Associated Papers
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study.
Berghuis D et al.
Journal of Clinical Immunology, 2024
SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
Šikrová D et al.
Communications Biology, 2023
37380887 (PubMed )
Supplement: 42003_2023_5053_MOESM2_ESM.pdf
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1.
Kraft MT et al.
Journal of Clinical Immunology, 2021
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn J et al.
Immunologic Research, 2020
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
van den Boogaard ML et al.
American Journal of Human Genetics, 2016
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM et al.
European Journal of Human Genetics : Ejhg, 2013
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