Scientific publications


The European Genome-phenome Archive in 2021

Mallory Ann Freeberg, Lauren A Fromont, [...] Jordi Rambla.

Nucleic Acids Res. 2022 Jan 7;50(D1):D980-D987.
doi: 10.1093/nar/gkab1059.

PubMed OpenAccess

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.

Hum. Mutat. 2022 Apr;43(4):487-498.
doi: 10.1002/humu.24333. Epub 2022 Feb 3.

PubMed OpenAccess

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.

Eur J Med Genet. 2022 May;65(5):104467.

doi: 10.1016/j.ejmg.2022.104467. Epub 2022 Mar 1.

PubMed OpenAccess

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. 

Eur J Med Genet. 2022 May;65(5):104475.
doi: 10.1016/j.ejmg.2022.104475. Epub 2022 Mar 11.

PubMed OpenAccess

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia

Jean-Loup Méreaux, Guillaume Banneau, [...]  Giovanni Stevanin. 

Brain. 2022 Apr 29;145(3):1029-1037.
doi: 10.1093/brain/awab386.

PubMed OpenAccess

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Gemma Bullich, Leslie Matalonga, [...] Sergi Beltran.

J Mol Diagn. 2022 May;24(5):529-542.
doi: 10.1016/j.jmoldx.2022.02.003.

PubMed OpenAccess

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. 

J Community Genet. 2022 Jun;13(3):313-327.
doi: 10.1007/s12687-022-00589-w. Epub 2022 May 6.

PubMed OpenAccess

Recommendations for whole genome sequencing in diagnostics for rare diseases

Erika Souche , Sergi Beltran [...] Marjan M Weiss . 

Eur J Hum Genet. 2022 Sep;30(9):1017-1021.
doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16.

PubMed OpenAccess

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Semra Hiz Kurul, Yavuz Oktay [...] Rita Horvath. 

Brain. 2022 May 24;145(4):1507-1518
doi: 10.1093/brain/awab395.

PubMed OpenAccess

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Steven Laurie, Davide Piscia [...] Sergi Beltran.

Hum Mutat. 2022 Jun;43(6):717-733.
doi: 10.1002/humu.24353.

PubMed OpenAccess


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 .

HGG Adv. 2021 Aug 24;3(1):100054.
doi: 10.1016/j.xhgg.2021.100054. eCollection 2022 Jan 13.

PubMed OpenAccess

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.

Am J Med Genet A. 2021 Apr;185(4):1039-1046.
doi: 10.1002/ajmg.a.62057. Epub 2021 Jan 13.

PubMed OpenAccess

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

Maria Elena Onore, Annalaura Torella, [...] Vincenzo Nigro.

Genes (Basel). 2021 Jan 21;12(2):133.
doi: 10.3390/genes12020133.

PubMed OpenAccess

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, [...] Lisenka E L M Vissers.
Am J Hum Genet. 2021 Feb 4;108(2):346-356.
doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28.

PubMed OpenAccess

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

Rita SelvaticiRachele Rossi [...] Alessandra Ferlini

Neurol Genet. 2020 Dec 24;7(1):e536.
doi: 10.1212/NXG.0000000000000536. eCollection 2021 Feb.

PubMed OpenAccess

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Geeske M van WoerdenMelanie Bos [...] Tjitske Kleefstra

Hum Mutat. 2021 Apr;42(4):445-459.
doi: 10.1002/humu.24176. Epub 2021 Mar 1.

PubMed OpenAccess

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

Bart P G H van der SandenJordi Corominas [...] Christian Gilissen

Genet Med. 2021 Aug;23(8):1569-1573.
doi: 10.1038/s41436-021-01174-1. Epub 2021 Apr 12.

PubMed OpenAccess

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Dmitrijs RotsEric Chater-Diehl [...] Rosanna Weksberg.

Am J Hum Genet. 2021 Jun 3;108(6):1053-1068.
doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27.

