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European Journal of Human Genetics : EJHG|June 20, 2025
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing lossHongfei Kang, Jingjing Li, Huikun Duan, et al.
European Journal of Human Genetics : EJHG|December 15, 2024
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between SLCO1B1 and statins and CYP2C9 and sulfonylureasDavid F G J Wolthuis, Marga Nijenhuis, Bianca Soree, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
European Journal of Human Genetics : EJHG|January 27, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic settingAida M Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, et al.
European Journal of Human Genetics : EJHG|February 20, 2025
Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complicationsNoriko Miyake, Kentaro Shiga, Yuya Hasegawa, et al.
European Journal of Human Genetics : EJHG|February 24, 2025
Preferences for genetic testing among populations underrepresented in genomic research: a systematic reviewTaylor Montgomery, Madison R Hickingbotham, Hadley Stevens Smith
European Journal of Human Genetics : EJHG|January 8, 2025
Predicting the phenotype of Pompe Disease from features of GAA variantsGeetanjali Rajamani, Nishitha R Pillai, Seth A Stafki, et al.
European Journal of Human Genetics : EJHG|January 4, 2025
C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN)Riyanka Kumari, Vikram V Holla, Neeharika Sriram, et al.
European Journal of Human Genetics : EJHG|January 4, 2025
Experiences of perinatal genetic screening for people from migrant and refugee backgrounds: a scoping reviewAnaita Kanga-Parabia, Alison D Archibald, Laura J Biggs, et al.
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