Associated Papers
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S et al.
American Journal of Human Genetics, 2022
Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome.
Pan X et al.
Frontiers in Genetics, 2022
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Au PYB et al.
European Journal of Human Genetics : Ejhg, 2018
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
Dentici ML et al.
Clinical Genetics, 2018
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
Lange L et al.
Clinical Genetics, 2016
Select a paper to view details