PubMed OpenAccess

Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges

José Garcia-Pelaez, Rita Barbosa-Matos, Irene Gullo, Fátima Carneiro, Carla Oliveira

doi: 10.1002/1878-0261.12948. Epub 2021 May 2.

PubMed OpenAccess

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.

J Nephrol. 2021 Dec;34(6):1855-1874.
doi: 10.1007/s40620-021-01048-4. Epub 2021 May 8.

PubMed OpenAccess

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Mridul Johari, Jaakko Sarparanta, [...] Bjarne Udd.

Acta Neuropathol 2021 Aug;142(2):375-393.
doi: 10.1007/s00401-021-02319-x. Epub 2021 May 11.

PubMed OpenAccess

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Ana Töpf, Angela Pyle, [...] Rita Horvath.

doi: 10.1038/s41431-021-00851-8. Epub 2021 Jun 1.

PubMed OpenAccess

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

Iris B A W Te Paske, José Garcia-Pelaez, [...] Richarda M de Voer.

doi: 10.1038/s41431-021-00853-6. Epub 2021 Jun 1.

PubMed OpenAccess

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Elke de Boer, Charlotte W Ockeloen, [...] Lisenka E L M Vissers.

doi: 10.1038/s41431-021-00900-2. Epub 2021 Jun 1.

PubMed OpenAccess

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga, Carles Hernández-Ferrer, [...] Sergi Beltran.

doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1.

PubMed OpenAccess

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

Birte Zurek, Kornelia Ellwanger, [...] Holm Graessner.

doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1.

PubMed OpenAccess

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia

Adriana P Rebelo, Ilse Eidhof, [...] PREPARE network.

Brain. 2021 Jun 22;144(5):1467-1481.
doi: 10.1093/brain/awab071.

PubMed OpenAccess

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 .

Cancers (Basel). 2021 Sep 4;13(17):4464.
doi: 10.3390/cancers13174464.

PubMed OpenAccess

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.

Eur J Hum Genet. 2022 Mar;30(3):271-281.
doi: 10.1038/s41431-021-00960-4. Epub 2021 Sep 15.

PubMed OpenAccess

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

Marco Savarese, Anna Vihola, [...] Bjarne Udd.

Neurol Genet. 2021 Aug 10;7(5):e619.
doi: 10.1212/NXG.0000000000000619. eCollection 2021 Oct.

PubMed OpenAccess

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

Vyne van der Schoot, Lonneke Haer-Wigman [...] Helger G Yntema.

Eur J Hum Genet. 2022 Feb;30(2):170-177.
doi: 10.1038/s41431-021-00964-0. Epub 2021 Oct 25.

PubMed OpenAccess

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.

J Med Econ. 2021 Nov;24(sup1):60-70.
doi: 10.1080/13696998.2021.2009725.

PubMed OpenAccess

RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation

Jean-Madeleine de Sainte AgatheSandra Mercier, [...] Giovanni Stévanin 

Mov Disord. 2021 Mar;36(3):771-774.
doi: 10.1002/mds.28371. Epub 2020 Nov 9.

PubMed OpenAccess

Long-read trio sequencing of individuals with unsolved intellectual disability.

Marc PauperErdi Kucuk, [...] Christian Gilissen

Eur J Hum Genet. 2021 Apr;29(4):637-648.
doi: 10.1038/s41431-020-00770-0. Epub 2020 Nov 30.

PubMed OpenAccess

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

Eur J Hum Genet. 2022 Jan;65(1):104402.
doi: 10.1016/j.ejmg.2021.104402. Epub 2021 Dec 1.

PubMed OpenAccess

Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes

José Garcia-PelaezRita Barbosa-Matos, [...] Carla Oliveira

Eur J Med Genet. 2022 Jan;65(1):104401.
doi: 10.1016/j.ejmg.2021.104401. Epub 2021 Dec 3.

PubMed OpenAccess


Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.

Yavuz OktaySerdal Güngör, [...] Rita Horvath 

J Neuromuscul Dis. 2020;7(3):301-308. doi: 10.3233/JND-200510.

PubMed OpenAccess

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Claudia StendelChristiane Neuhofer, [...] ATP6 Study Group

Neurol Genet. 2020 Jan 13;6(1):e393.
doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.

PubMed OpenAccess

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.

Victoria TünglerMarion Doebler-NeumannMichaela SalandinPeter KaufmannChristine WolfNadja LucasFlorian HarmuthJennifer ReichbauerIngeborg Krägeloh-MannRebecca SchüleMin Ae Lee-Kirsch

Neurol Genet. 2019 Dec 19;6(1):e384.
doi: 10.1212/NXG.0000000000000384. eCollection 2020 Feb.

PubMed OpenAccess

Towards a European health research and innovation cloud.

Frank AarestrupAbdullah Albeyatti,  [...] and H. van Oyen.

Genome Med. 2020 Feb 19;12(1):18. doi: 10.1186/s13073-020-0713-z.

PubMed OpenAccess

Lipids in the Physiopathology of Hereditary Spastic Paraplegias

Frédéric DariosFanny MochelGiovanni Stevanin

Front Neurosci. 2020 Feb 28;14:74. doi: 10.3389/fnins.2020.00074. eCollection 2020.

PubMed OpenAccess

Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.

Frédéric DariosGiovanni Stevanin

J Mol Biol. 2020 Apr 3;432(8):2714-2734. doi: 10.1016/j.jmb.2020.02.033. Epub 2020 Mar 5.

PubMed OpenAccess

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.

K. Joeri van der VeldeSander van den HoekFreerk van DijkDennis HendriksenCleo C. van DiemenLennart F. JohanssonKristin M. AbbottPatrick DeelenBirgit Sikkema-RaddatzMorris A. Swertz

Advanced Genetics. 2020 April 14.;


ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Leonardo CaporaliStefania Magri, [...]  Franco Taroni.

Ann Neurol. 2020 Jul;88(1):18-32. doi: 10.1002/ana.25723. Epub 2020 Apr 21.

PubMed OpenAccess

Small heat shock proteins in neurodegenerative diseases.

Leen VendredyElias AdriaenssensVincent Timmerman

Cell Stress Chaperones. 2020 Jul;25(4):679-699.
doi: 10.1007/s12192-020-01101-4. Epub 2020 Apr 22.

PubMed OpenAccess

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Andrea CorteseYi Zhu, [...]  Stephan Zuchner

Nat. Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4.

PubMed OpenAccess

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Chantal DedenKornelia Neveling, [...] Wendy A G van Zelst-Stams.

Prenat Diagn. 2020 Jul;40(8):972-983.
doi: 10.1002/pd.5717. Epub 2020 May 5.

PubMed OpenAccess

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.

Chantal DedenKornelia Neveling, [...] Wendy A G van Zelst-Stams

Prenat Diagn. 2020 Jul;40(8):972-983. doi: 10.1002/pd.5717. Epub 2020 May 5.

PubMed OpenAccess

BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes.

Elias AdriaenssensBarbara TedescoLaura MedianiBob AsselberghValeria CrippaFrancesco AntonianiSerena CarraAngelo PolettiVincent Timmerman

Sci Rep. 2020 May 29;10(1):8755. doi: 10.1038/s41598-020-65664-z.

PubMed OpenAccess

Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients

Miriam Zacchia, Francesca Del Vecchio Blanco, [...] Davide Viggiano.

Clin Kidney J. 2020 Dec 6;14(6):1545-1551.
doi: 10.1093/ckj/sfaa182. eCollection 2021 Jun.

PubMed OpenAccess

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

Romy van de PutteGabriel C Dworschak, [...] Alexander Hoischen

Front Pediatr. 2020 Jun 23;8:310.
doi: 10.3389/fped.2020.00310. eCollection 2020.

PubMed OpenAccess

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.

