Han G. Brunner
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View article: O-205 Single-cell multi-omics to study genome plasticity in synthetic models of early human development
O-205 Single-cell multi-omics to study genome plasticity in synthetic models of early human development Open
Study question To investigate whether synthetic embryos (blastoids) derived from three different human stem-cell lines mimic human blastocyst molecular dynamics, including chromosome instability and cellular composition. Summary answer Alt…
View article: O-104 Determining the pre- and post-fertilization origins of aneuploidies: a new paradigm in assisted reproduction to substantially enhance embryo selection
O-104 Determining the pre- and post-fertilization origins of aneuploidies: a new paradigm in assisted reproduction to substantially enhance embryo selection Open
Study question To investigate the clinical utility of preimplantation genetic testing for aneuploidy origin (PGT-AO), which determines the meiotic/mitotic origin of aneuploidies and their level of mosaicism. Summary answer PGT-AO together …
View article: Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing Open
Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold coverage HiFi long-read sequencing (LRS) for detecting causativ…
View article: Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease
Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease Open
One in 6 DCM patients with an SID has an underlying P/LP variant in a DCM-associated gene. This highlights the role of genetic testing in those patients with immune-mediated DCM, and supports the concept that autoimmunity may play a role i…
View article: Reproductive and cognitive effects in carriers of recessive pathogenic variants
Reproductive and cognitive effects in carriers of recessive pathogenic variants Open
The genetic landscape of human Mendelian diseases is shaped by mutation and selection. Selection is mediated by phenotypic effects which interfere with health and reproductive success. Although selection on heterozygotes is well-establishe…
View article: Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing Open
High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in…
View article: Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing Open
Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilised 10-fold coverage HiFi long-read sequencing (LRS) for detecting causativ…
View article: Generative artificial intelligence to produce high-fidelity blastocyst-stage embryo images
Generative artificial intelligence to produce high-fidelity blastocyst-stage embryo images Open
STUDY QUESTION Can generative artificial intelligence (AI) models produce high-fidelity images of human blastocysts? SUMMARY ANSWER Generative AI models exhibit the capability to generate high-fidelity human blastocyst images, thereby prov…
View article: Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases Open
BACKGROUND: Preimplantation genetic testing (PGT) is a reproductive technology that selects embryos without (familial) genetic variants. PGT has been applied in inherited cardiac disease and is included in the latest American Heart Associa…
View article: Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global <scp>DNA</scp> methylation profile
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global <span>DNA</span> methylation profile Open
Precise regulation of gene expression is important for correct neurodevelopment. 9q34.3 deletions affecting the EHMT1 gene result in a syndromic neurodevelopmental disorder named Kleefstra syndrome. In contrast, duplications of the 9q34.3 …
View article: Genome sequencing as a generic diagnostic strategy for rare disease
Genome sequencing as a generic diagnostic strategy for rare disease Open
Background To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly increa…
View article: Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease Open
Introduction: Rapid exome sequencing (rES) has become the first-choice genetic test for critically ill patients, mostly neonates, young infants, or fetuses in prenatal care, in time-sensitive situations and when it is expected that the gen…
View article: An interconnected data infrastructure to support large-scale rare disease research
An interconnected data infrastructure to support large-scale rare disease research Open
The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing (“solving”) rare diseases (RDs). The project aims to significantly i…
View article: A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes Open
Cyclin D2 (CCND2) stabilization underpins a range of macrocephaly-associated disorders through mutation of CCND2 or activating mutations in upstream genes encoding PI3K-AKT pathway components. Here, we describe three individuals with overl…
View article: A unified data infrastructure to support large-scale rare disease research
A unified data infrastructure to support large-scale rare disease research Open
The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing (“solving”) rare diseases (RDs). The project aims to significantly i…
View article: Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing Open
High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in…
View article: Clonal hematopoiesis has prognostic value in dilated cardiomyopathy independent of age and clone size
Clonal hematopoiesis has prognostic value in dilated cardiomyopathy independent of age and clone size Open
Background Clonal hematopoiesis (CH) gives rise to mutated leukocyte clones, that may induce cardiovascular inflammation, and thereby impact the disease course in cardiovascular diseases such as atherosclerosis and ischemic heart failure. …
View article: Genome sequencing as a generic diagnostic strategy for rare disease
Genome sequencing as a generic diagnostic strategy for rare disease Open
Background To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly increa…
View article: An E280K Missense Variant in KCND3/Kv4.3—Case Report and Functional Characterization
An E280K Missense Variant in KCND3/Kv4.3—Case Report and Functional Characterization Open
A five-year-old girl presented with headache attacks, clumsiness, and a history of transient gait disturbances. She and her father, mother, twin sister, and brother underwent neurological evaluation, neuroimaging, and exome sequencing cove…
View article: Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency Open
Germline hemizygous loss-of-function mutations affecting the actin regulator DOCK11 were shown to cause a previously unknown inborn error of hematopoiesis and immunity characterized by severe immune dysregulation and systemic inflammation,…
View article: A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes. Open
Cyclin D2 (CCND2) stabilisation underpins a range of macrocephaly-associated disorders through mutation of CCND2, or activating mutations in upstream genes encoding PI3K-AKT pathway components. Here we describe three individuals with overl…
View article: Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity Open
The Swedish Research Council, The Swedish state under an agreement between the Swedish government and the county councils, the ALF (Avtal om Läkarutbildning och Forskning) agreement, The Swedish Heart-Lung Foundation, The Novo Nordisk Foun…