Associated Papers
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
Guo J et al.
Human Genomics, 2025
40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1
Identification of genetic factors underlying severe retinopathy of prematurity in preterm infants.
Sun H et al.
Molecular Vision, 2025
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
28993730 (PubMed )
Supplement: Table3.xlsx › Germline
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