Associated Papers
Bartter-Like Renal Phenotype in a Child with Donnai-Barrow Syndrome.
Sait H et al.
Indian Journal of Pediatrics, 2021
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano P et al.
Npj Genomic Medicine, 2019
31452935 (PubMed )
Supplement: 41525_2019_93_MOESM5_ESM.xlsx › Trans
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Zhu N et al.
Genome Medicine, 2018
30029678 (PubMed )
Supplement: 13073_2018_566_MOESM2_ESM.xlsx › Sheet1
Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study.
Hishida A et al.
American Journal of Nephrology, 2018
Resolving the phylogenetic origin of glioblastoma via multifocal genomic analysis of pre-treatment and treatment-resistant autopsy specimens.
Brastianos PK et al.
Npj Precision Oncology, 2017
29872714 (PubMed )
Supplement: 41698_2017_35_MOESM2_ESM.xlsx › phylogic_mafs
A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.
Pober BR et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2009
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Kantarci S et al.
Nature Genetics, 2007
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