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Publications

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Title First author Preprint Publication
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
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
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features Morad Ansari DOI
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis Monica H Wojcik DOI
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project Sarah Stenton DOI
Inferring compound heterozygosity from large-scale exome sequencing data Michael Guo, Laurent Francioli DOI
A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service Ellie Seaby DOI