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Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population

最佳疾病：全球突变回顾、基因型-表型相关性及以色列人群患病率分析

期刊:Investigative Ophthalmology & Visual Science

doi:10.1167/iovs.65.2.39

Beryozkin, Avigail; Sher, Ifat; Ehrenberg, Miriam; Zur, Dinah; Newman, Hadas; Gradstein, Libe; Simaan, Francis; Rotenstreich, Ygal; Goldenberg-Cohen, Nitza; Bahar, Irit; Blumenfeld, Anat; Rivera, Antonio; Rosin, Boris; Deitch-Harel, Iris; Perlman, Ido; Mechoulam, Hadas; Chowers, Itay; Leibu, Rina; Ben-Yosef, Tamar; Pras, Eran; Banin, Eyal; Sharon, Dror; Khateb, Samer

发表日期：2024

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An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

CYP4V2基因作为比埃蒂晶状体营养不良症病因的全球单基因携带者频率和遗传流行率的深入分析

期刊:Translational Vision Science & Technology

影响因子:2.6

doi:10.1167/tvst.12.2.27

Hanany, Mor; Yang, Richard Rui; Lam, Chun Man; Beryozkin, Avigail; Sundaresan, Yogapriya; Sharon, Dror

发表日期：2023

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Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy.

Zeste同源物2增强子（EZH2）在多种视网膜变性中促进视杆感光细胞死亡过程，其活性可作为治疗效果的生物标志物

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms22179331

Mbefo Martial, Berger Adeline, Schouwey Karine, GÃ©rard Xavier, Kostic Corinne, Beryozkin Avigail, Sharon Dror, Dolfuss HÃ©lÃ¨ne, Munier Francis, Tran Hoai Viet, van Lohuizen Maarten, Beltran William A, Arsenijevic Yvan

细胞生物学

发表日期：2021

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Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients

RPGRIP1相关视网膜变性：228例患者的自然病史、突变谱及基因型-表型相关性回顾

期刊:Frontiers in Cell and Developmental Biology

影响因子:4.3

doi:10.3389/fcell.2021.746781

Beryozkin, Avigail; Aweidah, Hamzah; Carrero Valenzuela, Roque Daniel; Berman, Myriam; Iguzquiza, Oscar; Cremers, Frans P M; Khan, Muhammad Imran; Swaroop, Anand; Amer, Radgonde; Khateb, Samer; Ben-Yosef, Tamar; Sharon, Dror; Banin, Eyal

RIP

发表日期：2021

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Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

全外显子组测序鉴定出双等位基因IDH3A变异是伴有假性眼裂的视网膜色素变性的病因

期刊:Ophthalmology

影响因子:9.5

doi:10.1016/j.ophtha.2017.03.010

Pierrache, Laurence H M; Kimchi, Adva; Ratnapriya, Rinki; Roberts, Lisa; Astuti, Galuh D N; Obolensky, Alexey; Beryozkin, Avigail; Tjon-Fo-Sang, Martha J H; Schuil, Jose; Klaver, Caroline C W; Bongers, Ernie M H F; Haer-Wigman, Lonneke; Schalij, Nicoline; Breuning, Martijn H; Fischer, Gratia M; Banin, Eyal; Ramesar, Raj S; Swaroop, Anand; van den Born, L Ingeborgh; Sharon, Dror; Cremers, Frans P M

发表日期：2017

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Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

全外显子组测序揭示，在68个患有遗传性视网膜病的以色列家庭中，有33个家庭存在已知视网膜疾病基因的突变。

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/srep13187

Beryozkin, Avigail; Shevah, Elia; Kimchi, Adva; Mizrahi-Meissonnier, Liliana; Khateb, Samer; Ratnapriya, Rinki; Lazar, Csilla H; Blumenfeld, Anat; Ben-Yosef, Tamar; Hemo, Yitzhak; Pe'er, Jacob; Averbuch, Eduard; Sagi, Michal; Boleda, Alexis; Gieser, Linn; Zlotogorski, Abraham; Falik-Zaccai, Tzipora; Alimi-Kasem, Ola; Jacobson, Samuel G; Chowers, Itay; Swaroop, Anand; Banin, Eyal; Sharon, Dror

发表日期：2015

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Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF

以色列一个近亲结婚家庭中出现的非综合征型早发性锥杆细胞营养不良和肢带型肌营养不良是由ALMS1和DYSF基因中两个独立但连锁的突变引起的。

期刊:Human Mutation

影响因子:3.7

doi:10.1002/humu.22822

Lazar, Csilla H; Kimchi, Adva; Namburi, Prasanthi; Mutsuddi, Mousumi; Zelinger, Lina; Beryozkin, Avigail; Ben-Simhon, Shiran; Obolensky, Alexey; Ben-Neriah, Ziva; Argov, Zohar; Pikarsky, Eli; Fellig, Yakov; Marks-Ohana, Devorah; Ratnapriya, Rinki; Banin, Eyal; Sharon, Dror; Swaroop, Anand

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

外显子组测序和顺式调控图谱分析发现，MAK基因（编码纤毛长度调节因子）的突变是视网膜色素变性的病因。

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2011.07.005

Ozgül, Rıza Köksal; Siemiatkowska, Anna M; Yücel, Didem; Myers, Connie A; Collin, Rob W J; Zonneveld, Marijke N; Beryozkin, Avigail; Banin, Eyal; Hoyng, Carel B; van den Born, L Ingeborgh; Bose, Ron; Shen, Wei; Sharon, Dror; Cremers, Frans P M; Klevering, B Jeroen; den Hollander, Anneke I; Corbo, Joseph C

信号转导

发表日期：2011

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Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report

非综合征型MFSD8相关疾病的纯黄斑表型：病例报告

Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population

最佳疾病：全球突变回顾、基因型-表型相关性及以色列人群患病率分析

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

CYP4V2基因作为比埃蒂晶状体营养不良症病因的全球单基因携带者频率和遗传流行率的深入分析

Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy.

Zeste同源物2增强子（EZH2）在多种视网膜变性中促进视杆感光细胞死亡过程，其活性可作为治疗效果的生物标志物

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients

RPGRIP1相关视网膜变性：228例患者的自然病史、突变谱及基因型-表型相关性回顾

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

全外显子组测序鉴定出双等位基因IDH3A变异是伴有假性眼裂的视网膜色素变性的病因

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

全外显子组测序揭示，在68个患有遗传性视网膜病的以色列家庭中，有33个家庭存在已知视网膜疾病基因的突变。

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF

以色列一个近亲结婚家庭中出现的非综合征型早发性锥杆细胞营养不良和肢带型肌营养不良是由ALMS1和DYSF基因中两个独立但连锁的突变引起的。

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

外显子组测序和顺式调控图谱分析发现，MAK基因（编码纤毛长度调节因子）的突变是视网膜色素变性的病因。