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Author/Creator de Vrieze, Erik

1. A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype. Issue 4 (April 2021)

Authors:
Smits, Jeroen J.; van Beelen, Eline; Weegerink, Nicole J. D.; Oostrik, Jaap; Huygen, Patrick L. M.; Beynon, Andy J.; Lanting, Cornelis P.; Kunst, Henricus P. M.; Schraders, Margit; Kremer, Hannie; de Vrieze, Erik; Pennings, Ronald J. E.
Journal:
Otology & neurotology
Issue:
Volume 42:Issue 4(2021)
Page Start:
Record Type:
Journal Article
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2. A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss. Issue 2 (6th July 2020)

Authors:
de Bruijn, Suzanne E; Smits, Jeroen J; Liu, Chang; Lanting, Cornelis P; Beynon, Andy J; Blankevoort, Joëlle; 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
Other Names:
author non-byline.; van Dooren M F author non-byline.; de Gier H H W author non-byline.; Hoefsloot E H author non-byline.; van der Schroeff M P author non-byline.; Kant S G author non-byline.; Rotteveel L J C author non-byline.; Ropers F G author non-byline.; Widdershoven J C C author non-byline...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 2(2021)
Page Start:
96
Record Type:
Journal Article
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3. Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. (30th January 2020)

Authors:
Toms, Maria; Dubis, Adam M; de Vrieze, Erik; Tracey-White, Dhani; Mitsios, Andreas; Hayes, Matthew; Broekman, Sanne; Baxendale, Sarah; Utoomprurkporn, Nattawan; Bamiou, Doris; Bitner-Glindzicz, Maria; Webster, Andrew R; Van Wijk, Erwin; Moosajee, Mariya
Journal:
Human molecular genetics
Issue:
Volume 29:Number 11(2020)
Page Start:
1882
Record Type:
Journal Article
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4. Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. Issue 10 (17th August 2018)

Authors:
de Bruijn, Suzanne E; Verbakel, Sanne K; de Vrieze, Erik; Kremer, Hannie; Cremers, Frans P M; Hoyng, Carel B; van den Born, L Ingeborgh; Roosing, Susanne
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 10(2018)
Page Start:
705
Record Type:
Journal Article
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5. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Issue 1 (December 2015)

Authors:
Sanders, Anna; de Vrieze, Erik; Alazami, Anas; Alzahrani, Fatema; Malarkey, Erik; Sorusch, Nasrin; Tebbe, Lars; Kuhns, Stefanie; van Dam, Teunis; Alhashem, Amal; Tabarki, Brahim; Lu, Qianhao; Lambacher, Nils; Kennedy, Julie; Bowie, Rachel; Hetterschijt, Lisette; van Beersum, Sylvia; van Reeuwijk,...
Journal:
Genome biology
Issue:
Volume 16:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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6. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. Issue 9 (25th April 2017)

Authors:
Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webst...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 9(2017)
Page Start:
624
Record Type:
Journal Article
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7. Usherin defects lead to early-onset retinal dysfunction in zebrafish. (August 2018)

Authors:
Dona, Margo; Slijkerman, Ralph; Lerner, Kimberly; Broekman, Sanne; Wegner, Jeremy; Howat, Taylor; Peters, Theo; Hetterschijt, Lisette; Boon, Nanda; de Vrieze, Erik; Sorusch, Nasrin; Wolfrum, Uwe; Kremer, Hannie; Neuhauss, Stephan; Zang, Jingjing; Kamermans, Maarten; Westerfield, Monte; Phillips, ...
Journal:
Experimental eye research
Issue:
Volume 173(2018)
Page Start:
148
Record Type:
Journal Article
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8. Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. (19th December 2017)

Authors:
Weisz Hubshman, Monika; Broekman, Sanne; van Wijk, Erwin; Cremers, Frans; Abu-Diab, Alaa; Khateb, Samer; Tzur, Shay; Lagovsky, Irina; Smirin-Yosef, Pola; Sharon, Dror; Haer-Wigman, Lonneke; Banin, Eyal; Basel-Vanagaite, Lina; de Vrieze, Erik
Journal:
Human molecular genetics
Issue:
Volume 27:Number 4(2018:Feb. 15)
Page Start:
614
Record Type:
Journal Article
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