Carlo WilkeEva Haas, [...] Matthis Synofzik

EMBO Mol Med. 2020 Jul 7;12(7):e11803.
doi: 10.15252/emmm.201911803. Epub 2020 Jun 8.

PubMed OpenAccess

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.

Andreas TraschützTommaso Schirinzi, [...] Matthis Synofzik

Ann Neurol. 2020 Aug;88(2):251-263.
doi: 10.1002/ana.25751. Epub 2020 Jun 10.

PubMed OpenAccess

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 VissersSreehari Kalvakuri, [...] Arjan P M de Brouwer

Am J Hum Gen. 2020 Jul 2;107(1):164-172.
doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17.

PubMed OpenAccess

Whole-genome sequencing of patients with rare diseases in a national health system.

Ernest TurroWilliam J Astle, [...] Willem H Ouwehand

Nature. 2020 Jul;583(7814):96-102.
doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed OpenAccess

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

Leslie MatalongaSteven Laurie, [...]  RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors
J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30.

PubMed OpenAccess

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.

Chiara PassarelliRita Selvatici, [...]  Alessandra Ferlini

Front Genet. 2020 Jul 3;11:605.
doi: 10.3389/fgene.2020.00605. eCollection 2020.

PubMed OpenAccess

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

Grace McMackenHanns LochmüllerBoglarka BansagiAngela PyleAngela LochmüllerPatrick F ChinnerySteve LaurieSergi BeltranLeslie MatalongaRita Horvath

J Neurol. 2020 Dec;267(12):3643-3649.
doi: 10.1007/s00415-020-10059-3. Epub 2020 Jul 12.

PubMed OpenAccess

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Elisa BenettiRossella Tita, [...] Anna Maria Pinto

Eur J Hum Genet. 2020 Nov;28(11):1602-1614.
doi: 10.1038/s41431-020-0691-z. Epub 2020 Jul 17.

PubMed OpenAccess

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.

Antonio AtalaiaRachel ThompsonAlberto Corvo, [...] and Gisèle Bonne.

Orphanet J Rare Dis. 2020 Aug 12;15(1):206. doi:10.1186/s13023-020-01493-7.

PubMed OpenAccess

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

Caspar I van der MadeAnnet Simons, [...] Alexander Hoischen

JAMA. 2020 Aug 18;324(7):663-673.
doi: 10.1001/jama.2020.13719.

PubMed OpenAccess

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.

Andre AltmannDavid M CashMartina Bocchetta, [...] Mina RytenJonathan D Rohrer and Genetic FTD Initiative, GENFI

Brain Commun. 2020 Aug 19;2(2):fcaa122. doi:10.1093/braincomms/fcaa122

PubMed OpenAccess

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Annalaura TorellaMariateresa Zanobio, [...] Vincenzo Nigro

PLoS One. 2020 Aug 19;15(8):e0237803.
doi: 10.1371/journal.pone.0237803. eCollection 2020.

PubMed OpenAccess

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Joanna KaplanisKaitlin E Samocha, [...]  Kyle Retterer
Nature. 2020 Oct;586(7831):757-762.
doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14.

PubMed OpenAccess

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.

Liena E O ElsayedInaam N Mohammed, [...] Giovanni Stevanin

Front Neurol. 2020 Oct 29;11:569996. doi: 10.3389/fneur.2020.569996. eCollection 2020.

PubMed OpenAccess

Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1.

Maike NagelSandra MüßigPhilip HöflingerLudger SchölsStefan HauserRebecca Schüle

Stem Cell Res. 2020 Dec;49:102059.
doi: 10.1016/j.scr.2020.102059. Epub 2020 Oct 29.

PubMed OpenAccess

Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.

Iris PaskeMarjolijn LigtenbergNicoline HoogerbruggeRicharda de Voer

Int J Mol Sci. 2020 Nov 19;21(22):8757.
doi: 10.3390/ijms21228757.

PubMed OpenAccess

The 2021 version of the gene table of neuromuscular disorders (nuclear genome).

