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Hannie Kremer

Radboud University Medical Center

65H指数
305论文数
1.7W被引数
收录论文 102
发表时间
Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa探索外显子切除作为未来治疗ADGRV1相关色素性视网膜炎的干预策略
err2025-09-03
err0
errOAAI
errMerel Stemerdink; Lucija Malinar; Sanne Broekman; Theo Peters; Iris Ensink; Maryna V. Ivanchenko; Hanka Venselaar; Hannie Kremer; Erik de Vrieze; Erwin van Wijk
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Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants通过对174个具有单等位基因致病变异的个体进行基因组测序来发现罕见的孟德尔疾病中的隐性等位基因
err2024-09-27
err2
PREAI
errSchobers, Gaby; Pennings, Maartje; de Vries, Juliette; Kwint, Michael; van Reeuwijk, Jeroen; Galbany, Jordi Corominas; van Beek, Ronald; Kamping, Eveline; Timmermans, Raoul; Kamsteeg, Erik-Jan; Haer-Wigman, Lonneke; Cremers, Frans P. M.; Roosing, Susanne; Gilissen, Christian; Kremer, Hannie; Brunner, Han G.; Yntema, Helger G.; Vissers, Lisenka E. L. M.
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The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
err2024-04-30
err1
errOAAI
errColbert, Brett M.; Lanting, Cris; Smeal, Molly; Blanton, Susan; Dykxhoorn, Derek M.; Tang, Pei-Ciao; Getchell, Richard L.; Velde, Hedwig; Fehrmann, Mirthe; Thorpe, Ryan; Chapagain, Prem; Elkhaligy, Heidy; Kremer, Hannie; Yntema, Helger; Haer-Wigman, Lonneke; Redfield, Shelby; Sun, Tieqi; Bruijn, Saskia; Plomp, Astrid; Goderie, Thade; van de Kamp, Jiddeke; Free, Rolien H.; Wassink-Ruiter, Jolien Klein; Widdershoven, Josine; Vanhoutte, Els; Rotteveel, Liselotte; Kriek, Marjolein; van Dooren, Marieke; Hoefsloot, Lies; de Gier, Heriette H. W.; Aten, E.; Widdershoven, J. C. C.; Hof, J. R.; Hellingman, K.; Vernimmen, V.; Kremer, H.; Pennings, R. J. E.; Feenstra, I.; Lanting, C. P.; Yntema, H. G.; Cals, F. L. J.; Haer-Wigman, L.; Free, R. H.; Wassink-Ruiter, J. S. Klein; Smit, A. L.; van den Boogaard, M. J.; Lachmeier, A. M. A.; Smits, J. J.; Ebbens, F. A.; Maas, S. M.; Plomp, A.; Goderie, T. P. M.; Merkus, P.; van de Kamp, J.; Schaefer, Amanda; Kolbe, Diana; Azaiez, Hela; Rabie, Grace; Aburayyan, Armal; Kawas, Mariana; Kanaan, Moien; Holder, Jourdan; Usami, Shin-ichi; Chen, Zhengyi; Dai, Pu; Holt, Jeffrey; Nelson, Rick; Choi, Byung Yoon; Shearer, Eliot; Smith, Richard J. H.; Pennings, Ronald; Liu, Xue Zhong
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Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology
errCELLS
IF5.2
err2023-06-10
err9
errOAAI
errStemerdink, Merel; Broekman, Sanne; Peters, Theo; Kremer, Hannie; de Vrieze, Erik; van Wijk, Erwin
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A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa
err2023-06-01
err3
errOAAI
errSchellens, Renske T. W.; Broekman, Sanne; Peters, Theo; Graave, Pam; Malinar, Lucija; Venselaar, Hanka; Kremer, Hannie; De Vrieze, Erik; Van Wijk, Erwin
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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
err2023-04-01
err14
errOAAI
errReurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L. Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G. Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E.; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A.; ten Brink, Jacoline B.; Klaver, Caroline C. W.; Tranebjaerg, Lisbeth; Rendtorff, Nanna D.; Vermeer, Sascha; Smits, Jeroen J.; Pennings, Ronald J. E.; Aben, Marco; Oostrik, Jaap; Astuti, Galuh D. N.; Galbany, Jordi Corominas; Kroes, Hester Y.; Phan, Milan; Zelst-Stams, Wendy A. G. van; Thiadens, Alberta A. H. J.; Verheij, Joke B. G. M.; Schooneveld, Mary J. van; Bruijn, Suzanne E. de; Li, Catherina H. Z.; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E. L. M.; Cremers, Frans P. M.; Kremer, Hannie; van Wijk, Erwin; Roosing, Susanne
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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease- associated genes光学基因组图谱和重新审视短读基因组测序数据揭示了先前被忽视的破坏视网膜疾病相关基因的结构变异
err2023-03-01
err24
errOAAI
errBruijn, Suzanne E. de; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S.; Berger, Wolfgang; Farrar, G. Jane; Kovaecs, Arpaed Ferenc; Fajardy, Isabelle; Hitti-Malin, Rebekkah J.; Weisschuh, Nicole; Weener, Marianna E.; Sharon, Dror; Pennings, Ronald J. E.; Haer-Wigman, Lonneke; Hoyng, Carel B.; Nelen, Marcel R.; Vissers, Lisenka E. L. M.; van den Born, L. Ingeborgh; Gilissen, Christian; Cremers, Frans P. M.; Hoischen, Alexander; Neveling, Kornelia; Roosing, Susanne
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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
err2022-02-28
err29
errOAAI
errVelde, Hedwig M.; Reurink, Janine; Held, Sebastian; Li, Catherina H. Z.; Yzer, Suzanne; Oostrik, Jaap; Weeda, Jack; Haer-Wigman, Lonneke; Yntema, Helger G.; Roosing, Susanne; Pauleikhoff, Laurenz; Lange, Clemens; Whelan, Laura; Dockery, Adrian; Zhu, Julia; Keegan, David J.; Farrar, G. Jane; Kremer, Hannie; Lanting, Cornelis P.; Damme, Markus; Pennings, Ronald J. E.
