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 Sort ascending	First author	Preprint	Publication
Exome CNV detection, analysis and curation across Broad cohorts	Gabrielle Lemire	DOI 10/05/2023
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy	Christine Bruels		PMID 06/23/2022 Annals of Clinical and Translational Neurology
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders	Yuyang Chen	DOI 04/09/2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project	Sarah Stenton	DOI 08/04/2023
Candidate Gene Recommendations	Jessica Chong	DOI 02/09/2024
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures	Christopher M. Grochowski	DOI 10/03/2023
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders	Daniel Calame	DOI 02/13/2024
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation via impairment of retrograde vesicular trafficking			PMID 11/01/2023 J Inherit Metab Dis
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions	Monica Wojcik	DOI 01/18/2023	PMID 08/03/2023 American Journal of Human Genetics
Advancing Understanding of Inequities in Rare Disease Genomics	Jillian Serrano	DOI 03/29/2023	PMID 07/28/2023 Clinical Therapeutics
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data	Moriel Singer-Berk	DOI 03/09/2023	PMID 08/25/2023 American Journal of Human Genetics
A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service	Ellie Seaby	DOI 02/01/2023	PMID 12/15/2023 Healthcare
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly	Moez Dawood		PMID 01/04/2023 American Journal of Medical Genetics Part A