ArticleNPJ genomic medicine2016
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
Article in NPJ genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 56 citations in OpenAlex.
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- Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.European journal of human genetics : EJHG · 2026Article
- The Golgi apparatus: adaptations to neuronal shape and functions.The EMBO journal · 2026Review
- ARF1-Related Diseases in China: The Initial Study of Phenotype and Molecular Profile.Journal of cellular and molecular medicine · 2025Article
- Arf1 and ARFGEF2/Sec71 control neuroblast polarity by anchoring nonmuscle myosin II.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- TBC1D23 mediates Golgi-specific LKB1 signaling.Nature communications · 2024Article
- Expression analysis of type I ARF small GTPases ARF1-3 during mouse brain development.Molecular biology reports · 2024Article
- ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.Nature communications · 2023Article
- Article
- Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.Molecular genetics & genomic medicine · 2023Review
- A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.Human molecular genetics · 2023Article
- Intracellular traffic and polarity in brain development.Frontiers in neuroscience · 2023Review
- Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development.Nature communications · 2022Article
- Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.Nature communications · 2022Article
- De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.American journal of medical genetics. Part A · 2022Article
- The GTPase Arf1 Is a Determinant of Yeast Vps13 Localization to the Golgi Apparatus.International journal of molecular sciences · 2021Article
- Neuronal accumulation of peroxidated lipids promotes demyelination and neurodegeneration through the activation of the microglial NLRP3 inflammasome.Nature aging · 2021Article
- Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.BMC medical genomics · 2021Article
- Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.Genome medicine · 2021Article
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association. To improve variant prioritisation, we leverage population exome data to identify intragenic missense-depleted regions (MDRs) genome-wide that may be important in disease. We then use missense depletion analyses to help prioritise undiagnosed disease exome variants. We demonstrate application of this strategy to identify a novel gene association for human brain malformation. We identified
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