ArticleNPJ genomic medicine2019
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in
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Article in NPJ genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 39 citations in OpenAlex.
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- Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders.Genome medicine · 2025Article
- Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome.JCI insight · 2025Article
- Human introns contain conserved tissue-specific cryptic poison exons.NAR genomics and bioinformatics · 2024Article
- Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.Journal of human genetics · 2024Article
- Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical Trials.Pharmaceutical medicine · 2024Review
- Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.Nature communications · 2023Article
- The status of the human gene catalogue.Nature · 2023Review
- Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.Human genetics · 2023Article
- Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- The status of the human gene catalogue.ArXiv · 2023Article
- Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.bioRxiv : the preprint server for biology · 2023Article
- Pharmacological diversity amongst approved and emerging antiseizure medications for the treatment of developmental and epileptic encephalopathies.Therapeutic advances in neurological disorders · 2023Review
- Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.Frontiers in pediatrics · 2023Article
- Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.BMC bioinformatics · 2022Article
- Loss-of-function variants inJournal of medical genetics · 2022Article
- Review
- Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.Cells · 2021Review
- GENCODE 2021.Nucleic acids research · 2021Article
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Authors and funding
36 authors at 20 institutions in 10 countries.
Charles A Steward *Congenica Ltd, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1DR UK.ORCID 0000-0001-8829-5349
Jolien Roovers *3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.
Marie-Marthe Suner2Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA UK.ORCID 0000-0002-0380-7171
Jose M Gonzalez2Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA UK.
Barbara Uszczynska-Ratajczak6Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain.ORCID 0000-0003-0150-3841
Dmitri PervouchineSkolkovo Institute for Science and Technology 3 Nobel St., Skolkovo Innovation Centre, Moscow, Russia.
Stephen Fitzgerald2Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA UK.
Margarida Viola3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.ORCID 0000-0001-6577-3520
Hannah Stamberger3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.
Fadi F Hamdan11Molecular Diagnostic Laboratory and Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, H3T 1C5 Canada.
Berten Ceulemans12Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.
Patricia LeroyDepartment of Neuropediatrics, CHR Citadelle, CHU Sart-Tilman, Liège, Belgium.
Caroline Nava14Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Anne Lepine16Pediatric Neurology Department, Timone Hospital, APHM, Marseille, France.
Electra Tapanari2Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA UK.
Don Keiller17Anglia Ruskin University, Cambridge, CB1 1PT UK.
Stephen Abbs18Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ UK.
Alba Sanchis-Juan19Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, CB2 0PT UK.
Detelina Grozeva20Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY UK.
Anthony S RogersCongenica Ltd, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1DR UK.
Mark Diekhans21Center for Biomolecular Science and Engineering, University of California, Santa Cruz, CA USA.ORCID 0000-0002-0430-0989
Roderic Guigó6Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain.
Robert Petryszak5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD UK.
Berge A Minassian22The Hospital for Sick Children, Toronto, Canada.
Gianpiero Cavalleri24The FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin, Ireland.
Dimitrios Vitsios25Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, Cambridge, CB2 0AA UK.
Slavé Petrovski25Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, Cambridge, CB2 0AA UK.
Jennifer Harrow2Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA UK.
Paul Flicek5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD UK.ORCID 0000-0002-3897-7955
F Lucy Raymond20Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY UK.
Nicholas J LenchCongenica Ltd, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1DR UK.
Peter De Jonghe3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.
Jonathan M Mudge2Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA UK.
Sarah Weckhuysen3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.
Sanjay M Sisodiya28Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG UK.
Adam Frankish2Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA UK.
European Bioinformatics Institute · GBUniversity of Antwerp · BEWellcome Sanger Institute · GBAstraZeneca (United Kingdom) · GBUniversitat Pompeu Fabra · ESUniversity of Cambridge · GBAnglia Ruskin University · GBAntwerp University Hospital · BECambridge University Hospitals NHS Foundation Trust · GBCentre hospitalier régional de la Citadelle · BECentre Hospitalier Universitaire Sainte-Justine · CACentre National de la Recherche Scientifique · FREpilepsy Research UK · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBHôpital de la Timone · FRHospital for Sick Children · CANHS Blood and Transplant · GBRoyal College of Surgeons in Ireland · IESkolkovo Institute of Science and Technology · RUUniversity of California, Santa Cruz · US
Funding
GENCODE Resource ProjectU41HG007234 · NHGRI · SANGER INSTITUTE · PI FLICEK, PAUL · 2013 to 2020
$20.3MNHGRI NIH HHS U41 HG007234Wellcome Trust
Abstract
The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. Here, we explore the incompleteness of transcript models used for exome and genome analysis as one potential explanation for a lack of current diagnoses. Therefore, we have updated the GENCODE gene annotation for 191 epilepsy-associated genes, using human brain-derived transcriptomic libraries and other data to build 3,550 putative transcript models. Our annotations increase the transcriptional 'footprint' of these genes by over 674 kb. Using
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