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 ascending	Publication
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis	Seth Berger	DOI 05/17/2023	PMID 05/17/2023 Clinical Genetics
Advancing Understanding of Inequities in Rare Disease Genomics	Jillian Serrano	DOI 03/29/2023	PMID 07/28/2023 Clinical Therapeutics
Inferring compound heterozygosity from large-scale exome sequencing data	Michael Guo, Laurent Francioli	DOI 03/23/2023	PMID 12/06/2023 Nature 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
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
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
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
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
seqr: A web-based analysis and collaboration tool for rare disease genomics	Lynn Pais	DOI 10/28/2021	PMID 03/21/2022 Human Mutation
Variant interpretation using population databases: Lessons from gnomAD	Sanna Gudmundsson	DOI 07/23/2021	PMID 08/01/2022 Human Mutation
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain	Laura Keehan		PMID 12/01/2022 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 10/13/2022 Developmental Cell
Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort	Kerith-Rae Dias		PMID 01/19/2024 Genetics in Medicine
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes	Marcello Scala		PMID 07/19/2022 Brain
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