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Publications

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
Expanding the phenotype ofPPP1R21-relatedneurodevelopmental disorder Mohammed Almannai PMID

Clinical Genetics
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
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
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
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project Sarah Stenton DOI
Displaying 16 to 30 of 43 total records