Scientific publications


AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Ruizhi Deng, Tjakko J van Ham, [...] Tahsin Stefan Barakat.
Acta Neuropathol. 2023 Apr 29. doi: 10.1007/s00401-023-02579-9.

PubMed OpenAccess

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 .

Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018.

PubMed OpenAccess

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke Bogaert, Aurore Garde, Thierry Gautier, [...] Antonio Vitobello .

Am J Hum Gen 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016.

PubMed OpenAccess


Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

Conrad C. Weihl, Ana Töpf, Rocio Bengoechea, [...] Volker Straub.

Acta Neuropathol 2022.

PubMed OpenAccess

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

A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia

Jonathan De Winter, Liedewei Van de Vondel, Stephan Züchner, Els Ortibus, Jonathan Baets

Ann Neurol. 2022 Feb;91(2):298-299.
doi: 10.1002/ana.26297. Epub 2022 Jan 20.

PubMed OpenAccess

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

Annabelle Arlt, Nicolai Kohlschmidt [...] Semra Hiz.

Orphanet J Rare Dis. 2022 Jan 31;17(1):29.
doi: 10.1186/s13023-021-02068-w.

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

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing

Ashraf YahiaIkhlas Ben Ayed, [...] Giovanni Stevanin.

Ann Hum Genet. 2022 Jul;86(4):181-194.
doi: 10.1111/ahg.12460. Epub 2022 Feb 3.

PubMed OpenAccess

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

Eppie M Yiu, Paula Bray [...] Joshua Burns.

J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-538.
doi: 10.1136/jnnp-2021-328483. Epub 2022 Feb 9.

PubMed OpenAccess

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Matthew J Jennings, Alexia Kagiava [...] Rita Horvath.

Brain. 2022 Feb 10;awac055.
doi: 10.1093/brain/awac055. Online ahead of print.

PubMed OpenAccess

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Liedewei Van de Vondel, Jonathan De Winter [...] Jonathan Baets.

Mov. Disord. 2022 Jun;37(6):1175-1186.
doi: 10.1002/mds.28959. Epub 2022 Feb 12.

PubMed OpenAccess

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

Christoph Kessler, Lina Maria Serna-Higuita [...] Rebecca Schüle.

Ann Clin Transl Neurol. 2022 Mar;9(3):326-338.
doi: 10.1002/acn3.51518. Epub 2022 Feb 16.

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

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

Danique Beijer, Maike F Dohrn [...]  Jonathan Baets. 

Eur J Neurol.2022 Jul;29(7):2156-2161.
doi: 10.1111/ene.15310. Epub 2022 Mar 23.

PubMed OpenAccess

Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective

Thomas Klockgether, Tetsuo Ashizawa [...]  JMatthis Synofzik.

Mov Disord. 2022 Jun;37(6):1125-1130.
doi: 10.1002/mds.29032. Epub 2022 Apr 27.

PubMed OpenAccess

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.

Genome Med. 2022 Apr 28;14(1):44.
doi: 10.1186/s13073-022-01046-6.

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

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.

J Inherit Metab Dis. 2022 Jul;45(4):663-681.
doi: 10.1002/jimd.12507. Epub 2022 May 22.

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

The GA4GH Phenopacket schema defines a computable representation of clinical data

Julius O B Jacobsen, Michael Baudis [...] Peter N Robinson.

Nat Biotechnol. 2022 Jun;40(6):817-820.
doi: 10.1038/s41587-022-01357-4.

PubMed OpenAccess


The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano [...] Peter N Robinson.

Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217
doi: 10.1093/nar/gkaa1043.

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

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Andreas Traschütz, Andrea Cortese [...] Matthis Synofzik.

Neurology. 2021 Mar 2;96(9):e1369-e1382.
doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25.

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

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

Alexander J M DingemansDiante E Stremmelaar [...] Bert B A de Vries

Eur J Hum Genet. 2021 Sep;29(9):1418-1423.
doi: 10.1038/s41431-021-00824-x. Epub 2021 Feb 18.

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

A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteins

T Reid AldersonElias Adriaenssens [...] Justin Lp Benesch

EMBO J. 2021 Apr 15;40(8):e103811.
doi: 10.15252/embj.2019103811. Epub 2021 Mar 1.

PubMed OpenAccess

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder

Tanja Schmitz-HübschSilke Lux [...] Martina Minnerop 

Ann Clin Transl Neurol. 2021 Apr;8(4):774-789.
doi: 10.1002/acn3.51315. Epub 2021 Mar 19.

PubMed OpenAccess

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype

David MengelAndreas Traschütz [...]  Matthis Synofzik

J Neurol. 2021 Oct;268(10):3845-3851.
doi: 10.1007/s00415-021-10524-7. Epub 2021 Apr 3.

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

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

David Lewis-Smith, Peter D Galer [...] Ingo Helbig.

doi: 10.1111/epi.16908. Epub 2021 May 5.

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

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

Rebecca Schüle, Dagmar Timmann [...] Solve-RD Consortium.

Eur J Hum Genet. 2021 Sep;29(9):1332-1336.
doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10.

PubMed OpenAccess

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Manuela Wiessner, Reza Maroofian [...] Jan Senderek.

Brain. 2021 Jun 22;144(5):1422-1434.
doi: 10.1093/brain/awab041.

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

High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients

Willem De RidderPeter De JongheVolker StraubJonathan Baets.

