Novel bioinformatic developments for exome sequencing

por Lelieveld, Stefan H., Veltman, Joris A., Gilissen, Christian
Publicado 2016

Unlocking Mendelian disease using exome sequencing

por Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A
Publicado 2011

Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics

por Wiel, Laurens, Venselaar, Hanka, Veltman, Joris A., Vriend, Gert, Gilissen, Christian
Publicado 2017

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

por Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Publicado 2015

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

por Yauy, Kevin, de Leeuw, Nicole, Yntema, Helger G., Pfundt, Rolph, Gilissen, Christian
Publicado 2019

Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression

por Devanna, Paolo, van de Vorst, Maartje, Pfundt, Rolph, Gilissen, Christian, Vernes, Sonja C.
Publicado 2018

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

por Wiel, Laurens, Baakman, Coos, Gilissen, Daan, Veltman, Joris A., Vriend, Gerrit, Gilissen, Christian
Publicado 2019

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing

por Alvarez-Mora, Maria Isabel, Corominas, Jordi, Gilissen, Christian, Sanchez, Aurora, Madrigal, Irene, Rodriguez-Revenga, Laia
Publicado 2021

The heat shock response restricts virus infection in Drosophila

por Merkling, Sarah H., Overheul, Gijs J., van Mierlo, Joël T., Arends, Daan, Gilissen, Christian, van Rij, Ronald P.
Publicado 2015

Clinical exome sequencing—Mistakes and caveats

por Corominas, Jordi, Smeekens, Sanne P., Nelen, Marcel R., Yntema, Helger G., Kamsteeg, Erik‐Jan, Pfundt, Rolph, Gilissen, Christian
Publicado 2022

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

por Chen, Xiao, Harting, John, Farrow, Emily, Thiffault, Isabelle, Kasperaviciute, Dalia, Hoischen, Alexander, Gilissen, Christian, Pastinen, Tomi, Eberle, Michael A.
Publicado 2023

Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cells

por Tang, Leilei, Bergevoet, Saskia M, Gilissen, Christian, de Witte, Theo, Jansen, Joop H, van der Reijden, Bert A, Raymakers, Reinier AP
Publicado 2010

Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy

por Taylor, Peter J., Betts, Grant A., Maroulis, Sarah, Gilissen, Christian, Pedersen, Robyn L., Mowat, David R., Johnston, Heather M., Buckley, Michael F.
Publicado 2010

Exome sequencing in patients with chronic central serous chorioretinopathy

por Schellevis, Rosa L., Breukink, Myrte B., Gilissen, Christian, Boon, Camiel J. F., Hoyng, Carel B., de Jong, Eiko K., den Hollander, Anneke I.
Publicado 2019

Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders

por Hoegen, Brechtje, Hampstead, Juliet E., Engelke, Udo F.H., Kulkarni, Purva, Wevers, Ron A., Brunner, Han G., Coene, Karlien L. M., Gilissen, Christian
Publicado 2022

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

por Wang, Tianyun, Kim, Chang N., Bakken, Trygve E., Gillentine, Madelyn A., Henning, Barbara, Mao, Yafei, Gilissen, Christian, Nowakowski, Tomasz J., Eichler, Evan E.
Publicado 2022

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

por Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian
Publicado 2023

Apoptosis-Related Gene Expression Profiling in Hematopoietic Cell Fractions of MDS Patients

por Langemeijer, Saskia MC, Mariani, Niccolo, Knops, Ruth, Gilissen, Christian, Woestenenk, Rob, de Witte, Theo, Huls, Gerwin, van der Reijden, Bert A, Jansen, Joop H
Publicado 2016

Deregulated Adhesion Program in Palatal Keratinocytes of Orofacial Cleft Patients

por Mammadova, Aysel, Carels, Carine E.L., Zhou, Jie, Gilissen, Christian, Helmich, Maria P.A.C., Bian, Zhuan, Zhou, Huiqing, Von den Hoff, Johannes W.
Publicado 2019

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

por Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, Bjørndalen, Hilde J., Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik
Publicado 2020