Associated Papers
Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer.
De Falco A et al.
American Journal of Medical Genetics. Part A, 2025
The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum.
Shokrollahi N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Albokhari D et al.
American Journal of Medical Genetics. Part A, 2023
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
35586607 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.
Kohaar I et al.
Nature Communications, 2022
35292633 (PubMed )
Supplement: 41467_2022_28945_MOESM6_ESM.xls › Supplementary_Table_3
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable1_Reported
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