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Author Details

Han G Brunner
Maastricht University Medical Centre
1987
521
110
PMIDPaper TitleJournal TitlePublished Year
37230314Left Atrial Function in Patients with Titin Cardiomyopathy.J Card Fail2024
37580113Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutations.J Med Genet2024
37976670Exploring uncertainties regarding unsolicited findings in genetic testing.Patient Educ Couns2024
37638520Clonal Hematopoiesis Has Prognostic Value in Dilated Cardiomyopathy Independent of Age and Clone Size.JACC Heart Fail2024
36114283The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.Eur J Hum Genet2023
37158973Comprehensive de novo mutation discovery with HiFi long-read sequencing.Genome Med2023
37342957Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.N Engl J Med2023
37209535Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.EBioMedicine2023
37138803Clustering of Cardiac Transcriptome Profiles Reveals Unique: Subgroups of Dilated Cardiomyopathy Patients.JACC Basic Transl Sci2023
36971006Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.Circ Genom Precis Med2023
37198425Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy.Eur J Hum Genet2023
37164047Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.Heart Rhythm2023
37196654The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Am J Hum Genet2023
37195288ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.Hum Mol Genet2023
36922714Autism spectrum disorder and brain volume link through a set of mTOR-related genes.J Child Psychol Psychiatry2023
36631531Allele-specific expression analysis for complex genetic phenotypes applied to a unique dilated cardiomyopathy cohort.Sci Rep2023
36563679De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.Am J Hum Genet2023
36366912Clinical geneticists' views on and experiences with unsolicited findings in next-generation sequencing: "A great technology creating new dilemmas".J Genet Couns2023
34697415Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.Eur J Hum Genet2022
35710456Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.Genome Med2022
35547246Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.Front Genet2022
35546254Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.J Inherit Metab Dis2022
35768464Methylome-wide analysis of IVF neonates that underwent embryo culture in different media revealed no significant differences.NPJ Genom Med2022
35543125Dynamic Ejection Fraction Trajectory in Patients With Dilated Cardiomyopathy With a Truncating Titin Variant.Circ Heart Fail2022
35346573Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.Genet Med2022
35344616Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.Hum Mutat2022
35567594Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.Genet Med2022
36408368A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.HGG Adv2022
36149256Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.Hum Reprod2022
36109106Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.J Am Coll Cardiol2022
36206092At age 9, the methylome of assisted reproductive technology children that underwent embryo culture in different media is not significantly different on a genome-wide scale.Hum Reprod2022
34918187DTYMK is essential for genome integrity and neuronal survival.Acta Neuropathol2022
35118823Improving diagnosis and risk stratification across the ejection fraction spectrum: the Maastricht Cardiomyopathy registry.ESC Heart Fail2022
34923109Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons.Neurobiol Dis2022
34671974The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.Clin Genet2022
33439542Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.Am J Med Genet A2021
33909990Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.Am J Hum Genet2021
33742171Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.Genet Med2021
33740458The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.Am J Hum Genet2021
33513338Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.Am J Hum Genet2021
33637888The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study.Eur J Hum Genet2021
33751940Comparison of human and rodent cell models to study myocardial lipid-induced insulin resistance.Prostaglandins Leukot Essent Fatty Acids2021
33928704The combination of carboxy-terminal propeptide of procollagen type I blood levels and late gadolinium enhancement at cardiac magnetic resonance provides additional prognostic information in idiopathic dilated cardiomyopathy - A multilevel assessment of myocardial fibrosis in dilated cardiomyopathy.Eur J Heart Fail2021
34562078Liquid biopsy: state of reproductive medicine and beyond.Hum Reprod2021
34247411Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.Dev Med Child Neurol2021
34241948Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome.Genes Brain Behav2021
34194005Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.Genet Med2021
33257779Long-read trio sequencing of individuals with unsolved intellectual disability.Eur J Hum Genet2021
33110267Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.Genet Med2021
33156912Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences.Eur Heart J2021
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Collaborators

Bert B A de Vries
Radboud University Medical Center
Co-authored papers 65
Christian Gilissen
Radboud University Medical Center
Co-authored papers 56
Hubert J M Smeets
Maastricht University Medical Centre+
Co-authored papers 30
Nicole de Leeuw
Radboud University Medical Center
Co-authored papers 28
David A Koolen
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 27
Stephane Heymans
Maastricht University Medical Centre
Co-authored papers 20
Anneke T Vulto-van Silfhout
Radboud University Medical Center
Co-authored papers 16
Jayne Y Hehir-Kwa
Princess Maxima Center for Pediatric Oncology
Co-authored papers 15
James R Lupski
Baylor College of Medicine
Co-authored papers 13
H??lya Kayserili
Istanbul University
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Tony Roscioli
Prince of Wales Hospital
Co-authored papers 11
Tim M Strom
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Evan E Eichler
University of Washington
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Hans J Grabe
Co-authored papers 9
Carel B Hoyng
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Andrew P Jackson
Institute of Genetics and Cancer, University of Edinburgh
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Alexander Teumer
University Medicine Greifswald
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Vidar M Steen
University of Oslo, Oslo University Hospital
Co-authored papers 7
Martijn A Huynen
Radboud University Medical Centre Nijmegen
Co-authored papers 7
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 7
William B Dobyns
University of Minnesota
Co-authored papers 7
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 6
Theo G M van Erp
University of California Irvine
Co-authored papers 6
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 6
Matthias Nauck
University Medicine Greifswald
Co-authored papers 6
Nicholas G Martin
Co-authored papers 6
Jan K Buitelaar
Radboud Universiteit
Co-authored papers 6
Nicholas Katsanis
Northwestern University
Co-authored papers 6
Dorret I Boomsma
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Lambertus A Kiemeney
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Release 1.2