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1Academic Journal
المؤلفون: de Boer, Eddy N, Vroom, Vincent, Scheper, Arjen J, Johansson, Lennart F, Bosscher, Laura, Rietema, Nettie, Commandeur-Jan, Sabrina Z, Knoers, Nine V A M, Sikkema-Raddatz, Birgit, van den Berg, Eva, van Diemen, Cleo C
المصدر: de Boer , E N , Vroom , V , Scheper , A J , Johansson , L F , Bosscher , L , Rietema , N , Commandeur-Jan , S Z , Knoers , N V A M , Sikkema-Raddatz , B , van den Berg , E & van Diemen , C C 2024 , ' Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics ' , Scientific Reports , vol. 14 , 8508 . https://doi.org/10.1038/s41598-024-59092-6
مصطلحات موضوعية: Humans, Reproducibility of Results, CRISPR-Cas Systems, Karyotyping, Leukemia, Chromosome Mapping
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Ghorbani, Fatemeh, de Boer, Eddy N, Fokkens, Michiel R, de Boer-Bergsma, Jelkje, Verschuuren-Bemelmans, Corien C, Wierenga, Elles, Kasaei, Hamidreza, Noordermeer, Daan, Verbeek, Dineke S, Westers, Helga, van Diemen, Cleo C
المصدر: Ghorbani , F , de Boer , E N , Fokkens , M R , de Boer-Bergsma , J , Verschuuren-Bemelmans , C C , Wierenga , E , Kasaei , H , Noordermeer , D , Verbeek , D S , Westers , H & van Diemen , C C 2024 , ' Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia ' , International Journal of Molecular Sciences , vol. 25 , no. 20 , 11205 . https://doi.org/10.3390/ijms252011205
مصطلحات موضوعية: Humans, DNA Copy Number Variations, Inositol 1,4,5-Trisphosphate Receptors/genetics, Enhancer Elements, Genetic/genetics, Ataxin-1/genetics, Spinocerebellar Ataxias/genetics, Ataxin-3/genetics, TATA-Box Binding Protein/genetics, Repressor Proteins/genetics, Cerebellum/metabolism, Male, Female, Middle Aged, Pilot Projects
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Ghorbani, Fatemeh, de Boer, Eddy N, Benjamins-Stok, Marloes, Verschuuren-Bemelmans, Corien C, Knapper, Jurjen, de Boer-Bergsma, Jelkje, de Vries, Jeroen J, Sikkema-Raddatz, Birgit, Verbeek, Dineke S, Westers, Helga, van Diemen, Cleo C
المصدر: Ghorbani , F , de Boer , E N , Benjamins-Stok , M , Verschuuren-Bemelmans , C C , Knapper , J , de Boer-Bergsma , J , de Vries , J J , Sikkema-Raddatz , B , Verbeek , D S , Westers , H & van Diemen , C C 2023 , ' Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia ' , Neurology: Genetics , vol. 9 , no. 1 , e200050 . https://doi.org/10.1212/NXG.0000000000200050
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Haisma, Sjoukje-Marije, Weersma, Rinse K., Joosse, Maria E., de Koning, Barbara A. E., de Meij, Tim, Koot, Bart G. P., Wolters, Victorien, Norbruis, Obbe, Daly, Mark J., Stevens, Christine, Xavier, Ramnik J., Koskela, Jukka, Rivas, Manuel A., Visschedijk, Marijn C., Verkade, Henkjan J., Barbieri, Ruggero, Jansen, Dianne B. H., Festen, Eleonora A. M., van Rheenen, Patrick F., van Diemen, Cleo C.
