Associated Papers
Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly).
Chen W et al.
Frontiers in Genetics, 2023
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.
Stembalska A et al.
Genes, 2022
Ciliopathies: Coloring outside of the lines.
Strong A et al.
American Journal of Medical Genetics. Part A, 2021
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W et al.
Human Mutation, 2018
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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