Neuromuscul Disord. 2021 Nov;31(11):1154-1160.
doi: 10.1016/j.nmd.2021.04.010. Epub 2021 May 14.

PubMed OpenAccess

Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease

Evgeniia Prokhorova, Thomas Agnew [...] Ivan Ahel.

Mol Cell.2021 Jun 17;81(12):2640-2655.e8.
doi: 10.1016/j.molcel.2021.04.028. Epub 2021 May 20.

PubMed OpenAccess

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Holger Hengel, Shabab B Hannan [...] Ludger Schöls.

Am J Hum Genet. 2021 Jun 3;108(6):1069-1082.
doi: 10.1016/j.ajhg.2021.04.024. Epub 2021 May 21.

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

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype

Adam Jackson, Siddharth Banka [...] Jill Clayton-Smith.

doi: 10.1002/ajmg.a.62370. Epub 2021 Jun 1.

PubMed OpenAccess

An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families

Mahmoud Koko, Ashraf Yahia [...] Giovanni Stevanin.

doi: 10.1111/ahg.12437. Epub 2021 Jun 10.

PubMed OpenAccess

Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction

Jonas Van Lent, Peter Verstraelen [...] Vincent Timmerman.

doi: 10.1093/brain/awab226.

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 ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

Andreas Traschütz, Selina Reich, [...] Matthis Synofzik.

Front Neurol. 2021 Jun 25;12:677551.
doi: 10.3389/fneur.2021.677551. eCollection 2021.

PubMed OpenAccess

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Maria Iqbal, Reza Maroofian [...] Gökhan Yigit.

Front Neurol. 2021 Jun 25;12:677551.
doi: 10.3389/fneur.2021.677551. eCollection 2021.

PubMed OpenAccess

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

Gemma L Carvill, Sandra Jansen [...] Heather C Mefford.

Dev Med Child Neurol. 2021 Dec;63(12):1441-1447.
doi: 10.1111/dmcn.14989. Epub 2021 Jul 11.

PubMed OpenAccess

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Danique Beijer, Hong Joo Kim [...] Jonathan Baets

JCI Insight.2021 Jul 22;6(14):e148363.
doi: 10.1172/jci.insight.148363.

PubMed OpenAccess

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J A Weerts, Kristina Lanko [...] Tahsin Stefan Barakat

Genet Med. 2021 Nov;23(11):2122-2137.
doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3.

PubMed OpenAccess

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. 

Eur J Pediatr. 2022 Jan;181(1):359-367.
doi: 10.1007/s00431-021-04213-w. Epub 2021 Aug 4.

PubMed OpenAccess

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response

Danique Beijer, Thomas Agnew [...] Jonathan Baets. 

Life Sci Alliance.2021 Sep 3;4(11):e202101057.
doi: 10.26508/lsa.202101057. Print 2021 Nov.


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

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

German Demidov, Joohyun Park [...] Stephan Ossowski.

Mol Genet Genomic Med. 2021 Dec;9(12):e1807.
doi: 10.1002/mgg3.1807. Epub 2021 Sep 7.

PubMed OpenAccess

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.

Am J Med Genet A. 2022 Jan;188(1):283-291.
doi: 10.1002/ajmg.a.62494. Epub 2021 Sep 14.

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

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.

Nucleic Acid Ther. 2022 Apr;32(2):83-94.
doi: 10.1089/nat.2021.0039. Epub 2021 Sep 29.

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

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Alistair T Pagnamenta, Adam Jackson [...] Asaf Ta-Shma.

Clin Genet. 2022 Jan;101(1):127-133.
doi: 10.1111/cge.14071. Epub 2021 Oct 11.

PubMed OpenAccess

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis

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

Neurology.2021 Dec 7;97(23):e2315-e2327.
doi: 10.1212/WNL.0000000000012962. Epub 2021 Oct 14.

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

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

Daniel Danis, Julius O B Jacobsen [...] Peter N Robinson.

Am J Hum Genet. 2021 Nov 4;108(11):2205.
doi: 10.1016/j.ajhg.2021.09.014.

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

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Andrea GangfußArtur Czech [...] Andreas Roos 

J Pathol. 2022 Jan;256(1):93-107.
doi: 10.1002/path.5812. Epub 2021 Nov 18.

PubMed OpenAccess

Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study

Carlo WilkeSelina Reich [...] Matthis Synofzik.

Ann Neurol. 2022 Jan;91(1):33-47.
doi: 10.1002/ana.26265. Epub 2021 Nov 29.


PubMed OpenAccess

Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders

Alexander J M DingemansMax Hinne [...] Bert B A de Vries

Genet Med. 2022 Mar;24(3):645-653.
doi: 10.1016/j.gim.2021.10.019. Epub 2021 Nov 30.

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

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

James Fasham, Siying Lin [...] Emma L Baple 

Genet Med. 2022 Mar;24(3):631-644.
doi: 10.1016/j.gim.2021.10.014. Epub 2021 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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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
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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.
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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.
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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.
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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.
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Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.

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

Joanna KaplanisKaitlin E Samocha, [...]  Kyle Retterer
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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.

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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.
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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.
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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

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.
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PubMed OpenAccess

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.
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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.
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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.

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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.
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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.

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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.

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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.

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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.
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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.
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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.
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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.
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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.

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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.

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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.
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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.
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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