Scientific publications



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



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



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.

Neuromuscul Disord. 2021 Dec;31(12):1313-1357. doi: 10.1016/j.nmd.2021.11.004.

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.
doi: 10.3233/JND-210715.

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.
doi: 10.1016/j.ajhg.2021.06.014. Epub 2021 Jul 21.

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

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Defects in Axonal Transport in Inherited Neuropathies.

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

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RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

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

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

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

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

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

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

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

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

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

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