A list of publications citing one or more GREGoR grants, or listing the GREGoR Consortium as a banner author is available via this PubMed query.
Click on column labels to sort the table accordingly.
| Title | First author | Preprint | Publication Sort ascending |
|---|---|---|---|
| The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders | Afshin Saffari | PMID Brain |
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| A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly | Moez Dawood | PMID American Journal of Medical Genetics Part A |
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| Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain | Laura Keehan | PMID American Journal of Medical Genetics Part A |
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| Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models | Kiana Mohajeri | PMID American Journal of Human Genetics |
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| Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis | Xuyu Qian | PMID Developmental Cell |
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| REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats | Egor Dolzhenko | PMID Genome Medicine |
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| Variant interpretation using population databases: Lessons from gnomAD | Sanna Gudmundsson | DOI |
PMID Human Mutation |
| Recommendations for clinical interpretation of variants found in non-coding regions of the genome | Jamie Ellingford | PMID Genome Medicine |
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| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes | Marcello Scala | PMID Brain |
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| Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy | Christine Bruels | PMID Annals of Clinical and Translational Neurology |
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| TLR7 gain-of-function genetic variation causes human lupus | Grant Brown | PMID Nature |
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| seqr: A web-based analysis and collaboration tool for rare disease genomics | Lynn Pais | DOI |
PMID Human Mutation |
| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population | Tadahiro Mitani | PMID American Journal of Human Genetics |
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| From variant to function in human disease genetics | Tuuli Lappalainen | PMID Science |
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| Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |