Associated Papers
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Mayer de Lima LB et al.
Clinical Genetics, 2026
Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.
van Paassen BW et al.
Neurology. Genetics, 2025
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Haarman AEG et al.
Ophthalmology Science, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW et al.
Prenatal Diagnosis, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1.
Fallatah W et al.
Frontiers in Cell and Developmental Biology, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata.
Luisman T et al.
Orphanet Journal of Rare Diseases, 2021
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Fallatah W et al.
Journal of Inherited Metabolic Disease, 2021
Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy.
Samanta D
Eneurologicalsci, 2020
The type-2 peroxisomal targeting signal.
Kunze M
Biochimica Et Biophysica Acta. Molecular Cell Research, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
With expanded carrier screening, founder populations run the risk of being overlooked.
Mathijssen IB et al.
Journal of Community Genetics, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
Çim A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2015
The neurology of rhizomelic chondrodysplasia punctata.
Bams-Mengerink AM et al.
Orphanet Journal of Rare Diseases, 2013
Rhizomelic chondrodysplasia punctata and cardiac pathology.
Huffnagel IC et al.
Journal of Medical Genetics, 2013
Using whole-exome sequencing to identify inherited causes of autism.
Yu TW et al.
Neuron, 2013
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.
Braverman NE et al.
Developmental Disabilities Research Reviews, 2013
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.
Pérez B et al.
Molecular Syndromology, 2012
Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
Ro M et al.
Journal of Child Neurology, 2012
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR et al.
Biochimica Et Biophysica Acta, 2012
In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor.
Wood PL et al.
Lipids in Health and Disease, 2011
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
Dranchak PK et al.
Journal of Cellular Biochemistry, 2011
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
Phadke SR et al.
Journal of Applied Genetics, 2010
Peroxisome biogenesis disorders.
Steinberg SJ et al.
Biochimica Et Biophysica Acta, 2006
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
Braverman N et al.
Human Mutation, 2002
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Motley AM et al.
American Journal of Human Genetics, 2002
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
Purdue PE et al.
Neurochemical Research, 1999
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
Purdue PE et al.
Nature Genetics, 1997