J. Kitzman

发表

Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing

Andrew C. Adey, Sasan Amini, Dmitry Pushkarev, 2014, Nature Genetics.

Diversity of Human Copy Number Variation and Multicopy Genes

Peter H. Sudmant, J. Kitzman, J. Shendure, 2010, Science.

Haplotype-resolved genome sequencing of a Gujarati Indian individual

Andrew C. Adey, Joseph B Hiatt, Peter H. Sudmant, 2011, Nature Biotechnology.

Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing

J. Kitzman, C. Baker, E. Eichler, 2009, Nature Genetics.

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

Gregory A. Farnum, G. Abecasis, H. Kang, 2017, Nature Communications.

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

Adrian W. Briggs, Michael F. Siebauer, Peter H. Sudmant, 2012, Science.

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

David L. Young, J. Kitzman, J. Shendure, 2015, Genetics.

Massively Parallel Single Amino Acid Mutagenesis

J. Kitzman, J. Shendure, S. Fields, 2014, Nature Methods.

Variant Interpretation: Functional Assays to the Rescue.

Maitreya J. Dunham, J. Kitzman, J. Shendure, 2017, American journal of human genetics.

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

Andrew C. Adey, Emily H Turner, Asan, 2010, Genome Biology.

Genome evolution in the allotetraploid frog Xenopus laevis

Kevin A. Burns, Nicholas H. Putnam, J. Kitzman, 2016, Nature.

Whole exome capture in solution with 3 Gbp of data

J. Kitzman, R. Gibbs, D. Muzny, 2010, Genome Biology.

Determinants of targeting by endogenous and exogenous microRNAs and siRNAs.

J. Kitzman, R. Sandberg, C. Burge, 2007, RNA.

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

Tanya M. Teslovich, Jonathan H. Chung, Ellen M. Schmidt, 2018, Nature Genetics.

Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation

Tanya M. Teslovich, Jonathan H. Chung, Ellen M. Schmidt, 2018, bioRxiv.

Large-scale genomic sequencing of extraintestinal pathogenic Escherichia coli strains

Jay Shendure, Stephen J Salipante, Matthew W. Snyder, 2015, Genome research.

The complete genome sequence of a Neanderthal from the Altai Mountains

Philip L. F. Johnson, Joseph K. Pickrell, Trygve E Bakken, 2013 .

Haplotype-resolved genome sequencing: experimental methods and applications

Matthew W. Snyder, Andrew C. Adey, J. Kitzman, 2015, Nature Reviews Genetics.

Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions

Andrew C. Adey, J. Kitzman, J. Shendure, 2013, Nature Biotechnology.

The complete genome sequence of a Neandertal from the Altai Mountains

Philip L. F. Johnson, Joseph K. Pickrell, Trygve E Bakken, 2013, Nature.

Maize Inbreds Exhibit High Levels of Copy Number Variation (CNV) and Presence/Absence Variation (PAV) in Genome Content

Patrick S. Schnable, Dan Nettleton, Nathan M. Springer, 2009, PLoS genetics.

Poxviruses Deploy Genomic Accordions to Adapt Rapidly against Host Antiviral Defenses

Jay Shendure, Nels C. Elde, J. Kitzman, 2012, Cell.

Chromatin information content landscapes inform transcription factor and DNA interactions

Stephen C. J. Parker, J. Kitzman, Peter Orchard, 2019, Nature Communications.

Inherited Causes of Clonal Hematopoiesis in 97,691 TOPMed Whole Genomes

Ivana V. Yang, Sebastian M. Armasu, Andrew D. Johnson, 2020, Nature.

Whole genome prediction for preimplantation genetic diagnosis

Jay Shendure, Matthew Rabinowitz, Matthew W. Snyder, 2015, Genome Medicine.

The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line

Jay Shendure, Choli Lee, Andrew C. Adey, 2013, Nature.

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Ryan E. Mills, J. Kitzman, Jun Z. Li, 2016, Endocrine reviews.

A transcriptional regulatory atlas of human pancreatic islets reveals non-coding functional signatures

Stephen C. J. Parker, J. Kitzman, F. Collins, 2020 .

