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 Sort descending | Publication |
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Expanding the phenotype ofPPP1R21-relatedneurodevelopmental disorder | Mohammed Almannai | PMID Clinical 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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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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Variant interpretation using population databases: Lessons from gnomAD | Sanna Gudmundsson | DOI |
PMID Human Mutation |
seqr: A web-based analysis and collaboration tool for rare disease genomics | Lynn Pais | DOI |
PMID Human Mutation |
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions | Monica Wojcik | DOI |
PMID American Journal of Human Genetics |
Using a chat-based informed consent tool in large-scale genomic research | Sarah K Savage | DOI |
PMID Journal of the American Medical Informatics Association |
A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service | Ellie Seaby | DOI |
PMID Healthcare |
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease | Daniel Calame | DOI |
PMID American Journal of Human Genetics |
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data | Moriel Singer-Berk | DOI |
PMID American Journal of Human Genetics |
Inferring compound heterozygosity from large-scale exome sequencing data | Michael Guo, Laurent Francioli | DOI |
PMID Nature Genetics |
Advancing Understanding of Inequities in Rare Disease Genomics | Jillian Serrano | DOI |
PMID Clinical Therapeutics |
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis | Seth Berger | DOI |
PMID Clinical Genetics |
The impact of the Turkish population variome on the genomic architecture of rare disease traits | Zeynep Coban-Akdemir | DOI |
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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |