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Please note the final planned GREGoR website downtime in April:

  • Friday, April 19  at 5 pm PT to Monday April 22 at 8 am PT (63 hours)

During this time the GREGoR website will be down and users will be unable to log into the DCC's AnVIL management web app to link their AnVIL accounts. Please contact the DCC at if you have questions or need help during the downtime.


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 Publication
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders Afshin Saffari PMID

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain Laura Keehan PMID

American Journal of Medical Genetics Part A
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models Kiana Mohajeri PMID

American Journal of Human Genetics
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis Xuyu Qian PMID

Developmental Cell
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats Egor Dolzhenko PMID

Genome Medicine
Variant interpretation using population databases: Lessons from gnomAD Sanna Gudmundsson DOI

Human Mutation
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes Marcello Scala PMID

Recommendations for clinical interpretation of variants found in non-coding regions of the genome Jamie Ellingford PMID

Genome Medicine
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy Christine Bruels PMID

Annals of Clinical and Translational Neurology
TLR7 gain-of-function genetic variation causes human lupus Grant Brown PMID

seqr: A web-based analysis and collaboration tool for rare disease genomics Lynn Pais DOI

Human Mutation
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population Tadahiro Mitani PMID

American Journal of Human Genetics
From variant to function in human disease genetics Tuuli Lappalainen PMID

Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation DOI
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders Daniel Calame DOI
Displaying 16 to 30 of 38 total records