Associated Papers
[Ophthalmological care of patients with Bardet-Biedl syndrome].
Mahler EA et al.
Die Ophthalmologie, 2026
[Prenatal phenotype and genetic analysis of two fetuses with Bardet-Biedl syndrome].
Zhang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome.
Wang Z et al.
Nucleic Acids Research, 2024
Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.
Kim YM et al.
Journal of Clinical Medicine, 2023
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.
Nawaz H et al.
Genes, 2023
Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet-Biedl Syndrome Type I (BBS1) due to Missense Mutation.
Yan K et al.
Frontiers in Genetics, 2022
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
Akter H et al.
Npj Genomic Medicine, 2021
Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.
Saeed S et al.
Diabetes, 2020
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE et al.
Scientific Reports, 2017
28663568 (PubMed )
Supplement: 41598_2017_3054_MOESM1_ESM.xlsx › Supplementary_Table_2
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