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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
err2021-11-01
err29
errOAAI
errPatel, Mayher J.; DiStefano, Marina T.; Oza, Andrea M.; Hughes, Madeline Y.; Wilcox, Emma H.; Hemphill, Sarah E.; Cushman, Brandon J.; Grant, Andrew R.; Siegert, Rebecca K.; Shen, Jun; Chapin, Alex; Boczek, Nicole J.; Schimmenti, Lisa A.; Nara, Kiyomitsu; Kenna, Margaret; Azaiez, Hela; Booth, Kevin T.; Avraham, Karen B.; Kremer, Hannie; Griffith, Andrew J.; Rehm, Heidi L.; Amr, Sami S.; Abou Tayoun, Ahmad N.
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Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations
err2021-08-01
err86
errOAAI
errDulla, Kalyan; Slijkerman, Ralph; van Diepen, Hester C.; Albert, Silvia; Dona, Margo; Beumer, Wouter; Turunen, Janne J.; Chan, Hee Lam; Schulkens, Iris A.; Vorthoren, Lars; den Besten, Cathaline; Buil, Levi; Schmidt, Iris; Miao, Jiayi; Venselaar, Hanka; Zang, Jingjing; Neuhauss, Stephan C. F.; Peters, Theo; Broekman, Sanne; Pennings, Ronald; Kremer, Hannie; Platenburg, Gerard; Adamson, Peter; de Vrieze, Erik; van Wijk, Erwin
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AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9
err2021-06-01
err12
errOAAI
errde Vrieze, Erik; Martin, Jorge Canas; Peijnenborg, Jolien; Martens, Aniek; Oostrik, Jaap; van den Heuvel, Simone; Neveling, Kornelia; Pennings, Ronald; Kremer, Hannie; van Wijk, Erwin
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Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
err2021-05-31
err7
errOAAI
errBassani, Sissy; van Beelen, Edward; Rossel, Mireille; Voisin, Norine; Morgan, Anna; Arribat, Yoan; Chatron, Nicolas; Chrast, Jacqueline; Cocca, Massimiliano; Delprat, Benjamin; Faletra, Flavio; Giannuzzi, Giuliana; Guex, Nicolas; Machavoine, Roxane; Pradervand, Sylvain; Smits, Jeroen J.; van de Kamp, Jiddeke M.; Ziegler, Alban; Amati, Francesca; Marlin, Sandrine; Kremer, Hannie; Locher, Heiko; Maurice, Tangui; Gasparini, Paolo; Girotto, Giorgia; Reymond, Alexandre
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Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing
err2021-05-01
err21
errOAAI
errChen, Tingfang; Rohacek, Alex M.; Caporizzo, Matthew; Nankali, Amir; Smits, Jeroen J.; Oostrik, Jaap; Lanting, Cornelis P.; Kucuk, Erdi; Gilissen, Christian; van de Kamp, Jiddeke M.; Pennings, Ronald J. E.; Rakowiecki, Staci M.; Kaestner, Klaus H.; Ohlemiller, Kevin K.; Oghalai, John S.; Kremer, Hannie; Prosser, Benjamin L.; Epstein, Douglas J.
