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 Sort descending | First author | Preprint | Publication |
|---|---|---|---|
| seqr: A web-based analysis and collaboration tool for rare disease genomics | Lynn Pais | DOI |
PMID Human Mutation |
| The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders | Afshin Saffari | PMID Brain |
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| The complete sequence of a human Y chromosome | Arang Rhie | PMID Nature |
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| The impact of the Turkish population variome on the genomic architecture of rare disease traits | Zeynep Coban-Akdemir | DOI |
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| The landscape of regional missense mutational intolerance quantified from 125,748 exomes | Katherine Chao, Lily Wang | DOI |
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| TLR7 gain-of-function genetic variation causes human lupus | Grant Brown | PMID Nature |
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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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| Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis | Monica H Wojcik | DOI |
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| Using a chat-based informed consent tool in large-scale genomic research | Sarah K Savage | DOI |
PMID Journal of the American Medical Informatics Association |
| Variant interpretation using population databases: Lessons from gnomAD | Sanna Gudmundsson | DOI |
PMID Human Mutation |
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes | Marcello Scala | PMID Brain |
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| Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. | DOI |
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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 |