Jay Shendure
#48,720
Most Influential Person Now
American geneticist
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Jay Shendurebiology Degrees
Biology
#2324
World Rank
#3704
Historical Rank
#1045
USA Rank
Computational Biology
#61
World Rank
#61
Historical Rank
#21
USA Rank
Genetics
#233
World Rank
#280
Historical Rank
#121
USA Rank
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Biology
Jay Shendure's Degrees
- PhD Genome Sciences University of Washington
- Bachelors Biochemistry University of California, Berkeley
Why Is Jay Shendure Influential?
(Suggest an Edit or Addition)According to Wikipedia, Jay Shendure is an American scientist and human geneticist at the University of Washington. He is a professor in the Department of Genome Sciences at the University of Washington School of Medicine and an Affiliate Investigator in the Human Biology Division at the Fred Hutchinson Cancer Research Center. Shendure's research is focused on developing and applying new technologies in genomics. In 2005, his doctoral research with George M. Church resulted one of the first successful proof-of-concepts of next-generation DNA sequencing. Shendure's research group at the University of Washington pioneered exome sequencing and its application to Mendelian disorders, a strategy that has been applied to identify hundreds of disease-causing genes. Other notable accomplishments of Shendure's laboratory include the first whole genome sequencing of a human fetus using samples obtained non-invasively from the parents, and the sequencing of the HeLa genome in agreement with Henrietta Lacks' family.
Jay Shendure's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- A general framework for estimating the relative pathogenicity of human genetic variants (2014) (4810)
- Next-generation DNA sequencing (2008) (4350)
- Exome sequencing identifies the cause of a Mendelian disorder (2009) (2068)
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations (2012) (2002)
- The contribution of de novo coding mutations to autism spectrum disorder (2014) (1988)
- CADD: predicting the deleteriousness of variants throughout the human genome (2018) (1845)
- Exome sequencing as a tool for Mendelian disease gene discovery (2011) (1672)
- The complete genome sequence of a Neandertal from the Altai Mountains (2013) (1644)
- A High-Coverage Genome Sequence from an Archaic Denisovan Individual (2012) (1587)
- Targeted capture and massively parallel sequencing of 12 human exomes (2009) (1536)
- The single cell transcriptional landscape of mammalian organogenesis (2019) (1522)
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (2010) (1357)
- Guidelines for investigating causality of sequence variants in human disease (2014) (1160)
- Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer (2012) (1151)
- Accurate Multiplex Polony Sequencing of an Evolved Bacterial Genome (2005) (1144)
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders (2012) (1140)
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing (2010) (1072)
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2011) (1025)
- A Three-Dimensional Model of the Yeast Genome (2010) (939)
- Comprehensive single-cell transcriptional profiling of a multicellular organism (2017) (879)
- Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions (2013) (872)
- Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin (2016) (861)
- Multiplex single-cell profiling of chromatin accessibility by combinatorial cellular indexing (2015) (857)
- Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants (2012) (849)
- Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes (2009) (711)
- Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species (2013) (702)
- Target-enrichment strategies for next-generation sequencing (2010) (694)
- Genome evolution in the allotetraploid frog Xenopus laevis (2016) (691)
- Diversity of Human Copy Number Variation and Multicopy Genes (2010) (670)
- DNA sequencing at 40: past, present and future (2017) (645)
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes (2012) (609)
- Classification and characterization of microsatellite instability across 18 cancer types (2016) (603)
- Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development (2014) (599)
- Advanced sequencing technologies: methods and goals (2004) (590)
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 (2013) (583)
- Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data (2011) (578)
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. (2015) (552)
- Refining analyses of copy number variation identifies specific genes associated with developmental delay (2014) (536)
- Whole-organism lineage tracing by combinatorial and cumulative genome editing (2016) (527)
- Joint profiling of chromatin accessibility and gene expression in thousands of single cells (2018) (523)
- Target-enrichment strategies for next-generation sequencing (2010) (521)
- Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition (2010) (494)
- Massively parallel functional dissection of mammalian enhancers in vivo (2012) (483)
- Multiplex amplification of large sets of human exons (2007) (463)
- Fragment Length of Circulating Tumor DNA (2016) (457)
- A Single-Cell Atlas of In Vivo Mammalian Chromatin Accessibility (2018) (452)
- Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome (2017) (450)
- The 4D nucleome project (2017) (445)