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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa显性视网膜色素变性的结构变异创造了新的拓扑相关结构域和异位视网膜增强子-基因接触
err2020-11-01
err81
errOAAI
errde Bruijn, Suzanne E.; Fiorentino, Alessia; Ottaviani, Daniele; Fanucchi, Stephanie; Melo, Uira S.; Corral-Serrano, Julio C.; Mulders, Timo; Georgiou, Michalis; Rivolta, Carlo; Pontikos, Nikolas; Arno, Gavin; Roberts, Lisa; Greenberg, Jacquie; Albert, Silvia; Gilissen, Christian; Aben, Marco; Rebello, George; Mead, Simon; Raymond, F. Lucy; Corominas, Jordi; Smith, Claire E. L.; Kremer, Hannie; Downes, Susan; Black, Graeme C.; Webster, Andrew R.; Inglehearn, Chris F.; van den Born, L. Ingeborgh; Koenekoop, Robert K.; Michaelides, Michel; Ramesar, Raj S.; Hoyng, Carel B.; Mundlos, Stefan; Mhlanga, Musa M.; Cremers, Frans P. M.; Cheetham, Michael E.; Roosing, Susanne; Hardcastle, Alison J.
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A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
err2020-07-06
err16
errOAAI
errde Bruijn, Suzanne E.; Smits, Jeroen J.; Liu, Chang; Lanting, Cornelis P.; Beynon, Andy J.; Blankevoort, Joelle; Oostrik, Jaap; Koole, Wouter; de Vrieze, Erik; Cremers, Cor W. R. J.; Cremers, Frans P. M.; Roosing, Susanne; Yntema, Helger G.; Kunst, Henricus P. M.; Zhao, Bo; Pennings, Ronald J. E.; Kremer, Hannie
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ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairsClinGen专家164听力损失基因-疾病对的临床有效性治疗
err2019-10-01
err70
errOAAI
errDiStefano, Marina T.; Hemphill, Sarah E.; Oza, Andrea M.; Siegert, Rebecca K.; Grant, Andrew R.; Hughes, Madeline Y.; Cushman, Brandon J.; Azaiez, Hela; Booth, Kevin T.; Chapin, Alex; Duzkale, Hatice; Matsunaga, Tatsuo; Shen, Jun; Zhang, Wenying; Kenna, Margaret; Schimmenti, Lisa A.; Tekin, Mustafa; Rehm, Heidi L.; Abou Tayoun, Ahmad N.; Amr, Sami S.; Abdelhak, Sonia; Alexander, John; Avraham, Karen; Bhatia, Neha; Bai, Donglin; Boczek, Nicole; Brownstein, Zippora; Burt, Rachel; Bylstra, Yasmin; del Castillo, Ignacio; Choi, Byung Yoon; Downie, Lilian; Friedman, Thomas; Giersch, Anne; Goh, Jasmine; Greinwald, John; Griffith, Andrew J.; Hernandez, Amy; Holt, Jeffrey; Hosoya, Makoto; Ying, Lim Jiin; Jain, Kanika; Kim, Un-Kyung; Kremer, Hannie; Krantz, Ian; Leal, Suzanne; Lewis, Morag; Liu, Xue Zhong; Low, Wendy; Lu, Yu; Luo, Minjie; Masmoudi, Saber; Ming, Tan Yuen; Moreno-Pelayo, Miguel Angel; Morin, Matias; Morton, Cynthia; Murray, Jaclyn; Mutai, Hideki; Nara, Kiyomitsu; Pandya, Arti; Pei-Rong, Sylvia Kam; Smith, Richard J. H.; Jamuar, Saumya Shekhar; Suer, Funda Elif; Usami, Shin-Ichi; Van Camp, Guy; Yamazawa, Kazuki; Yuan, Hui-Jun; Black-Zeigelbein, Elizabeth; Zhang, Keijan
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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
err2019-05-01
err15
errOAAI
errSchrauwen, Isabelle; Valgaeren, Hanne; Tomas-Roca, Laura; Sommen, Manou; Altunoglu, Umut; Wesdorp, Mieke; Beyens, Matthias; Fransen, Erik; Nasir, Abdul; Vandeweyer, Geert; Schepers, Anne; Rahmoun, Malika; van Beusekom, Ellen; Huentelman, Matt J.; Offeciers, Erwin; Dhooghe, Ingeborg; Huber, Alex; Van de Heyning, Paul; Zanetti, Diego; De Leenheer, Els M. R.; Gilissen, Christian; Hoischen, Alexander; Cremers, Cor W.; Verbist, Berit; de Brouwer, Arjan P. M.; Padberg, George W.; Pennings, Ronald; Kayserili, Hulya; Kremer, Hannie; Van Camp, Guy; van Bokhoven, Hans
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Further delineation of the critical region for Noonan syndrome on the long arm of chromosome 12
err2019-02-19
err23
errOAAI
errBrady, AF; Jamieson, CR; vanderBurgt, I; Crosby, A; vanReen, M; Kremer, H; Mariman, E; Patton, MA; Jeffery, S
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