Marieke De Bruyne - Clinical Immunology Research Lab, Department of Pulmonary Medicine, Ghent University Hospital, Ghent, Belgium

基本信息

浏览量：1

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 41 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Expanding the Genetic Landscape of Usher Syndrome Type IV Caused by Pathogenic ARSG Variants

Miriam Bauwens, Vincent De Man,Isabelle Audo,Irina Balikova,Wadih M. Zein,Vasily Smirnov,Sebastian Held,Sascha Vermeer,Elke Loos,Julie Jacob,Ingele Casteels,Julie Desir,

Clinical Genetics (2024)

引用0浏览0WOS引用

Whole Genome Sequencing Delineates Novel Non-Coding Variants and Candidate Genes in Inherited Retinal Diseases

Marta del Pozo Valero,Miriam Bauwens,Marieke De Bruyne,Filip Van den Broeck, Stephanie Dulst, Quinten Mahieu,Audrey Meunier,Thomy de Ravel,Joke Ruys,Mattias Van Heetvelde,Alfredo Duenas Rey,Irina Balikova,

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 41-41

引用0浏览0引用

Combining a Prioritization Strategy and Functional Studies Nominates 5’UTR Variants Underlying Inherited Retinal Disease

Alfredo Dueñas Rey,Marta del Pozo Valero,Manon Bouckaert,Katherine A Wood,Filip Van den Broeck,Malena Daich Varela,Huw B Thomas,Mattias Van Heetvelde,Marieke De Bruyne,Stijn Van de Sompele,Miriam Bauwens, Hanne Lenaerts,

GENOME MEDICINEno. 1 (2024)

引用2浏览0WOS引用

ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency

Evi Duthoo,Elien Beyls,Lynn Backers,Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere, Sebastian Riemann,Bram Parton,Likun Du,Veronique Debacker,Marieke De Bruyne,Levi Hoste,

medrxiv（2024）

引用0浏览0引用

Diagnostic Yield of an Inherited Retinal Disease Gene Panel in Retinopathy of Unknown Origin

Stephane Abramowicz,Audrey Meunier,Laurence Postelmans,Laure Caspers,Francis Corazza,Marieke De Bruyne,Stijn van de Sompele,Elfride De Baere,Bart P. Leroy,Francois Willermain,Dafina Draganova

Retina (Philadelphia, Pa)no. 9 (2024): 1597-1607

引用0浏览0WOS引用

Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing

Miriam Bauwens,Kristof Van Schil,Marieke De Bruyne,Mattias Van Heetvelde,Quinten Mahieu,Toon Rosseel,Ebrahim Al Hajj, Sarah Van Malderen,Reza Maroofian,Fatemeh Suri,Elfride De Baere

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2023）

引用0浏览0引用

Copy number detection from exome sequencing data for patients with neurodevelopmental disorder: an effective approach

Erika D'haenens,Sarah Delbaere,Toon Rosseel,Marieke De Bruyne,Hannes Syryn,Bert Callewaert,Bjorn Menten,Annelies Dheedene

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 452-452

引用0浏览0引用

Cost-effective Sequence Analysis of 113 Genes in 1,192 Probands with Retinitis Pigmentosa and Leber Congenital Amaurosis

Daan M. Panneman,Rebekkah J. Hitti-Malin, Lara K. Holtes,Suzanne E. de Bruijn,Janine Reurink,Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andreasson, Elfride De Baere, Sandro Banfi,Miriam Bauwens,

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY（2023）

引用4浏览0引用

A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease

Alfredo Rey,Manon Bouckaert,Marta Valero,Marieke De Bruyne,Mattias Van Heetvelde,Jamie Ellingford,Gavin Arno,Andrew Webster,Carmen Ayuso,Carlo Rivolta,Bart Leroy,Miriam Bauwens,

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)

引用0浏览0引用

Compendium of clinical variant classification for 2,247 unique ABCA4 variants to improve genetic medicine access for Stargardt Disease

Stéphanie S. Cornelis,Miriam Bauwens,Lonneke Haer-Wigman,Marieke De Bruyne,Madhulatha Pantrangi,Elfride De Baere,Robert B. Hufnagel,Claire-Marie Dhaenens,Frans P.M. Cremers

medRxiv (Cold Spring Harbor Laboratory) (2023)

引用0浏览0引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn