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European Journal of Human Genetics : EJHG|November 27, 2023
Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescueBushra Haque, David Cheerie, Saba Birkadze, et al.
European Journal of Human Genetics : EJHG|January 22, 2024
Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creationLakmal Gonawala, Nalaka Wijekoon, Darshika Attanayake, et al.
European Journal of Human Genetics : EJHG|December 8, 2023
Glowing gels and pipettes aplenty: how do commercial stock image banks portray genetic tests?Rachel Horton, Leah Boyle, Susie Weller, et al.
European Journal of Human Genetics : EJHG|March 15, 2024
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysisEnrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, et al.
European Journal of Human Genetics : EJHG|March 12, 2024
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disabilityLea Urpa, Mitja I Kurki, Elisa Rahikkala, et al.
European Journal of Human Genetics : EJHG|April 11, 2024
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elementsThomas W Laver, Matthew N Wakeling, Richard C Caswell, et al.
European Journal of Human Genetics : EJHG|April 11, 2024
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disordersEdoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, et al.
European Journal of Human Genetics : EJHG|April 3, 2024
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of CYP2C9, HLA-A and HLA-B with anti-epileptic drugsLisanne E N Manson, Marga Nijenhuis, Bianca Soree, et al.
European Journal of Human Genetics : EJHG|February 29, 2024
Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world settingAmanda Massmann, Kurt D Christensen, Joel Van Heukelom, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainabilityAlan Ma, Rosie O'Shea, Laura Wedd, et al.
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