D. Bodian

发表

Cell type–specific gene expression differences in complex tissues

Mark M. Davis, R. Tibshirani, T. Hastie, 2010, Nature Methods.

Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing

Ramaswamy K. Iyer, Prachi Kothiyal, John E. Niederhuber, 2014, PloS one.

Inhibition of the fusion-inducing conformational change of influenza hemagglutinin by benzoquinones and hydroquinones.

I D Kuntz, I. Kuntz, D. Bodian, 1993, Biochemistry.

Germline de novo mutation clusters arise during oocyte aging in genomic regions with increased double-strand break incidence

J. Veltman, J. Goldmann, W. Wong, 2017, bioRxiv.

Mendelian inheritance errors in whole genome sequenced trios are enriched in repeats and cluster within copy number losses

P. Kothiyal, W. Wong, D. Bodian, 2017, bioRxiv.

Parent-of-origin-specific signatures of de novo mutations

J. Roach, L. Vissers, A. Hoischen, 2016, Nature Genetics.

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

J. Vockley, P. Kothiyal, W. Wong, 2015, Genetics in Medicine.

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

Pieter B. T. Neerincx, J. Veltman, J. Goldmann, 2018, Nature Genetics.

Whole-Genome Sequencing of a Healthy Aging Cohort

Ali Torkamani, Eric J. Topol, Erick R. Scott, 2016, Cell.

Genomic and molecular characterization of preterm birth

David L. Gibbs, Denise E. Mauldin, L. Hood, 2019, Proceedings of the National Academy of Sciences.

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

N. Hauser, D. Bodian, B. Solomon, 2018, Molecular genetics & genomic medicine.

A Splice Variant of β-Secretase Deficient in the Amyloidogenic Processing of the Amyloid Precursor Protein*

G. Multhaup, D. Bodian, P. Paganetti, 2001, The Journal of Biological Chemistry.

Mutational analysis of the CD6 ligand binding domain.

J. Bajorath, D. Bodian, A. Aruffo, 1997, Protein engineering.

Utility of Whole Genome Sequencing for Detection of Newborn Screening Disorders in a Population Cohort of ∼1700 Neonates

J. Vockley, Aaron D. Black, G. Eley, 2015 .

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Alexander E. Lopez, Tanya M. Teslovich, Gaurang C. Patel, 2022, Communications Biology.

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio

J. Vockley, D. Bodian, R. Iyer, 2014, Molecular genetics & genomic medicine.

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

P. Kwok, P. Byers, D. Bodian, 2008, Human molecular genetics.

Expanding the phenotypic spectrum in EP300‐related Rubinstein–Taybi syndrome

J. Vockley, D. Bodian, R. Iyer, 2015, American journal of medical genetics. Part A.

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Alexander E. Lopez, Dustin N. Hartzel, Andrew L Blumenfeld, 2021, Nature Communications.

Mutational Analysis of the Active Site and Antibody Epitopes of the Complement-inhibitory Glycoprotein, CD59

D. Bodian, B. Morgan, N. Rushmere, 1997, The Journal of experimental medicine.

CD80 (B7-1) Binds Both CD28 and CTLA-4 with a Low Affinity and Very Fast Kinetics

P. Linsley, D. Bodian, P. A. van der Merwe, 1997, The Journal of experimental medicine.

Identification of a family of cAMP response element-binding protein coactivators by genome-scale functional analysis in mammalian cells

A. Orth, L. Miraglia, G. Chirn, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error

Prachi Kothiyal, Wendy S W Wong, Dale L Bodian, 2019, J. Comput. Biol..

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

Pieter B. T. Neerincx, J. Veltman, J. Goldmann, 2018, Nature Genetics.

New observations on maternal age effect on germline de novo mutations

J. Vockley, G. Eley, D. Bodian, 2016, Nature Communications.

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy

N. Hauser, H. Mani, D. Bodian, 2017, Cold Spring Harbor molecular case studies.

A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth

Michael P Snyder, Nikolaos A Patsopoulos, Nadav Rappoport, 2018, Scientific Reports.

Molecular docking using shape descriptors

Brian K. Shoichet, Irwin D. Kuntz, Dale L. Bodian, 1992 .

Crystal structure of the extracellular region of the human cell adhesion molecule CD2 at 2.5 A resolution.

D. Stuart, D. Bodian, E. Jones, 1994, Structure.

Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer

Roland L. Dunbrack, J. Vockley, Yan Zhou, 2015, Oncotarget.

