Yntema Helger G - Radboud Inst Mol Life Sci, Radboud Univ Nijmegen

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论文共 157 篇作者统计合作学者相似作者

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Uncovering Recessive Alleles in Rare Mendelian Disorders by Genome Sequencing of 174 Individuals with Monoallelic Pathogenic Variants

Gaby Schobers,Maartje Pennings,Juliette de Vries,Michael Kwint,Jeroen van Reeuwijk,Jordi Corominas Galbany,Ronald van Beek,Eveline Kamping,Raoul Timmermans,Erik-Jan Kamsteeg,Lonneke Haer-Wigman,Frans P M Cremers,Susanne Roosing,Christian Gilissen,Hannie Kremer,Han G Brunner,Helger G Yntema, Lisenka E L M Vissers

European journal of human genetics EJHG (2024)

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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 Geneticspp.1-21, (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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HiFi Long-Read Genomes for Difficult-to-detect Clinically Relevant Variants

Wolfram Hoeps,Marjan M. Weiss,Ronny Derks,Jordi Corominas Galbany,Amber den Ouden,Simone van den Heuvel,Raoul Timmermans, Jos Smits,Tom Mokveld,Egor Dolzhenko,Xiao Chen,Arthur van den Wijngaard, Michael A. Eberle,Helger G. Yntema,Alexander Hoischen,Christian Gilissen, Lisenka E.L.M. Vissers

crossref（2024）

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DeNovoCNN: a Deep Learning Approach to De Novo Variant Calling in Next Generation Sequencing Data

Gelana Khazeeva,Karolis Sablauskas,Bart Van der Sanden,Wouter Steyaert,Michael Kwint,Dmitrijs Rots,Max Hinne,Marcel van Gerven,Helger Yntema,Lisenka Vissers,Christian Gilissen

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Exploring Uncertainties Regarding Unsolicited Findings in Genetic Testing

Vyne van der Schoot, Eline van der Meer,Marij Hillen,Helger Yntema,Han Brunner,Anke Oerlemans

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 15-16

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Maternal Cell Contamination in Postnatal Umbilical Cord Blood Samples Implies a Low Risk for Genetic Misdiagnoses

Sanne P. Smeekens, Maike. Leferink,Helger G. Yntema,Erik-Jan Kamsteeg

PRENATAL DIAGNOSIS (2024)

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Clinical Exome Sequencing Data from Patients with Inborn Errors of Immunity: Cohort Level Diagnostic Yield and the Benefit of Systematic Reanalysis

Emil E Vorsteveld, Caspar I Van der Made,Sanne P Smeekens,Janneke H Schuurs-Hoeijmakers,Galuh Astuti, Heleen Diepstra,Christian Gilissen, Evelien Hoenselaar, Alice Janssen, Kees van Roozendaal,Jettie Sikkema-van Engelen,Wouter Steyaert,Marjan M Weiss,Helger G Yntema,Tuomo Mantere,Mofareh S AlZahrani,Koen van Aerde,Beata Derfalvi,Eissa Ali Faqeih,Stefanie S V Henriet, Elise van Hoof, Eman Idressi,Thomas B Issekutz,Marjolijn C J Jongmans, Riikka Keski-Filppula,Ingrid Krapels,Maroeska Te Loo, Catharina M Mulders-Manders,Jaap Ten Oever,Judith Potjewijd, Nora Tarig Sarhan, Marjan C Slot,Paulien A Terhal, Herman Thijs,Anthony Vandersteen,Els K Vanhoutte,Frank van de Veerdonk,Gijs van Well,Mihai G Netea, all members of the Radboud University Medical Center multidisciplinary immune-disease board,Annet Simons,Alexander Hoischen

Clinical immunology (Orlando, Fla) (2024): 110375-110375

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Long-Term Outcomes of Cochlear Implantation in Usher Syndrome

Mirthe L A Fehrmann,Cris P Lanting,Lonneke Haer-Wigman,Helger G Yntema, Emmanuel A M Mylanus, Wendy J Huinck, Ronald J E Pennings

Ear and hearingno. 6 (2024): 1542-1553

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Genome Sequencing As a Generic Diagnostic Strategy for Rare Disease

GENOME MEDICINEno. 1 (2024)

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