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Case Reports in Genetics|January 9, 2026
Identification of a Novel DNAAF3 Variant in a 54-Year-Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)Mirja M Wirtz, Sabine Ebner, Anna Pleyers, et al.
Case Reports in Genetics|October 17, 2025
Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency ThickeningBondarenko Maya, Nikolenko Marharyta, Dutchak Anastasiia, et al.
Case Reports in Genetics|October 9, 2025
An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and OutcomeSharon Anderson, Milen Velinov
Case Reports in Genetics|August 5, 2025
Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case ReportDavid Lee Curtis, Nasim Bekheirnia, Lorraine Potocki, et al.
Case Reports in Genetics|December 5, 2024
A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 HaploinsufficiencyTing Wen, Brian J Shayota, Lauren Wallace, et al.
Case Reports in Genetics|August 26, 2024
A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation AnalysisDaigo Nishijo, Hiroki Yagi, Nana Akiyama, et al.
Case Reports in Genetics|January 8, 2024
A Novel SPAST Variant Associated with Isolated Spastic ParaplegiaHelle Høyer, Ola Nakken, Trygve Holmøy
Case Reports in Genetics|November 29, 2023
A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA ScreeningMelissa A Hicks, Emilie Lalonde, Jessica Zoladz, et al.
Case Reports in Genetics|May 17, 2024
Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein-Barr VirusGaoyan G Tang-Siegel, David W Maughan, Milah B Frownfelter, et al.
Case Reports in Genetics|November 10, 2023
Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature ReviewKhaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, et al.
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