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Author Details

Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
2005
116
47
PMIDPaper TitleJournal TitlePublished Year
37816608Novel inherited <i>CDX2</i> variant segregating in a family with diverse congenital malformations of the genitourinary system.Cold Spring Harb Mol Case Stud2024
36271811Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.Am J Med Genet A2023
37872450Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.Nat Genet2023
35802027Cerebral organoids containing an AUTS2 missense variant model microcephaly.Brain2023
35716171Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review.Genes Chromosomes Cancer2023
37087635Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.Genet Med2023
36434915Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome.Pediatr Neurol2023
36631516Single-nuclei transcriptomics enable detection of somatic variants in patient brain tissue.Sci Rep2023
35026043Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.Hum Mutat2022
35412596Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.Rheumatology (Oxford)2022
35534222De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.Cold Spring Harb Mol Case Stud2022
35783292Editorial: From Sequence to Functional Interpretation: Sifting Through the Variation of Genomic Data.Front Genet2022
35358416De novo variants in ATP2B1 lead to neurodevelopmental delay.Am J Hum Genet2022
35687047Detection of brain somatic variation in epilepsy-associated developmental lesions.Epilepsia2022
36411471Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis.Acta Neuropathol Commun2022
35912263Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement.Front Oncol2022
34859533Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.Hum Mutat2022
35091509Inherited and de novo variants extend the etiology of <i>TAOK1</i>-associated neurodevelopmental disorder.Cold Spring Harb Mol Case Stud2022
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
33074854YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas.Am J Surg Pathol2021
33827698Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.Acta Neuropathol Commun2021
33597776The watcher in the vale.Nature2021
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
34504799Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review.Front Oncol2021
34476810Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.Clin Genet2021
34345025Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.Genet Med2021
34194468Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report.Front Genet2021
34048549PTEN somatic mutations contribute to spectrum of cerebral overgrowth.Brain2021
32532881Early-onset Wilson disease caused by <i>ATP7B</i> exon skipping associated with intronic variant.Cold Spring Harb Mol Case Stud2020
32057122The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.Ann Neurol2020
31833174Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.Am J Med Genet A2020
33106175Best practices for variant calling in clinical sequencing.Genome Med2020
32637635Somatic <i>SLC35A2</i> mosaicism correlates with clinical findings in epilepsy brain tissue.Neurol Genet2020
32386558Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.Am J Hum Genet2020
32371413Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.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
31686056Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.Nature2019
31884611Detection of Large Structural Variants Causing Inherited Retinal Diseases.Adv Exp Med Biol2019
29857119Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project.Genomics2019
31397523Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.Hum Mutat2019
31367044Exome sequencing of Finnish isolates enhances rare-variant association power.Nature2019
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
30957677Identification of Rare Variants Predisposing to Thyroid Cancer.Thyroid2019
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
29434027Genome sequencing identifies somatic <i>BRAF</i> duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma.Cold Spring Harb Mol Case Stud2018
29590295Functional annotation of genomic variants in studies of late-onset Alzheimer's disease.Bioinformatics2018
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Collaborators

Richard K Wilson
The Ohio State University
Co-authored papers 70
Elaine R Mardis
The Ohio State University
Co-authored papers 47
Li Ding
McDonnell Genome Institute, Washington University School of Medicine
Co-authored papers 31
Robert S Fulton
McDonnell Genome Institute, Washington University School of Medicine
Co-authored papers 31
David E Larson
McDonnell Genome Institute, Washington University School of Medicine
Co-authored papers 29
Vincent Magrini
The Ohio State University
Co-authored papers 23
Peter White
The Ohio State University
Co-authored papers 20
Michael D McLellan
McDonnell Genome Institute, Washington University in St. Louis
Co-authored papers 20
Ken Chen
University of Texas MD Anderson Cancer Center
Co-authored papers 17
Timothy J Ley
Washington University School of Medicine
Co-authored papers 17
Lucinda Fulton
McDonnell Genome Institute, Washington University School of Medicine
Co-authored papers 15
Katherine E Miller
College of Medicine, The Ohio State University
Co-authored papers 15
Benjamin J Kelly
Nationwide Children's Hospital
Co-authored papers 13
Qunyuan Zhang
Co-authored papers 12
Timothy A Graubert
Massachusetts General Hospital
Co-authored papers 12
Sean McGrath
Harvard T.H. Chan School of Public Health
Co-authored papers 12
George M Weinstock
The Genome Center at Washington University, Washington University School of Medicine
Co-authored papers 12
Daniel C Link
Washington University School of Medicine
Co-authored papers 11
Michael C Wendl
Washington University in St Louis
Co-authored papers 11
Matthew J Walter
Washington University School of Medicine in St. Louis
Co-authored papers 11
Catherine E Cottrell
Nationwide Children's Hospital
Co-authored papers 11
Joshua F McMichael
Washington University
Co-authored papers 10
Sharon E Heath
Washington University School of Medicine.
Co-authored papers 10
John F DiPersio
Washington University School of Medicine
Co-authored papers 9
Christopher A Miller
Washington University School of Medicine
Co-authored papers 9
Kathleen M Schieffer
Nationwide Children's Hospital
Co-authored papers 9
Tracy A Bedrosian
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 9
Raymond D Miller
Washington University
Co-authored papers 9
Mark A Watson
Washington University School of Medicine
Co-authored papers 9
Cyriac Kandoth
University of California los angeles
Co-authored papers 8
Release 1.2