Associated Papers
Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights.
Ak B et al.
Bone, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F et al.
European Journal of Human Genetics : Ejhg, 2023
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
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
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study.
Zhang L et al.
Clinical Genetics, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.
Xia CL et al.
Molecular Medicine Reports, 2021
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C et al.
Prenatal Diagnosis, 2020
The molecular landscape of ETMR at diagnosis and relapse.
Lambo S et al.
Nature, 2019
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
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