A Transcription Start Site Map in Human Pancreatic Islets Reveals Functional Regulatory Signatures

Stephen C. J. Parker, J. Kitzman, F. Collins, 2019, Diabetes.

Individual A High-Coverage Genome Sequence from an Archaic Denisovan

Adrian W. Briggs, Michael F. Siebauer, M. Hammer, 2012 .

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk

J. Kitzman, R. Lemons, B. Burugula, 2020, bioRxiv.

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.

Tanya M. Teslovich, Ellen M. Schmidt, G. Abecasis, 2018, American journal of human genetics.

Integrating enhancer RNA signatures with diverse omics data identifies characteristics of transcription initiation in pancreatic islets

Stephen C. J. Parker, J. Kitzman, F. Collins, 2019 .

Parallel File Compression Jacob Kitzman and

J. Kitzman, 2005 .

Clonal Hematopoiesis of indeterminate potential and the risk of mild cognitive impairment or probable dementia in the Women’s Health Initiative Memory Study

J. Manson, A. Reiner, J. Kitzman, 2020, Alzheimer's & Dementia.

Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics

J. Manson, A. Reiner, J. Kitzman, 2022, Immunity & ageing : I & A.

Gene amplification acts as a molecular foothold to facilitate cross-species adaptation and evasion of multiple antiviral pathways

J. Kitzman, A. Geballe, G. Brennan, 2022, bioRxiv.

Clonal hematopoiesis is driven by aberrant activation of TCL1A

Andrew D. Johnson, Nicholette D. Palmer, Ansuman T. Satpathy, 2021, bioRxiv.

Elevated exopolysaccharide levels in Pseudomonas aeruginosa flagellar mutants have implications for biofilm growth and chronic infections

J. Kitzman, J. Shendure, L. Hoffman, 2020, PLoS genetics.

Experimental Evolution Identiﬁes Vaccinia Virus Mutations in A24R and A35R That Antagonize the Protein Kinase R Pathway and Accompany Collapse of an Extragenic Gene Ampliﬁcation

J. Kitzman, J. Shendure, A. Geballe, 2015 .

microRNAs and siRNAs Determinants of targeting by endogenous and exogenous

J. Kitzman, R. Sandberg, C. Burge, 2022 .

Copy-number variation and false positive prenatal aneuploidy screening results.

Matthew W. Snyder, J. Kitzman, J. Shendure, 2015, The New England journal of medicine.

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

J. Kitzman, A. Scott, R. Karam, 2022, Genome Biology.

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway

J. Kitzman, Jian Zhang, Liang Chen, 2022, Nature Communications.

Mutation discovery in the mouse using genetically guided array capture and resequencing

J. Kitzman, J. Affourtit, T. Richmond, 2009, Mammalian Genome.

Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

J. Kitzman, S. Camper, I. Bergadá, 2021, The Journal of clinical endocrinology and metabolism.

Fragment Length of Circulating Tumor DNA

Noah C Welker, Jay Shendure, Daniel N. Baker, 2016, PLoS genetics.

Noninvasive Whole-Genome Sequencing of a Human Fetus

Jay Shendure, Matthew W. Snyder, Jeffrey C. Murray, 2012, Science Translational Medicine.

Adaptive Gene Amplification As an Intermediate Step in the Expansion of Virus Host Range

Jay Shendure, Greg Brennan, J. Kitzman, 2014, PLoS pathogens.

SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells

J. Kitzman, A. Antonellis, E. Fogarty, 2020, BMC Genomics.

Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes

Emily J. Girard, Andrew C. Adey, Joseph B Hiatt, 2014, Genome Biology.

Regional Isolation Drives Bacterial Diversification within Cystic Fibrosis Lungs.

J. Kitzman, J. Shendure, H. Hayden, 2015, Cell host & microbe.

Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes

Emily J. Girard, Andrew C. Adey, J. Kitzman, 2014, Genome Biology.

Global dynamics of stage-specific transcription factor binding during thymocyte development

Stephen C. J. Parker, J. D. Engel, J. Kitzman, 2018, Scientific Reports.

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

Juan P. Bustamante, J. Kitzman, S. Camper, 2018, Molecular genetics & genomic medicine.

Genomic annotation of disease-associated variants reveals shared functional contexts

Stephen C. J. Parker, J. Kitzman, Yasuhiro Kyono, 2019, Diabetologia.

