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

Marieke De Bruyne

biomolecular medicine
H指数:16
被引数:1,068

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
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4和U6 snRNA基因的新生和遗传显性变异导致色素性视网膜炎

Nature Genetics
IF29
2026-01-090
OAAI
Mathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E. de Bruijn; Ana Belén Iglesias-Romero; Erica G. M. Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K. Holtes; Stephen H. Tsang; Zelia Corradi; K. Bailey Freund; Stefanida Shliaga; Daan M. Panneman; Rebekkah J. Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D. N. Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Tahsin Stefan Barakat; Mirella T. S. Barboni; Miriam Bauwens; Tamar Ben-Yosef; Virginie Bernard; David G. Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J. F. Boon; Kari Branham; Dominique Bremond-Gignac; Alexis Ceecee Britten-Jones; Kinga M. Bujakowska; Cyril Burin des Roziers; Elizabeth L. Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Naomi Chadderton; Peter Charbel Issa; Luísa Coutinho-Santos; Stephen P. Daiger; Elfride De Baere; Marieke De Bruyne; Berta de la Cerda; John N. De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L. Duncan; G. Jane Farrar; Nicolas Feltgen; Beau J. Fenner; Lidia Fernández-Caballero; Juliana M. Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C. Gardner; Christian Gilissen; Roser Gonzàlez-Duarte; Kensuke Goto; Sam Griffiths-Jones; Tobias B. Haack; Lonneke Haer-Wigman; Alison J. Hardcastle; Takaaki Hayashi; Elise Héon; Lies H. Hoefsloot; Alexander Hoischen; Josephine P. Holtan; Carel B. Hoyng; Manuel Benjamin B. Ibanez; Chris F. Inglehearn; Takeshi Iwata; Brynjar O. Jensson; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Caroline C. W. Klaver; Krisztina Knézy; Robert K. Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M. Lamey; Rina Leibu; Bart P. Leroy; Petra Liskova; Irma Lopez; Victor R. de J. López-Rodríguez; Quinten Mahieu; Omar A. Mahroo; Gaël Manes; Luke Mansard; M. Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Martin McKibbin; Terri L. McLaren; Isabelle Meunier; Michel Michaelides; José M. Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A. Pierce; Emily Place; Raj Ramesar; Francis Ramond; Florence Andrée Rasquin; Gillian I. Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Ederra; Ataf H. Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M. Santos; Margherita Scarpato; Hendrik P. N. Scholl; Dror Sharon; Sabrina G. Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Kari Stefansson; Katarina Stingl; Akiko Suga; Patrick Sulem; Lori S. Sullivan; Viktória Szabó; Jacek P. Szaflik; Gita Taurina; Alberta A. H. J. Thiadens; Carmel Toomes; Viet H. Tran; Miltiadis K. Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Sophie Valleix; Joseph van Aerschot; L. Ingeborgh van den Born; Mattias Van Heetvelde; Virginie J. M. Verhoeven; Andrea L. Vincent; Andrew R. Webster; Laura Whelan; Bernd Wissinger; Georgia G. Yioti; Kazutoshi Yoshitake; Juan C. Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I. Jacob; Siying Lin; Frans P. M. Cremers; Winston Lee; Jamie M. Ellingford; David Stanek; Susanne Roosing; Carlo Rivolta
Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies

探索与免疫性先天性错误和遗传性骨髓衰竭综合征相关的基因在儿童血液恶性肿瘤中的生殖系变异。

European Journal of Cancer
IF7.1
2025-07-050
PRE
Jette J. Bakhuizen; Freerk van Dijk; Sebastian B.B. Bon; Lars T. van der Veken; Manon M.H. Huibers; Joris M. van Montfrans; Marieke De Bruyne; Barbara De Moerloose; Filomeen Haerynck; Jan L.C. Loeffen; Tim Lammens; Roland P. Kuiper; Marjolijn C.J. Jongmans; Delfien J.A. Bogaert
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
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the hostderived RIG-I ligand RNA5SP141

