Resultats de la cerca - Gilissen, Christian

Novel bioinformatic developments for exome sequencing per Lelieveld, Stefan H., Veltman, Joris A., Gilissen, Christian

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Unlocking Mendelian disease using exome sequencing per Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A

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Disease gene identification strategies for exome sequencing per Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A

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Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics per Wiel, Laurens, Venselaar, Hanka, Veltman, Joris A., Vriend, Gert, Gilissen, Christian

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Accurate detection of clinically relevant uniparental disomy from exome sequencing data per Yauy, Kevin, de Leeuw, Nicole, Yntema, Helger G., Pfundt, Rolph, Gilissen, Christian

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Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression per Devanna, Paolo, van de Vorst, Maartje, Pfundt, Rolph, Gilissen, Christian, Vernes, Sonja C.

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MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains per Wiel, Laurens, Baakman, Coos, Gilissen, Daan, Veltman, Joris A., Vriend, Gerrit, Gilissen, Christian

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Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing per Alvarez-Mora, Maria Isabel, Corominas, Jordi, Gilissen, Christian, Sanchez, Aurora, Madrigal, Irene, Rodriguez-Revenga, Laia

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The heat shock response restricts virus infection in Drosophila per Merkling, Sarah H., Overheul, Gijs J., van Mierlo, Joël T., Arends, Daan, Gilissen, Christian, van Rij, Ronald P.

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Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cells per Tang, Leilei, Bergevoet, Saskia M, Gilissen, Christian, de Witte, Theo, Jansen, Joop H, van der Reijden, Bert A, Raymakers, Reinier AP

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Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy per Taylor, Peter J., Betts, Grant A., Maroulis, Sarah, Gilissen, Christian, Pedersen, Robyn L., Mowat, David R., Johnston, Heather M., Buckley, Michael F.

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Exome sequencing in patients with chronic central serous chorioretinopathy per Schellevis, Rosa L., Breukink, Myrte B., Gilissen, Christian, Boon, Camiel J. F., Hoyng, Carel B., de Jong, Eiko K., den Hollander, Anneke I.

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Apoptosis-Related Gene Expression Profiling in Hematopoietic Cell Fractions of MDS Patients per Langemeijer, Saskia MC, Mariani, Niccolo, Knops, Ruth, Gilissen, Christian, Woestenenk, Rob, de Witte, Theo, Huls, Gerwin, van der Reijden, Bert A, Jansen, Joop H

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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes per Lelieveld, Stefan H., Wiel, Laurens, Venselaar, Hanka, Pfundt, Rolph, Vriend, Gerrit, Veltman, Joris A., Brunner, Han G., Vissers, Lisenka E.L.M., Gilissen, Christian

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Deregulated Adhesion Program in Palatal Keratinocytes of Orofacial Cleft Patients per Mammadova, Aysel, Carels, Carine E.L., Zhou, Jie, Gilissen, Christian, Helmich, Maria P.A.C., Bian, Zhuan, Zhou, Huiqing, Von den Hoff, Johannes W.

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Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report per Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, Bjørndalen, Hilde J., Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik

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Syndromic X-linked intellectual disability segregating with a missense variant in RLIM per Tønne, Elin, Holdhus, Rita, Stansberg, Christine, Stray-Pedersen, Asbjørg, Petersen, Kjell, Brunner, Han G, Gilissen, Christian, Hoischen, Alexander, Prescott, Trine, Steen, Vidar M, Fiskerstrand, Torunn

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Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation per Hehir-Kwa, Jayne Y., Wieskamp, Nienke, Webber, Caleb, Pfundt, Rolph, Brunner, Han G., Gilissen, Christian, de Vries, Bert B. A., Ponting, Chris P., Veltman, Joris A.

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Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation per Acuna-Hidalgo, Rocio, Bo, Tan, Kwint, Michael P., van de Vorst, Maartje, Pinelli, Michele, Veltman, Joris A., Hoischen, Alexander, Vissers, Lisenka E.L.M., Gilissen, Christian

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Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life per Acuna-Hidalgo, Rocio, Sengul, Hilal, Steehouwer, Marloes, van de Vorst, Maartje, Vermeulen, Sita H., Kiemeney, Lambertus A.L.M., Veltman, Joris A., Gilissen, Christian, Hoischen, Alexander

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