Repeat subtraction-mediated sequence capture from a complex genome.

J. Kitzman, T. Richmond, Cheng-Ting Yeh, 2010, The Plant journal : for cell and molecular biology.

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

Inanç Birol, Dominique Lavenier, Hamidreza Chitsaz, 2013, GigaScience.

Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Ivana V. Yang, Sebastian M. Armasu, Andrew D. Johnson, 2021, Nature.

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Ivana V. Yang, Sebastian M. Armasu, Andrew D. Johnson, 2020, Nature.

Quantification, Dynamic Visualization, and Validation of Bias in ATAC-Seq Data with ataqv.

Stephen C. J. Parker, Peter Orchard, Yasuhiro Kyono, 2020, Cell systems.

Clonal hematopoiesis of indeterminate potential and risk of death from COVID-19

Annette S. Kim, Matthew J. Frigault, J. Kitzman, 2022, Blood.

Cost effective sequencing enables longitudinal profiling of clonal hematopoiesis

A. Reiner, J. Kitzman, C. Kooperberg, 2022, medRxiv.

Chromatin information content landscapes inform transcription factor and DNA interactions

Stephen C. J. Parker, J. Kitzman, Ricardo D’Oliveira Albanus, 2021, Nature Communications.

Acquired copy number alterations in adult acute myeloid leukemia genomes

J. Kitzman, R. Wilson, R. Fulton, 2009, Proceedings of the National Academy of Sciences.

In vitro, long-range sequence information for de novo genome assembly via transposase contiguity

Andrew C. Adey, Sasan Amini, Lena Christiansen, 2014, Genome research.

Gene amplification acts as a molecular foothold to facilitate cross-species adaptation and evasion of multiple antiviral pathways

J. Kitzman, A. Geballe, S. Rothenburg, 2022, Virus evolution.

Experimental Evolution Identifies Vaccinia Virus Mutations in A24R and A35R That Antagonize the Protein Kinase R Pathway and Accompany Collapse of an Extragenic Gene Amplification

J. Kitzman, J. Shendure, A. Geballe, 2015, Journal of Virology.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Michael H. Guo, J. Kitzman, Jun Z. Li, 2021, medRxiv.

CRISPR knockout screen implicates three genes in lysosome function

Michael J. Davis, J. Kitzman, J. Swanson, 2019, Scientific Reports.

Haplotypes drop by drop

Jacob O Kitzman, J. Kitzman, 2016, Nature Biotechnology.

Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.

Ellen M. Schmidt, J. Kitzman, K. Eagle, 2019, Circulation. Genomic and precision medicine.

An essential cell cycle regulation gene causes hybrid inviability in Drosophila

J. Kitzman, J. Shendure, A. D. L. de la Cruz, 2015, Science.

Individual A High-Coverage Genome Sequence from an Archaic Denisovan

Adrian W. Briggs, Michael F. Siebauer, Peter H. Sudmant, 2012 .

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.

J. Kitzman, J. Lupski, A. Nesvizhskii, 2019, The Journal of clinical investigation.

High-throughput splicing assays identify known and novel WT1 exon 9 variants in nephrotic syndrome

J. Kitzman, S. Aradhya, B. Burugula, 2023, medRxiv.

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

Andrew D. Johnson, Nicholette D. Palmer, Ansuman T. Satpathy, 2023, Nature.

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

J. Kitzman, Cathy Smith, 2023, bioRxiv.

Non‐invasive fetal genome sequencing: Opportunities and challenges

J. Kitzman, J. Shendure, E. Eichler, 2012, American journal of medical genetics. Part A.

Whole genome prediction for preimplantation genetic diagnosis

J. Kitzman, J. Shendure, Choli Lee, 2015, Genome Medicine.

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

Tanya M. Teslovich, Jonathan H. Chung, Ryan D. Crawford, 2018, Nature Genetics.

Whole exome capture in solution with 3 Gbp of data

J. Kitzman, R. Gibbs, C. Kovar, 2010, Genome Biology.

CRISPR knockout screen implicates three genes in lysosome function

Michael J. Davis, J. Kitzman, J. Swanson, 2019, Scientific Reports.