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K

Kathleen Freson

university of leuven
H指数:52
被引数:1.3万

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Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

出版商更正: RNU2-2中的双等位基因变体导致最普遍的隐性神经发育障碍

Nature Genetics
IF29
2026-04-230
OAAI
Daniel Greene; Rodrigo Mendez; Jon Lees; Mafalda Barbosa; Alessandro Bruselles; Luigi Chiriatti; Federico Ferraro; Cecilia Mancini; Rachel Schot; Frank Sleutels; Enrico Bertini; Devon E. Bonner; Arjan Bouman; Alice S. Brooks; T homas A. Cassini; Kimberly M. Ezell; Natalia Gomez-Ospina; Tjitske Kleefstra; Michael O’Donoghue; Lynette Rives; Vandana Shashi; Rebecca C. Spillmann; Mohamed Wafik; Kathleen Freson; Tahsin Stefan Barakat; Marco Tartaglia; Jonathan A. Bernstein; Andrew D. Mumford; Matthew T. Wheeler; Ernest Turro
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

RNU2-2中的双等位基因变体导致最普遍的隐性神经发育障碍

Nature Genetics
IF29
2026-03-300
OAAI
Daniel Greene; Rodrigo Mendez; Jon Lees; Mafalda Barbosa; Alessandro Bruselles; Luigi Chiriatti; Federico Ferraro; Cecilia Mancini; Rachel Schot; Frank Sleutels; Enrico Bertini; Devon E. Bonner; Arjan Bouman; Alice S. Brooks; Thomas A. Cassini; Kimberly M. Ezell; Natalia Gomez-Ospina; Tjitske Kleefstra; Michael O’Donoghue; Lynette Rives; Vandana Shashi; Rebecca C. Spillmann; Mohamed Wafik; Kathleen Freson; Tahsin Stefan Barakat; Marco Tartaglia; Jonathan A. Bernstein; Andrew D. Mumford; Matthew T. Wheeler; Ernest Turro
Prothrombotic PROC variant rebalancing haemostasis in severe haemophilia A with attenuated bleeding risk.

促血栓形成PROC变体通过再平衡止血，在严重血友病A中降低了出血风险。

Journal of Thrombosis and Haemostasis
IF5
2026-03-040
PRE
Radha Ramanan; Quentin Van Thillo; Renaud Lavend'homme; Christine Van Laer; Chantal Thys; Koenraad De Wispelaere; Sarissa Baert; Cyrielle Kint; Peter Verhamme; Thomas Vanassche; James D. McFadyen; Andrew C. Perkins; Huyen A. Tran; Veerle Labarque; Marc Jacquemin; Kathleen Freson
Human genetics implicate thromboembolism in the pathogenesis of long COVID in individuals of European ancestry

人类遗传学研究提示，在具有欧洲血统的个体中，血栓栓塞与长新冠的发病机制有关。

Nature Cardiovascular Research
IF10.8
2025-12-160
PRE
Art Schuermans; Andreas Verstraete; Vilma Lammi; Tomoko Nakanishi; Maddalena Ardissino; Jef Van den Eynde; Benjamin B. Sun; Marios K. Georgakis; Beatriz Guillen-Guio; Louise V. Wain; Christopher E. Brightling; Johan Van Weyenbergh; Adam J. Lewandowski; Betty Raman; Hugo Zeberg; Hanna M. Ollila; Stephen Burgess; Pradeep Natarajan; Michael C. Honigberg; Kathleen Freson; Thomas Vanassche; Peter Verhamme
Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism

自然抗凝剂缺陷的基因型与实验室表型相关性在静脉血栓栓塞症患者中的比较

Journal of Thrombosis and Haemostasis
IF5
2025-05-260
PRE
Christine Van Laer; Marthe Vanrenterghem; Marc Jacquemin; Andreas Verstraete; Sarissa Baert; Cyrielle Kint; Mirjam Kruijt; L. Renee Ruhaak; Veerle Labarque; Thomas Vanassche; Peter Verhamme; Kathelijne Peerlinck; Kathleen Freson
Illustrated capsules from the Advanced Course in Platelet Research
RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
IF3.4
2025-02-010
OAAI
Buduo, Christian Andrea Di; Abbonante, Vittorio; Malara, Alessandro; Balduini, Alessandra; Waller, Amie K.; Watson, Steve P.; Martin, Eleyna M.; Bridge, Lloyd; Gibbins, Jonathan; Hers, Ingeborg; Masson, Claire; Eckly, Anita; Poulter, Natalie S.; Martinez-Garcia, Beatriz; Aguila, Sonia; Gresele, Paolo; Momi, Stefania; Amstrong, Paul; Rondina, Matthew; Troitino, Sara; Garcia, Angel; Bastida, Jose M.; Quilez, Ana Marin; Fuentes, Ana Sanchez; Rivera, Jose; Torres-Ruiz, Raul; Ojeda-Walczuk, Paula; Morgan, Neil, V; de la Morena, Belen; Ramaekers, Kato; Tran, My; De Wispelaere, Koen; Freson, Kathleen; Bergmeier, Wolfgang; Greinacher, Andreas; He, Fan; Oh, Stephen; Di Paola, Jorge; Semple, John W.; Lozano, Maria L.; Llamas, Pilar; Ward, Chris
Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTH

全基因组转录组血小板隔离技术的前瞻性，国际，多站点比较: issh SSC的交流

JOURNAL OF THROMBOSIS AND HAEMOSTASIS
IF5
2024-10-011
OAAI
Banerjee, Meenakshi; Rowley, Jesse W.; Stubben, Chris J.; Tolley, Neal D.; Freson, Kathleen; Nelson, Benjamin; Nagy Jr, Bela; Fejes, Zsolt; Blair, Antoinette M.; Turro, Ernest; Gresele, Paolo; Taranta, Giulia Ciarrocca; Bury, Loredana; Falcinelli, Emanuela; Lordkipanidze, Marie; Alessi, Marie-Christine; Johnson, Andrew D.; Bakchoul, Tamam; Ramstrom, Sofia; Frontini, Mattia; Camera, Marina; Brambilla, Marta; Campbell, Robert A.; Rondina, Matthew T.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

SLC12A9的双等位基因功能丧失变体导致溶酶体功能障碍和综合征性神经发育障碍

GENETICS IN MEDICINE
IF6.2
2024-05-012
OAAI
Accogli, Andrea; Park, Young N.; Lenk, Guy M.; Severino, Mariasavina; Scala, Marcello; Denecke, Jonas; Hempel, Maja; Lessel, Davor; Kortuem, Fanny; Salpietro, Vincenzo; de Marco, Patrizia; Guerrisi, Sara; Torella, Annalaura; Nigro, Vincenzo; Srour, Myriam; Turro, Ernest; Labarque, Veerle; Freson, Kathleen; Piatelli, Gianluca; Capra, Valeria; Kitzman, Jacob O.; Meisler, Miriam H.

研究方向

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C
Chris Van Geet
H 指数:49论文数:298被引数:9,220
C
Chantal Thys
H 指数:33论文数:132被引数:4,480
B
Benedetta Izzi
H 指数:28论文数:107被引数:2,539
C
Christine Wittevrongel
H 指数:22论文数:72被引数:1,350
V
Veerle Labarque
H 指数:23论文数:148被引数:1,650
E
Ernest Turro
H 指数:46论文数:136被引数:9,031
W
Willem H. Ouwehand
H 指数:128论文数:563被引数:8.6万
K
Kate Downes
H 指数:48论文数:205被引数:1.7万
P
Paolo Gresele
H 指数:74论文数:504被引数:2.2万
J
José Rivera
H 指数:42论文数:257被引数:5,417