Scientific publications


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


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

Somatic mutational signatures in polyposis and colorectal cancer.

Grolleman JE, Díaz-Gay M, Franch-Expósito S, Castellví-Bel S, de Voer RM.

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

PubMed OpenAccess

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Schwarz JM, Hombach D, Köhler S, Cooper DN, Schuelke M, Seelow D.

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.

Thompson R, Papakonstantinou Ntalis A, Beltran S, Töpf A, de Paula Estephan E, Polavarapu K, 't Hoen PAC, Missier P, Lochmüller H

Hum Mutat. 2019 Jun 23. doi: 10.1002/humu.23792. [Epub ahead of print]

PubMed OpenAccess

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

Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, ... and Hoischen A.

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

PubMed OpenAccess

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

Merlini L, Sabatelli P, Antoniel M, Carinci V, Niro F, Monetti G, Torella A, Giugliano T, Faldini C, Nigro V.

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

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

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

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A.

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.

Mantere T, Kersten S, Hoischen A.

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

PubMed OpenAccess

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, ... and Faghihi MA.

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.

Boutry M, Morais S, Stevanin G.

Curr Neurol Neurosci Rep. 2019 Feb 28;19(4):18. doi: 10.1007/s11910-019-0930-2.

PubMed OpenAccess

Phenotero: Annotate as you write.

Hombach D, Schwarz JM, Knierim E, Schuelke M, Seelow D, Köhler S.

Clin Genet. 2019 Feb;95(2):287-292. doi: 10.1111/cge.13471. Epub 2018 Dec 7.

PubMed OpenAccess

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

Krols M, Asselbergh B, De Rycke R, De Winter V, Seyer A, Müller FJ, Kurth I, Bultynck G, Timmerman V, Janssens S.

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.

Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, ... and De Jonghe P.

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.

Haidar M, Asselbergh B, Adriaenssens E, De Winter V, Timmermans JP, Auer-Grumbach M, Juneja M, Timmerman V

Autophagy. 2019 Jan 23:1-18. doi: 10.1080/15548627.2019.1569930.

PubMed OpenAccess

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

Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ.

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

PubMed OpenAccess

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

Juneja M, Burns J, Saporta MA, Timmerman V.

J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):58-67. doi: 10.1136/jnnp-2018-318834. Epub 2018 Jul 17.

PubMed OpenAccess

Targeted therapies for congenital myasthenicsyndromes: systematic review and steps towardsa treatabolome.

Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller

Emerging Topics in Life Sciences 2019,

PubMed OpenAccess

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

Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, ... and Robinson PN.

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

PubMed OpenAccess


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

Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R.

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

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.

Yahia A, Elsayed L, Babai A, Salih MA, El-Sadig SM, Amin M, Koko M, Abubakr R, Idris R, Taha SOMA, Elmalik SA, Brice A, Ahmed AE, Stevanin G.

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

PubMed OpenAccess

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

Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime and Hanns Lochmüller

Orphanet Journal of Rare Diseases 2018 13:211,

PubMed OpenAccess

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

Köhler S.

Database (Oxford). 2018 Jan 1;2018. doi: 10.1093/database/bay026. PMID: 29688377.

PubMed OpenAccess