المساهمون: Institute for Molecular Medicine Finland, Complex Disease Genetics, Department of Medicine, University of Helsinki, Gastroenterologian yksikkö, HUS Abdominal Center, Helsinki University Hospital Area
مصطلحات موضوعية: genetic, inflammatory bowel disease, sclerosing cholangitis, General medicine, internal medicine and other clinical medicine, Genetics, developmental biology, physiology
وصف الملف: application/pdf
Relation: This work was supported by the European Crohn's and Colitis Organization (ECCO) [grant number Grant_2017/ECCO/PatrickvanRheenen].; Haisma , S-M , Weersma , R K , Joosse , M E , de Koning , B A E , de Meij , T , Koot , B G P , Wolters , V , Norbruis , O , Daly , M J , Stevens , C , Xavier , R J , Koskela , J , Rivas , M A , Visschedijk , M C , Verkade , H J , Barbieri , R , Jansen , D B H , Festen , E A M , van Rheenen , P F & van Diemen , C C 2021 , ' Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis ' , Liver International , vol. 41 , no. 5 , pp. 1044-1057 . https://doi.org/10.1111/liv.14831; ORCID: /0000-0002-0154-7222/work/108464033; http://hdl.handle.net/10138/340327; 5a02d1e9-cc45-42a5-a5dd-c36f2c7968a8; 000627507500001
الاتاحة: http://hdl.handle.net/10138/340327
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5Academic Journal
المؤلفون: Ghorbani, Fatemeh, de Boer-Bergsma, Jelkje, Verschuuren-Bemelmans, Corien C, Pennings, Maartje, de Boer, Eddy N, Kremer, Berry, Vanhoutte, Els K, de Vries, Jeroen J, van de Berg, Raymond, Kamsteeg, Erik-Jan, van Diemen, Cleo C, Westers, Helga, van de Warrenburg, Bart P, Verbeek, Dineke S
المصدر: Ghorbani , F , de Boer-Bergsma , J , Verschuuren-Bemelmans , C C , Pennings , M , de Boer , E N , Kremer , B , Vanhoutte , E K , de Vries , J J , van de Berg , R , Kamsteeg , E-J , van Diemen , C C , Westers , H , van de Warrenburg , B P & Verbeek , D S 2022 , ' Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia ' , Journal of Neurology , vol. 269 , pp. 6086–6093 ....
مصطلحات موضوعية: CANVAS, Adult-onset ataxia, Repeat expansion, RFC1, Optical genome mapping, COMMON-CAUSE
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/f344a88f-9835-4ca8-900f-6be558741579
https://research.rug.nl/en/publications/f344a88f-9835-4ca8-900f-6be558741579
https://doi.org/10.1007/s00415-022-11275-9
https://pure.rug.nl/ws/files/230620594/Prevalence_of_intronic_repeat_expansions_in_RFC1_in_Dutch_patients_with_CANVAS_and_adult_onset_ataxia.pdf -
6Academic Journal
المؤلفون: Ghorbani, Fatemeh, Alimohamed, Mohamed Z, Vilacha, Juliana F, Van Dijk, Krista K, De Boer-Bergsma, Jelkje, Fokkens, Michiel R, Lemmink, Henny, Sijmons, Rolf H, Sikkema-Raddatz, Birgit, Groves, Matthew R, Verschuuren-Bemelmans, Corien C, Verbeek, Dineke S, Van Diemen, Cleo C, Westers, Helga
المصدر: Ghorbani , F , Alimohamed , M Z , Vilacha , J F , Van Dijk , K K , De Boer-Bergsma , J , Fokkens , M R , Lemmink , H , Sijmons , R H , Sikkema-Raddatz , B , Groves , M R , Verschuuren-Bemelmans , C C , Verbeek , D S , Van Diemen , C C & Westers , H 2022 , ' Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance ' , Frontiers in Genetics , vol. 13 , 782685 . https://doi.org/10.3389/fgene.2022.782685
مصطلحات موضوعية: functional studies, gene panel, genetic diagnostics, protein modeling, segregation, spinocerebellar ataxia, variant of unknown significance
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/5e479db6-66c1-4848-9520-12924c4a7d85
https://research.rug.nl/en/publications/5e479db6-66c1-4848-9520-12924c4a7d85
https://doi.org/10.3389/fgene.2022.782685
https://pure.rug.nl/ws/files/213174277/fgene_13_782685.pdf
http://www.scopus.com/inward/record.url?scp=85128312776&partnerID=8YFLogxK -
7Academic Journal
المؤلفون: Biobank-based Integrative Omics Study Consortium, van der Plaat, Diana A, de Jong, Kim, de Vries, Maaike, van Diemen, Cleo C, Nedeljković, Ivana, Amin, Najaf, Kromhout, Hans, Vermeulen, Roel, Postma, Dirkje S, van Duijn, Cornelia M, Boezen, H Marike, Vonk, Judith M
المصدر: Occupational and Environmental Medicine, 2018 Jun 01. 75(6), 427-435.
