Associated Papers
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.
Waldman M et al.
Molecular Genetics and Metabolism, 2018
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
Han JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.
Brofferio A et al.
Molecular Genetics and Metabolism, 2017
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
Sathya Priya C et al.
Clinical Genetics, 2015
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Redin C et al.
Journal of Medical Genetics, 2012
Alstrom syndrome (OMIM 203800): a case report and literature review.
Joy T et al.
Orphanet Journal of Rare Diseases, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
Marshall JD et al.
Human Mutation, 2007
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