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J

Judith M.A. Verhagen

Erasmus University Rotterdam
H指数:23
被引数:2,691

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Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

Nanopore长读长测序技术应用于危重患者，可促进超快速诊断和紧急临床决策制定。

European Journal of Human Genetics
IF4.6
2025-10-200
OA
Daphne J. Smits; Federico Ferraro; Mark Drost; Herma C. van der Linde; Bianca M. de Graaf; Yolande van Bever; Alice S. Brooks; Livija Bardina; Hennie T. Brüggenwirth; Christophe Debuy; Laura Donker Kaat; Bastiaan T. van Dijk; Nienke van Engelen; Geert Geeven; Raoul van de Graaf; Désirée Y. van Haaften-Visser; Peter M. van Hasselt; Daphne Heijsman; Yvonne M. C. Hendriks; Rebekkah J. Hitti-Malin; Lies H. Hoefsloot; Glenn Huijbregts; Hanna IJspeert; Sander Lamballais; Jona Mijalkovic; Merel O. Mol; Diënna Nawawi; Nadine Nederpelt; Esther A. R. Nibbeling; Wouter te Rijdt; Rachel Schot; Marjon van Slegtenhorst; Frank Sleutels; Eva L. M. Ulenkate; Monique Van Veghel – Plandsoen; Judith M. A. Verhagen; David Vos; Erwin Wauters; Martina Wilke; Marc Sylva; Tahsin Stefan Barakat; Tjakko J. van Ham; Tjitske Kleefstra; Dmitrijs Rots; Virginie J. M. Verhoeven
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

常规基于RNA的分析潜在剪接变异体，促进了基因组诊断，并揭示了基于计算机预测工具的局限性。

Human Genetics and Genomics Advances
IF3.6
2025-09-220
PREAI
Mark Drost; Jordy Dekker; Federico Ferraro; Esmee Kasteleijn; Marije Verschuren; Evelien Kroon; Hannie C.W. Douben; Inte Vogt; Leontine van Unen; Marianne Hoogeveen-Westerveld; Peter Elfferich; Rachel Schot; Camilla Calandrini; Esther Korpershoek; Frank Sleutels; Hennie B.R. Brüggenwirth; Iris R. Hollink; Lisette Meerstein-Kessel; Lies H. Hoefsloot; Marjon van Slegtenhorst; Martina Wilke; Marjolein J.A. Weerts; Rick van Minkelen; Anja Wagner; Arjan Bouman; Barbara W. van Paassen; Grazia M. Verheijen-Mancini; Ingrid M.B.H.van de Laar; J.A. Kievit; Judith M.A. Verhagen; Kyra E. Stuurman; Laura Donker Kaat; Marieke F. van Dooren; Marja W. Wessels; Rogier A. Oldenburg; Shimriet Zeidler; Tessa van Dijk; T.Stefan Barakat; Virginie J.M. Verhoeven; Yolande van Bever; Yvette van Ierland; Natalja Bannink; Silvana van Koningsbruggen; Phillis Lakeman; Lisette Leeuwen; Nienke E. Verbeek; Margje Sinnema; Malou Heijligers; Christi J. van Asperen; Jasper J. Saris; Mark Nellist; Tjakko J. van Ham
Effect of trimetazidine dihydrochloride therapy on myocardial external efficiency in pre-clinical individuals with a hypertrophic cardiomyopathy pathogenic variant: results of the ENERGY trial

曲美他嗪二盐酸盐治疗对携带肥厚型心肌病致病性变异的预临床个体心肌外效率的影响：ENERGY试验结果

CARDIOVASCULAR RESEARCH
IF13.3
2025-07-011
OAAI
van Driel, Beau Olivier; Schoonvelde, Stephan A. C.; Borodzicz-Jazdzyk, Sonia; Huurman, Roy; Visch, Julia; Robbers, Lourens; Harms, Hans; Verhagen, Judith; Vermeer, Alexa; van den Aardweg, Joost; van Rossum, Albert C.; Germans, Tjeerd; Michels, Michelle; van der Velden, Jolanda
Reply to: Family screening for hypertrophic cardiomyopathy: initial cardiologic assessment, and long-term follow-up of genotype-positive phenotype-negative individuals

