Associated Papers
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
Budny B et al.
Frontiers in Endocrinology, 2020
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred.
Correa-Silva SR et al.
Journal of Neuroendocrinology, 2018
Cardiac innervation and sudden cardiac death.
Fukuda K et al.
Circulation Research, 2015
Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome.
Boczek NJ et al.
Circulation Research, 2014
A nonsynonymous polymorphism in semaphorin 3A as a risk factor for human unexplained cardiac arrest with documented ventricular fibrillation.
Nakano Y et al.
Plos Genetics, 2013
The quest for the identification of genetic variants in unexplained cardiac arrest and idiopathic ventricular fibrillation.
Postema PG
Plos Genetics, 2013
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