URL الوصول: https://www.jstor.org/stable/26894308
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8
المؤلفون: Prokic, Ivana, Lahousse, Lies, de Vries, Maaike, Liu, Jun, Kalaoja, Marita, Vonk, Judith M., van der Plaat, Diana A., van Diemen, Cleo C., van der Spek, Ashley, Zhernakova, Alexandra, Fu, Jingyuan, Ghanbari, Mohsen, Ala-Korpela, Mika, Kettunen, Johannes, Havulinna, Aki S., Perola, Markus, Salomaa, Veikko, Lind, Lars, Arnlov, Johan, Stricker, Bruno H. C., Brusselle, Guy G., Boezen, H. Marike, van Duijn, Cornelia M., Amin, Najaf
المصدر: BMC Pulmonary Medicine. 20(1)
مصطلحات موضوعية: COPD, Metabolomics, Mendelian randomization, Glycoprotein acetyls, Biomarkers
وصف الملف: electronic
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9Academic Journal
المؤلفون: Haisma, Sjoukje-Marije, Weersma, Rinse K., Joosse, Maria E., de Koning, Barbara A. E., de Meij, Tim, Koot, Bart G. P., Wolters, Victorien, Norbruis, Obbe, Daly, Mark J., Stevens, Christine, Xavier, Ramnik J., Koskela, Jukka, Rivas, Manuel A., Visschedijk, Marijn C., Verkade, Henkjan J., Barbieri, Ruggero, Jansen, Dianne B. H., Festen, Eleonora A. M., van Rheenen, Patrick F., van Diemen, Cleo C.
المصدر: Haisma , S-M , Weersma , R K , Joosse , M E , de Koning , B A E , de Meij , T , Koot , B G P , Wolters , V , Norbruis , O , Daly , M J , Stevens , C , Xavier , R J , Koskela , J , Rivas , M A , Visschedijk , M C , Verkade , H J , Barbieri , R , Jansen , D B H , Festen , E A M , van Rheenen , P F & van Diemen , C ....
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10Academic Journal
المؤلفون: Haisma, Sjoukje Marije, Weersma, Rinse K., Joosse, Maria E., de Koning, Barbara A.E., de Meij, Tim, Koot, Bart G.P., Wolters, Victorien, Norbruis, Obbe, Daly, Mark J., Stevens, Christine, Xavier, Ramnik J., Koskela, Jukka, Rivas, Manuel A., Visschedijk, Marijn C., Verkade, Henkjan J., Barbieri, Ruggero, Jansen, Dianne B.H., Festen, Eleonora A.M., van Rheenen, Patrick F., van Diemen, Cleo C.
المساهمون: MDL, Child Health
مصطلحات موضوعية: Cholangitis, Sclerosing/genetics, Exome, Humans, Inflammatory Bowel Diseases/genetics, Parents, Whole Exome Sequencing, genetic, sclerosing cholangitis, inflammatory bowel disease, Research Support, Non-U.S. Gov't, Multicenter Study, Journal Article
وصف الملف: application/pdf
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11Academic Journal
المؤلفون: Imafidon, Miriam E., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Meems-Veldhuis, Martine T., Swertz, Morris A., van der Velde, K. Joeri, Beunders, Gea, Bos, Dennis K., Knoers, Nine V. A. M., Kerstjens-Frederikse, Wilhelmina S., van Diemen, Cleo C.
المصدر: Imafidon , M E , Sikkema-Raddatz , B , Abbott , K M , Meems-Veldhuis , M T , Swertz , M A , van der Velde , K J , Beunders , G , Bos , D K , Knoers , N V A M , Kerstjens-Frederikse , W S & van Diemen , C C 2021 , ' Strategies in Rapid Genetic Diagnostics of Critically Ill Children : Experiences From a Dutch University Hospital ' , Frontiers in Pediatrics , vol. 9 , 600556 . https://doi.org/10.3389/fped.2021.600556
مصطلحات موضوعية: neonatal intensive care (unit), next generation sequencing, genetic diagnostics, copy number variation, genetic disease, MEDICAL GENETICS, AMERICAN-COLLEGE, CLINICAL EXOME
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: de Boer, Eddy N., Vroom, Vincent, Scheper, Arjen J., Johansson, Lennart F., Bosscher, Laura, Rietema, Nettie, Commandeur-Jan, Sabrina Z., Knoers, Nine V. A. M., Sikkema-Raddatz, Birgit, van den Berg, Eva, van Diemen, Cleo C.
