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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 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
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
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
Displaying 1 to 15 of 46 total records