Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

• Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

  2025 Brain article Neuroscience Hereditary Neurological Disorders Open access

  12

  citations
• The GENESIS database and tools: A decade of discovery in Mendelian genomics

  2024 Experimental Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  6

  citations
• A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

  2024 Brain article Neuroscience Hereditary Neurological Disorders Open access

  4

  citations
• Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

  2023 Journal of Neurology Neurosurgery & Psychiatry article Medicine Amyotrophic Lateral Sclerosis Research Open access

  16

  citations
• Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts

  2023 European Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access

  12

  citations
• Deep structured learning for variant prioritization in Mendelian diseases

  2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  46

  citations
• Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

  2023 Brain article Neuroscience Hereditary Neurological Disorders Open access

  22

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

  2023 The Cerebellum article Neuroscience Genetic Neurodegenerative Diseases Open access

  13

  citations
• BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

  2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Endoplasmic Reticulum Stress and Disease Open access

  32

  citations
• RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

  2022 European Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access

  31

  citations
• Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort

  2021 Journal of the Neurological Sciences article Neuroscience Hereditary Neurological Disorders Open access

  12

  citations

11 results