回复：肥厚型心肌病的家族筛查：基因型阳性表型阴性个体的初始心脏学评估及长期随访

INTERNATIONAL JOURNAL OF CARDIOLOGY
IF3.2
2025-07-010
PRE
Georgios, Stephan A. C. Schoonvelde; Alexandridis, Georgios M.; Price, Laura B.; Schinkel, Arend F. L.; Hirsch, Alexander; Zwetsloot, Peter-Paul; Kammeraad, Janneke A. E.; van Slegtenhorst, Marjon A.; Verhagen, Judith M. A.; de Boer, Rudolf A.; Michels, Michelle
Loss of quality of life and increased societal costs in patients with hypertrophic cardiomyopathy: the AFFECT-HCM study
EUROPEAN HEART JOURNAL-QUALITY OF CARE AND CLINICAL OUTCOMES
IF4.6
2024-11-081
OAAI
Schoonvelde, Stephan A. C.; Wiethoff, Isabell; Zwetsloot, Peter-Paul; Hirsch, Alexander; Knackstedt, Christian; Germans, Tjeerd; Sikking, Maurits; Schinkel, Arend F. L.; van Slegtenhorst, Marjon A.; Verhagen, Judith M. A.; de Boer, Rudolf A.; Evers, Silvia M. A. A.; Hiligsmann, Mickael; Michels, Michelle
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort(vol24,Pg2112, 2022)
GENETICS IN MEDICINE
IF6.2
2024-02-010
OA
van den Bersselaar, Lisa M.; Verhagen, Judith M. A.; Bekkers, Jos A.; Kempers, Marlies; Houweling, Arjan C.; Baars, Marieke; Overwater, Eline; Hilhorst-Hofstee, Yvonne; Barge-Schaapveld, Daniela Q. C. M.; Rompen, Eline; Krapels, Ingrid P. C.; Dulfer, Eelco; Wessels, Marja W.; Loeys, Bart L.; Verhagen, Hence J. M.; Maugeri, Alessandra; Roos-Hesselink, Jolien W.; Bruggenwirth, Hennie T.; van de Laar, Ingrid M. B. H.
Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant

