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European Journal of Human Genetics : EJHG|March 26, 2024
Evaluation of a two-step model of opportunistic genomic screeningMelissa Martyn, Ling Lee, Alli Jan, et al.
European Journal of Human Genetics : EJHG|September 14, 2023
Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohortMatilda A Haas, Evanthia O Madelli, Rosie Brown, et al.
European Journal of Human Genetics : EJHG|September 8, 2023
Variants in EFCAB7 underlie nonsyndromic postaxial polydactylyMuhammad Bilal, Hammal Khan, Muhammad Javed Khan, et al.
European Journal of Human Genetics : EJHG|August 11, 2023
Record-matching of STR profiles with fragmentary genomic SNP dataJaehee Kim, Noah A Rosenberg
European Journal of Human Genetics : EJHG|January 10, 2024
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorderFatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, et al.
European Journal of Human Genetics : EJHG|January 4, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemiaMonica Traverso, Serena Baratto, Michele Iacomino, et al.
European Journal of Human Genetics : EJHG|December 15, 2023
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South AfricaKimberly Christine Coetzer, Ekkehard Zöllner, Shahida Moosa
European Journal of Human Genetics : EJHG|December 19, 2023
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from IndiaShruti Pande, Purvi Majethia, Karthik Nair, et al.
European Journal of Human Genetics : EJHG|December 14, 2023
Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic reviewSaar van Pottelberghe, Nina Kupper, Esther Scheirlynck, et al.
European Journal of Human Genetics : EJHG|December 5, 2023
Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndromeShuqian Dong, Tongdan Zou, Fangyuan Zhen, et al.
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