Associated Papers
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table2
Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.
Qiao F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Yu AC et al.
Frontiers in Neuroscience, 2019
Phenotypic and molecular insights into PQBP1-related intellectual disability.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2018
PQBP1, an intrinsically disordered/denatured protein at the crossroad of intellectual disability and neurodegenerative diseases.
Okazawa H
Neurochemistry International, 2018
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.
Zhang XY et al.
Human Molecular Genetics, 2017
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
Musante L et al.
Human Mutation, 2010
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
Martínez-Garay I et al.
European Journal of Human Genetics : Ejhg, 2007
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
Lenski C et al.
American Journal of Human Genetics, 2004
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