Scientific publications

2023

 

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.

J Neurol Neurosurg Psychiatry. 2023 Nov 24:jnnp-2023-332130. doi: 10.1136/jnnp-2023-332130.
 

PubMed OpenAccess

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.

PubMed OpenAccess

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

 

David Lagorce, Emeline Lebreton , [...] Ana Rath. 

Am J Hum Gen 2023 Nov 6. doi: 10.1038/s41431-023-01486-7. Online ahead of print.
 

PubMed OpenAccess

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Robin Wijngaard, German Demidov [...] Christian Gilissen.
Eur J Hum Genet. 2023 Oct 19. doi: 10.1038/s41431-023-01478-7. Online ahead of print.

PubMed OpenAccess

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.

 
Juliane BremerAxel Meinhardt [...] Joachim Weis.
 
Brain Pathol. 2023 Aug 15:e13200. doi: 10.1111/bpa.13200. Online ahead of print.

PubMed OpenAccess

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.

 
Alexander J M DingemansMax Hinne [...] Bert B A de Vries.
 
Nat Genet. 2023 Sep;55(9):1598-1607. doi: 10.1038/s41588-023-01469-w. Epub 2023 Aug 7.
 

PubMed OpenAccess

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort.

 
Holger HengelDavid Pellerin [...] Matthis Synofzik .
 
Mov Disord. 2023 Aug;38(8):1557-1558. doi: 10.1002/mds.29559.
Epub 2023 Aug 1.
 

PubMed OpenAccess

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

 
Manuela MorleoRossella Venditti [...] Brunella Franco.
 
Am J Hum Genet. 2023 Aug 3;110(8):1377-1393.
doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13
 

PubMed OpenAccess

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.

 
Elke de BoerCarlo Marcelis [...] Lisenka E L M Vissers.
 
HGG Adv. 2023 Apr 25;4(3):100200.
doi: 10.1016/j.xhgg.2023.100200. eCollection 2023 Jul 13.
 

PubMed OpenAccess

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

 
Carolina Gracia-Diaz, Yijing Zhou [...] Naiara Akizu.
 
Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5.
 

PubMed OpenAccess

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.

 

Annalaura Torella, Ivana Ricca  [...] Alessandro Filla.

J Neurol. 2023 Oct;270(10):5057-5063.
doi: 10.1007/s00415-023-11816-w. Epub 2023 Jul 7.
 

PubMed OpenAccess

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.

Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29.
 

PubMed OpenAccess

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.

Ann Neurol. 2023 Sep;94(3):470-485.
doi: 10.1002/ana.26712. Epub 2023 Jun 12.
 

PubMed OpenAccess

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.

Gastric Cancer. 2023 Sep;26(5):653-666.
doi: 10.1007/s10120-023-01395-0. Epub 2023 May 30.
 

PubMed OpenAccess

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.

 

David Pellerin, Carlo Wilke [...] Matthis Synofzik.

J Neurol Neurosurg Psychiatry. 2023 Jun 30:jnnp-2023-331490.
doi: 10.1136/jnnp-2023-331490.
 

PubMed OpenAccess

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.

EBio Medicine. 2023 Jun:92:104621.
doi: 10.1016/j.ebiom.2023.104621. Epub 2023 May 18.
 

PubMed OpenAccess

Comprehensive de novo mutation discovery with HiFi long-read sequencing.

 

Erdi Kucuk, Bart P G H van der Sanden,[...] Christian Gilissen.

Genome Med.2023 May 8;15(1):34.
doi: 10.1186/s13073-023-01183-6.
 

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

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

 

Burcu Yaldiz, Erdi Kucu [...] Solve-RD consortium.

Hum Genomics. 2023 May 3;17(1):39. doi: 10.1186/s40246-023-00485-5.
 

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

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

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Adam JacksonSheng-Jia Lin [...] Siddharth Banka.
 
HGG Adv. 2023 Mar 3;4(2):100186.
doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13.
 