Louise BenarrochGisèle BonneFrançois RivierDalil Hamroun

Neuromuscul Disord. 2020 Dec;30(12):1008-1048. doi: 10.1016/j.nmd.2020.11.009.

PubMed OpenAccess


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.

PubMed OpenAccess

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Sebastian KöhlerLeigh Carmody, [...] Peter N Robinson

Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.

PubMed OpenAccess

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

María-Jesús SobridoPeter BauerTom de KoningThomas KlopstockYann NadjarMarc C PattersonMatthis SynofzikChris J Hendriksz

Orphanet J Rare Dis. 2019 Jan 21;14(1):20. doi: 10.1186/s13023-018-0985-1.

PubMed OpenAccess

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.

Rachel ThompsonGisèle BonnePaolo MissierHanns Lochmüller

Emerg Top Life Sci. 2019 Mar;3(1):19-37.
doi: 10.1042/ETLS20180100. Epub 2019 Jan 28.

PubMed OpenAccess

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.

Mansour HaidarBob AsselberghElias AdriaenssensVicky De WinterJean-Pierre TimmermansMichaela Auer-GrumbachManisha JunejaVincent Timmerman

Autophagy. 2019 Jun;15(6):1051-1068. doi: 10.1080/15548627.2019.1569930. Epub 2019 Jan 31.

PubMed OpenAccess

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.

Aleksandra SiekierskaHannah Stamberger, [...] Peter De Jonghe

Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w.

PubMed OpenAccess

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.

Michiel KrolsBob AsselberghRiet De RyckeVicky De WinterAlexandre SeyerFranz-Josef MüllerIngo KurthGeert BultynckVincent TimmermanSophie Janssens

Hum Mol Genet. 2019 Feb 15;28(4):615-627. doi: 10.1093/hmg/ddy352.

PubMed OpenAccess

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.

Matthis SynofzikHélène PuccioFanny MochelLudger Schöls

Neuron. 2019 Feb 20;101(4):560-583. doi: 10.1016/j.neuron.2019.01.049.

PubMed OpenAccess

Update on the Genetics of Spastic Paraplegias.

Maxime BoutrySara MoraisGiovanni Stevanin

Curr Neurol Neurosci Rep. 2019 Feb 28;19(4):18.

doi: 10.1007/s11910-019-0930-2.


Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Mohammad Ali Farazi FardAdriana P Rebelo, [...] Mohammad Ali Faghihi

Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28.

PubMed OpenAccess

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8 + T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

Jingxia WuSicong Ma, [...] Guoliang Cui

Immunity. 2019 May 21;50(5):1218-1231.e5.
doi: 10.1016/j.immuni.2019.03.005. Epub 2019 Apr 2.

PubMed OpenAccess

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.

Katja KlothMatthis SynofzikChristoph KernstockSimone Schimpf-LinzenboldFrank SchuettaufAxel NeuBernd WissingerNicole Weisschuh

BMC Med Genet. 2019 Apr 8;20(1):62. doi: 10.1186/s12881-019-0795-x.

PubMed OpenAccess

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.

PubMed OpenAccess

Long-Read Sequencing Emerging in Medical Genetics.

Tuomo MantereSimone KerstenAlexander Hoischen

Front Genet. 2019 May 7;10:426. doi: 10.3389/fgene.2019.00426. eCollection 2019.

PubMed OpenAccess

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Giulia CoarelliRebecca Schule, [...] Alexandra Durr

Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.

PubMed OpenAccess

Somatic mutational signatures in polyposis and colorectal cancer.

Judith E GrollemanMarcos Díaz-GaySebastià Franch-ExpósitoSergi Castellví-BelRicharda M de Voer

Mol Aspects Med. 2019 Oct;69:62-72. doi: 10.1016/j.mam.2019.05.002. Epub 2019 May 23.

PubMed OpenAccess

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.

