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 Sort descending | Preprint | Publication |
|---|---|---|---|
| Recommendations for clinical interpretation of variants found in non-coding regions of the genome | Jamie Ellingford | PMID Genome Medicine |
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| Candidate Gene Recommendations | Jessica Chong | DOI |
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| Advancing Understanding of Inequities in Rare Disease Genomics | Jillian Serrano | DOI |
PMID Clinical Therapeutics |
| The landscape of regional missense mutational intolerance quantified from 125,748 exomes | Katherine Chao, Lily Wang | DOI |
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| Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort | Kerith-Rae Dias | PMID Genetics in Medicine |
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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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| 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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| seqr: A web-based analysis and collaboration tool for rare disease genomics | Lynn Pais | DOI |
PMID Human Mutation |
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes | Marcello Scala | PMID Brain |
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| Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency | Marina Villamor-Paya | DOI |
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| Inferring compound heterozygosity from large-scale exome sequencing data | Michael Guo, Laurent Francioli | DOI |
PMID Nature Genetics |
| 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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| Expanding the phenotype ofPPP1R21-relatedneurodevelopmental disorder | Mohammed Almannai | PMID Clinical Genetics |
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| Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis | Monica H Wojcik | DOI |
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| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions | Monica Wojcik | DOI |
PMID American Journal of Human Genetics |