Associated Papers
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Kerkhof J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome.
Yang Q et al.
Frontiers in Pediatrics, 2023
37351323 (PubMed )
Supplement: Datasheet1.xls › Table_S1
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM4_ESM.xlsx › Supplementary_Table_3
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33941880 (PubMed )
Supplement: NIHMS1700423-supplement-Supplementary_tables.xlsx › Table_S1
The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.
Hu X et al.
Bmc Medical Genomics, 2020
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.
Jiang Y et al.
Bmc Medical Genetics, 2019
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Boczek NJ et al.
American Journal of Medical Genetics. Part A, 2018
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