logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
M

Miriam Bauwens

Ghent University
H指数:18
被引数:1,254

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES

FOXL2编码和非编码序列及结构变异的最大汇编的变异筛选

Human Mutation
IF3.7
2026-05-060
OAAI
Charlotte Matton; Julie Van De Velde; Marieke De Bruyne; Stijn Van De Sompele; Sally Hooghe; Hannes Syryn; Miriam Bauwens; Eva D′haene; Annelies Dheedene; Martine Cools; Shoko Komatsuzaki; Ewelina Preizner-Rzucidło; Alison Ross; Christine Armstrong; Wendy Watkins; Andrew Shelling; Andrea L. Vincent; Catherine Cassiman; Sascha Vermeer; David J. Bunyan; Hannah Verdin; Elfride De Baere
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy

POC5基因的双等位基因失活突变可导致综合征性视网膜、内分泌和神经肌肉性纤毛病

Genetics in Medicine
IF6.2
2025-06-280
OAAI
Anneke T. Vulto-van Silfhout; Ingrid M. Jazet; Suzanne Yzer; Jeroen Pas; Serwet Demirdas; Elisabeth F.C. van Rossum; Alberta A.H.J. Thiadens; Ronald van Beek; Lonneke Haer-Wigman; Daniela Q.C.M. Barge-Schaapveld; Charlotte Brasch-Andersen; Simon Frost; Miriam Bauwens; Elfride De Baere; Irina Balikova; Filip Van den Broeck; Monika Weisz-Hubshman; Pascal Joset; Peter Miny; Isabel Filges; Susanne Kohl; Pietro De Angeli; Laura Kühlewein; Jan-Philipp Bodenbender; Tobias Haack; Karin Poths; Lidia Fernandez-Caballero; Marta Corton; Fiona Blanco Kelly; Carmen Ayuso; Peggy Martínez-Esteban; John Vissing; Jordi Díaz-Manera; Volker Straub; Ana Töpf; Siying Lin; Gavin Arno; William L. Macken; Jennifer Spillane; Radha Ramachandran; Erik de Vrieze; Tjakko van Ham; Susanne Roosing; Machteld M. Oud
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

揭示一个近亲婚配的伊朗队列中遗传性视网膜疾病的遗传结构

NPJ GENOMIC MEDICINE
IF4.8
2025-03-070
OA
Vincke, Lieselot; Van Schil, Kristof; Ahmadieh, Hamid; Moghaddasi, Afrooz; Sabbaghi, Hamideh; Daftarian, Narsis; Motevasseli, Tahmineh; Sheykhani, Leila Javanparast; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; De Zaeytijd, Julie; De Bruyne, Marieke; Mahieu, Quinten; Al-Hajj, Ebrahim; Del Pozo-Valero, Marta; Rosseel, Toon; Van Heetvelde, Mattias; Maroofian, Reza; Suri, Fatemeh; Bauwens, Miriam; De Baere, Elfride
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci
GENOME BIOLOGY
IF9.4
2024-05-170
OAAI
D'haene, Eva; Lopez-Soriano, Victor; Martinez-Garcia, Pedro Manuel; Kalayanamontri, Soraya; Rey, Alfredo Duenas; Sousa-Ortega, Ana; Naranjo, Silvia; Van de Sompele, Stijn; Vantomme, Lies; Mahieu, Quinten; Vergult, Sarah; Neto, Ana; Gomez-Skarmeta, Jose Luis; Martinez-Morales, Juan Ramon; Bauwens, Miriam; Tena, Juan Jesus; De Baere, Elfride
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-02-013
OAAI
Bauwens, Miriam; Celik, Elifnaz; Zur, Dinah; Lin, Siying; Quinodoz, Mathieu; Michaelides, Michel; Webster, Andrew R.; Van Den Broeck, Filip; Leroy, Bart P.; Rizel, Leah; Moye, Abigail R.; Meunier, Audrey; Tran, Hoai Viet; Moulin, Alexandre P.; Mahieu, Quinten; Van Heetvelde, Mattias; Arno, Gavi; Rivolta, Carlo; De Baere, Elfride; Ben-Yosef, Tamar
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2023-04-171
OAAI
Nuzhat, Nafisa; Van Schil, Kristof; Liakopoulos, Sandra; Bauwens, Miriam; Rey, Alfredo Duenas; Kaeseberg, Stephan; Jaeger, Melanie; Willer, Jason R.; Winter, Jennifer; Truong, Hanh M.; Gruartmoner, Nuria; Van Heetvelde, Mattias; Wolf, Joachim; Merget, Robert; Grasshoff-Derr, Sabine; Van Dorpe, Jo; Hoorens, Anne; Stoehr, Heidi; Mansard, Luke; Roux, Anne-Francoise; Langmann, Thomas; Dannhausen, Katharina; Rosenkranz, David; Wissing, Karl M.; Van Lint, Michel; Rossmann, Heidi; Haeuser, Friederike; Nuernberg, Peter; Thiele, Holger; Zechner, Ulrich; Pearring, Jillian N.; De Baere, Elfride; Bolz, Hanno J.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

