de Koning Bart - Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+)

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Papers共 25 篇Author StatisticsCo-AuthorSimilar Experts

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Clinical-grade Whole Genome Sequencing-Based Haplarithmisis Enables All Forms of Preimplantation Genetic Testing

Anouk E. J. Janssen,Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk,Marion Drusedau,Jeroen Meekels,Burcu Yaldiz, Maartje van de Vorst,Bart de Koning, Debby M. E. I. Hellebrekers, Servi J. C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, Chris M. J. van Uum, Jelle Achten, Lars Hamers, Marjan Naghdi, Lisenka E. L. M. Vissers, Ron J. T. van Golde, Guido de Wert, Jos C. F. M. Dreesen,Christine de Die-Smulders,Edith Coonen,Han G. Brunner,Arthur van den Wijngaard,Aimee D. C. Paulussen,Masoud Zamani Esteki

NATURE COMMUNICATIONSno. 1 (2024)

Cited0Views0WOSNATUREBibtex

Clustering of Cardiac Transcriptome Profiles Reveals Unique Subgroups of Dilated Cardiomyopathy Patients

Job A. J. Verdonschot,Ping Wang,Kasper W. J. Derks,Michiel E. Adriaens,Sophie L. V. M. Stroeks,Michiel T. H. M. Henkens,Anne G. Raafs,Maurits Sikking,Bart de Koning,Arthur van den Wijngaard,Ingrid P. C. Krapels,Miranda Nabben,Han G. Brunner,Stephane R. B. Heymans

JACC-BASIC TO TRANSLATIONAL SCIENCEno. 4 (2023): 406-418

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Clustering of Cardiac Transcriptome Profiles Reveals Unique

Job A.J. Verdonschot,Ping Wang,Kasper W.J. Derks,Michiel E. Adriaens,Sophie L.V.M. Stroeks,Michiel T.H.M. Henkens,Anne G. Raafs,Maurits Sikking,Bart de Koning,Arthur van den Wijngaard,Ingrid P.C. Krapels,Miranda Nabben,Han G. Brunner,Stephane R.B. Heymans

JACC Basic to Translational Science（2023）

Cited0Views0Bibtex

Cost-effective Sequence Analysis of 113 Genes in 1,192 Probands with Retinitis Pigmentosa and Leber Congenital Amaurosis

Daan M. Panneman,Rebekkah J. Hitti-Malin, Lara K. Holtes,Suzanne E. de Bruijn,Janine Reurink,Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andreasson, Elfride De Baere, Sandro Banfi,Miriam Bauwens, Tamar Ben-Yosef,Beatrice Bocquet,Marieke De Bruyne,Berta de la Cerda,Frauke Coppieters,Pietro Farinelli,Thomas Guignard, Chris F. Inglehearn,Marianthi Karali,Ulrika Kjellstrom,Robert Koenekoop,Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier,Konstantinos Nikopoulos, Koji M. Nishiguchi,James A. Poulter,Carlo Rivolta,Enrique Rodriguez de la Rua, Patrick Saunders, Francesca Simonelli,Yasmin Tatour,Francesco Testa,Alberta A. H. J. Thiadens, Carmel Toomes,Anna M. Tracewska,Hoai Viet Tran,Hiroaki Ushida,Veronika Vaclavik,Virginie J. M. Verhoeven,Maartje van de Vorst,Christian Gilissen,Alexander Hoischen, Frans P. M. Cremers,Susanne Roosing

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY（2023）

Cited4Views0Bibtex

Cost-effective identification of causal variants in 113 genes underlying retinitis pigmentosa and Leber congenital amaurosis

Daan Panneman,Rebekkah J. Hitti-Malin,Erica G. M. Boonen, Lara K. Holtes,Mariana Guimaraes Ramos, Anna Maria Tracewska,Maartje van de Vorst,Bart de Koning,Christian Gilissen,Alexander Hoischen,Frans P. Cremers,Susanne Roosing

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2022）

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Single-molecule Molecular Inversion Probes allow cost-effective targeted sequencing of all genes and loci associated with macular diseases

Rebekkah J. Hitti-Malin,Susanne Roosing,Claire-Marie Dhaenens,Anneke I. Den Hollander,G. Jane Farrar,Daan Panneman,Erica G. M. Boonen,Laura de Rooij,Mariana Guimaraes Ramos,Maartje van de Vorst,Bart de Koning,Christian Gilissen,Alexander Hoischen,Frans P. Cremers

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2022）

Cited0Views0Bibtex

Diagnostic Exome-Based Preconception Carrier Testing in Consanguineous Couples: Results from the First 100 Couples in Clinical Practice

Suzanne C. E. H. Sallevelt,Alexander P. A. Stegmann,Bart de Koning, Crool Velter,Anja Steyls, Melanie van Esch,Phillis Lakeman,Helger Yntema,Masoud Zamani Esteki,Christine E. M. de Die-Smulders,Christian Gilissen,Arthur van den Wijngaard,Han G. Brunner,Aimée D. C. Paulussen

Genetics in Medicine（2021）

Cited19Views0WOSBibtex

Genetic Defects in Mtdna-Encoded Protein Translation Cause Pediatric, Mitochondrial Cardiomyopathy with Early-Onset Brain Disease

Rick Kamps,Radek Szklarczyk, Tom E. Theunissen,Debby M. E. I. Hellebrekers,Suzanne C. E. H. Sallevelt, Iris B. Boesten,Bart de Koning, Bianca J. van den Bosch, Gajja S. Salomons, Marisa Simas-Mendes, Rob Verdijk,Kees Schoonderwoerd,Irenaeus F. M. de Coo,Jo M. Vanoevelen,Hubert J. M. Smeets

European journal of human genetics（2018）

Cited22Views0WOSNATUREBibtex

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