The following publications are the result of the successful cooperation of the Solve-RD partners and represent the breadth of the scientific expertise of the consortium.
Results
2024
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
An interconnected data infrastructure to support large-scale rare disease research.
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
J Neuromuscul Dis. 2024;11(3):647-653. doi: 10.3233/JND-230216.
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Genome sequencing as a generic diagnostic strategy for rare disease.
DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
2023
The 2024 version of the gene table of neuromuscular disorders (nuclear genome)
Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun.
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Maike F Dohrn, Danique Beijer [...] Stephan Zuchner.
Titin copy number variations associated with dominant inherited phenotypes
Aurélien Perrin, Corinne Métay, Marco Savarese, [...] Mireille Cossée.
J Med Genet. 2023 Dec 7:jmg-2023-109473. doi: 10.1136/jmg-2023-109473. Online ahead of print.
Term-BLAST-like alignment tool for concept recognition in noisy clinical texts
Tudor Groza, Honghan Wu, [...] Peter N Robinson.
Bioinformatics. 2023 Nov 24. doi: 10.1093/bioinformatics/btad716. Online ahead of print.
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
David Lagorce, Emeline Lebreton , [...] Ana Rath.
Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13
Neuromuscular disease genetics in under-represented populations: increasing data diversity
A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.
doi: 10.1016/j.xhgg.2023.100200. eCollection 2023 Jul 13.
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Annalaura Torella, Ivana Ricca [...] Alessandro Filla.
doi: 10.1007/s00415-023-11816-w. Epub 2023 Jul 7.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Alan P Tenney, Silvio Alessandro Di Gioia [...] Elizabeth C Engle.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Andreas Traschütz, Astrid D Adarmes-Gómez [...] Matthis Synofzik.
doi: 10.1002/ana.26712. Epub 2023 Jun 12.
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer.
Celina São José, José Garcia-Pelaez [...] Carla Oliveira.
doi: 10.1007/s10120-023-01395-0. Epub 2023 May 30.
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
David Pellerin, Carlo Wilke [...] Matthis Synofzik.
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.
Johanna C Andersson-Assarsson [...] Lena M S Carlsson.
doi: 10.1016/j.ebiom.2023.104621. Epub 2023 May 18.
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Erdi Kucuk, Bart P G H van der Sanden,[...] Christian Gilissen.
doi: 10.1186/s13073-023-01183-6.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
Elke Bogaert, Aurore Garde, Thierry Gautier, [...] Antonio Vitobello .
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Burcu Yaldiz, Erdi Kucu [...] Solve-RD consortium.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Anne-Sophie Denommé-Pichon, Leslie Matalonga,[...] Laurence Faivre .
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16.
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.
doi: 10.1016/j.xgen.2022.100246. eCollection 2023 Feb 8.
Small heat shock proteins operate as molecular chaperones in the mitochondrial intermembrane space.
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.
doi: 10.1212/NXG.0000000000200049. eCollection 2023 Apr.
Periventricular heterotopia in a male child with USP9X missense variant.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20.
The chaperone-assisted selective autophagy complex dynamics and dysfunctions
2022
Wnt genes in colonic polyposis predisposition
doi: 10.1016/j.gendis.2022.12.002. eCollection 2023 May.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16.
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14.
The 2023 version of the gene table of neuromuscular disorders (nuclear genome).
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21.
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Quentin Thomas, Marialetizia Motta [...] Antonio Vitobello.
Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome
Iris B A W Te Paske, Arjen R Mensenkamp [...] Richarda M De Voer.
doi: 10.1053/j.gastro.2022.08.041. Epub 2022 Aug 28.
GA4GH Phenopackets: A Practical Introduction.
Markus S Ladewig, Julius O B Jacobsen [...] Peter N Robinson.
doi: 10.1002/ggn2.202200016. eCollection 2023 Mar.
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19.
Caspar I van der Made, Mihai G Netea, Frank L van der Veerdonk, Alexander Hoischen.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Ferdinand Dhombres, Patricia Morgan [...] Peter N Robinson.
doi: 10.1002/ajmg.c.31989. Epub 2022 Jul 24.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Elke de Boer, Charlotte W Ockeloen [...] Tjitske Kleefstra.
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.
Gelana Khazeeva, Karolis Sablauskas [...] Christian Gilissen.
