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European Journal of Human Genetics : EJHG|March 31, 2023
Immortal data: a qualitative exploration of patients' understandings of genomic dataKate Lyle, Susie Weller, Rachel Horton, et al.
European Journal of Human Genetics : EJHG|April 4, 2023
Deciphering the genetic structure of the Quebec founder population using genealogiesLaurence Gagnon, Claudia Moreau, Catherine Laprise, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2Marlinde L van den Boogaard, Richard J F L Lemmers, Pilar Camaño, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosisFlorence Petit, Anne-Sophie Jourdain, Muriel Holder-Espinasse, et al.
European Journal of Human Genetics : EJHG|August 12, 2020
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parentsDinka Smajlagić, Ksenia Lavrichenko, Siren Berland, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Correction: gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European studyDaniel Moreno-Mendoza, Elena Casamonti, Donatella Paoli, et al.
European Journal of Human Genetics : EJHG|April 7, 2021
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasiaShereen G Ghosh, Martin W Breuss, Zinayida Schlachetzki, et al.
European Journal of Human Genetics : EJHG|April 7, 2021
Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysmYang Li, Yu Kong, Weixun Duan, et al.
European Journal of Human Genetics : EJHG|April 12, 2021
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosisBryn D Webb, Hilary Hotchkiss, Pankaj Prasun, et al.
European Journal of Human Genetics : EJHG|April 12, 2021
Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implicationsAlexander O'Brien, Wen Yih Aw, Hui Yi Tee, et al.
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