- Accurate classification of BRCA1 variants with saturation genome editing (2018) (445)
- A de novo convergence of autism genetics and molecular neuroscience (2014) (413)
- Simultaneous single-cell profiling of lineages and cell types in the vertebrate brain (2017) (413)
- Massively multiplex single-cell Hi-C (2016) (402)
- Cicero Predicts cis-Regulatory DNA Interactions from Single-Cell Chromatin Accessibility Data. (2018) (397)
- The million mutation project: A new approach to genetics in Caenorhabditis elegans (2013) (370)
- The beginning of the end for microarrays? (2008) (340)
- Decoding long nanopore sequencing reads of natural DNA (2014) (332)
- Transcriptome-wide miR-155 binding map reveals widespread noncanonical microRNA targeting. (2012) (330)
- Noninvasive Whole-Genome Sequencing of a Human Fetus (2012) (326)
- Substantial inter-individual and limited intra-individual genomic diversity among tumors from men with metastatic prostate cancer (2016) (326)
- Global survey of escape from X inactivation by RNA-sequencing in mouse. (2010) (321)
- Long-read sequence assembly of the gorilla genome (2016) (318)
- GRIN2A mutations cause epilepsy-aphasia spectrum disorders (2013) (316)
- High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis (2009) (307)
- A human cell atlas of fetal gene expression (2020) (306)
- The expanding scope of DNA sequencing (2012) (305)
- Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation (2013) (302)
- A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens (2019) (302)
- The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line (2013) (298)
- A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer (2015) (298)
- Prediction of Susceptibility to First‐Line Tuberculosis Drugs by DNA Sequencing (2018) (295)
- Saturation Editing of Genomic Regions by Multiplex Homology-Directed Repair (2014) (290)
- A brief history of human disease genetics (2020) (288)
- Recurrent de novo mutations implicate novel genes underlying simplex autism risk (2014) (285)
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2012) (283)
- A Molecular Pathway Including Id2, Tbx5, and Nkx2-5 Required for Cardiac Conduction System Development (2007) (277)
- Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms (2011) (270)
- The human body at cellular resolution: the NIH Human Biomolecular Atlas Program (2019) (265)
- The cis-regulatory dynamics of embryonic development at single cell resolution (2017) (263)
- Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers (2011) (261)
- Supervised classification enables rapid annotation of cell atlases (2019) (257)
- Poxviruses Deploy Genomic Accordions to Adapt Rapidly against Host Antiviral Defenses (2012) (255)
- Substantial interindividual and limited intraindividual genomic diversity among tumors from men with metastatic prostate cancer (2016) (255)
- Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster (2011) (251)
- PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. (2015) (250)
- High-resolution comparative analysis of great ape genomes (2018) (250)
- Haplotype-resolved genome sequencing of a Gujarati Indian individual (2011) (244)
- De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome (2012) (242)
- Regional Isolation Drives Bacterial Diversification within Cystic Fibrosis Lungs. (2015) (240)
- Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing (2018) (238)
- Massively Parallel Functional Analysis of BRCA1 RING Domain Variants (2015) (234)
- Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer (2014) (228)
- Variant Interpretation: Functional Assays to the Rescue. (2017) (228)
- TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome (2012) (227)
- A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity (2016) (219)
- Genome-Scale Identification of Resistance Functions in Pseudomonas aeruginosa Using Tn-seq (2011) (216)
- GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome (2014) (216)
- Genomic surveillance reveals multiple introductions of SARS-CoV-2 into Northern California (2020) (216)
- Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia (2015) (213)
- Massively parallel exon capture and library-free resequencing across 16 genomes (2009) (209)
- CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores (2021) (205)
- The lncRNA Firre anchors the inactive X chromosome to the nucleolus by binding CTCF and maintains H3K27me3 methylation (2015) (204)
- Estimating human mutation rate using autozygosity in a founder population (2012) (202)
- Computational discovery of sense-antisense transcription in the human and mouse genomes (2002) (200)
- Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model (2013) (199)
- Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity (2015) (198)
- Fluorescent in situ sequencing on polymerase colonies. (2003) (197)
- Escape from X Inactivation Varies in Mouse Tissues (2015) (194)
- Rapid 16S rRNA Next-Generation Sequencing of Polymicrobial Clinical Samples for Diagnosis of Complex Bacterial Infections (2013) (194)
- Massively parallel sequencing and rare disease. (2010) (194)
- Bipartite structure of the inactive mouse X chromosome (2015) (194)
- Learning the Sequence Determinants of Alternative Splicing from Millions of Random Sequences (2015) (194)
- Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. (2016) (192)