The GA4GH Phenopacket schema defines a computable representation of clinical data
Julius O B Jacobsen, Michael Baudis [...] Peter N Robinson.
doi: 10.1038/s41587-022-01357-4.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Steven Laurie, Davide Piscia [...] Sergi Beltran.
doi: 10.1002/humu.24353.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
Semra Hiz Kurul, Yavuz Oktay [...] Rita Horvath.
doi: 10.1093/brain/awab395.
Recommendations for whole genome sequencing in diagnostics for rare diseases
Erika Souche , Sergi Beltran [...] Marjan M Weiss .
doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16.
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom
Alessia Costa, Věra Franková , [...] Alison Metcalfe.
doi: 10.1007/s12687-022-00589-w. Epub 2022 May 6.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud [...] Clara D M van Karnebeek.
doi: 10.1002/jimd.12507. Epub 2022 May 22.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
Gemma Bullich, Leslie Matalonga, [...] Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.
doi: 10.1016/j.jmoldx.2022.02.003.
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
Jean-Loup Méreaux, Guillaume Banneau, [...] Giovanni Stevanin.
doi: 10.1093/brain/awab386.
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing
Daniel Danis, Julius O B Jacobsen[...] Peter N Robinson.
doi: 10.1186/s13073-022-01046-6.
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective
Thomas Klockgether, Tetsuo Ashizawa [...] JMatthis Synofzik.
doi: 10.1002/mds.29032. Epub 2022 Apr 27.
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
Danique Beijer, Maike F Dohrn [...] Jonathan Baets.
doi: 10.1111/ene.15310. Epub 2022 Mar 23.
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD
Anna K Sommer, Iris B A W Te Paske, [...] Stefan Aretz.
doi: 10.1016/j.ejmg.2022.104475. Epub 2022 Mar 11.
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis
Richelle A C M Olde Keizer, Abderrahim Marouane, [...] Lisenka E L M Vissers.
doi: 10.1016/j.ejmg.2022.104467. Epub 2022 Mar 1.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Liedewei Van de Vondel, Jonathan De Winter [...] Jonathan Baets.
doi: 10.1002/mds.28959. Epub 2022 Feb 12.
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4
Christoph Kessler, Lina Maria Serna-Higuita [...] Rebecca Schüle.
doi: 10.1002/acn3.51518. Epub 2022 Feb 16.
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
Matthew J Jennings, Alexia Kagiava [...] Rita Horvath.
doi: 10.1093/brain/awac055. Online ahead of print.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
Eppie M Yiu, Paula Bray [...] Joshua Burns.
doi: 10.1136/jnnp-2021-328483. Epub 2022 Feb 9.
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing
Ashraf Yahia, Ikhlas Ben Ayed, [...] Giovanni Stevanin.
doi: 10.1111/ahg.12460. Epub 2022 Feb 3.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
Daniel Natera-de Benito, Julie A Jurgens, [...] Francesco Muntoni.
doi: 10.1002/humu.24333. Epub 2022 Feb 3.
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
Annabelle Arlt, Nicolai Kohlschmidt [...] Semra Hiz.
doi: 10.1186/s13023-021-02068-w.
A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia
Jonathan De Winter, Liedewei Van de Vondel, Stephan Züchner, Els Ortibus, Jonathan Baets
doi: 10.1002/ana.26297. Epub 2022 Jan 20.
2021
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes
José Garcia-Pelaez, Rita Barbosa-Matos, [...] Carla Oliveira
doi: 10.1016/j.ejmg.2021.104401. Epub 2021 Dec 3.
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
Elke de Boer, Burcu Yaldiz, [...] Solve-RD SNV-indel working group
doi: 10.1016/j.ejmg.2021.104402. Epub 2021 Dec 1.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
James Fasham, Siying Lin [...] Emma L Baple
doi: 10.1016/j.gim.2021.10.014. Epub 2021 Nov 30.
Long-read trio sequencing of individuals with unsolved intellectual disability.
Marc Pauper, Erdi Kucuk, [...] Christian Gilissen
doi: 10.1038/s41431-020-00770-0. Epub 2020 Nov 30.
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders
Alexander J M Dingemans, Max Hinne [...] Bert B A de Vries
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study
Carlo Wilke, Selina Reich [...] Matthis Synofzik.
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
Andrea Gangfuß, Artur Czech [...] Andreas Roos
The European Genome-phenome Archive in 2021
Mallory Ann Freeberg, Lauren A Fromont, [...] Jordi Rambla.
doi: 10.1093/nar/gkab1059.
The 2022 version of the gene table of neuromuscular disorders (nuclear genome).
