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
TLR7 gain-of-function genetic variation causes human lupus	Grant Brown		PMID 04/27/2022 Nature
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population	Tadahiro Mitani		PMID 09/28/2021 American Journal of Human Genetics
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data	Haowei Du, Zain Dardas, Angad Jolly		PMID 12/28/2023 Nucleic Acids Research
Variant interpretation using population databases: Lessons from gnomAD	Sanna Gudmundsson	DOI 07/23/2021	PMID 08/01/2022 Human Mutation
seqr: A web-based analysis and collaboration tool for rare disease genomics	Lynn Pais	DOI 10/28/2021	PMID 03/21/2022 Human Mutation
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
Using a chat-based informed consent tool in large-scale genomic research	Sarah K Savage	DOI 01/24/2023	PMID 09/04/2023 Journal of the American Medical Informatics Association
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
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease	Daniel Calame	DOI 03/05/2023	PMID 08/03/2023 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 03/09/2023	PMID 08/25/2023 American Journal of Human Genetics
Inferring compound heterozygosity from large-scale exome sequencing data	Michael Guo, Laurent Francioli	DOI 03/23/2023	PMID 12/06/2023 Nature Genetics
Advancing Understanding of Inequities in Rare Disease Genomics	Jillian Serrano	DOI 03/29/2023	PMID 07/28/2023 Clinical Therapeutics
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis	Seth Berger	DOI 05/17/2023	PMID 05/17/2023 Clinical Genetics
The impact of the Turkish population variome on the genomic architecture of rare disease traits	Zeynep Coban-Akdemir	DOI 07/26/2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project	Sarah Stenton	DOI 08/04/2023