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HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
American Journal of Medical Genetics. Part A|May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disordersLauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 13, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data setsBen Weisburd, Rakshya Sharma, Villem Pata, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Brain : a Journal of Neurology|November 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal modelLein N H Dofash, Lee B Miles, Yoshihiko Saito, et al.
Nature Communications|February 19, 2021
POLRMT mutations impair mitochondrial transcription causing neurological diseaseMonika Oláhová, Bradley Peter, Zsolt Szilagyi, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
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