丝状蛋白C相关心肌病的表型变异性: 来自荷兰创始人的新变体的见解

HEART RHYTHM
IF5.7
2023-11-012
OAAI
Schoonvelde, Stephan A. C.; Ruijmbeek, Claudine W. B.; Hirsch, Alexander; van Slegtenhorst, Marjon A.; Wessels, Marja W.; von der Thusen, Jan H.; Baas, Annette F.; Stroeks, Sophie L. V. M.; Verdonschot, Job A. J.; van der Zwaag, Paul A.; Verhagen, Judith M. A.; Michels, Michelle
Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization
JCI INSIGHT
IF6.1
2023-09-082
OA
Ruijmbeek, Claudine W. B.; Housley, Filomena; Idrees, Hafiza; Housley, Michael P.; Pestel, Jenny; Keller, Leonie; Lai, Jason K. H.; Linde, Herma C. van der; Willemsen, Rob; Piesker, Janett; Al-Hassnan, Zuhair N.; Almesned, Abdulrahman; Dalinghaus, Michiel; van den Bersselaar, Lisa M.; van Slegtenhorst, Marjon A.; Tessadori, Federico; Bakkers, Jeroen; van Ham, Tjakko J.; Stainier, Didier Y. R.; Verhagen, Judith M. A.; Reischauer, Sven
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
GENETICS IN MEDICINE
IF6.2
2022-10-012
OA
van den Bersselaar, Lisa M.; Verhagen, Judith M. A.; Bekkers, Jos A.; Kempers, Marlies; Houweling, Arjan C.; Baars, Marieke; Overwater, Eline; Hilhorst-Hofstee, Yvonne; Barge-Schaapveld, Daniela Q. C. M.; Rompen, Eline; Krapels, Ingrid P. C.; Dulfer, Eelco; Wessels, Marja W.; Loeys, Bart L.; Verhagen, Hence J. M.; Maugeri, Alessandra; Roos-Hesselink, Jolien W.; Bruggenwirth, Hennie T.; Van De laar, Ingrid M. B. H.
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification
CIRCULATION-GENOMIC AND PRECISION MEDICINE
IF5.5
2022-09-3012
OAAI
van der Meulen, Marijke H.; Herkert, Johanna C.; den Boer, Susanna L.; Sarvaas, Gideon J. du Marchie; Blom, Nico A.; ten Harkel, Arend D. J.; Breur, Hans M. P. J.; Rammeloo, Lukas A. J.; Tanke, Ronald B.; Marcelis, Carlo; van de Laar, Ingrid M. B. H.; Verhagen, Judith M. A.; Deprez, Ronald H. Lekanne dit; Barge-Schaapveld, Daniela Q. C. M.; Baas, Annette F.; Sammani, Arjan; Christiaans, Imke; van Tintelen, J. Peter; Dalinghaus, Michiel
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
AMERICAN HEART JOURNAL
IF3.5
2020-07-0133
OAAI
Herkert, Johanna C.; Verhagen, Judith M. A.; Yotti, Raquel; Haghighi, Alireza; Phelan, Dean G.; James, Paul A.; Brown, Natasha J.; Stutterd, Chloe; Macciocca, Ivan; Leong, Kai'En; Bulthuis, Marian L. C.; van Bever, Yolande; van Slegtenhorst, Marjon A.; Boven, Ludolf G.; Roberts, Amy E.; Agarwal, Radhika; Seidman, Jonathan; Lakdawala, Neal K.; Fernandez-Aviles, Francisco; Burke, Michael A.; Pierpont, Mary Ella; Braunlin, Elizabeth; Caglayan, Ahmet Okay; Barge-Schaapveld, Daniela Q. C. M.; Birnie, Erwin; Van Osch-Gevers, Lennie; van Langen, Irene M.; Jongbloed, Jan D. H.; Lockhart, Paul J.; Amor, David J.; Seidman, Christine E.; van de Laar, Ingrid M. B. H.
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
JOURNAL OF MEDICAL GENETICS
IF3.7
2019-09-0721
OAAI
Almomani, Rowida; Herkert, Johanna C.; Posafalvi, Anna; Post, Jan G.; Boven, Ludolf G.; van der Zwaag, Paul A.; Willems, Peter H. G. M.; Van Veen-Hof, Ingrid H.; Verhagen, Judith M. A.; Wessels, Marja W.; Nikkels, Peter G. J.; Wintjes, Liesbeth T.; van den Berg, Maarten P.; Sinke, Richard J.; Rodenburg, Richard J.; Niezen-Koning, Klary E.; van Tintelen, J. Peter; Jongbloed, Jan D. H.
Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy
CIRCULATION-GENOMIC AND PRECISION MEDICINE
IF5.5
2019-09-0110
OAAI
Verhagen, Judith M. A.; van den Born, Myrthe; van der Linde, Herma C.; Nikkels, Peter G. J.; Verdijk, Rob M.; Kivlen, Maryann H.; van Unen, Leontine M. A.; Baas, Annette F.; ter Heide, Henriette; van Osch-Gevers, Lennie; Hoogeveen-Westerveld, Marianne; Herkert, Johanna C.; Bertoli-Avella, Aida M.; van Slegtenhorst, Marjon A.; Wessels, Marja W.; Verheijen, Frans W.; Hassel, David; Hofstra, Robert M. W.; Hegde, Ramanujan S.; van Hasselt, Peter M.; van Ham, Tjakko J.; van de Laar, Ingrid M. B. H.

研究方向

暂未获取到该数据
I
Ingrid M.B.H. van de Laar
H 指数:33论文数:119被引数:4,306
M
Marja W. Wessels
H 指数:37论文数:180被引数:6,556
M
Marjon A. van Slegtenhorst
H 指数:31论文数:143被引数:3,216
B
Bart Loeys
H 指数:82论文数:447被引数:3.2万
J
Jolien W. Roos‐Hesselink
H 指数:81论文数:673被引数:4.3万
M
Marlies Kempers
H 指数:41论文数:110被引数:6,320
A
Alexander Hirsch
H 指数:41论文数:323被引数:6,926
M
Michelle Michels
H 指数:50论文数:246被引数:9,144
S
Stephan A C Schoonvelde
H 指数:6论文数:26被引数:223
A
Aline Verstraeten
H 指数:28论文数:88被引数:2,704