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Author Details

Wojciech Wiszniewski
Oregon Health & Sciences University
1998
61
28
PMIDPaper TitleJournal TitlePublished Year
37467750Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.Am J Hum Genet2023
37506692Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.Am J Hum Genet2023
37599337Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.J Appl Genet2023
35332613Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.Hum Mutat2022
34946966Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.Genes (Basel)2021
33921653Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the <i>WDR62</i> Gene.Genes (Basel)2021
33930262The <i>MED13L</i> haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).J Mother Child2021
32399692Screening for genetic mutations in patients with neuropathy without definite etiology is useful.J Neurol2020
32097629Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.Neuron2020
31630790Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.Am J Hum Genet2019
31495489Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.Am J Hum Genet2019
29706646Comprehensive genomic analysis of patients with disorders of cerebral cortical development.Eur J Hum Genet2018
27577878Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.J Allergy Clin Immunol2017
28327206Lessons learned from additional research analyses of unsolved clinical exome cases.Genome Med2017
27484032Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.J Allergy Clin Immunol2016
26633545Molecular diagnostic experience of whole-exome sequencing in adult patients.Genet Med2016
26378787The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Genet Med2016
27588455GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.Am J Hum Genet2016
27523599GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.Am J Hum Genet2016
27343026PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.Pediatr Neurol2016
25736269FBN1 contributing to familial congenital diaphragmatic hernia.Am J Med Genet A2015
26539891Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Neuron2015
26583493Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease.J Clin Neuromuscul Dis2015
26257172Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.Cell Rep2015
26195989Secondary findings and carrier test frequencies in a large multiethnic sample.Genome Med2015
26166479The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.Am J Hum Genet2015
25894502COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.Nat Genet2015
24462372NR2F1 mutations cause optic atrophy with intellectual disability.Am J Hum Genet2014
25259927A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.Cell2014
25045128Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.Am J Med Genet A2014
24766809Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.Cell2014
23810381TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.Am J Hum Genet2013
24126608Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.JAMA Neurol2013
23847051Curcumin facilitates a transitory cellular stress response in Trembler-J mice.Hum Mol Genet2013
21153841Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.Hum Genet2011
21594611Genomic medicine and neurological disease.Hum Genet2011
21677200Whole-genome sequencing for optimized patient management.Sci Transl Med2011
20921022Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.J Med Genet2010
17265047Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.Hum Genet2007
17701891Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.Am J Hum Genet2007
17717711Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.Neurogenetics2007
15696369Evolution of ABCA4 proteins in vertebrates.J Mol Evol2005
16380907GJB2 mutations and degree of hearing loss: a multicenter study.Am J Hum Genet2005
16252242Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.Am J Hum Genet2005
15871052Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).Neurol Neurochir Pol2005
16103129ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.Hum Mol Genet2005
15776429SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.Hum Mutat2005
14973505Defective class II transactivator expression in a B lymphoma cell line.Leukemia2004
15858238[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].Med Wieku Rozwoj2004
12618906Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.Immunogenetics2003
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