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2017 Thank you to our reviewers JOURNAL ARTICLE published April 2018 in Journal of Medical Genetics |
MG-141 A further report of paediatric cancer and cleidocranial dysplasia raises the possibility of a causative association of weak effect JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics |
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct JOURNAL ARTICLE published 6 July 2023 in Journal of Medical Genetics |
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy JOURNAL ARTICLE published April 2022 in Journal of Medical Genetics |
Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data JOURNAL ARTICLE published March 2019 in Journal of Medical Genetics |
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex JOURNAL ARTICLE published September 2022 in Journal of Medical Genetics Research funded by TSC Alliance (FY2020 TSC Alliance Postdoctoral Fellowship Award) | Engles Family Fund for Research in TSC and LAM (Engles Family Fund for Research in TSC and LAM) |
Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues JOURNAL ARTICLE published 1 July 2011 in Journal of Medical Genetics |
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations JOURNAL ARTICLE published May 2023 in Journal of Medical Genetics Research funded by Groupement des Entreprises Françaises dans la Lutte contre le Cancer (R18064EE) |
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis JOURNAL ARTICLE published July 2019 in Journal of Medical Genetics |
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions JOURNAL ARTICLE published May 2023 in Journal of Medical Genetics Research funded by National Natural Science Foundation of China (82141103) |
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases JOURNAL ARTICLE published January 2024 in Journal of Medical Genetics |
Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review JOURNAL ARTICLE published September 2019 in Journal of Medical Genetics |
Deregulation of EIF4E: a novel mechanism for autism JOURNAL ARTICLE published 1 November 2009 in Journal of Medical Genetics |
Mutations inciscan confound genotype-phenotype correlations in hypertrophic cardiomyopathy JOURNAL ARTICLE published 1 June 2001 in Journal of Medical Genetics |
Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort JOURNAL ARTICLE published November 2018 in Journal of Medical Genetics |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics |
Prevalence of Fabry disease-causing variants in the UK Biobank JOURNAL ARTICLE published April 2023 in Journal of Medical Genetics |
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function JOURNAL ARTICLE published February 2022 in Journal of Medical Genetics Research funded by Agence Nationale de la Recherche under the “Investissements d’avenir” program (ANR-10-IAHU-01) | Fondation Maladies Rares, and the European Union’s Horizon 2020 research and innovation programme under Marie Skłodowska-Curie grant agreement (Neucrest860635) |
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success JOURNAL ARTICLE published February 2013 in Journal of Medical Genetics |
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia JOURNAL ARTICLE published November 2023 in Journal of Medical Genetics Research funded by Nederlandse Organisatie voor Wetenschappelijk Onderzoek ((NWO, 724.016.003).) |