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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 (link is external)this PubMed query.

This information was last compiled on 1/13/2025 and is updated here quarterly: Since 2021 (the GREGoR Consortium’s inception), GREGoR publications have been cited in 1,361 papers. For more detailed publication metrics, please refer to (link is external)GREGoR’s iCite results. Hover over the column headings for a definition of each of these: Total Pubs, Pubs Per Year, Cites Per Year, Relative Citation Ratio (RCR), Weighted RCR.

Click on column labels to sort the table accordingly.

Title First author Preprint Publication
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection Shloka Negi (link is external)DOI
(link is external)PMID

American Journal of Human Genetics
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder Gazelle Zerafati-Jahromi (link is external)PMID

The American Journal of Human Genetics
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets Ben Weisburd (link is external)DOI
(link is external)PMID

Genetics in Medicine
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations Moez Dawood (link is external)DOI
(link is external)PMID

Genome Medicine
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation (link is external)DOI
(link is external)PMID

Genome Research
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia Scott Barish (link is external)PMID

The American Journal of Human Genetics
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA Vijay Ganesh (link is external)DOI
(link is external)PMID

New England Journal of Medicine
De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome Miriam Bertrand (link is external)PMID

Mol Syndromol.
A genome-wide spectrum of tandem repeat expansions in 338,963 humans Ya Cui (link is external)PMID

Cell
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants Francesca Furia (link is external)DOI
(link is external)PMID

Clinical Genetics
Detection of mosaic and population-level structural variants with Sniffles2 (link is external)PMID

Nature Biotechnology
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases Clara van Karnebeek (link is external)PMID

Orphanet J Rare Disease
CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease Takayasu Mori (link is external)DOI
(link is external)PMID

Kidney International Reports
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders Daniel Calame (link is external)DOI
(link is external)PMID

Genet Med
Impact and characterization of serial structural variations across humans and great apes (link is external)PMID

Nature Communications
Displaying 1 to 15 of 113 total records