Associated Papers
Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.
Altunoglu U et al.
Clinical Genetics, 2025
Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.
Perge K et al.
Reviews in Endocrine & Metabolic Disorders, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Perge K et al.
European Journal of Endocrinology, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient.
Li D et al.
Frontiers in Genetics, 2023
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Mericq V et al.
European Journal of Endocrinology, 2022
Further phenotypic features and two novel POC1A variants in a patient with SOFT syndrome: A case report.
Li S et al.
Molecular Medicine Reports, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2019
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.
Giorgio E et al.
European Journal of Endocrinology, 2017
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
Ko JM et al.
Journal of Human Genetics, 2016
Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.
Barraza-García J et al.
American Journal of Medical Genetics. Part A, 2016
LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice.
Geister KA et al.
Plos Genetics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Advances in Skeletal Dysplasia Genetics.
Geister KA et al.
Annual Review of Genomics and Human Genetics, 2015
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Shaheen R et al.
American Journal of Human Genetics, 2012