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Author Details

Peter White
The Ohio State University
2000
103
33
PMIDPaper TitleJournal TitlePublished Year
35716171Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review.Genes Chromosomes Cancer2023
37663545Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndrome.HGG Adv2023
37706184CRISPR-Cas9 homology-independent targeted integration of exons 1-19 restores full-length dystrophin in mice.Mol Ther Methods Clin Dev2023
34958940Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease.Heart Rhythm2022
35737725Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.PLoS Genet2022
35687047Detection of brain somatic variation in epilepsy-associated developmental lesions.Epilepsia2022
35912263Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement.Front Oncol2022
36191838Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity.J Mol Diagn2022
34859533Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.Hum Mutat2022
35091508Biallelic <i>SEPSECS</i> variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.Cold Spring Harb Mol Case Stud2022
32943400Phagosome-regulated mTOR signalling during sarcoidosis granuloma biogenesis.Eur Respir J2021
33827698Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.Acta Neuropathol Commun2021
33822938Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population.Gigascience2021
33893698Novel morphologic findings in PLAG1-rearranged soft tissue tumors.Genes Chromosomes Cancer2021
34895332Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas.Acta Neuropathol Commun2021
34863095Discovery of clinically relevant fusions in pediatric cancer.BMC Genomics2021
34667072Maternal mosaicism for a missense variant in the <i>SMS</i> gene that causes Snyder-Robinson syndrome.Cold Spring Harb Mol Case Stud2021
34504875A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes.Front Cardiovasc Med2021
34476810Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.Clin Genet2021
34386729Evidence of pioneer factor activity of an oncogenic fusion transcription factor.iScience2021
34041825Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence.Genes Chromosomes Cancer2021
34368016L-Arabinose Transport and Metabolism in <i>Salmonella</i> Influences Biofilm Formation.Front Cell Infect Microbiol2021
34278266Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma.iScience2021
33074854YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas.Am J Surg Pathol2021
31474496Whole-blood transcriptomic responses to lumacaftor/ivacaftor therapy in cystic fibrosis.J Cyst Fibros2020
32081490Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.Ophthalmology2020
32023625Prediction of short-term neonatal complications in preterm infants using exome-wide genetic variation and gestational age: a pilot study.Pediatr Res2020
31949013<i>De novo</i> primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) <i>NFIA/CBFA2T3</i> translocation.Haematologica2020
33028644Infantile fibrosarcoma-like tumor driven by novel <i>RBPMS-MET</i> fusion consolidated with cabozantinib.Cold Spring Harb Mol Case Stud2020
32637635Somatic <i>SLC35A2</i> mosaicism correlates with clinical findings in epilepsy brain tissue.Neurol Genet2020
32764656Author Correction: Baseline and Disease-Induced Transcriptional Profiles in Children with Sickle Cell Disease.Sci Rep2020
32839173The Sensor Kinase QseC Regulates the Unlinked PmrA Response Regulator and Downstream Gene Expression in <i>Francisella</i>.J Bacteriol2020
32184403Publisher Correction: Whole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function.Sci Rep2020
32487996Baseline and Disease-Induced Transcriptional Profiles in Children with Sickle Cell Disease.Sci Rep2020
32130901Continuous Microevolution Accelerates Disease Progression during Sequential Episodes of Infection.Cell Rep2020
32453731Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.PLoS Genet2020
32371413Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.Cold Spring Harb Mol Case Stud2020
32532881Early-onset Wilson disease caused by <i>ATP7B</i> exon skipping associated with intronic variant.Cold Spring Harb Mol Case Stud2020
29728705Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.Mol Psychiatry2019
31836586Novel in-frame <i>FLNB</i> deletion causes Larsen syndrome in a three-generation pedigree.Cold Spring Harb Mol Case Stud2019
30134122IL-13-regulated Macrophage Polarization during Granuloma Formation in an In Vitro Human Sarcoidosis Model.Am J Respir Cell Mol Biol2019
31271967Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.iScience2019
31575775Establishment of Chronic Typhoid Infection in a Mouse Carriage Model Involves a Type 2 Immune Shift and T and B Cell Recruitment to the Gallbladder.mBio2019
31195167Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.Eur J Med Genet2019
31278392Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.Eur J Hum Genet2019
30936374Human Bile-Mediated Regulation of <i>Salmonella</i> Curli Fimbriae.J Bacteriol2019
30962351Pathoadaptive Alteration of <i>Salmonella</i> Biofilm Formation in Response to the Gallbladder Environment.J Bacteriol2019
30679625Whole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function.Sci Rep2019
29305346A de novo nonsense mutation in <i>ASXL3</i> shared by siblings with Bainbridge-Ropers syndrome.Cold Spring Harb Mol Case Stud2018
30054298In-frame de novo mutation in <i>BICD2</i> in two patients with muscular atrophy and arthrogryposis.Cold Spring Harb Mol Case Stud2018
  • 1 - 50 of 103

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Collaborators

Benjamin J Kelly
Nationwide Children's Hospital
Co-authored papers 30
Richard K Wilson
The Ohio State University
Co-authored papers 26
Klaus H Kaestner
Department of Genetics and Institute for Diabetes, University of Pennsylvania
Co-authored papers 25
James Fitch
The Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 24
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 20
Elaine R Mardis
The Ohio State University
Co-authored papers 18
Catherine E Cottrell
Nationwide Children's Hospital
Co-authored papers 17
Vincent Magrini
The Ohio State University
Co-authored papers 17
Katherine E Miller
College of Medicine, The Ohio State University
Co-authored papers 15
Kathleen M Schieffer
Nationwide Children's Hospital
Co-authored papers 15
Stephanie LaHaye
The Institute for Genomic Medicine at Nationwide Children's Hospital
Co-authored papers 12
Amy Wetzel
The Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 8
Daniel R Bou??
Nationwide Children's Hospital
Co-authored papers 8
Sean McGrath
Harvard T.H. Chan School of Public Health
Co-authored papers 8
Kristen Leraas
Nationwide Children's Hospital
Co-authored papers 8
Anthony R Miller
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 7
Jonathan L Finlay
Nationwide Children's Hospital and The Ohio State University
Co-authored papers 7
Christopher R Pierson
Co-authored papers 7
John Brestelli
University of Pennsylvania
Co-authored papers 6
Sara M Fitzgerald-Butt
Indiana University School of Medicine
Co-authored papers 6
Diana S Osorio
Nationwide Children's Hospital and The Ohio State University
Co-authored papers 5
Jonathan Schug
University of Pennsylvania Perelman School of Medicine
Co-authored papers 5
Tracy A Bedrosian
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 5
Larry S Schlesinger
Texas Biomedical Research Institute
Co-authored papers 4
Saranga Wijeratne
The Ohio State University
Co-authored papers 4
Christian J Stoeckert
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 4
Natalie Bir
The Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 3
Octavio Ramilo
St. Jude Children's Research Hospital
Co-authored papers 3
Mohamed S Abdelbaki
Washington University
Co-authored papers 3
Wolfgang Sad??e
College of Medicine, The Ohio State University
Co-authored papers 3
Release 1.2