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European Journal of Human Genetics : EJHG|May 5, 2016
Genetic variants in RBFOX3 are associated with sleep latencyNajaf Amin, Karla V Allebrandt, Ashley van der Spek, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkGaluh D N Astuti, Mette Bertelsen, Markus N Preising, et al.
European Journal of Human Genetics : EJHG|February 18, 2016
Heritability of non-speech auditory processing skillsCarmen C Brewer, Christopher K Zalewski, Kelly A King, et al.
European Journal of Human Genetics : EJHG|November 26, 2015
DNM1L-related mitochondrial fission defect presenting as refractory epilepsyJason R Vanstone, Amanda M Smith, Skye McBride, et al.
European Journal of Human Genetics : EJHG|July 28, 2022
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variantEsra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, et al.
European Journal of Human Genetics : EJHG|June 28, 2018
Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical casesAnibal Bueno, Rocío Rodríguez-López, Armando Reyes-Palomares, et al.
European Journal of Human Genetics : EJHG|June 22, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel functionMatthis Synofzik, Katherine L Helbig, Florian Harmuth, et al.
European Journal of Human Genetics : EJHG|October 2, 2019
One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variantsMaria Weronika Gutowska-Ding, Zandra C Deans, Christophe Roos, et al.
European Journal of Human Genetics : EJHG|October 2, 2019
GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?Juliette Schuurmans, Erwin Birnie, Adelita V Ranchor, et al.
European Journal of Human Genetics : EJHG|October 2, 2019
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosisTobias Fleige, Siegfried Burggraf, Ludwig Czibere, et al.
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