Explanipedia

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing Open

Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve‐Codina , et al. · 2025

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…

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing Open

Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve‐Codina , et al. · 2024

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…

An interconnected data infrastructure to support large-scale rare disease research Open

Lennart Johansson, Steven Laurie, Dylan Spalding, Spencer Gibson, David Ruvolo , et al. · 2024

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…

Clonal hematopoiesis has prognostic value in dilated cardiomyopathy independent of age and clone size Open

Maurits A. Sikking, Sophie L.V.M. Stroeks, Michiel T.H.M. Henkens, Anne G. Raafs, B Cossin , et al. · 2023

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. …

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation Open

Wouter Steyaert, Lonneke Haer‐Wigman, Rolph Pfundt, Debby M.E.I. Hellebrekers, Marloes Steehouwer , et al. · 2023

Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity Open

Johanna C. Andersson‐Assarsson, Rosanne C. van Deuren, Felipe M. Kristensson, Marloes Steehouwer, Kajsa Sjöholm , et al. · 2023

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

Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead, Tom Hofste, Rolph Pfundt , et al. · 2023

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation Open

Wouter Steyaert, Lonneke Haer‐Wigman, Rolph Pfundt, Debby M.E.I. Hellebrekers, Marloes Steehouwer , et al. · 2022

We devised a new method (Chameleolyser) that accurately identifies single nucleotide variants (SNVs), copy number variants and ectopic gene conversion events in duplicated genomic regions using whole-exome sequencing (WES) data. Applicatio…

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint Open

Rebecca Schüle, Dagmar Timmann, Corrie E. Erasmus, Jennifer Reichbauer, Melanie Wayand , et al. · 2021

Clonal Hematopoiesis Is Associated With Low CD4 Nadir and Increased Residual HIV Transcriptional Activity in Virally Suppressed Individuals With HIV Open

Wouter A. van der Heijden, Rosanne C. van Deuren, Lisa Van de Wijer, Inge van den Munckhof, Marloes Steehouwer , et al. · 2021

Clonal hematopoiesis, a common age-related phenomenon marked by expansion of cells with clonal hematopoiesis driver mutations, has been associated with all-cause mortality, cancer, and cardiovascular disease. People with HIV (PWH) are at r…

Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Open

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik , et al. · 2021

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Open

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik , et al. · 2021

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientist…

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses Open

Rosanne C. van Deuren, Peer Arts, Giulio Cavalli, Martin Jaeger, Marloes Steehouwer , et al. · 2021

Solving unsolved rare neurological diseases—a Solve-RD viewpoint Open

Rebecca Schüle, Dagmar Timmann, Corrie E. Erasmus, Jennifer Reichbauer, Melanie Wayand , et al. · 2021

Rare genetic neurological disorders (RND; ORPHA:71859) are a heterogeneous group of disorders comprising >1700 distinct genetic disease entities. However, genetic discoveries have not yet translated into dramatic increases of diagnostic yi…

Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics Open

Paul Roepman, Ewart de Bruijn, Stef van Lieshout, Lieke Schoenmaker, Mirjam C. Boelens , et al. · 2021

Additional file 1 of Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses Open

Rosanne C. van Deuren, Peer Arts, Giulio Cavalli, Martin Jaeger, Marloes Steehouwer , et al. · 2021

Additional file 1: Supplementary Tables. Table S1. Variant grouping strategies of 48 Interleukin-1 pathway related genes. Table S2. Molecular Inversion Probes (MIPs) covering all coding exons of 48 genes of the Interleukin-1 pathway. Table…

Clinical validation of Whole Genome Sequencing for cancer diagnostics Open

Paul Roepman, Ewart de Bruijn, Stef van Lieshout, Lieke Schoenmaker, Mirjam C. Boelens , et al. · 2020

Whole genome sequencing (WGS) using fresh frozen tissue and matched blood samples from cancer patients is becoming in reach as the most complete genetic tumor test. With a trend towards the availability of small biopsies and the need to sc…

Presence of Genetic Variants Among Young Men With Severe COVID-19 Open

Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Guus van den Heuvel, Tuomo Mantere , et al. · 2020

In this case series of 4 young male patients with severe COVID-19, rare putative loss-of-function variants of X-chromosomal TLR7 were identified that were associated with impaired type I and II IFN responses. These preliminary findings pro…

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies Open

Romy van de Putte, Gabriel C. Dworschak, Erwin Brosens, Heiko Reutter, Carlo Marcelis , et al. · 2020

Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate…

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics Open

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart , et al. · 2020

Impact of rare and common genetic variation in the Interleukin-1 pathway on human cytokine responses Open

Rosanne C. van Deuren, Peer Arts, Giulio Cavalli, Martin Jaeger, Marloes Steehouwer , et al. · 2020

Background Interleukin(IL)-1 signaling is of major importance in human innate cytokine responses. Common variants in related genes have been linked to various inflammation-mediated diseases and stimulation-induced cytokine responses, but t…

Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics Open

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart , et al. · 2019

Missing heritability in human diseases represents a major challenge. Although whole-genome sequencing enables the analysis of coding and non-coding sequences, substantial costs and data storage requirements hamper its large-scale use to (r…

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations Open

Romy van de Putte, Charlotte H. W. Wijers, Heiko Reutter, Sita H. Vermeulen, Carlo Marcelis , et al. · 2019

Our results show that rare and low-frequency coding variants with large effect sizes, present on the exome chip do not contribute to ARM etiology.

Deletions and loss-of-function variants in TP63 associated with orofacial clefting Open

Kriti D. Khandelwal, Marie-José H. van den Boogaard, Sarah L. Mehrem, Jakob Gebel, Christina Fagerberg , et al. · 2019

P105 Identification of rare coding variants in IL-1-related pathways in patients with adult-onset still's disease Open

Giulio Cavalli, R. van Deuren, Peer Arts, Marloes Steehouwer, Paolo Sfriso , et al. · 2019

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease Open

Gaël Nicolas, Rocío Acuña‐Hidalgo, Michael J. Keogh, Olivier Quenez, Marloes Steehouwer , et al. · 2018

Introduction A minority of patients with sporadic early‐onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP PSEN1 , or PSEN2 . We hypothesized that negatively screened patients may…

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency Open

Sandra Jansen, Alexander Hoischen, Bradley P. Coe, Gemma L. Carvill, Hilde Van Esch , et al. · 2017

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life Open

Rocío Acuña‐Hidalgo, Hilal Sengül, Marloes Steehouwer, Maartje van de Vorst, Sita H. Vermeulen , et al. · 2017

Quantification of differential gene expression by multiplexed targeted resequencing of cDNA Open

Peer Arts, Jori van der Raadt, Sebastianus H. C. van Gestel, Marloes Steehouwer, Jay Shendure , et al. · 2017

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies Open

Rocío Acuña‐Hidalgo, Pelagia Derizioti, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham , et al. · 2017

Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp ho…

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