Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Structure and tethering mechanism of dynein-2 intermediate chains in intraflagellar transport.
Mukhopadhyay AG et al.
The Embo Journal, 2024
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
Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
Deng L et al.
Birth Defects Research, 2018
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2018
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W et al.
Human Mutation, 2018
Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.
Chen LS et al.
Genetics and Molecular Research : Gmr, 2016
Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III.
Mei L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Schmidts M et al.
Journal of Medical Genetics, 2013
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Baujat G et al.
Journal of Medical Genetics, 2013
Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2012
Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2012
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
Merrill AE et al.
American Journal of Human Genetics, 2009