Enzo Cohen, Gisèle Bonne, François Rivier, Dalil Hamroun.
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.
May Yung Tiet1, Zhiyuan Lin, Fei Gao, Matthew James Jennings, Rita Horvath.
doi: 10.3233/JND-210715.
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
Daniel Danis, Julius O B Jacobsen [...] Peter N Robinson.
Economic evaluations of exome and genome sequencing in pediatric genetics: considerations towards a consensus strategy
Richelle A C M Olde Keizer, Lidewij Henneman [...] Gerardus W J Frederix.
doi: 10.1080/13696998.2021.2009725.
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals
Vyne van der Schoot, Lonneke Haer-Wigman [...] Helger G Yntema.
doi: 10.1038/s41431-021-00964-0. Epub 2021 Oct 25.
Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis
Fabiana Longo, Daniele De Ritis [...] Francesca Maltecca .
doi: 10.1212/WNL.0000000000012962. Epub 2021 Oct 14.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects
Alistair T Pagnamenta, Adam Jackson [...] Asaf Ta-Shma.
doi: 10.1111/cge.14071. Epub 2021 Oct 11.
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
Marco Savarese, Anna Vihola, [...] Bjarne Udd.
doi: 10.1212/NXG.0000000000000619. eCollection 2021 Oct.
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives
Matthis Synofzik, Willeke M C van Roon-Mom [...] Annemieke Aartsma-Rus.
doi: 10.1089/nat.2021.0039. Epub 2021 Sep 29.
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Alexander J M Dingemans, Kim M G Truijen [...] Lisenka E L M Vissers.
doi: 10.1038/s41431-021-00960-4. Epub 2021 Sep 15.
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents
Andrea Gangfuß, Hanns Lochmüller [...] Andreas Roos.
doi: 10.1002/ajmg.a.62494. Epub 2021 Sep 14.
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data
German Demidov, Joohyun Park [...] Stephan Ossowski.
doi: 10.1002/mgg3.1807. Epub 2021 Sep 7.
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing
Rita Barbosa-Matos, Rafaela Leal Silva, [...] Carla Oliveira .
doi: 10.3390/cancers13174464.
Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response
Danique Beijer, Thomas Agnew [...] Jonathan Baets.
doi: 10.26508/lsa.202101057. Print 2021 Nov.
Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study
A Marouane, R A C M Olde Keizer [...] W A G van Zelst-Stams.
doi: 10.1007/s00431-021-04213-w. Epub 2021 Aug 4.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko [...] Tahsin Stefan Barakat
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
Danique Beijer, Hong Joo Kim [...] Jonathan Baets
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability
Gemma L Carvill, Sandra Jansen [...] Heather C Mefford.
doi: 10.1111/dmcn.14989. Epub 2021 Jul 11.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Maria Iqbal, Reza Maroofian [...] Gökhan Yigit.
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
Andreas Traschütz, Selina Reich, [...] Matthis Synofzik.
doi: 10.3389/fneur.2021.677551. eCollection 2021.
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
Adriana P Rebelo, Ilse Eidhof, [...] PREPARE network.
doi: 10.1093/brain/awab071.
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction
doi: 10.1093/brain/awab226.
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families
doi: 10.1111/ahg.12437. Epub 2021 Jun 10.
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype
doi: 10.1002/ajmg.a.62370. Epub 2021 Jun 1.
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1.
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
doi: 10.1038/s41431-021-00900-2. Epub 2021 Jun 1.
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
doi: 10.1038/s41431-021-00853-6. Epub 2021 Jun 1.
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
doi: 10.1038/s41431-021-00851-8. Epub 2021 Jun 1.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
Holger Hengel, Shabab B Hannan [...] Ludger Schöls.
doi: 10.1016/j.ajhg.2021.04.024. Epub 2021 May 21.
Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease
Evgeniia Prokhorova, Thomas Agnew [...] Ivan Ahel.
doi: 10.1016/j.molcel.2021.04.028. Epub 2021 May 20.
High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients
Willem De Ridder, Peter De Jonghe, Volker Straub, Jonathan Baets.
doi: 10.1016/j.nmd.2021.04.010. Epub 2021 May 14.
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
Antonio Atalaia, Rabah Ben Yaou [...] Gisèle Bonne.
The Treatabolome, an emerging concept.
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
A Manta, S Spendiff, H Lochmüller, R Thompson.
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.
