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 |
|---|---|---|---|
| The landscape of regional missense mutational intolerance quantified from 125,748 exomes | Katherine Chao, Lily Wang | DOI |
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| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders | Yuyang Chen | DOI |
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| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation | DOI |
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| Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders | Daniel Calame | DOI |
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| Candidate Gene Recommendations | Jessica Chong | DOI |
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| Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA | Vijay Ganesh | DOI |
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| Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. | DOI |
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| Impact of genome build on RNA-seq interpretation and diagnostics | Rachel Ungar | DOI |
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| Exome CNV detection, analysis and curation across Broad cohorts | Gabrielle Lemire | DOI |
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| Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures | Christopher M. Grochowski | DOI |
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| Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features | Morad Ansari, Kamli Faour | DOI |
PMID Human Genetics and Genomics Advances |
| Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency | Marina Villamor-Paya | DOI |
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| Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis | Monica H Wojcik | DOI |
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| Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | Sarah Stenton | DOI |
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| Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis | Seth Berger | DOI |
PMID Clinical Genetics |