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
2020
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.
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.
Lipids in the Physiopathology of Hereditary Spastic Paraplegias
Frédéric Darios, Fanny Mochel, Giovanni Stevanin
Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.
Frédéric Darios, Giovanni Stevanin
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, Freerk van Dijk, Dennis Hendriksen, Cleo C. van Diemen, Lennart F. Johansson, Kristin M. Abbott, Patrick Deelen, Birgit Sikkema-Raddatz, Morris A. Swertz
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Leonardo Caporali, Stefania Magri, [...] Franco Taroni.
Small heat shock proteins in neurodegenerative diseases.
Leen Vendredy, Elias Adriaenssens, Vincent Timmerman
doi: 10.1007/s12192-020-01101-4. Epub 2020 Apr 22.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Andrea Cortese, Yi Zhu, [...] Stephan Zuchner
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
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
Yavuz Oktay, Serdal Güngör, [...] Rita Horvath
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.
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.
Carlo Wilke, Eva Haas, [...] Matthis Synofzik
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.
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.
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.
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.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
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.
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.
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.
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.
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
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.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14.
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
RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation
Jean-Madeleine de Sainte Agathe, Sandra Mercier, [...] Giovanni Stévanin
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.
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.
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.
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.
2019
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.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Sebastian Köhler, Leigh Carmody, [...] Peter N Robinson
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
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.
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.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Aleksandra Siekierska, Hannah Stamberger, [...] Peter De Jonghe
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
Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.
Matthis Synofzik, Hélène Puccio, Fanny Mochel, Ludger Schöls
Update on the Genetics of Spastic Paraplegias.
Maxime Boutry, Sara Morais, Giovanni Stevanin
doi: 10.1007/s11910-019-0930-2.
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.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard, Adriana P Rebelo, [...] Mohammad Ali Faghihi
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.
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
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.
Long-Read Sequencing Emerging in Medical Genetics.
Tuomo Mantere, Simone Kersten, Alexander Hoischen
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
Giulia Coarelli, Rebecca Schule, [...] Alexandra Durr
Somatic mutational signatures in polyposis and colorectal cancer.
Judith E Grolleman, Marcos Díaz-Gay, Sebastià Franch-Expósito, Sergi Castellví-Bel, Richarda M de Voer
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
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Tim W Rattay, Tobias Lindig, [...] Rebecca Schüle
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.
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.
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.
Defects in Axonal Transport in Inherited Neuropathies.
Beijer D, Sisto A, Van Lent J, Baets J, Timmerman V.
J Neuromuscul Dis. 2019;6(4):401-419. doi: 10.3233/JND-190427.
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.
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.
Maria-Del-Mar Amador, François Muratet, Elisa Teyssou, [...] and Stéphanie Millecamps.
Neurol Genet. 2019 Nov 13;5(6):e374. doi: 10.1212/NXG.0000000000000374.
The 2020 version of the gene table of neuromuscular disorders (nuclear genome).
Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
2018
Improved ontology-based similarity calculations using a study-wise annotation model.
Sebastian Köhler
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.
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.
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.
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