Matthew J Jennings, Angela Lochmüller, Antonio Atalaia, Rita Horvath.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Mridul Johari, Jaakko Sarparanta, [...] Bjarne Udd.
doi: 10.1007/s00401-021-02319-x. Epub 2021 May 11.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian [...] Jan Senderek.
doi: 10.1093/brain/awab041.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint
Rebecca Schüle, Dagmar Timmann [...] Solve-RD Consortium.
doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10.
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation
Miriam Zacchia, Francesca Del Vecchio Blanco, [...] Giovambattista Capasso.
doi: 10.1007/s40620-021-01048-4. Epub 2021 May 8.
Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable
doi: 10.1111/epi.16908. Epub 2021 May 5.
Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges
doi: 10.1002/1878-0261.12948. Epub 2021 May 2.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Dmitrijs Rots, Eric Chater-Diehl [...] Rosanna Weksberg.
doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27.
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
Bart P G H van der Sanden, Jordi Corominas [...] Christian Gilissen
doi: 10.1038/s41436-021-01174-1. Epub 2021 Apr 12.
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype
David Mengel, Andreas Traschütz [...] Matthis Synofzik
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder
Tanja Schmitz-Hübsch, Silke Lux [...] Martina Minnerop
doi: 10.1002/acn3.51315. Epub 2021 Mar 19.
A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteins
T Reid Alderson, Elias Adriaenssens [...] Justin Lp Benesch
doi: 10.15252/embj.2019103811. Epub 2021 Mar 1.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
Geeske M van Woerden, Melanie Bos [...] Tjitske Kleefstra
doi: 10.1002/humu.24176. Epub 2021 Mar 1.
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome
Alexander J M Dingemans, Diante E Stremmelaar [...] Bert B A de Vries
doi: 10.1038/s41431-021-00824-x. Epub 2021 Feb 18.
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
Rita Selvatici, Rachele Rossi [...] Alessandra Ferlini
doi: 10.1212/NXG.0000000000000536. eCollection 2021 Feb.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28.
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
Andreas Traschütz, Andrea Cortese [...] Matthis Synofzik.
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement
Maria Elena Onore, Annalaura Torella, [...] Vincenzo Nigro.
doi: 10.3390/genes12020133.
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information
Alexander J M Dingemans, Diante E Stremmelaar, [...] Bert B A de Vries.
doi: 10.1002/ajmg.a.62057. Epub 2021 Jan 13.
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
Maria S Falzarano, Andrea Grilli, [...] Alessandra Ferlini .
doi: 10.1016/j.xhgg.2021.100054. eCollection 2022 Jan 13.
The Human Phenotype Ontology in 2021
Sebastian Köhler, Michael Gargano [...] Peter N Robinson.
doi: 10.1093/nar/gkaa1043.
2020
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients
Miriam Zacchia, Francesca Del Vecchio Blanco, [...] Davide Viggiano.
doi: 10.1093/ckj/sfaa182. eCollection 2021 Jun.
Long-read trio sequencing of individuals with unsolved intellectual disability.
Marc Pauper, Erdi Kucuk [...] Christian Gilissen.
Eur J Hum Genet. 2021 Apr;29(4):637-648. doi: 10.1038/s41431-020-00770-0. Epub 2020 Nov 30.
PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway
Jonathan De Winter, Danique Beijer [...] Jonathan Baets.
Brain. 2021 Mar 3;144(2):e17.
doi: 10.1093/brain/awaa389.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Sandra Donkervoort, Carl E Kutzner [...] Carsten G Bönnemann.
Am J Hum Genet. 2020 Dec 3;107(6):1078-1095.
doi: 10.1016/j.ajhg.2020.11.002. Epub 2020 Nov 19.
The 2021 version of the gene table of neuromuscular disorders (nuclear genome).
Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Neuromuscul Disord. 2020 Dec;30(12):1008-1048. doi: 10.1016/j.nmd.2020.11.009. Epub 2020 Nov 22.
Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.
Iris Paske, Marjolijn Ligtenberg, Nicoline Hoogerbrugge, Richarda de Voer
doi: 10.3390/ijms21228757.
RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation
Jean-Madeleine de Sainte Agathe, Sandra Mercier, [...] Giovanni Stévanin
Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1.
Maike Nagel, Sandra Müßig, Philip Höflinger, Ludger Schöls, Stefan Hauser, Rebecca Schüle
doi: 10.1016/j.scr.2020.102059. Epub 2020 Oct 29.
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.
Liena E O Elsayed, Inaam N Mohammed, [...] Giovanni Stevanin
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14.