GTF3A突变通过破坏宿主衍生的rig-i配体RNA5SP141的生物发生而易患单纯疱疹病毒性脑炎

SCIENCE IMMUNOLOGY
IF16.3
2022-11-2518
OA
Naesens, Leslie; Muppala, Santoshi; Acharya, Dhiraj; Nemegeer, Josephine; Bogaert, Delfien; Lee, Jung-Hyun; Staes, Katrien; Debacker, Veronique; De Bruyne, Marieke; De Bleser, Pieter; De Baere, Elfride; van Gent, Michiel; Liu, GuanQun; Lambrecht, Bart N.; Staal, Jens; Kerre, Tessa; Beyaert, Rudi; Maelfait, Jonathan; Tavernier, Simon J.; Gack, Michaela U.; Haerynck, Filomeen
Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19
FRONTIERS IN IMMUNOLOGY
IF5.9
2020-11-2045
OAAI
Van Damme, Karel F. A.; Tavernier, Simon; Van Roy, Nele; De Leeuw, Elisabeth; Declercq, Jozefien; Bosteels, Cedric; Maes, Bastiaan; De Bruyne, Marieke; Bogaert, Delfien; Bosteels, Victor; Hoste, Levi; Naesens, Leslie; Maes, Piet; Grifoni, Alba; Weiskopf, Daniela; Sette, Alessandro; Depuydt, Pieter; Van Braeckel, Eva; Haerynck, Filomeen; Lambrecht, Bart N.
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome (vol 217, e20191804, 2020)
JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2020-06-093
OAAI
Beziat, Vivien; Tavernier, Simon J.; Chen, Yin-Huai; Ma, Cindy S.; Materna, Marie; Laurence, Arian; Staal, Jens; Aschenbrenner, Dominik; Roels, Lisa; Worley, Lisa; Claes, Kathleen; Gartner, Lisa; Kohn, Lisa A.; Bruyne, Marieke De; Schmitz-Abe, Klaus; Charbonnier, Louis-Marie; Keles, Sevgi; Nammour, Justine; Vladikine, Natasha; Renkilaraj, Majistor Raj Luxman Maglorius; Seeleuthner, Yoann; Migaud, Melanie; Rosain, Jeremie; Jeljeli, Mohamed; Boisson, Bertrand; Van Braeckel, Eva; Rosenfeld, Jill A.; Dai, Hongzheng; Burrage, Lindsay C.; Murdock, David R.; Lambrecht, Bart N.; Avettand-Fenoel, Veronique; Vogel, Tiphanie P.; Network, Undiagnosed Diseases; Esther, Charles R., Jr.; Haskologlu, Sule; Dogu, Figen; Ciznar, Peter; Boutboul, David; Ouachee-Chardin, Marie; Amourette, Jean; Lebras, Marie-Noelle; Gauvain, Clement; Tcherakian, Colas; Ikinciogullari, Aydan; Beyaert, Rudi; Abel, Laurent; Milner, Joshua D.; Grimbacher, Bodo; Couderc, Louis-Jean; Butte, Manish J.; Freeman, Alexandra F.; Catherinot, Emilie; Fieschi, Claire; Chatila, Talal A.; Tangye, Stuart G.; Uhlig, Holm H.; Haerynck, Filomeen; Casanova, Jean-Laurent; Puel, Anne
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2020-03-2479
OAAI
Beziat, Vivien; Tavernier, Simon J.; Chen, Yin-Huai; Ma, Cindy S.; Materna, Marie; Laurence, Arian; Staal, Jens; Aschenbrenner, Dominik; Roels, Lisa; Worley, Lisa; Claes, Kathleen; Gartner, Lisa; Kohn, Lisa A.; De Bruyne, Marieke; Schmitz-Abe, Klaus; Charbonnier, Louis-Marie; Keles, Sevgi; Nammour, Justine; Vladikine, Natasha; Renkilaraj, Majistor Raj Luxman Maglorius; Seeleuthner, Yoann; Migaud, Melanie; Rosain, Jeremie; Jeljeli, Mohamed; Boisson, Bertrand; Van Braeckel, Eva; Rosenfeld, Jill A.; Dai, Hongzheng; Burrage, Lindsay C.; Murdock, David R.; Lambrecht, Bart N.; Avettand-Fenoel, Veronique; Vogel, Tiphanie P.; Esther, Charles R., Jr.; Haskologlu, Sule; Dogu, Figen; Ciznar, Peter; Boutboul, David; Ouachee-Chardin, Marie; Amourette, Jean; Lebras, Marie-Noelle; Gauvain, Clement; Tcherakian, Colas; Ikinciogullari, Aydan; Beyaert, Rudi; Abel, Laurent; Milner, Joshua D.; Grimbacher, Bodo; Couderc, Louis-Jean; Butte, Manish J.; Freeman, Alexandra F.; Catherinot, Emilie; Fieschi, Claire; Chatila, Talal A.; Tangye, Stuart G.; Uhlig, Holm H.; Haerynck, Filomeen; Casanova, Jean-Laurent; Puel, Anne
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation (vol 10, 4779 , 2019)
NATURE COMMUNICATIONS
IF15.7
2019-11-201
OAAI
Tavernier, S. J.; Athanasopoulos, V.; Verloo, P.; Behrens, G.; Staal, J.; Bogaert, D. J.; Naesens, L.; De Bruyne, M.; Van Gassen, S.; Parthoens, E.; Ellyard, J.; Cappello, J.; Morris, L. X.; Van Gorp, H.; Van Isterdael, G.; Saeys, Y.; Lamkanfi, M.; Schelstraete, P.; Dehoorne, J.; Bordon, V.; Van Coster, R.; Lambrecht, B. N.; Menten, B.; Beyaert, R.; Vinuesa, C. G.; Heissmeyer, V.; Dullaers, M.; Haerynck, F.
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

