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European Journal of Human Genetics : EJHG|June 24, 2025
Houge-Janssens syndromeGunnar Douzgos Houge, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.Frontiers in Genetics|September 20, 2021
The Role of the European Society of Human Genetics in Delivering Genomic EducationEdward S Tobias, Elena Avram, Patricia Calapod, et al.HGG Advances|May 1, 2026
Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunctionSofia Douzgou Houge, Cecilie Bredrup, Ragnhild Wivestad Jansson, et al.European Journal of Medical Genetics|October 7, 2024
Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task forceFaye H Chen, Adam L Hartman, Mary Catherine V Letinturier, et al.Therapeutic Advances in Rare Disease|March 26, 2026
Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task forceMelissa A Parisi, Adam L Hartman, Mary Catherine V Letinturier, et al.Journal of Community Genetics|July 1, 2026
Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025Angus Clarke, Ruth Horn, Elena Avram, et al.Genome Medicine|May 12, 2026
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disordersBeatrice Valtorta, Zuzana Polackova, Reza Maroofian, et al.European Journal of Human Genetics : EJHG|September 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probandsAllan Bayat, Maria Carla Borroto, Smrithi Salian, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2024
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseasesJennifer Kerkhof, Cassandra Rastin, Michael A Levy, 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.Pageof 2