ; Klein, Barbara E K BE; Klein, Ronald R; Wong, Hoi-Suen HS; Mitchell, Paul P; Metspalu, Andres A; Aung, Tin T; Young, Terri L TL; He, Mingguang M; Pärssinen, Olavi O; van Duijn, Cornelia M CM; Jin Wang, Jie J; Williams, Cathy C; Jonas, Jost B JB; Teo, Yik-Ying YY; Mackey, David A DA; Oexle, Konrad K; Yoshimura, Nagahisa N; Paterson, Andrew D AD; Pfeiffer, Norbert N; Wong, Tien-Yin TY; Baird, Paul N PN; Stambolian, Dwight D; Wilson, Joan E Bailey JE; Cheng, Ching-Yu CY; Hammond, Christopher J CJ; Klaver, Caroline C W CC; Saw, Seang-Mei SM; Rahi, Jugnoo S JS; Korobelnik, Jean-François JF; Kemp, John P JP; Timpson, Nicholas J NJ; Smith, George Davey GD; Craig, Jamie E JE; Burdon, Kathryn P KP; Fogarty, Rhys D RD; Iyengar, Sudha K SK; Chew, Emily E; Janmahasatian, Sarayut S; Martin, Nicholas G NG; MacGregor, Stuart S; Xu, Liang L; Schache, Maria M; Nangia, Vinay V; Panda-Jonas, Songhomitra S; Wright, Alan F AF; Fondran, Jeremy R JR; Lass, Jonathan H JH; Feng, Sheng S; Zhao, Jing Hua JH; Khaw, Kay-Tee KT; Wareham, Nick J NJ; Rantanen, Taina T; Kaprio, Jaakko J; Pang, Chi Pui CP; Chen, Li Jia LJ; Tam, Pancy O PO; Jhanji, Vishal V; Young, Alvin L AL; Döring, Angela A; Raffel, Leslie J LJ; Cotch, Mary-Frances MF; Li, Xiaohui X; Yip, Shea Ping SP; Yap, Maurice K H MK; Biino, Ginevra G; Vaccargiu, Simona S; Fossarello, Maurizio M; Fleck, Brian B; Yazar, Seyhan S; Tideman, Jan Willem L JW; Tedja, Milly M; Deangelis, Margaret M MM; Morrison, Margaux M; Farrer, Lindsay L; Zhou, Xiangtian X; Chen, Wei W; Mizuki, Nobuhisa N; Meguro, Akira A; Mäkelä, Kari Matti KM

Publication Date: 2016-03-29

Variant appearance in text: rs1820488

PubMed Link: 27020472

Variant Present in the following documents:

• ncomms11008-s1.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: rs1820488

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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