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
Annalaura Torella, Mariateresa Zanobio, [...] Vincenzo Nigro
doi: 10.1371/journal.pone.0237803. eCollection 2020.
Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.
Andre Altmann, David M Cash, Martina Bocchetta, [...] Mina Ryten, Jonathan D Rohrer and Genetic FTD Initiative, GENFI
Brain Commun. 2020 Aug 19;2(2):fcaa122. doi:10.1093/braincomms/fcaa122
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
Antonio Atalaia, Rachel Thompson, [...] Gisèle Bonne.
Presence of Genetic Variants Among Young Men With Severe COVID-19.
Caspar I van der Made, Annet Simons, [...] Alexander Hoischen
doi: 10.1001/jama.2020.13719.
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
Antonio Atalaia, Rachel Thompson, Alberto Corvo, [...] and Gisèle Bonne.
Orphanet J Rare Dis. 2020 Aug 12;15(1):206. doi:10.1186/s13023-020-01493-7.
A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.
K. Joeri van der Velde, Sander van den Hoek [...] Morris A. Swertz
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
Elisa Benetti, Rossella Tita, [...] Anna Maria Pinto
doi: 10.1038/s41431-020-0691-z. Epub 2020 Jul 17.
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
Grace McMacken, Hanns Lochmüller, Boglarka Bansagi, Angela Pyle, Angela Lochmüller, Patrick F Chinnery, Steve Laurie, Sergi Beltran, Leslie Matalonga, Rita Horvath
doi: 10.1007/s00415-020-10059-3. Epub 2020 Jul 12.
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
Chiara Passarelli, Rita Selvatici, [...] Alessandra Ferlini
doi: 10.3389/fgene.2020.00605. eCollection 2020.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro, William J Astle, [...] Willem H Ouwehand
doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
Romy van de Putte, Gabriel C Dworschak, [...] Alexander Hoischen
doi: 10.3389/fped.2020.00310. eCollection 2020.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Lisenka E L M Vissers, Sreehari Kalvakuri, [...] Arjan P M de Brouwer
doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Andreas Traschütz, Tommaso Schirinzi, [...] Matthis Synofzik
doi: 10.1002/ana.25751. Epub 2020 Jun 10.
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.
Carlo Wilke, Eva Haas, [...] Matthis Synofzik
BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes.
Elias Adriaenssens, Barbara Tedesco, Laura Mediani, Bob Asselbergh, Valeria Crippa, Francesco Antoniani, Serena Carra, Angelo Poletti, Vincent Timmerman
Sci Rep. 2020 May 29;10(1):8755. doi: 10.1038/s41598-020-65664-z.
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
Yavuz Oktay, Serdal Güngör, [...] Rita Horvath
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging
Chantal Deden, Kornelia Neveling, [...] Wendy A G van Zelst-Stams.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Andrea Cortese, Yi Zhu, [...] Stephan Zuchner
Small heat shock proteins in neurodegenerative diseases.
Leen Vendredy, Elias Adriaenssens, Vincent Timmerman
doi: 10.1007/s12192-020-01101-4. Epub 2020 Apr 22.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Leonardo Caporali, Stefania Magri, [...] Franco Taroni.
Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.
Frédéric Darios, Giovanni Stevanin
Lipids in the Physiopathology of Hereditary Spastic Paraplegias
Frédéric Darios, Fanny Mochel, Giovanni Stevanin
Towards a European health research and innovation cloud.
Frank Aarestrup, Abdullah Albeyatti, [...] and H. van Oyen.
Genome Med. 2020 Feb 19;12(1):18. doi: 10.1186/s13073-020-0713-z.
Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.
Victoria Tüngler, Marion Doebler-Neumann, Michaela Salandin, Peter Kaufmann, Christine Wolf, Nadja Lucas, Florian Harmuth, Jennifer Reichbauer, Ingeborg Krägeloh-Mann, Rebecca Schüle, Min Ae Lee-Kirsch
doi: 10.1212/NXG.0000000000000384. eCollection 2020 Feb.
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.
Claudia Stendel, Christiane Neuhofer, [...] ATP6 Study Group
doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.
2019
The 2020 version of the gene table of neuromuscular disorders (nuclear genome).
Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.
Victoria Tüngler, Marion Doebler-Neumann [...] Min Ae Lee-Kirsch.
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.
Neurol Genet. 2019 Nov 13;5(6):e374. doi: 10.1212/NXG.0000000000000374.