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

Alexander E. Lopez, Dustin N. Hartzel, Andrew L Blumenfeld, 2021, Scientific Reports.

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Aaron D. Black, N. Hauser, D. Bodian, 2017, Genetics in Medicine.

Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.

J. Vockley, Yan Zhou, B. Egleston, 2015, Gastroenterology.

Mutations in NOTCH1 cause Adams-Oliver syndrome.

J. Roach, J. Vockley, D. Bodian, 2014, American journal of human genetics.

Rapid expression cloning of receptors using epitope‐tagged ligands and high‐speed cell sorting

G. Chirn, M. Labow, D. Bodian, 2003, Cytometry. Part A : the journal of the International Society for Analytical Cytology.

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

Jared C. Roach, Gustavo Glusman, Max Robinson, 2015, Front. Genet..

Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

N. Hauser, D. Bodian, T. Vilboux, 2019, Allergy, Asthma & Clinical Immunology.

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

Alina Khromykh, Thierry Vilboux, N. Hauser, 2018, Cold Spring Harbor molecular case studies.

Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1

H. Hakonarson, S. Ingles, J. Hoh, 2018, Hypertension.

Development of comprehensive functional genomic screens to identify novel mediators of osteoarthritis.

G. Chirn, M. Labow, M. Lotz, 2005, Osteoarthritis and cartilage.

Moving Beyond Clinical Risk Scores with a Mobile App for the Genomic Risk of Coronary Artery Disease

E. Topol, A. Torkamani, D. Bodian, 2017, bioRxiv.

Tools for annotation and comparison of structural variation

Justin M Zook, Fritz J Sedlazeck, Andi Dhroso, 2017, F1000Research.

Identification of residues in CD6 which are critical for ligand binding.

J. Bajorath, D. Bodian, A. Aruffo, 1997, Biochemistry.

Expression cloning of an equine T-lymphocyte glycoprotein CD2 cDNA. Structure-based analysis of conserved sequence elements.

D. Stuart, D. Bodian, E. Jones, 1994, European journal of biochemistry.

Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project

D. Ledbetter, C. Martin, M. Oetjens, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

somatic) syndrome is a disease with rheumatologic and hematologic features caused by somatic variants in UBA1. Pathogenic variants are associated with a broad spectrum of clinical manifestations. Knowledge of prevalence, penetrance, and clinical characteristics of this disease

Jung, D. Kastner, D. Carey, 2022 .

Molecular Dynamics Simulations of the Full Triple Helical Region of Collagen Type I Provide An Atomic Scale View of the Protein's Regional Heterogeneity

Teri E. Klein, Dale L. Bodian, Randall J. Radmer, 2011, Pacific Symposium on Biocomputing.

Predicting the clinical lethality of osteogenesis imperfecta from collagen glycine mutations.

Balaraman Madhan, Dale L Bodian, D. Bodian, 2008, Biochemistry.

Intermonomer disulfide bonds impair the fusion activity of influenza virus hemagglutinin

I. Wilson, D. Bodian, J. White, 1992, Journal of virology.

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.

D. Kastner, D. Bodian, A. Schwartz, 2023, JAMA.

CONDITION BY INHIBITING MEMBRANE FUSION

D. Bodian, J. White, 2017 .

Ligand Binding by the Immunoglobulin Superfamily Recognition Molecule CD2 Is Glycosylation-independent (*)

D I Stuart, D. Stuart, R. Dwek, 1995, The Journal of Biological Chemistry.

Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

J. Vockley, D. Bodian, R. Iyer, 2015, Molecular Syndromology.

Characterization of de novo Mutations in the Human Germline

J. Roach, L. Vissers, A. Hoischen, 2019 .

Mutational analysis of the CD 6 ligand binding domain

J. Bajorath, D. Bodian, A. Aruffo, 1997 .

Extracting cell-type-specific gene expression differences from complex tissues (144.30)

Mark M. Davis, R. Tibshirani, T. Hastie, 2010, The Journal of Immunology.

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

Pieter B. T. Neerincx, J. Veltman, C. Gilissen, 2018, Nature Genetics.

Germline de novo mutation clusters arise during oocyte aging in genomic regions with increased double-strand break incidence

J. Veltman, C. Gilissen, D. Bodian, 2017, bioRxiv.

Pitfalls of clinical exome and gene panel testing: alternative transcripts

N. Hauser, D. Bodian, Prachi Kothiyal, 2018, Genetics in Medicine.

Analysis of the structure and interactions of CD2.

D. Bodian, A. Barclay, P. A. van der Merwe, 1993, Biochemical Society transactions.