Publications:

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Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients.

Journal Of Clinical Medicine

Wąsowska, Anna A; Teper, Sławomir S; Matczyńska, Ewa E; Łyszkiewicz, Przemysław P; Sendecki, Adam A; Machalińska, Anna A; Wylęgała, Edward E; Boguszewska-Chachulska, Anna A

Publication Date: 2022-12-30

Variant appearance in text: rs2297634

PubMed Link: 36615095

Variant Present in the following documents:

• Main text
• jcm-12-00295.pdf

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: rs2297634

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_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: rs2297634

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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Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients.

Journal Of Ophthalmic & Vision Research

Darbari, Ensieh E; Ahmadieh, Hamid H; Daftarian, Narsis N; Rezaei Kanavi, Mozhgan M; Suri, Fatemeh F; Sabbaghi, Hamideh H; Elahi, Elahe E

Publication Date: 2022

Variant appearance in text: rs2297634

PubMed Link: 35194496

Variant Present in the following documents:

• jovr-17-51.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: ABCA4: 302+26A>G; rs2297634

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: rs2297634

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: rs2297634

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: ABCA4: 302+26A>G; rs2297634

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ABCA4: 302+26A>G; rs2297634

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.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: rs2297634

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: rs2297634

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.

Biomed Research International

Battu, Rajani R; Verma, Anshuman A; Hariharan, Ramesh R; Krishna, Shuba S; Kiran, Ravi R; Jacob, Jemima J; Ganapathy, Aparna A; Ramprasad, Vedam L VL; Kumaramanickavel, Govindasamy G; Jeyabalan, Nallathambi N; Ghosh, Arkasubhra A

Publication Date: 2015

Variant appearance in text: STGD: 302+26A>G; rs2297634

PubMed Link: 25922843

Variant Present in the following documents:

• Main text
• BMRI2015-940864.pdf

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: rs2297634

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Using current data to define new approach in age related macular degeneration: need to accelerate translational research.

Current Genomics

Anand, Akshay A; Sharma, Kaushal K; Chen, Wei W; Sharma, Neel Kamal NK

Publication Date: 2014-08

Variant appearance in text: rs2297634

PubMed Link: 25132797

Variant Present in the following documents:

• Main text
• CG-15-266.pdf

View BVdb publication page

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Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms.

Blood

Rumi, Elisa E; Pietra, Daniela D; Guglielmelli, Paola P; Bordoni, Roberta R; Casetti, Ilaria I; Milanesi, Chiara C; Sant'Antonio, Emanuela E; Ferretti, Virginia V; Pancrazzi, Alessandro A; Rotunno, Giada G; Severgnini, Marco M; Pietrelli, Alessandro A; Astori, Cesare C; Fugazza, Elena E; Pascutto, Cristiana C; Boveri, Emanuela E; Passamonti, Francesco F; De Bellis, Gianluca G; Vannucchi, Alessandro A; Cazzola, Mario M; ,

Publication Date: 2013-05-23

Variant appearance in text: rs2297634

PubMed Link: 23575445

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

European Journal Of Human Genetics : Ejhg

Jonsson, Frida F; Burstedt, Marie S MS; Sandgren, Ola O; Norberg, Anna A; Golovleva, Irina I

Publication Date: 2013-11

Variant appearance in text: STGD1: 302+26A>G; rs2297634

PubMed Link: 23443024

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study.

Molecular Vision

Ryu, Euijung E; Fridley, Brooke L BL; Tosakulwong, Nirubol N; Bailey, Kent R KR; Edwards, Albert O AO

Publication Date: 2010-12-17

Variant appearance in text: rs2297634

PubMed Link: 21197116

Variant Present in the following documents:

• Main text
• mv-v16-2811.pdf

View BVdb publication page

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ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Molecular Vision

Maia-Lopes, Susana S; Aguirre-Lamban, Jana J; Castelo-Branco, Miguel M; Riveiro-Alvarez, Rosa R; Ayuso, Carmen C; Silva, Eduardo Duarte ED

Publication Date: 2009

Variant appearance in text: STGD: 302+26A>G

PubMed Link: 19365591

Variant Present in the following documents:

• Main text
• mv-v15-584.pdf

View BVdb publication page

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