Associated Papers
Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.
Miao Y et al.
Molecular Genetics & Genomic Medicine, 2025
40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › father.xlsx › Sheet1
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D et al.
Bmc Ophthalmology, 2022
35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM5_ESM.xlsx › Sheet1
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins.
Kuhlwilm M et al.
Scientific Reports, 2019
31186485 (PubMed )
Supplement: 41598_2019_44877_MOESM2_ESM.xlsx › S3_AHMCs
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.
Arai Y et al.
Journal of Ophthalmology, 2015
A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.
Suzuki T et al.
Japanese Journal of Ophthalmology, 2014
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
Li L et al.
Plos One, 2011
21602930 (PubMed )
Supplement: pone.0019458.s005.xls › Sheet1
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR et al.
Ophthalmology, 2010
Molecular characterization of Leber congenital amaurosis in Koreans.
Seong MW et al.
Molecular Vision, 2008
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI et al.
Human Mutation, 2004
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
Bernal S et al.
Journal of Medical Genetics, 2003
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