Zobrazeno 1 - 10
of 60
pro vyhledávání: '"C Herkert"'
Autor:
Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
A genetic diagnosis remains unattainable for many individuals with a rare disease because of incomplete knowledge about the genetic basis of many diseases. Here, the authors present the web-based tool GADO (GeneNetwork Assisted Diagnostic Optimizatio
Externí odkaz:
https://doaj.org/article/8256eeb26c5746a9a9e8d6dcd1fd68ae
Publikováno v:
Annales françaises de médecine d’urgence. 13:115-121
La tamponnade cardiaque est une urgence vitale. Elle se définit comme une accumulation de liquide dans l’espace intrapéricardique, favorisant une augmentation de la pression intrapéricardique et une altération du remplissage cardiaque. Il s’a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c821f4979b10c0ff5a8739fc24b57ba6
https://doi.org/10.3166/afmu-2022-0482
https://doi.org/10.3166/afmu-2022-0482
Autor:
Sandra Brouwer, Ute Bültmann, Jochen Mierau, Johanna C Herkert, Katherine Mc Intyre, Pauline Lanting, Patrick Deelen, Henry H Wiersma, Anil P S Ori, Soesma A Jankipersadsing, Robert Warmerdam, Irene van Blokland, Floranne Boulogne, Marjolein X L Dijkema, Annique Claringbould, Olivier Bakker, Esteban A Lopera Maya, Sijmen A Reijneveld, Elianne Zijlstra, Morris A Swertz, Raun van Ooijen, Viola Angelini, Louise H Dekker, Anna Sijtsma, Sicco A Scherjon, Jackie A M Dekens, Lude Franke
Publikováno v:
BMJ Open, Vol 11, Iss 3 (2021)
Purpose The Lifelines COVID-19 cohort was set up to assess the psychological and societal impacts of the COVID-19 pandemic and investigate potential risk factors for COVID-19 within the Lifelines prospective population cohort.Participants Participant
Externí odkaz:
https://doaj.org/article/eea6f2f8ba31490abd6efec75d8d475a
Autor:
Irene V. van Blokland, Pauline Lanting, Anil P. S. Ori, Judith M. Vonk, Robert C. A. Warmerdam, Johanna C. Herkert, Floranne Boulogne, Annique Claringbould, Esteban A. Lopera-Maya, Meike Bartels, Jouke-Jan Hottenga, Andrea Ganna, Juha Karjalainen, Lifelines COVID-19 cohort study, The COVID-19 Host Genetics Initiative, Caroline Hayward, Chloe Fawns-Ritchie, Archie Campbell, David Porteous, Elizabeth T. Cirulli, Kelly M. Schiabor Barrett, Stephen Riffle, Alexandre Bolze, Simon White, Francisco Tanudjaja, Xueqing Wang, Jimmy M. Ramirez, Yan Wei Lim, James T. Lu, Nicole L. Washington, Eco J. C. de Geus, Patrick Deelen, H. Marike Boezen, Lude H. Franke
Publikováno v:
PLoS ONE, Vol 16, Iss 8 (2021)
Epidemiological and genetic studies on COVID-19 are currently hindered by inconsistent and limited testing policies to confirm SARS-CoV-2 infection. Recently, it was shown that it is possible to predict COVID-19 cases using cross-sectional self-repor
Externí odkaz:
https://doaj.org/article/48e7e653327e48aabd22b8438d85070f
Autor:
C Herkert, I De Lathauwer, M Van Leunen, R F Spee, P Balali, P F Migeotte, A Hossein, L Yuan, H M C Kemps
Publikováno v:
European Journal of Preventive Cardiology. 30
Funding Acknowledgements Type of funding sources: None. Aims To improve telemonitoring strategies in heart failure patients, there is a need for novel non-obtrusive sensors which monitor parameters closely related to intracardiac filling pressures. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e843ab1d79af6c81b9370c8a76e3459
https://doi.org/10.1093/eurjpc/zwad125.014