PubMed OpenAccess

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.

Danique BeijerBrent L Fogel [...] AGI Ataxia NGS genomics, platforms Working Group.
 
Cerebellum. 2023 Mar 4. doi: 10.1007/s12311-023-01537-1. Online ahead of print.
 

PubMed OpenAccess

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.

Andreas Traschütz, Astrid D Adarmes-Gomez [...] Matthis Synofzik.
 
Mov Disord. 2023 Jun;38(6):1109-1112. doi: 10.1002/mds.29397. Epub 2023 Apr 7.
 

PubMed OpenAccess

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.

Barbara TedescoLeen Vendredy [...] Angelo Poletti
 
Eur J Pediatr. 2023 Jun;182(6):2683-2692. doi: 10.1007/s00431-023-04909-1. Epub 2023 Mar 31.
 

PubMed OpenAccess

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.

Barbara TedescoLeen Vendredy [...] Angelo Poletti
 
Autophagy. 2023 Aug;19(8):2217-2239. doi: 10.1080/15548627.2023.2179780. Epub 2023 Feb 28.
 

PubMed OpenAccess

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

Simona Amenta, Giuseppe Marangi [...] Marcella Zollino. 
 
Eur J Hum Genet. 2023 Jun;31(6):648-653.
doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16.
 

PubMed OpenAccess

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.

Alberto Corvò, Leslie Matalonga [...] Sergi Beltran. 
 
Cell Genom. 2023 Jan 11;3(2):100246.
doi: 10.1016/j.xgen.2022.100246. eCollection 2023 Feb 8.
 

PubMed OpenAccess

Small heat shock proteins operate as molecular chaperones in the mitochondrial intermembrane space.

Elias Adriaenssens, Bob Asselbergh [...] Vincent Timmerman
 
Nat Cell Biol. 2023 Mar;25(3):467-480. doi: 10.1038/s41556-022-01074-9. Epub 2023 Jan 23.
 

PubMed OpenAccess

Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.

Claudia Ciaccio, Chiara Pantaleoni [...] Stefano D'Arrigo.
 
Neurol Genet. 2023 Jan 23;9(2):e200049.
doi: 10.1212/NXG.0000000000200049. eCollection 2023 Apr.
 

PubMed OpenAccess

Periventricular heterotopia in a male child with USP9X missense variant.

Arianna De Laurentiis, Claudia Ciaccio [...]  Stefano D'Arrigo.
 
Am J Med Genet A. 2023 May;191(5):1350-1354.
doi: 10.1002/ajmg.a.63123. Epub 2023 Jan 21.
 

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. Epub 2023 Jan 20.
 

PubMed OpenAccess

The chaperone-assisted selective autophagy complex dynamics and dysfunctions

Barbara TedescoLeen Vendredy, Vincent TimmermanAngelo Poletti
 
Autophagy. 2023 Jun;19(6):1619-1641. doi: 10.1080/15548627.2022.2160564. Epub 2023 Jan 3.
 

PubMed OpenAccess

2022

 

Wnt genes in colonic polyposis predisposition

 
Isabel Quintana, Mariona Terradas [...] Laura Valle. 
 
Genes Dis. 2022 Dec 29;10(3):753-757.
doi: 10.1016/j.gendis.2022.12.002. eCollection 2023 May.
 

PubMed OpenAccess

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

 
Suzanne E de Bruijn, Kim Rodenburg [...] Susanne Roosing. 
 
Genet Med. 2023 Mar;25(3):100345.
doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16.
 

PubMed OpenAccess

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.

 
Maria Elena Onore, Marco Savarese [...] Luisa Politano. 
 
Int J Mol Sci. 2022 Dec 14;23(24):15906.
doi: 10.3390/ijms232415906.
 

PubMed OpenAccess

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

 
David Pellerin, Matt C Danzi [...] Bernard Brais. 
 
N Engl J Med. 2023 Jan 12;388(2):128-141.
doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14.
 

