Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.
Thakare S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies.
Bakhuizen JJ et al.
European Journal of Cancer (oxford, England : 1990), 2025
APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity.
Aytekin ES et al.
Scandinavian Journal of Immunology, 2023
Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.
Hasenmajer V et al.
Reviews in Endocrine & Metabolic Disorders, 2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Robichaud PP et al.
Bmc Medical Genomics, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers.
Weiler FG et al.
Clinical Immunology (orlando, Fla.), 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.
Orlova EM et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
[Autoimmune polyendocrine syndrome type 1: clinical features and course in France].
Wemeau JL et al.
Bulletin De L'academie Nationale De Medecine, 2013