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 |
|---|---|---|---|
| Expanding the phenotype ofPPP1R21-relatedneurodevelopmental disorder | Mohammed Almannai | PMID Clinical Genetics |
|
| Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features | Morad Ansari, Kamli Faour | DOI |
PMID Human Genetics and Genomics Advances |
| 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 |
|
| HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data | Haowei Du, Zain Dardas, Angad Jolly | PMID Nucleic Acids Research |
|
| A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service | Ellie Seaby | DOI |
PMID Healthcare |
| Inferring compound heterozygosity from large-scale exome sequencing data | Michael Guo, Laurent Francioli | DOI |
PMID Nature Genetics |
| Biallelic missense variants in COG3 cause a congenital disorder of glycosylation via impairment of retrograde vesicular trafficking | PMID J Inherit Metab Dis |
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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 |
| 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 |
| RARB-related cerebral palsy | PMID Genet Med |
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| The complete sequence of a human Y chromosome | Arang Rhie | PMID Nature |
|
| 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 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions | Monica Wojcik | DOI |
PMID American Journal of Human 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 |