PubMed OpenAccess

The 2023 version of the gene table of neuromuscular disorders (nuclear genome).

 
Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun.
 
Neuromuscul Disord. 2023 Jan;33(1):76-117. doi: 10.1016/j.nmd.2022.12.002. Epub 2022 Dec 6.
 

PubMed OpenAccess

Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.

 
Daniela Pasquali, Annalaura Torella [...] TUDP Study Group.
 
Am J Med Genet A. 2023 Mar;191(3):823-830.
doi: 10.1002/ajmg.a.63061. Epub 2022 Nov 24.
 

PubMed OpenAccess

Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.

 
Francesca Magrinelli , Clarissa Rocca [...] Kailash P Bhatia .
 
Mov Disord. 2023 Feb;38(2):347-353. doi: 10.1002/mds.29280.
Epub 2022 Nov 23.
 

PubMed OpenAccess

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

Adam Jackson, Celia Moss [...] Siddharth Banka.
Br J Dermatol. 2023 Jan 23;188(1):75-83. doi: 10.1093/bjd/ljac026.

PubMed OpenAccess

Germline mutations in WNK2 could be associated with serrated polyposis syndrome.

 
Yasmin Soares de Lima, Coral Arnau-Collell  [...] Sergi Castellvi-Bel.
 
J Med Genet. 2023 Jun;60(6):557-567.
doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21.
 

PubMed OpenAccess

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

 
Conrad C Weihl, Ana Töpf [...] Volker Straub.
 
Acta Neuropathol. 2023 Jan;145(1):127-143. doi: 10.1007/s00401-022-02510-8. Epub 2022 Oct 20.
 

PubMed OpenAccess

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

 
Bart P G H van der Sanden, Gaby Schobers [...] Lisenka E L M Vissers.
 
Eur J Hum Genet. 2023 Jan;31(1):81-88. doi: 10.1038/s41431-022-01185-9. Epub 2022 Sep 16.
 

PubMed OpenAccess

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

 
Anne Hebert, Annet Simons [...] Caspar I van der Made.
 
Elife. 2022 Oct 17:11:e78469. doi: 10.7554/eLife.78469
 

PubMed OpenAccess

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

 
Alexander J M Dingemans, Kim M G Truijen [...] Bert B A de Vries.
 
Transl Psychiatry. 2022 Oct 1;12(1):421. doi: 10.1038/s41398-022-02189-1.
 

PubMed OpenAccess

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.

Am J Hum Genet. 2022 Oct 6;109(10):1909-1922.
doi: 10.1016/j.ajhg.2022.08.008. Epub 2022 Aug 30.
 

PubMed OpenAccess

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.

Gastroenterology. 2022 Dec;163(6):1691-1694.e7.
doi: 10.1053/j.gastro.2022.08.041. Epub 2022 Aug 28.
 

PubMed OpenAccess

GA4GH Phenopackets: A Practical Introduction.

 

Markus S Ladewig, Julius O B Jacobsen [...] Peter N Robinson.

Adv Genet (Hoboken). 2022 Aug 25;4(1):2200016.
doi: 10.1002/ggn2.202200016. eCollection 2023 Mar.
 

PubMed OpenAccess

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.

Genome Med. 2022 Aug 19;14(1):96. doi: 10.1186/s13073-022-01100-3.
 

PubMed OpenAccess

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

 

Ferdinand Dhombres, Patricia Morgan [...] Peter N Robinson.

Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):231-242.
doi: 10.1002/ajmg.c.31989. Epub 2022 Jul 24.
 

PubMed OpenAccess

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.

Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14.
 

PubMed OpenAccess

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.

 

Gelana Khazeeva, Karolis Sablauskas [...] Christian Gilissen.

Nucleic Acids Res. 2022 Sep 23;50(17):e97. doi: 10.1093/nar/gkac511.
 

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 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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2021

 

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

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

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

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

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

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

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

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

The 2022 version of the gene table of neuromuscular disorders (nuclear genome).

 

Enzo Cohen, Gisèle Bonne, François Rivier, Dalil Hamroun.

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PubMed OpenAccess

Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.

 

May Yung Tiet1, Zhiyuan Lin, Fei Gao, Matthew James Jennings, Rita Horvath.

J Neuromuscul Disord. 2021;8(6):885-897.
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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 Sep 2;108(9):1564-1577.
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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.
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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.
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PubMed OpenAccess

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

 

Fabiana Longo, Daniele De Ritis [...] Francesca Maltecca .

Neurology.2021 Dec 7;97(23):e2315-e2327.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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PubMed OpenAccess

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

 

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Dev Med Child Neurol. 2021 Dec;63(12):1441-1447.
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PubMed OpenAccess

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

 

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

Genet Med. 2021 Nov;23(11):2138-2149. doi: 10.1038/s41436-021-01260-4. Epub 2021 Jul 9.
 

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.
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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.
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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.
 

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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.
 

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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

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

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PubMed OpenAccess

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

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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.
 

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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.
 

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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.
 

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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.
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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.
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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.
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PubMed OpenAccess

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

 

Antonio AtalaiaRabah Ben Yaou [...] Gisèle Bonne.

J Neuromuscul Dis. 2021;8(3):419-439. doi: 10.3233/JND-200596.
 

PubMed OpenAccess

The Treatabolome, an emerging concept.

 

Gisèle Bonne.

J Neuromuscul Dis. 2021;8(3):337-339. doi: 10.3233/JND-219003.
 

PubMed OpenAccess

Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.

 

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J Neuromuscul Dis. 2021;8(3):401-417. doi: 10.3233/JND-200621.
 

PubMed OpenAccess

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.

 

Matthew J JenningsAngela LochmüllerAntonio AtalaiaRita Horvath.

J Neuromuscul Dis. 2021;8(3):383-400. doi: 10.3233/JND-200546.
 

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.
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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.
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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.
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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.
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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.
 

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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
 

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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.
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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.
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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.
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PubMed OpenAccess

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

 

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

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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

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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.
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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.
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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.
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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.
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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.
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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.
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PubMed OpenAccess

Human disease genes website series: An international, open and dynamic library for up-to-date clinical information

 

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Am J Med Genet A. 2021 Apr;185(4):1039-1046.
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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.
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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
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PubMed OpenAccess

2020

 

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

 

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

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PubMed OpenAccess

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.

 

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

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

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. Epub 2020 Nov 22.

 

PubMed OpenAccess

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

 

Iris PaskeMarjolijn LigtenbergNicoline HoogerbruggeRicharda de Voer

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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.
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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.
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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

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

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

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

 

Annalaura TorellaMariateresa Zanobio, [...] Vincenzo Nigro

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PubMed OpenAccess

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

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

 

Antonio AtalaiaRachel Thompson, [...] 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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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

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

 

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Adv Genetics. 2020 Aug 10;1(1):e10023. doi: 10.1002/ggn2.10023. eCollection 2020 Dec.
 

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

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

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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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

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

 

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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

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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

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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

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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

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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

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PubMed OpenAccess

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

 

Yavuz OktaySerdal Güngör, [...] Rita Horvath 

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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.
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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

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

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

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

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

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

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

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

2019

 

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

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

Victoria TünglerMarion Doebler-Neumann [...] Min Ae Lee-Kirsch.

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

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

Defects in Axonal Transport in Inherited Neuropathies.

Danique BeijerAngela SistoJonas Van LentJonathan Baets, Vincent Timmerman

J Neuromuscul Dis. 2019;6(4):401-419. doi: 10.3233/JND-190427.
 

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

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

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

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

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

Giulia Coarelli, Rebecca Schule [...] Alexandra Durr. 

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

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

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

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

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

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

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

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

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

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

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.

 

PubMed

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

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

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

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

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

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

2018

 

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

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

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

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

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

Michiel Krols, Bob Asselbergh  [...] Sophie Janssens.

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

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

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

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

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