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.

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Title	First author Sort ascending	Preprint	Publication
The impact of the Turkish population variome on the genomic architecture of rare disease traits	Zeynep Coban-Akdemir	DOI 07/26/2023
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders	Yuyang Chen	DOI 04/09/2024
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
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA	Vijay Ganesh	DOI 02/07/2024
From variant to function in human disease genetics	Tuuli Lappalainen		PMID 09/24/2021 Science
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population	Tadahiro Mitani		PMID 09/28/2021 American Journal of Human Genetics
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis	Seth Berger	DOI 05/17/2023	PMID 05/17/2023 Clinical Genetics
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project	Sarah Stenton	DOI 08/04/2023
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
Variant interpretation using population databases: Lessons from gnomAD	Sanna Gudmundsson	DOI 07/23/2021	PMID 08/01/2022 Human Mutation
Impact of genome build on RNA-seq interpretation and diagnostics	Rachel Ungar	DOI 01/12/2024
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
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features	Morad Ansari, Kamli Faour	DOI 09/27/2023	PMID 01/30/2024 Human Genetics and Genomics Advances
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
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis	Monica H Wojcik	DOI 08/13/2023