- An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes (2015) (191)
- Single-nucleotide evolutionary constraint scores highlight disease-causing mutations (2010) (188)
- Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. (2013) (186)
- Identification of sex–specific quantitative trait loci controlling alcohol preference in C57BL/6 mice (1996) (183)
- Fine-scale chromatin interaction maps reveal the cis-regulatory landscape of human lincRNA genes (2014) (182)
- Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome (2011) (175)
- Species-Level Deconvolution of Metagenome Assemblies with Hi-C–Based Contact Probability Maps (2014) (172)
- Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. (2014) (171)
- Somatic mutations in cerebral cortical malformations. (2014) (171)
- Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History (2018) (170)
- Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. (2012) (170)
- Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia (2010) (170)
- A human cell atlas of fetal chromatin accessibility (2020) (169)
- Highly scalable generation of DNA methylation profiles in single cells (2018) (162)
- A Year of Infection in the Intensive Care Unit: Prospective Whole Genome Sequencing of Bacterial Clinical Isolates Reveals Cryptic Transmissions and Novel Microbiota (2015) (161)
- Selection analyses of insertional mutants using subgenic-resolution arrays (2001) (160)
- Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. (2012) (159)
- Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing (2014) (158)
- Towards a comprehensive catalogue of validated and target-linked human enhancers (2020) (157)
- Large-scale genomic sequencing of extraintestinal pathogenic Escherichia coli strains (2015) (156)
- megaTALs: a rare-cleaving nuclease architecture for therapeutic genome engineering (2013) (155)
- Tagmentation-based whole-genome bisulfite sequencing (2013) (155)
- LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. (2016) (154)
- Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (2014) (153)
- Digital genotyping and haplotyping with polymerase colonies (2003) (152)
- Massively multiplex chemical transcriptomics at single-cell resolution (2019) (146)
- Evidence for Limited Early Spread of COVID-19 Within the United States, January–February 2020 (2020) (146)
- Parallel, tag-directed assembly of locally derived short sequence reads (2010) (146)
- Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis (2013) (144)
- Haplotype-resolved genome sequencing: experimental methods and applications (2015) (140)
- Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data. (2017) (140)
- Overview of DNA Sequencing Strategies (2011) (139)
- The origins, determinants, and consequences of human mutations (2015) (138)
- In vitro, long-range sequence information for de novo genome assembly via transposase contiguity (2014) (133)
- MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing (2014) (132)
- Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. (2013) (132)
- Massively Parallel Single Amino Acid Mutagenesis (2014) (131)
- Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. (2013) (131)
- On the design of CRISPR-based single cell molecular screens (2018) (131)
- Methods for genomic partitioning. (2009) (130)
- RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease (2014) (123)
- Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms (2012) (123)
- A pooled single-cell genetic screen identifies regulatory checkpoints in the continuum of the epithelial-to-mesenchymal transition (2019) (120)
- PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (2016) (119)
- Cryptic transmission of SARS-CoV-2 in Washington state (2020) (116)
- Copy-number variation and false positive prenatal aneuploidy screening results. (2015) (116)
- Next generation sequence analysis for mitochondrial disorders (2009) (114)
- De novo TBR1 mutations in sporadic autism disrupt protein functions (2014) (113)
- Ultra-low-input, tagmentation-based whole-genome bisulfite sequencing (2012) (113)
- Genomic Medicine–Progress, Pitfalls, and Promise (2019) (112)
- De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. (2017) (111)
- Single Molecule Profiling of Alternative Pre-mRNA Splicing (2003) (111)
- De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. (2015) (111)
- The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions (2012) (110)
- Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. (2013) (110)
- A suppressor screen in mouse Mecp2 implicates cholesterol metabolism in Rett Syndrome (2013) (110)
- CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions. (2017) (109)
- Mutation discovery in mice by whole exome sequencing (2011) (109)
- Mechanisms of Interplay between Transcription Factors and the 3D Genome. (2019) (107)
- Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. (2008) (107)
- Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution (2019) (104)
- Massively parallel profiling and predictive modeling of the outcomes of CRISPR/Cas9-mediated double-strand break repair (2018) (103)
- Epitope insertion into variable loops of HIV-1 gp120 as a potential means to improve immunogenicity of viral envelope protein. (1999) (102)
- Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. (2014) (101)
- A suppressor screen in Mecp 2 mutant mice implicates cholesterol metabolism in Rett syndrome (2013) (100)
