引用次数
引用: 26,452
H-指数: 84
I10-指数 : 193
出版物: 391
A de novo paradigm for male infertility
Nagirnaja L , Tüttelmann F , Kliesch S , Santibanez-Koref M
bioRxiv
2021
Clone expansion of mutation-driven clonal hematopoiesis is associated with aging and metabolic dysfunction in individuals with obesity
Peterse , Hoischen , Perkins , Carlsson
bioRxiv
2021
Deregulated Adhesion Program in Palatal Keratinocytes of Orofacial Cleft Patients.
Mammadova , Carels , Zhou , Gilissen
Genes 10 ( 11) 836
2019
De novo mutations in children born after medical assisted reproduction
RM Smits , MJ Xavier , MS Oud , GDN Astuti
Human Reproduction 37 ( 6) 1360 -1369
7
2022
DeNovoCNN: A deep learning approach to de novo variant calling in next generation sequencing data
Gelana Khazeeva , Karolis Sablauskas , PGH van der Sanden , WAR Steyaert
2024
Predicting protein-protein interactions in time-series of gene expression data
CFHA Gilissen
University Medical Center Nijmegen, Radboud University Nijmegen, Nijmegen
1
2006
Analysis of time-series gene expression data with dynamic Bayesian networks
CFHA Gilissen
Nijmegen: Radboud University Nijmegen
1
2005
Prenatal CNV detection by means of exome sequencing instead of microarray diagnostics: one test fits all!
D Westra , R Pfundt , SJC Stevens , I Feenstra
EUROPEAN JOURNAL OF HUMAN GENETICS 27 1625 -1626
2019
A search for embryonic effector molecules for a skin construct by exon array analysis of developing skin
PJE Uijtdewilligen , CFHA Gilissen , SV van Reijmersdal , WF Daamen
WOUND REPAIR AND REGENERATION 16 ( 6) A73 -A73
2008
Gene expression profiling of rheumatoid arthritis patients treated with anti-tumour necrosis factor
Marieke JH Coenen , Erik JM Toonen , Franak Batliwalla , Piet LCM van Riel
ARTHRITIS AND RHEUMATISM 58 ( 9) S615 -S616
2008
Rapid whole exome sequencing to identify the underlying genetic cause in fetuses with sonographic anomalies
I Feenstra , AC Deden , MI Nelen , K Neveling
EUROPEAN JOURNAL OF HUMAN GENETICS 27 1203 -1203
2019
Combined Exome Sequencing And Linkage Analysis Reveals A Dominant-negative ZNF408 Mutation Causing Familial Exudative Vitreoretinopathy
Alexander Hoischen , C Erik van Nouhuys , Konstantinos Nikopoulos , Carmel Toomes
Investigative Ophthalmology & Visual Science 53 ( 14) 2257 -2257
2012
Targeted Next Generation Sequencing As A Powerful Diagnostic Tool For RP
Kornelia Neveling , Rob W Collin , Christian Gilissen , Jeroen B Klevering
Investigative Ophthalmology & Visual Science 52 ( 14) 3319 -3319
2011
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome
Kornelia Neveling , Christian Gilissen , Muhammad Ajmal , Frans P M Cremers
Molecular Vision 19 644 -653
19
2013
Digenic inheritance of heterozygous RP1L1 and C2orf71 variants in syndromic retinitis pigmentosa
Anna M. Siemiatkowska , Christian Gilissen , Lisbeth Tranebjærg , Frans Cremers
Investigative Ophthalmology & Visual Science 56 ( 7) 2857 -2857
2015
Identification and functional characterization of de novo FOXP1 variants in cases of autism, intellectual disability and language impairment.
Pelagia Derizioti , Christian Gilissen , Han Brunner , Han Brunner
American Society for Human Genetics Annual Meeting
2015
Exome sequencing in dogs with progressive retinal atrophy to facilitate the development of therapeutic intervention studies
Alexander Hoischen , Knut Stieger , Christian Gilissen , Frans Cremers
Investigative Ophthalmology & Visual Science 54 ( 15) 3354 -3354
2013
Digging deeper in next generation sequencing data: Identification of functional non-coding variants that contribute to neurological disorders (an SLI case study)
Sonja C. Vernes , Christian Gilissen , Dianne Newbury , Simon E. Fisher
the Language in Interaction Summerschool on Human Language: From Genes and Brains to Behavior
2016
Novel mutations in Polish patients with hereditary retinal disorders
Alexander Hoischen , Krystyna Chrzanowska , Rafal Ploski , Marek Szalinski
Investigative Ophthalmology & Visual Science 59 ( 9) 2324 -2324
2018
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Joery Den Hoed , Elke de Boer , Norine Voisin , Alexander JM Dingemans
American Journal of Human Genetics 108 ( 2) 346 -356
1
2021