Hannie Kremer - Radboud University Medical Centre (Radboudumc)

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论文共 305 篇作者统计合作学者相似作者

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Deciphering the Largest Disease-Associated Transcript Isoforms in the Human Neural Retina with Advanced Long-Read Sequencing Approaches

Merel Stemerdink, Tabea Riepe, Nick Zomer,Renee Salz,Michael Kwint, Jaap Oostrik, Raoul Timmermans,Barbara Ferrari,Stefano Ferrari,Alfredo Dueñas Rey, Emma Delanote, Suzanne E de Bruijn,Hannie Kremer,Susanne Roosing,Frauke Coppieters,Alexander Hoischen,Frans P M Cremers, Peter A C 't Hoen,Erwin van Wijk, Erik de Vrieze

Genome researchno. 4 (2025): 725-739

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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

Hedwig M. Velde,Maryam Vaseghi-Shanjani,Jeroen J. Smits, Gayatri Ramakrishnan,Jaap Oostrik,Mieke Wesdorp,Galuh Astuti,Helger G. Yntema,Lies Hoefsloot,Cris P. Lanting,Martijn A. Huynen,Anna Lehman,Stuart E. Turvey,Ronald J. E. Pennings,Hannie Kremer

Human Genetics（2024）

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The Natural History and Genotype–phenotype Correlations of TMPRSS3 Hearing Loss: an International, Multi-Center, Cohort Analysis

Brett M. Colbert,Cris Lanting,Molly Smeal,Susan Blanton,Derek M. Dykxhoorn,Pei-Ciao Tang, Richard L. Getchell,Hedwig Velde, Mirthe Fehrmann,Ryan Thorpe,Prem Chapagain,Heidy Elkhaligy,Hannie Kremer,Helger Yntema,Lonneke Haer-Wigman,Shelby Redfield, Tieqi Sun, Saskia Bruijn,Astrid Plomp,Thadé Goderie,Jiddeke van de Kamp,Rolien H. Free,Jolien Klein Wassink-Ruiter,Josine Widdershoven,Els Vanhoutte,Liselotte Rotteveel,Marjolein Kriek,Marieke van Dooren,Lies Hoefsloot, Heriette H. W. de Gier,Amanda Schaefer,Diana Kolbe,Hela Azaiez,Grace Rabie, Armal Aburayyan, Mariana Kawas,Moien Kanaan,Jourdan Holder,Shin-ichi Usami,Zhengyi Chen,Pu Dai,Jeffrey Holt,Rick Nelson,Byung Yoon Choi,Eliot Shearer,Richard J. H. Smith,Ronald Pennings,Xue Zhong Liu

Human Geneticspp.1-14, (2024)

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Exploring Exon-Skipping As a Therapeutic Intervention Strategy for the Future Treatment of ADGRVI-associated Retinitis Pigmentosa

Merel Stemerdink,Sanne Broekman, Lucija Malinar,Theo Peters,Hanka Venselaar,Hannie Kremer, Erik Vrieze, Erwin Wijk

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 7 (2024)

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Pushing the Limits of Single Molecule Transcript Sequencing to Uncover the Largest Disease-Associated Transcript Isoforms in the Human Neural Retina

Merel Stemerdink,Tabea Riepe, Nick Zomer,Renee Salz,Michael Kwint,Raoul Timmermans,Barbara Ferrari,Stefano Ferrari,Alfredo Dueñas Rey, Emma Delanote,Suzanne E. de Bruijn,Hannie Kremer,Susanne Roosing,Frauke Coppieters,Alexander Hoischen,Frans P. M. Cremers,Peter A.C. ’t Hoen,Erwin van Wijk,Erik de Vrieze

biorxiv（2024）

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Whole Genome Sequencing Revealed Causative Deep-Intronic PCDH15 and De Novo USH2A Variants in Patients with Usher Syndrome

Kim Rodenburg,L. Ingeborgh van den Born,Lonneke Haer-Wigman,Janine Reurink,Christian Gilissen,Frans P. M. Cremers,Tamar Ben-Yosef,Helger Yntema, Erik Vrieze,Ulrich Zechner,David Rosenkranz,Hannie Kremer, Erwin Wijk,Hanno J. Bolz,Suzanne E. de Bruijn,Susanne Roosing

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2024）

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SpliceAI Scores of USH2A Variants Are Predictive of Aberrant Splicing in Minigene Assays

Janine Reurink,Jaap Oostrik,Marco Aben,Mariana Guimaraes Ramos,Monika Oldak,Erwin van Wijk,Frans P. M. Cremers,Hannie Kremer,Susanne Roosing

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 374-374

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Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512c>t P.(pro838ser)) Associated with DFNA6/14/38

Hedwig M. M. Velde, Xanne J. J. Huizenga,Helger G. G. Yntema,Lonneke Haer-Wigman,Andy J. J. Beynon,Jaap Oostrik,Sjoert A. H. Pegge,Hannie Kremer,Cris P. P. Lanting,Ronald J. E. Pennings

Genes（2023）

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Analysis of Rotterdam Study Cohorts Confirms a Previously Identified RIPOR2 In-Frame Deletion As a Prevalent Genetic Factor in Phenotypically Variable Adult-Onset Hearing Loss (DFNA21) in the Netherlands

Hedwig M. Velde,Nienke C. Homans,Andre Goedegebure,Cornelis P. Lanting,Ronald J. E. Pennings,Hannie Kremer

JOURNAL OF MEDICAL GENETICSno. 11 (2023): 1061-1066

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