Associated Papers
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.
Narikot A et al.
Bmc Nephrology, 2022
34979951 (PubMed )
Supplement: 12882_2021_2628_MOESM2_ESM.xlsx › Table_S4
Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.
Bartik ZI et al.
Plos One, 2022
36417404 (PubMed )
Supplement: pone.0277524.s006.xlsx › Supplemental_table_S4
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Drury S et al.
Prenatal Diagnosis, 2015
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