Luciano MerliniPatrizia SabatelliManuela AntonielValeria CarinciFabio NiroGiuseppe MonettiAnnalaura TorellaTeresa GiuglianoCesare FaldiniVincenzo Nigro

Skelet Muscle. 2019 May 27;9(1):14. doi: 10.1186/s13395-019-0199-9.

PubMed OpenAccess

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Tim W RattayTobias Lindig, [...] Rebecca Schüle

Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.

PubMed OpenAccess

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Peer ArtsAnnet SimonsMofareh S AlZahrani, [...] and Alexander Hoischen.

Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3.

PubMed OpenAccess

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.

Rachel ThompsonAnastasios Papakonstantinou NtalisSergi BeltranAna TöpfEduardo de Paula EstephanKiran PolavarapuPeter A C 't HoenPaolo MissierHanns Lochmüller

Hum Mutat. 2019 Oct;40(10):1797-1812.
doi: 10.1002/humu.23792. Epub 2019 Jun 23.

PubMed OpenAccess

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Jana Marie SchwarzDaniela HombachSebastian KöhlerDavid N CooperMarkus SchuelkeDominik Seelow

Nucleic Acids Res. 2019 Jul 2;47(W1):W106-W113.
doi: 10.1093/nar/gkz327.

PubMed OpenAccess

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Matias WagnerDaniel P S Osborn, [...] Rebecca Schüle

Nat. Commun. 2019 Oct 21;10(1):4790.
doi: 10.1038/s41467-019-12620-9.

PubMed OpenAccess

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.

Maike NagelJennifer ReichbauerJudith BöhringerYvonne SchellingInge Krägeloh-MannRebecca SchüleUlrike Ulmer

Stem Cell Res. 2019 Mar;35:101336.
doi: 10.1016/j.scr.2018.10.021. Epub 2018 Nov 18.

PubMed OpenAccess

Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.

Maria-Del-Mar AmadorFrançois MuratetElisa Teyssou, [...] and Stéphanie Millecamps.

Neurol Genet. 2019 Nov 13;5(6):e374. doi: 10.1212/NXG.0000000000000374.

PubMed OpenAccess

Phenotero: Annotate as you write.

Daniela HombachJana M SchwarzEllen KnierimMarkus SchuelkeDominik SeelowSebastian Köhler

Clin Genet. 2019 Feb;95(2):287-292.

doi: 10.1111/cge.13471. Epub 2018 Dec 7.

PubMed OpenAccess

The 2020 version of the gene table of neuromuscular disorders (nuclear genome).

Louise BenarrochGisèle BonneFrançois RivierDalil Hamroun

Neuromuscul Disord 2019 Dec;29(12):980-1018 doi: 10.1016/j.nmd.2019.10.010.

PubMed OpenAccess


Improved ontology-based similarity calculations using a study-wise annotation model.

Sebastian Köhler

Database (Oxford). 2018 Jan 1;2018:bay026. doi: 10.1093/database/bay026.

PubMed OpenAccess

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.

Manisha JunejaJoshua BurnsMario A SaportaVincent Timmerman

J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):58-67.

doi: 10.1136/jnnp-2018-318834. Epub 2018 Jul 17.

PubMed OpenAccess

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

Matthis SynofzikKatherine L Helbig,[...] Rebecca Schüle

Eur J Hum Genet. 2018 Nov;26(11):1623-1634.
doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.

PubMed OpenAccess

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Shereen G GhoshKerstin 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.

PubMed OpenAccess

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.

Ashraf YahiaLiena Elsayed, [...] Giovanni Stevanin

BMC Neurol. 2018 Oct 23;18(1):175.
doi: 10.1186/s12883-018-1180-7.

PubMed OpenAccess

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Rachel ThompsonAngela AbichtDavid BeesonAndrew G EngelBruno EymardEmmanuel MaximeHanns Lochmüller

Orphanet J Rare Dis. 2018 Nov 26;13(1):211. doi: 10.1186/s13023-018-0955-7.

PubMed OpenAccess