Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.
Brémovà-Ertl T et al.
Frontiers in Neurology, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.
Rački V et al.
Genes, 2024
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.
Bruno F et al.
Biomedicines, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.
Schneider SA et al.
Journal of Neurology, 2021
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 2021
Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition.
Sorrentino F et al.
Journal of Alzheimer's Disease : Jad, 2021
First Prenatal Diagnosis of a Niemann-Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature.
Ples L et al.
Frontiers in Endocrinology, 2018
Role of Niemann-Pick Type C Disease Mutations in Dementia.
Cupidi C et al.
Journal of Alzheimer's Disease : Jad, 2017
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
De novo KCNB1 mutations in epileptic encephalopathy.
Torkamani A et al.
Annals of Neurology, 2014
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
Bauer P et al.
Human Molecular Genetics, 2013
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
Zech M et al.
Plos One, 2013