Associated Papers
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss.
Xiang L et al.
Journal of Human Genetics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
Peng Y et al.
Bmc Medical Genomics, 2023
38062428 (PubMed )
Supplement: 12920_2023_1753_MOESM2_ESM.xlsx › Sheet1
Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.
Xiao M et al.
Frontiers in Medicine, 2022
Structure of the human Meckel-Gruber protein Meckelin.
Liu D et al.
Science Advances, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
34645491 (PubMed )
Supplement: 13073_2021_965_MOESM1_ESM.xlsx › Table_S1
Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies.
Liu Y et al.
Frontiers in Genetics, 2021
34675960 (PubMed )
Supplement: Table1.XLSX › Sheet1
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
[A case with neonatal Joubert syndrome].
Li H et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T et al.
Clinical Genetics, 2016
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
Slaats GG et al.
Journal of Cell Science, 2015
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
Abdelhamed ZA et al.
Disease Models & Mechanisms, 2015
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
Zhang M et al.
International Journal of Clinical and Experimental Pathology, 2015
Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3).
Lu Y et al.
Plos One, 2013
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
Szymanska K et al.
Cilia, 2012
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
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