المصدر: Scientific Reports; 4/11/2024, Vol. 14 Issue 1, p1-9, 9p
مصطلحات موضوعية: GENE mapping, LEUKEMIA, JUDGMENT (Psychology), NUCLEOTIDE sequencing, GENOME editing
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13Academic Journal
المؤلفون: Li, Shuang, Van Der Velde, K.J., De Ridder, Dick, Van Dijk, Aalt D.J., Soudis, Dimitrios, Zwerwer, Leslie R., Deelen, Patrick, Hendriksen, Dennis, Charbon, Bart, Van Gijn, Marielle E., Abbott, Kristin, Sikkema-Raddatz, Birgit, Van Diemen, Cleo C., Kerstjens-Frederikse, Wilhelmina S., Sinke, Richard J., Swertz, Morris A.
المصدر: Genome Medicine 12 (2020) 1 ; ISSN: 1756-994X
مصطلحات موضوعية: Allele frequency, Clinical genetics, Exome sequencing, Genome diagnostics, Machine learning, Molecular consequence, Variant pathogenicity prediction
وصف الملف: application/pdf
Relation: https://edepot.wur.nl/531069
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14Academic Journal
المؤلفون: Aukema, Sietse M., ten Brinke, Gerdien A., Timens, Wim, Vos, Yvonne J., Accord, Ryan E., Kraft, Karianne E., Santing, Michiel J., Morssink, Leonard P., Streefland, Esther, van Diemen, Cleo C., Vrijlandt, Elianne J. L. E., Hulzebos, Christian, Kerstjens-Frederikse, Wilhelmina S.
المصدر: Aukema , S M , ten Brinke , G A , Timens , W , Vos , Y J , Accord , R E , Kraft , K E , Santing , M J , Morssink , L P , Streefland , E , van Diemen , C C , Vrijlandt , E J L E , Hulzebos , C & Kerstjens-Frederikse , W S 2020 , ' A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis ' , American Journal of Medical Genetics. Part A , vol. 182 , ....
مصطلحات موضوعية: BMP9, GDF2, hereditary hemorrhagic telangiectasia, lymphatic dysplasia, nonimmune hydrops fetalis, pulmonary arterial hypertension, PULMONARY INTERSTITIAL GLYCOGENOSIS, PROTEIN 9, KINASE 1, MUTATIONS, PHENOTYPE, TRISOMY-20, KNOWLEDGE, SPECTRUM, INSIGHTS
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/f6dac0af-8372-469e-80f9-c7c79a7fd79e
https://research.rug.nl/en/publications/f6dac0af-8372-469e-80f9-c7c79a7fd79e
https://doi.org/10.1002/ajmg.a.61743
https://pure.rug.nl/ws/files/129399560/A_homozygous_variant_in_growth_and_differentiation_factor_2_GDF2_may_cause_lymphatic_dysplasia_with_hydrothorax_and_nonimmune_hydrops_fetalis.pdf -
15Academic Journal
المؤلفون: de Vries, Maaike, van der Plaat, Diana A, Nedeljkovic, Ivana, van der Velde, K Joeri, Amin, Najaf, van Duijn, Cornelia M, Vonk, Judith M, Boezen, H Marike, van Diemen, Cleo C
المصدر: de Vries , M , van der Plaat , D A , Nedeljkovic , I , van der Velde , K J , Amin , N , van Duijn , C M , Vonk , J M , Boezen , H M & van Diemen , C C 2020 , ' Novel Rare Genetic Variants Associated with Airflow Obstruction in the General Population ' , American Journal of Respiratory and Critical Care Medicine , vol. 201 , no. 4 , pp. 485-488 . https://doi.org/10.1164/rccm.201909-1868LE
وصف الملف: application/pdf
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16Academic Journal
المؤلفون: de Boer, Eddy N, Johansson, Lennart F, de Lange, Kim, Bosga-Brouwer, Anneke G, van den Berg, Eva, Sikkema-Raddatz, Birgit, van Diemen, Cleo C
