Publications by authors named "Han Brunner"

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Sex Differences in Prognosis of Patients With Genetic Dilated Cardiomyopathy.
Sophie L V M Stroeks, Marco Merlo, Nerea Mora-Ayestaran, Max Jason, Upasana Tayal, Han G Brunner

Circ Heart Fail· November 2025

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Han G Brunner

Am J Hum Genet· November 2025

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Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.
Hila Fridman, Gelana Khazeeva, Ephrat Levy-Lahad, Christian Gilissen, Han G Brunner

Nat Hum Behav· August 2025

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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Han G Brunner

Nat Med· August 2025

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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Han G Brunner

Genome Res· April 2025

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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Han G Brunner

Nat Med· February 2025

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Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.
Gaby Schobers, Maartje Pennings, Juliette de Vries, Michael Kwint, Jeroen van Reeuwijk, Han G Brunner

Eur J Hum Genet· January 2025

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Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease.
Sophie L V M Stroeks, Michiel T H M Henkens, Fernando Dominguez, Marco Merlo, Debby M E I Hellebrekers, Han G Brunner

JACC Heart Fail· January 2025

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Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Anouk E J Janssen, Rebekka M Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Han G Brunner

Nat Commun· September 2024

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Han G Brunner

Am J Hum Genet· August 2024

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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Han G Brunner

Am J Hum Genet· August 2024

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Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
Sadegheh Haghshenas, Karim Karimi, Roger E Stevenson, Michael A Levy, Raissa Relator, Han Brunner

Am J Hum Genet· August 2024

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Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).
Kornelia Ellwanger, Julie A Brill, Elke de Boer, Stephanie Efthymiou, Ype Elgersma, Han Brunner

Lab Anim (NY)· July 2024

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Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Dmitrijs Rots, Kathleen Rooney, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Han G Brunner

Clin Genet· June 2024

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Generative artificial intelligence to produce high-fidelity blastocyst-stage embryo images.
Ping Cao, Josien Derhaag, Edith Coonen, Han Brunner, Ganesh Acharya

Hum Reprod· June 2024

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Genetic variants for head size share genes and pathways with cancer.
Maria J Knol, Raymond A Poot, Tavia E Evans, Claudia L Satizabal, Aniket Mishra, Han G Brunner

Cell Rep Med· May 2024

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Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Han G Brunner

medRxiv· May 2024

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Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Job A J Verdonschot, Debby M E I Hellebrekers, Vanessa P M van Empel, Malou Heijligers, Sonja de Munnik, Han G Brunner

Circ Genom Precis Med· April 2024

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Exploring uncertainties regarding unsolicited findings in genetic testing.
Vyne van der Schoot, Eline van der Meer, Marij A Hillen, Helger G Yntema, Han G Brunner

Patient Educ Couns· February 2024

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Genome sequencing as a generic diagnostic strategy for rare disease.
Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Han G Brunner

Genome Med· February 2024

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A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Erica L Harris, Vincent Roy, Martin Montagne, Ailsa M S Rose, Helen Livesey, Han G Brunner

Am J Hum Genet· January 2024

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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Abderrahim Marouane, Kornelia Neveling, A Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Han G Brunner

Front Genet· January 2024

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An interconnected data infrastructure to support large-scale rare disease research.
Lennart F Johansson, Steve Laurie, Dylan Spalding, Spencer Gibson, David Ruvolo, Han Brunner

Gigascience· January 2024

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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Rick Essers, Igor N Lebedev, Ants Kurg, Elizaveta A Fonova, Servi J C Stevens, Han G Brunner

Nat Med· December 2023

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Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Han Brunner

Nat Commun· October 2023

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