Publications:

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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: rs10405617

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: rs10405617

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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Causal Relationships Between Social Isolation and Osteoarthritis: A Mendelian Randomization Study in European Population.

International Journal Of General Medicine

Zheng, Cong C; He, Min-Hui MH; Huang, Jian-Rong JR; He, Yi Y

Publication Date: 2021

Variant appearance in text: rs10405617

PubMed Link: 34703283

Variant Present in the following documents:

• Main text
• ijgm-14-6777.pdf

View BVdb publication page

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Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.

Cell

Boer, Cindy G CG; Hatzikotoulas, Konstantinos K; Southam, Lorraine L; Stefánsdóttir, Lilja L; Zhang, Yanfei Y; Coutinho de Almeida, Rodrigo R; Wu, Tian T TT; Zheng, Jie J; Hartley, April A; Teder-Laving, Maris M; Skogholt, Anne Heidi AH; Terao, Chikashi C; Zengini, Eleni E; Alexiadis, George G; Barysenka, Andrei A; Bjornsdottir, Gyda G; Gabrielsen, Maiken E ME; Gilly, Arthur A; Ingvarsson, Thorvaldur T; Johnsen, Marianne B MB; Jonsson, Helgi H; Kloppenburg, Margreet M; Luetge, Almut A; Lund, Sigrun H SH; Mägi, Reedik R; Mangino, Massimo M; Nelissen, Rob R G H H RRGHH; Shivakumar, Manu M; Steinberg, Julia J; Takuwa, Hiroshi H; Thomas, Laurent F LF; Tuerlings, Margo M; , ; , ; , ; , ; Babis, George C GC; Cheung, Jason Pui Yin JPY; Kang, Jae Hee JH; Kraft, Peter P; Lietman, Steven A SA; Samartzis, Dino D; Slagboom, P Eline PE; Stefansson, Kari K; Thorsteinsdottir, Unnur U; Tobias, Jonathan H JH; Uitterlinden, André G AG; Winsvold, Bendik B; Zwart, John-Anker JA; Davey Smith, George G; Sham, Pak Chung PC; Thorleifsson, Gudmar G; Gaunt, Tom R TR; Morris, Andrew P AP; Valdes, Ana M AM; Tsezou, Aspasia A; Cheah, Kathryn S E KSE; Ikegawa, Shiro S; Hveem, Kristian K; Esko, Tõnu T; Wilkinson, J Mark JM; Meulenbelt, Ingrid I; Lee, Ming Ta Michael MTM; van Meurs, Joyce B J JBJ; Styrkársdóttir, Unnur U; Zeggini, Eleftheria E

Publication Date: 2021-09-02

Variant appearance in text: rs10405617

PubMed Link: 34450027

Variant Present in the following documents:

• Main text

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: rs10405617

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs10405617

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_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: rs10405617

PubMed Link: 30319441

Variant Present in the following documents:

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

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: rs10405617

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: rs10405617

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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