通过整合基因组学和转录组学解决1054 Stargardt病先证者的ABCA4暗物质

GENETICS IN MEDICINE
IF6.2
2020-07-0197
OAAI
Khan, Mubeen; Cornelis, Stephanie S.; Del Pozo-Valero, Marta; Whelan, Laura; Runhart, Esmee H.; Mishra, Ketan; Bults, Femke; AlSwaiti, Yahya; AlTalbishi, Alaa; De Baere, Elfride; Banfi, Sandro; Banin, Eyal; Bauwens, Miriam; Ben-Yosef, Tamar; Boon, Camiel J. F.; van den Born, L. Ingeborgh; Defoort, Sabine; Devos, Aurore; Dockery, Adrian; Dudakova, Lubica; Fakin, Ana; Farrar, G. Jane; Sallum, Juliana Maria Ferraz; Fujinami, Kaoru; Gilissen, Christian; Glavac, Damjan; Gorin, Michael B.; Greenberg, Jacquie; Hayashi, Takaaki; Hettinga, Ymkje M.; Hoischen, Alexander; Hoyng, Carel B.; Hufendiek, Karsten; Jaegle, Herbert; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Kousal, Bohdan; Lamey, Tina M.; MacDonald, Ian M.; Matynia, Anna; McLaren, Terri L.; Mena, Marcela D.; Meunier, Isabelle; Miller, Rianne; Newman, Hadas; Ntozini, Buhle; Oldak, Monika; Pieterse, Marc; Podhajcer, Osvaldo L.; Puech, Bernard; Ramesar, Raj; Ruether, Klaus; Salameh, Manar; Salles, Mariana Vallim; Sharon, Dror; Simonelli, Francesca; Spital, Georg; Steehouwer, Marloes; Szaflik, Jacek P.; Thompson, Jennifer A.; Thuillier, Caroline; Tracewska, Anna M.; van Zweeden, Martine; Vincent, Andrea L.; Zanlonghi, Xavier; Liskova, Petra; Stoehr, Heidi; Roach, John N. De; Ayuso, Carmen; Roberts, Lisa; Weber, Bernhard H. F.; Dhaenens, Claire-Marie; Cremers, Frans P. M.
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copynumber variations (vol 20, pg 202, 2018)
GENETICS IN MEDICINE
IF6.2
2019-08-011
OAAI
Van Schil, Kristof; Naessens, Sarah; Van de Sompele, Stijn; Carron, Marjolein; Aslanidis, Alexander; Van Cauwenbergh, Caroline; Mayer, Anja K.; Van Heetvelde, Mattias; Bauwens, Miriam; Verdin, Hannah; Coppieters, Frauke; Greenberg, Michael E.; Yang, Marty G.; Karlstetter, Marcus; Langmann, Thomas; De Preter, Katleen; Kohl, Susanne; Cherry, Timothy J.; Leroy, Bart P.; De Baere, Elfride
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
GENETICS IN MEDICINE
IF6.2
2018-02-0148
OAAI
Van Schil, Kristof; Naessens, Sarah; Van de Sompele, Stijn; Carron, Marjolein; Aslanidis, Alexander; Van Cauwenbergh, Caroline; Mayer, Anja Kathrin; Van Heetvelde, Mattias; Bauwens, Miriam; Verdin, Hannah; Coppieters, Frauke; Greenberg, Michael E.; Yang, Marty G.; Karlstetter, Marcus; Langmann, Thomas; De Preter, Katleen; Kohl, Susanne; Cherry, Timothy J.; Leroy, Bart P.; De Baere, Elfride
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2016-08-0139
OAAI
Coppieters, Frauke; Ascari, Giulia; Dannhausen, Katharina; Nikopoulos, Konstantinos; Peelman, Frank; Karlstetter, Marcus; Xu, Mingchu; Brachet, Cecile; Meunier, Isabelle; Tsilimbaris, Miltiadis K.; Tsika, Chrysanthi; Blazaki, Styliani V.; Vergult, Sarah; Farinelli, Pietro; Van Laethem, Thalia; Bauwens, Miriam; De Bruyne, Marieke; Chen, Rui; Langmann, Thomas; Sui, Ruifang; Meire, Francoise; Rivolta, Carlo; Hamel, Christian P.; Leroy, Bart P.; De Baere, Elfride
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

与视网膜营养不良相关的早发性常染色体隐性小脑共济失调: 由纯合GRID2缺失引起的新人类hotfoot表型

GENETICS IN MEDICINE
IF6.2
2015-04-0133
OAAI
Van Schil, Kristof; Meire, Francoise; Karlstetter, Marcus; Bauwens, Miriam; Verdin, Hannah; Coppieters, Frauke; Scheiffert, Eva; Van Nechel, Christian; Langmann, Thomas; Deconinck, Nicolas; De Baere, Elfride
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2015-02-1225
PREAI
AlMoallem, Basamat; Bauwens, Miriam; Walraedt, Sophie; Delbeke, Patricia; De Zaeytijd, Julie; Kestelyn, Philippe; Meire, Francoise; Janssens, Sandra; van Cauwenbergh, Caroline; Verdin, Hannah; Hooghe, Sally; Thakur, Prasoon Kumar; Coppieters, Frauke; De Leeneer, Kim; Devriendt, Koenraad; Leroy, Bart P.; De Baere, Elfride

研究方向

暂未获取到该数据
E
Elfride De Baere
H 指数:60论文数:435被引数:1.2万
B
Bart P. Leroy
H 指数:55论文数:380被引数:1.3万
F
Frauke Coppieters
H 指数:25论文数:154被引数:3,451
K
Kristof Van Schil
H 指数:10论文数:43被引数:424
H
Hannah Verdin
H 指数:20论文数:81被引数:1,180
F
Françoise Meire
H 指数:39论文数:159被引数:4,313
J
Julie De Zaeytijd
H 指数:23论文数:141被引数:1,893
C
Caroline Van Cauwenbergh
H 指数:23论文数:63被引数:1,560
M
Marieke De Bruyne
H 指数:16论文数:82被引数:1,069
T
Thomas Langmann
H 指数:64论文数:291被引数:1.7万