Defects in Axonal Transport in Inherited Neuropathies.
Danique Beijer, Angela Sisto, Jonas Van Lent, Jonathan Baets, Vincent Timmerman
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Matias Wagner, Daniel P S Osborn, [...] Rebecca Schüle
doi: 10.1038/s41467-019-12620-9.
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.
Jana Marie Schwarz, Daniela Hombach, Sebastian Köhler, David N Cooper, Markus Schuelke, Dominik Seelow
doi: 10.1093/nar/gkz327.
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
Rachel Thompson, Anastasios Papakonstantinou Ntalis, Sergi Beltran, Ana Töpf, Eduardo de Paula Estephan, Kiran Polavarapu, Peter A C 't Hoen, Paolo Missier, Hanns Lochmüller
doi: 10.1002/humu.23792. Epub 2019 Jun 23.
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Peer Arts, Annet Simons, Mofareh S AlZahrani, [...] and Alexander Hoischen.
Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3.
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Giulia Coarelli, Rebecca Schule [...] Alexandra Durr.
doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.
Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini, Vincenzo Nigro
Somatic mutational signatures in polyposis and colorectal cancer.
Judith E Grolleman, Marcos Díaz-Gay, Sebastià Franch-Expósito, Sergi Castellví-Bel, Richarda M de Voer
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
Giulia Coarelli, Rebecca Schule, [...] Alexandra Durr
Long-Read Sequencing Emerging in Medical Genetics.
Tuomo Mantere, Simone Kersten, Alexander Hoischen
Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies.
Elsayed LEO, Eltazi IZM, Ahmed AEM, Stevanin G.
Expert Rev Neurother. 2019 May;19(5):409-415. doi: 10.1080/14737175.2019.1608824. Epub 2019 Apr 30.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Tim W Rattay, Tobias Lindig, [...] Rebecca Schüle
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8 + T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
Jingxia Wu, Sicong Ma, [...] Guoliang Cui
doi: 10.1016/j.immuni.2019.03.005. Epub 2019 Apr 2.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard, Adriana P Rebelo, [...] Mohammad Ali Faghihi
Update on the Genetics of Spastic Paraplegias.
Maxime Boutry, Sara Morais, Giovanni Stevanin
doi: 10.1007/s11910-019-0930-2.
Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.
Matthis Synofzik, Hélène Puccio, Fanny Mochel, Ludger Schöls
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.
Michiel Krols, Bob Asselbergh, Riet De Rycke, Vicky De Winter, Alexandre Seyer, Franz-Josef Müller, Ingo Kurth, Geert Bultynck, Vincent Timmerman, Sophie Janssens
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Aleksandra Siekierska, Hannah Stamberger, [...] Peter De Jonghe
Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.
Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean-Pierre Timmermans, Michaela Auer-Grumbach, Manisha Juneja, Vincent Timmerman
Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.
Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller
doi: 10.1042/ETLS20180100. Epub 2019 Jan 28.
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
2018
Phenotero: Annotate as you write.
Daniela Hombach, Jana M Schwarz, Ellen Knierim, Markus Schuelke, Dominik Seelow, Sebastian Köhler.
doi: 10.1111/cge.13471. Epub 2018 Dec 7.
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.
Rachel Thompson, Angela Abicht, David Beeson, Andrew G Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Sebastian Köhler, Leigh Carmody [...] Peter N Robinson.
doi: 10.1093/nar/gky1105.
Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.
Maike Nagel, Jennifer Reichbauer, Judith Böhringer, Yvonne Schelling, Inge Krägeloh-Mann, Rebecca Schüle, Ulrike Ulmer
doi: 10.1016/j.scr.2018.10.021. Epub 2018 Nov 18.
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.
Michiel Krols, Bob Asselbergh [...] Sophie Janssens.
doi: 10.1093/hmg/ddy352.
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
Ashraf Yahia, Liena Elsayed, [...] Giovanni Stevanin
doi: 10.1186/s12883-018-1180-7.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Shereen G Ghosh, Kerstin Becker, [...] Joseph G Gleeson
Am J Hum Genet. 2018 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9.
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Manisha Juneja, Joshua Burns, Mario A Saporta, Vincent Timmerman
doi: 10.1136/jnnp-2018-318834. Epub 2018 Jul 17.
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Matthis Synofzik, Katherine L Helbig,[...] Rebecca Schüle
doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.
Improved ontology-based similarity calculations using a study-wise annotation model.
Sebastian Köhler