المصدر: de Boer , E N , Johansson , L F , de Lange , K , Bosga-Brouwer , A G , van den Berg , E , Sikkema-Raddatz , B & van Diemen , C C 2020 , ' Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing ' , Clinical Chemistry , vol. 66 , no. 8 , pp. 1084-1092 . https://doi.org/10.1093/clinchem/hvaa119
مصطلحات موضوعية: ACUTE MYELOID-LEUKEMIA, DIAGNOSTICS
وصف الملف: application/pdf
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17Academic Journal
المؤلفون: de Lange, Kim, de Boer, Eddy N, Bosga, Anneke, Alimohamed, Mohamed Z, Johansson, Lennart F, Mulder, André B, Vellenga, Edo, van Diemen, Cleo C, Deelen, Patrick, van den Berg, Eva, Sikkema-Raddatz, Birgit
المصدر: de Lange , K , de Boer , E N , Bosga , A , Alimohamed , M Z , Johansson , L F , Mulder , A B , Vellenga , E , van Diemen , C C , Deelen , P , van den Berg , E & Sikkema-Raddatz , B 2020 , ' Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING ' , Clinical Chemistry , vol. 66 , no. 12 , pp. 1521-1530 . https://doi.org/10.1093/clinchem/hvaa221
مصطلحات موضوعية: GENE FUSIONS, EXPRESSION, MUTATIONS, DATABASE, CANCER
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/ccb086fc-d903-4f17-ad2d-d84b056c7b44
https://research.rug.nl/en/publications/ccb086fc-d903-4f17-ad2d-d84b056c7b44
https://doi.org/10.1093/clinchem/hvaa221
https://pure.rug.nl/ws/files/154958209/Targeted_RNA_Sequencing_Enables_Detection_of_Relevant_Translocations_and_Single_Nucleotide_Variants_and_Provides_a_Method_for_Classification_of_Hematological_Malignancies_RANKING.pdf -
18Academic Journal
المؤلفون: Corsten‐Janssen, Nicole, Bouman, Katelijne, Diphoorn, Janouk C. D., Scheper, Arjen J., Kinds, Rianne, el Mecky, Julia, Breet, Hanna, Verheij, Joke B. G. M., Suijkerbuijk, Ron, Duin, Leonie K., Manten, Gwendolyn T. R., van Langen, Irene M., Sijmons, Rolf H., Sikkema‐Raddatz, Birgit, Westers, Helga, van Diemen, Cleo C.
المصدر: Prenatal Diagnosis ; volume 40, issue 10, page 1300-1309 ; ISSN 0197-3851 1097-0223
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19Academic Journal
المؤلفون: van der Velde, K. Joeri, van den Hoek, Sander, van Dijk, Freerk, Hendriksen, Dennis, van Diemen, Cleo C., Johansson, Lennart F., Abbott, Kristin M., Deelen, Patrick, Sikkema‐Raddatz, Birgit, Swertz, Morris A.
المساهمون: Nederlandse Organisatie voor Wetenschappelijk Onderzoek
المصدر: Advanced Genetics ; volume 1, issue 1 ; ISSN 2641-6573 2641-6573
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20
المؤلفون: Romanos, Jihane, Rosén, Anna, Kumar, Vinod, Trynka, Gosia, Franke, Lude, Szperl, Agata, Gutierrez-Achury, Javier, Van Diemen, Cleo C., Kanninga, Roan, Jankipersadsing, Soesma A., Steck, Andrea K, Eisenbarth, Georges, Van Heel, David A., Cukrowska, Bozena, Bruno, Valentina, Mazzilli, Maria Cristina, Núñez, Concepcion, Bilbao, Jose Ramon, Mearin, M. Luisa, Barisani, Donatella, Rewers, Marian, Norris, Jill M, Ivarsson, Anneli, Boezen, H. Marieke, Liu, Edwin, Wijmenga, Cisca, Carlsson, Annelie
المصدر: Gut. 63(3):415-422
مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Endokrinologi och diabetes, Medical and Health Sciences, Clinical Medicine, Endocrinology and Diabetes
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