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Author Details

Szabolcs Szelinger
College of American Pathologists
1996
54
21
PMIDPaper TitleJournal TitlePublished Year
37791544Preparing for the unexpected: Recommendations for returning secondary findings in late-stage cancer care.Genet Med2024
37852169Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.Arch Pathol Lab Med2024
37408271Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.Cells2023
37876879Underreporting <i>of SMARCB1</i> alteration by clinical sequencing: Integrative patho-genomic analysis captured <i>SMARCB1</i>/INI-1 deficiency in a vulvar yolk sac tumor.Gynecol Oncol Rep2023
34994087Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.Mol Genet Genomic Med2022
35544730Comprehensive Genomic Profiling of High-Risk Pediatric Cancer Patients Has a Measurable Impact on Clinical Care.JCO Precis Oncol2022
35743482A Case Report of Immunotherapy-Resistant MSI-H Gastric Cancer with Significant Intrapatient Tumoral Heterogeneity Characterized by Histologic Dedifferentiation.J Clin Med2022
34610968Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.Cancer Res2021
33889297Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra<sup>®</sup>.Oncotarget2021
32754643Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>.Neurol Genet2020
33235206Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice.Transl Psychiatry2020
30503783Efficient region-based test strategy uncovers genetic risk factors for functional outcome in bipolar disorder.Eur Neuropsychopharmacol2019
31748968Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).Hum Genet2019
31236915Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.Clin Genet2019
31422817Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.Am J Hum Genet2019
30487653Chronotype and cellular circadian rhythms predict the clinical response to lithium maintenance treatment in patients with bipolar disorder.Neuropsychopharmacology2019
30415424Detecting significant genotype-phenotype association rules in bipolar disorder: market research meets complex genetics.Int J Bipolar Disord2018
32714589A novel variant in <i>TAF1</i> affects gene expression and is associated with X-linked <i>TAF1</i> intellectual disability syndrome.Neuronal Signal2018
30160831A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.Am J Med Genet A2018
29961512Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.Semin Pediatr Neurol2018
28663785Case Report: Novel mutations in <i>TBC1D24</i> are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.F1000Res2017
28139025A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.Am J Med Genet A2017
28132692A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.Am J Hum Genet2017
28967789Exploring genome-wide DNA methylation patterns in Aicardi syndrome.Epigenomics2017
27132593A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.Am J Hum Genet2016
27626064A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.Cold Spring Harb Mol Case Stud2016
27150464The Pharmacogenomics of Bipolar Disorder study (PGBD): identification of genes for lithium response in a prospective sample.BMC Psychiatry2016
27329760Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.Hum Mol Genet2016
25730879Rare variants in neuronal excitability genes influence risk for bipolar disorder.Proc Natl Acad Sci U S A2015
26535115Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.F1000Res2015
26176221A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.PLoS One2015
26091538A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.Invest Ophthalmol Vis Sci2015
25503791Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing.PLoS One2014
22212596Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants.Mol Psychiatry2013
23933821Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.Nat Genet2013
23666530In vitro-differentiated neural cell cultures progress towards donor-identical brain tissue.Hum Mol Genet2013
23497090Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder.J Neuroinflammation2013
23038240Evidence for association of bipolar disorder to haplotypes in the 22q12.3 region near the genes stargazin, IFT27 and parvalbumin.Am J Med Genet B Neuropsychiatr Genet2012
23010768Genome-wide significant association between a 'negative mood delusions' dimension in bipolar disorder and genetic variation on chromosome 3q26.1.Transl Psychiatry2012
21204026Microarray-based genome-wide association studies using pooled DNA.Methods Mol Biol2011
21839145Induction of pluripotent stem cells from autopsy donor-derived somatic cells.Neurosci Lett2011
21738484Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.PLoS Genet2011
21204029Bar-coded, multiplexed sequencing of targeted DNA regions using the Illumina Genome Analyzer.Methods Mol Biol2011
19925883BING: biomedical informatics pipeline for Next Generation Sequencing.J Biomed Inform2010
19114987Singleton deletions throughout the genome increase risk of bipolar disorder.Mol Psychiatry2009
18252217Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.Am J Hum Genet2008
18769715Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays.PLoS Genet2008
18794863Identification of genetic variants using bar-coded multiplexed sequencing.Nat Methods2008
18617537Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies.Bioinformatics2008
17160900Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies.Am J Hum Genet2007
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Collaborators

University of Southern California
Co-authored papers 40
The Translational Genomics Research Institute (TGen)
Co-authored papers 23
University of California
Co-authored papers 13
Stark Neurosciences Research Institute, Indiana University School of Medicine
Co-authored papers 12
University of Chicago
Co-authored papers 12
University of California San Diego
Co-authored papers 11
Johns Hopkins University School of Medicine
Co-authored papers 11
VA San Diego Healthcare System (VASDHS)
Co-authored papers 11
University of Iowa
Co-authored papers 11
University of Pennsylvania
Co-authored papers 11
University of Michigan ann arbor
Co-authored papers 11
Indiana University School of Medicine
Co-authored papers 10
University of California
Co-authored papers 10
Howard University Hospital
Co-authored papers 9
SUNY Upstate Medical University
Co-authored papers 9
University of California San Diego
Co-authored papers 9
Indiana University School of Medicine
Co-authored papers 9
Boston University School of Public Health
Co-authored papers 9
Rush Medical College
Co-authored papers 9
Rush University Medical College
Co-authored papers 9
Howard University
Co-authored papers 9
University of California san francisco
Co-authored papers 9
University Hospital Frankfurt
Co-authored papers 9
University of California
Co-authored papers 9
Department of Pediatrics and Rady's Children's Hospital, University of California
Co-authored papers 9
Brigham & Women's Hospital, Harvard Medical School
Co-authored papers 9
Indiana University School of Medicine
Co-authored papers 9
Howard University Hospital
Co-authored papers 9
Washington University School of Medicine
Co-authored papers 9
University of Michigan ann arbor
Co-authored papers 8