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
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
Trio-based whole exome sequencing in patients with ectopic posterior pituitary.
Lyra A et al.
Frontiers in Pediatrics, 2024
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
Corder ML et al.
American Journal of Medical Genetics. Part A, 2022
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree.
Meng P et al.
Molecular Genetics & Genomic Medicine, 2019
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Role of GLI2 in hypopituitarism phenotype.
Arnhold IJ et al.
Journal of Molecular Endocrinology, 2015
The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.
Gregory LC et al.
Clinical Endocrinology, 2015
Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
Paulo SS et al.
Clinical Endocrinology, 2015
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
França MM et al.
Clinical Endocrinology, 2013
Clinical findings in patients with GLI2 mutations--phenotypic variability.
Bertolacini CD et al.
Clinical Genetics, 2012
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
Kevelam SH et al.
American Journal of Medical Genetics. Part A, 2012