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 |
|---|---|---|---|
| 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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| A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service | Ellie Seaby | DOI |
PMID Healthcare |
| 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 |
| Advancing Understanding of Inequities in Rare Disease Genomics | Jillian Serrano | DOI |
PMID Clinical Therapeutics |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions | Monica Wojcik | DOI |
PMID American Journal of Human 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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| Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders | Daniel Calame | DOI |
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| Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures | Christopher M. Grochowski | DOI |
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| Candidate Gene Recommendations | Jessica Chong | DOI |
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| Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |
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| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders | Yuyang Chen | DOI |
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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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| Exome CNV detection, analysis and curation across Broad cohorts | Gabrielle Lemire | DOI |
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| Expanding the phenotype ofPPP1R21-relatedneurodevelopmental disorder | Mohammed Almannai | PMID Clinical Genetics |
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| From variant to function in human disease genetics | Tuuli Lappalainen | PMID Science |