https://doi.org/10.1093/eurjpc/zwad125.014
Autor:
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L. Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Deniz Torun, Mutluay Arslan, Mathilde F. Lauridsen, Oliver Murch, Rachel Irving, Sally A. Lynch, Sarju G. Mehta, Jenny Carmichael, Evelien Zonneveld‐Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M. Johannesen, Ian T. Westphall, Susan S. Hughes, Sarah Smithson, Julie Evans, Tracy Dudding‐Byth, Marleen Simon, Ellen van Binsbergen, Johanna C. Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S. Møller, Guido Rubboli, Allan Bayat
Publikováno v:
Clinical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3bbe81845531971b838532baa46dff9c
https://doi.org/10.1111/cge.14353
https://doi.org/10.1111/cge.14353
Autor:
Julian Delanne, Magaly Lecat, Patrick R. Blackburn, Eric W. Klee, Constance T.R.M. Stumpel, Sander Stegmann, Servi J.C. Stevens, Caroline Nava, Delphine Heron, Boris Keren, Sonal Mahida, Sakkubai Naidu, Dusica Babovic-Vuksanovic, Johanna C. Herkert, Pernille M. Torring, Maria Kibæk, Isabelle De Bie, Rolph Pfundt, Yvonne M.C. Hendriks, Lilian Bomme Ousager, Renee Bend, Hannah Warren, Steven A. Skinner, Michael J. Lyons, Charlotte Pöe, Martin Chevarin, Thibaud Jouan, Aurore Garde, Quentin Thomas, Paul Kuentz, Emilie Tisserant, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
European Journal of Medical Genetics, 66(1):104670. Elsevier
Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the literature.Using exome sequencing (ES) and international data sharing, we identified 14 addi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::176d48fb12847e342ce4cacae5fc3460
https://doi.org/10.1016/j.ejmg.2022.104670
https://doi.org/10.1016/j.ejmg.2022.104670
Autor:
Marijke H. van der Meulen, Johanna C. Herkert, Susanna L. den Boer, Gideon J. du Marchie Sarvaas, Nico Blom, Arend D.J. ten Harkel, Hans M.P.J. Breur, Lukas A.J. Rammeloo, Ronald Tanke, Carlo Marcelis, Ingrid M.B.H. van de Laar, Judith M.A. Verhagen, Ronald H. Lekanne dit Deprez, Daniela Q.C.M. Barge-Schaapveld, Annette Baas, Arjan Sammani, Imke Christiaans, J. Peter van Tintelen, Michiel Dalinghaus
Publikováno v:
Circulation. Genomic and Precision Medicine, 15, 5, pp. 375-385
van der Meulen, M H, Herkert, J C, den Boer, S L, du Marchie Sarvaas, G J, Blom, N A, ten Harkel, A D J, Breur, H M P J, Rammeloo, L A J, Tanke, R B, Marcelis, C, van de Laar, I M B H, Verhagen, J M A, Lekanne Dit Deprez, R H, Barge-Schaapveld, D Q C M, Baas, A F, Sammani, A, Christiaans, I, van Tintelen, J P & Dalinghaus, M 2022, ' Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort : The Use of Genetic Testing in Risk Stratification ', Circulation: Genomic and Precision Medicine, vol. 15, no. 5, pp. 375-385 . https://doi.org/10.1161/CIRCGEN.120.002981
Circulation. Genomic and precision medicine, 15(5), 375-385. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and precision medicine, 15(5), 375-385. Lippincott Williams & Wilkins
Circulation. Genomic and precision medicine, 15(5):e002981. LIPPINCOTT WILLIAMS & WILKINS
Circulation: Genomic and Precision Medicine, 15(5), 375-385. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine, 15, 375-385
Circulation: Genomic and Precision Medicine, 15(5), 375-385. LIPPINCOTT WILLIAMS & WILKINS
van der Meulen, M H, Herkert, J C, den Boer, S L, du Marchie Sarvaas, G J, Blom, N A, ten Harkel, A D J, Breur, H M P J, Rammeloo, L A J, Tanke, R B, Marcelis, C, van de Laar, I M B H, Verhagen, J M A, Lekanne Dit Deprez, R H, Barge-Schaapveld, D Q C M, Baas, A F, Sammani, A, Christiaans, I, van Tintelen, J P & Dalinghaus, M 2022, ' Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort : The Use of Genetic Testing in Risk Stratification ', Circulation: Genomic and Precision Medicine, vol. 15, no. 5, pp. 375-385 . https://doi.org/10.1161/CIRCGEN.120.002981
Circulation. Genomic and precision medicine, 15(5), 375-385. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and precision medicine, 15(5), 375-385. Lippincott Williams & Wilkins
Circulation. Genomic and precision medicine, 15(5):e002981. LIPPINCOTT WILLIAMS & WILKINS
Circulation: Genomic and Precision Medicine, 15(5), 375-385. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine, 15, 375-385
Circulation: Genomic and Precision Medicine, 15(5), 375-385. LIPPINCOTT WILLIAMS & WILKINS
Background: This study aimed to describe the current practice and results of genetic evaluation in Dutch children with dilated cardiomyopathy and to evaluate genotype-phenotype correlations that may guide prognosis. Methods: We performed a multicente
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11895d031c96f5204b533f9051f00437
https://pubmed.ncbi.nlm.nih.gov/36178741
https://pubmed.ncbi.nlm.nih.gov/36178741
Autor:
Maria O. Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Phillip H. Iffland, Malin H.L. Andersson, Caleb Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, Perrine F. Kretz, Sarina G. Kant, Alexandra Neaverson, Esther Nibbeling, Christine Rowley, Emily Relton, Mark Sanderson, Ethan M. Scott, Helen Stewart, Andrew Y. Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J. Lelliott, Peter B. Crino, Binnaz Yalcin, Andrew Crosby, Emma L. Baple, Darren W. Logan, Matthew E. Hurles, Sebastian S. Gerety
KPTN-related disorder (KRD) is an autosomal recessive disorder associated with germline variants in KPTN (kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KRD, we analysed mouse knockout a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4cbb0278fd0279fd1689af80476ba3a
https://doi.org/10.1101/2022.07.15.500213
https://doi.org/10.1101/2022.07.15.500213
Autor:
Marjon van Slegtenhorst, Dean Phelan, Jan D. H. Jongbloed, Christine E. Seidman, Johanna C. Herkert, Francisco Fernández-Avilés, Chloe A Stutterd, Amy E. Roberts, Radhika Agarwal, Paul J. Lockhart, Mary Ella M Pierpont, Ingrid M.B.H. van de Laar, Irene M. van Langen, Ludolf G. Boven, Yolande van Bever, Raquel Yotti, Michael A. Burke, Jonathan G. Seidman, Paul A. James, Judith M.A. Verhagen, Kai'En E. Leong, David J. Amor, Elizabeth A. Braunlin, Ahmet Okay Ḉağlayan, Alireza Haghighi, Neal K. Lakdawala, Lennie van Osch-Gevers, Marian Bulthuis, Ivan Macciocca, Daniela Q.C.M. Barge-Schaapveld, Natasha J Brown, Erwin Birnie
Publikováno v:
American Heart Journal, 225, 108-119. MOSBY-ELSEVIER
American Heart Journal, 225, 108-119. Mosby Inc.
American Heart Journal, 225, 108-119. Mosby Inc.
Introduction: Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined. Methods and Results: We analyzed clinical manifestations of damaging bialleli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbaf369ded8d43f61c146566372d2716
https://doi.org/10.1016/j.ahj.2020.03.023
https://doi.org/10.1016/j.ahj.2020.03.023