日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

对大量听力障碍患者进行外显子组变异优先排序表明，IKZF2 与非综合征性听力损失相关，并指导未来对未解决病例的研究

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-024-02706-w
Velde Hedwig M, Vaseghi-Shanjani Maryam, Smits Jeroen J, Ramakrishnan Gayatri, Oostrik Jaap, Wesdorp Mieke, Astuti Galuh, Yntema Helger G, Hoefsloot Lies, Lanting Cris P, Huynen Martijn A, Lehman Anna, Turvey Stuart E, Pennings Ronald J E, Kremer Hannie
IKZF2
发表日期：2024
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Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38

对一种与 DFNA6/14/38 相关的新型 WFS1 变异体 (c.2512C>T p.(Pro838Ser)) 进行基因型和表型分析

期刊:Genes
影响因子:2.8
doi:10.3390/genes14020457
Velde, Hedwig M; Huizenga, Xanne J J; Yntema, Helger G; Haer-Wigman, Lonneke; Beynon, Andy J; Oostrik, Jaap; Pegge, Sjoert A H; Kremer, Hannie; Lanting, Cris P; Pennings, Ronald J E
发表日期：2023
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Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

更正：探索听力损失、前庭导水管扩大且携带单个或无致病性 SLC26A4 变异的受试者中缺失的遗传性

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-021-02377-x
Smits, Jeroen J; de Bruijn, Suzanne E; Lanting, Cornelis P; Oostrik, Jaap; O'Gorman, Luke; Mantere, Tuomo; Cremers, Frans P M; Roosing, Susanne; Yntema, Helger G; de Vrieze, Erik; Derks, Ronny; Hoischen, Alexander; Pegge, Sjoert A H; Neveling, Kornelia; Pennings, Ronald J E; Kremer, Hannie
发表日期：2022
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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

探索听力损失、前庭导水管扩大且携带单个或无致病性SLC26A4变异的受试者中缺失的遗传性

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-021-02336-6
Smits, Jeroen J; de Bruijn, Suzanne E; Lanting, Cornelis P; Oostrik, Jaap; O'Gorman, Luke; Mantere, Tuomo; Cremers, Frans P M; Roosing, Susanne; Yntema, Helger G; de Vrieze, Erik; Derks, Ronny; Hoischen, Alexander; Pegge, Sjoert A H; Neveling, Kornelia; Pennings, Ronald J E; Kremer, Hannie
发表日期：2022
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Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

与非综合征性耳聋相关的新型和复发性CIB2变异体并不影响毛细胞中的钙缓冲和定位。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2015.157
Seco, Celia Zazo; Giese, Arnaud P; Shafique, Sobia; Schraders, Margit; Oonk, Anne M M; Grossheim, Mike; Oostrik, Jaap; Strom, Tim; Hegde, Rashmi; van Wijk, Erwin; Frolenkov, Gregory I; Azam, Maleeha; Yntema, Helger G; Free, Rolien H; Riazuddin, Saima; Verheij, Joke B G M; Admiraal, Ronald J; Qamar, Raheel; Ahmed, Zubair M; Kremer, Hannie
细胞生物学
发表日期：2016
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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

CLIC5基因纯合无义突变导致进行性听力丧失和前庭功能障碍

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2014.83
Seco, Celia Zazo; Oonk, Anne M M; Domínguez-Ruiz, María; Draaisma, Jos M T; Gandía, Marta; Oostrik, Jaap; Neveling, Kornelia; Kunst, Henricus P M; Hoefsloot, Lies H; del Castillo, Ignacio; Pennings, Ronald J E; Kremer, Hannie; Admiraal, Ronald J C; Schraders, Margit
发表日期：2015
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Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

编码耳凝蛋白的基因突变是常染色体隐性遗传性非综合征型中度听力障碍的病因。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.09.012
Schraders, Margit; Ruiz-Palmero, Laura; Kalay, Ersan; Oostrik, Jaap; del Castillo, Francisco J; Sezgin, Orhan; Beynon, Andy J; Strom, Tim M; Pennings, Ronald J E; Zazo Seco, Celia; Oonk, Anne M M; Kunst, Henricus P M; Domínguez-Ruiz, María; García-Arumi, Ana M; del Campo, Miguel; Villamar, Manuela; Hoefsloot, Lies H; Moreno, Felipe; Admiraal, Ronald J C; del Castillo, Ignacio; Kremer, Hannie
发表日期：2012
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Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss

编码内耳蛋白耳凝集素样蛋白的 OTOGL 基因突变会导致中度感音神经性听力损失。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.09.011
Yariz, Kemal O; Duman, Duygu; Zazo Seco, Celia; Dallman, Julia; Huang, Mingqian; Peters, Theo A; Sirmaci, Asli; Lu, Na; Schraders, Margit; Skromne, Isaac; Oostrik, Jaap; Diaz-Horta, Oscar; Young, Juan I; Tokgoz-Yilmaz, Suna; Konukseven, Ozlem; Shahin, Hashem; Hetterschijt, Lisette; Kanaan, Moien; Oonk, Anne M M; Edwards, Yvonne J K; Li, Huawei; Atalay, Semra; Blanton, Susan; Desmidt, Alexandra A; Liu, Xue-Zhong; Pennings, Ronald J E; Lu, Zhongmin; Chen, Zheng-Yi; Kremer, Hannie; Tekin, Mustafa
发表日期：2012
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Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

新一代测序技术发现，编码小肌肉蛋白的SMPX基因突变（X连锁）是导致进行性听力障碍的原因。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.04.012
Schraders, Margit; Haas, Stefan A; Weegerink, Nicole J D; Oostrik, Jaap; Hu, Hao; Hoefsloot, Lies H; Kannan, Sriram; Huygen, Patrick L M; Pennings, Ronald J E; Admiraal, Ronald J C; Kalscheuer, Vera M; Kunst, Henricus P M; Kremer, Hannie
Sequencing
发表日期：2011
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Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

纯合性作图分析揭示GRXCR1基因突变是常染色体隐性遗传非综合征型听力障碍的病因。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.12.017
Schraders, Margit; Lee, Kwanghyuk; Oostrik, Jaap; Huygen, Patrick L M; Ali, Ghazanfar; Hoefsloot, Lies H; Veltman, Joris A; Cremers, Frans P M; Basit, Sulman; Ansar, Muhammad; Cremers, Cor W R J; Kunst, Henricus P M; Ahmad, Wasim; Admiraal, Ronald J C; Leal, Suzanne M; Kremer, Hannie
CR1
发表日期：2010
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