人类免疫失调综合征，其特征是具有纯合无义Roquin-1突变的严重过度炎症

NATURE COMMUNICATIONS
IF15.7
2019-10-2142
OAAI
Tavernier, S. J.; Athanasopoulos, V.; Verloo, P.; Behrens, G.; Staal, J.; Bogaert, D. J.; Naesens, L.; De Bruyne, M.; Van Gassen, S.; Parthoens, E.; Ellyard, J.; Cappello, J.; Morris, L. X.; Van Gorp, H.; Van Isterdael, G.; Saeys, Y.; Lamkanfi, M.; Schelstraete, P.; Dehoorne, J.; Bordon, V.; Van Coster, R.; Lambrecht, B. N.; Menten, B.; Beyaert, R.; Vinuesa, C. G.; Heissmeyer, V.; Dullaers, M.; Haerynck, F.
A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
2018-12-0110
OAAI
De Bruyne, Marieke; Bogaert, Delfien J.; Venken, Koen; Van den Bossche, Lien; Bonroy, Carolien; Roels, Lisa; Tavernier, Simon J.; van de Vijver, Els; Driessen, Ann; van Gijn, Marielle; Gamez-Diaz, Laura; Elewaut, Dirk; Grimbacher, Bodo; Haerynck, Filomeen; Moes, Nicolette; Dullaers, Melissa
A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation
FRONTIERS IN IMMUNOLOGY
IF5.9
2018-10-3136
OAAI
De Bruyne, Marieke; Hoste, Levi; Bogaert, Delfien J.; Van den Bossche, Lien; Tavernier, Simon J.; Parthoens, Eef; Migaud, Melanie; Konopnicki, Deborah; Yombi, Jean Cyr; Lambrecht, Bart N.; van Daele, Sabine; de Medeiros, Ana Karina Alves; Brochez, Lieve; Beyaert, Rudi; De Baere, Elfride; Puel, Anne; Casanova, Jean-Laurent; Goffard, Jean-Christophe; Savvides, Savvas N.; Haerynck, Filomeen; Staal, Jens; Dullaers, Melissa
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

研究方向

暂未获取到该数据
F
Filomeen Haerynck
H 指数:48论文数:258被引数:1.9万
E
Elfride De Baere
H 指数:60论文数:435被引数:1.2万
B
Bart N. Lambrecht
H 指数:123论文数:763被引数:6.3万
S
Simon J. Tavernier
H 指数:24论文数:88被引数:8,159
M
Mélissa Dullaers
H 指数:34论文数:98被引数:5,079
J
Jens Staal
H 指数:29论文数:88被引数:3,465
B
Beyaert, Rudi
H 指数:0论文数:1被引数:237
M
Miriam Bauwens
H 指数:18论文数:75被引数:1,254
L
Leslie Naesens
H 指数:15论文数:39被引数:3,275
B
Bart P. Leroy
H 指数:55论文数:380被引数:1.3万