- Exome-wide DNA capture and next generation sequencing in domestic and wild species (2011) (100)
- PI 3 K / AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia (2015) (97)
- High-throughput determination of RNA structure by proximity ligation (2015) (96)
- The power of multiplexed functional analysis of genetic variants (2016) (95)
- Trans genomic capture and sequencing of primate exomes reveals new targets of positive selection. (2011) (95)
- Discovering functional transcription-factor combinations in the human cell cycle. (2005) (95)
- Early Detection of Covid-19 through a Citywide Pandemic Surveillance Platform (2020) (91)
- Single-cell lineage tracing of metastatic cancer reveals selection of hybrid EMT states. (2021) (90)
- MAT2A mutations predispose individuals to thoracic aortic aneurysms. (2015) (89)
- Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (2013) (86)
- Mammalian X upregulation is associated with enhanced transcription initiation, RNA half-life, and MOF-mediated H4K16 acetylation. (2013) (85)
- GWAS for quantitative resistance phenotypes in Mycobacterium tuberculosis reveals resistance genes and regulatory regions (2019) (84)
- Embryo-scale, single-cell spatial transcriptomics (2021) (84)
- Individual A High-Coverage Genome Sequence from an Archaic Denisovan (2012) (82)
- A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function. (2018) (82)
- Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue (2016) (81)
- Mapping 3D genome architecture through in situ DNase Hi-C (2016) (81)
- Long-range polony haplotyping of individual human chromosome molecules (2006) (80)
- MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect (2019) (80)
- Dynamics of genome reorganization during human cardiogenesis reveal an RBM20-dependent splicing factory (2019) (79)
- DNA Sequencing Predicts 1st-Line Tuberculosis Drug Susceptibility Profiles (2018) (76)
- Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures (2019) (76)
- Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. (2014) (76)
- FlashFry: a fast and flexible tool for large-scale CRISPR target design (2017) (75)
- FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. (2016) (74)
- Extraordinary Molecular Evolution in the PRDM9 Fertility Gene (2009) (73)
- Primate evolution of the recombination regulator PRDM9 (2014) (72)
- Precise genomic deletions using paired prime editing (2021) (70)
- Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. (2011) (70)
- Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. (2017) (69)
- The 4 D nucleome project (2017) (68)
- Mutations in ECEL1 cause distal arthrogryposis type 5D. (2013) (68)
- Mutation of ATF6 causes autosomal recessive achromatopsia (2015) (67)
- Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. (2014) (67)
- What Is Your Conceptual Definition of "Cell Type" in the Context of a Mature Organism? (2017) (66)
- Comparison of Symptoms and RNA Levels in Children and Adults With SARS-CoV-2 Infection in the Community Setting. (2021) (65)
- Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes (2014) (65)
- New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis (2018) (64)
- A major influence of sex-specific loci on alcohol preference in C57Bl/6 and DBA/2 inbred mice (1998) (64)
- Computational comparison of two draft sequences of the human genome (2001) (64)
- Identification of foreign gene sequences by transcript filtering against the human genome (2002) (64)
- Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study (2015) (63)
- Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain (2013) (62)
- Sci-fate characterizes the dynamics of gene expression in single cells (2020) (61)
- High-Throughput Single-Cell Sequencing with Linear Amplification. (2019) (60)
- A systematic evaluation of the design and context dependencies of massively parallel reporter assays (2020) (60)
- Predicting mRNA Abundance Directly from Genomic Sequence Using Deep Convolutional Neural Networks. (2020) (60)
- Condensin-Dependent Chromatin Compaction Represses Transcription Globally during Quiescence. (2019) (58)
- KIAA0586 is Mutated in Joubert Syndrome (2015) (58)
- Accurate gene synthesis with tag-directed retrieval of sequence-verified DNA molecules (2012) (58)
- High-content CRISPR screening (2022) (56)
- An essential cell cycle regulation gene causes hybrid inviability in Drosophila (2015) (55)
- Mutations in KCTD1 cause scalp-ear-nipple syndrome. (2013) (54)
- IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. (2009) (53)
- Functional testing of thousands of osteoarthritis-associated variants for regulatory activity (2018) (52)
- Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. (2013) (51)
- Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. (2014) (51)
- Accurate identification of centromere locations in yeast genomes using Hi-C (2015) (51)
- A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens (2019) (51)
- Next-generation human genetics (2011) (51)
- Predicting mRNA abundance directly from genomic sequence using deep convolutional neural networks (2018) (51)
- The dynamic three-dimensional organization of the diploid yeast genome (2016) (50)
- Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort (2015) (50)
- Understanding Spatial Genome Organization: Methods and Insights (2016) (49)
- Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. (2015) (49)
- Adaptive Gene Amplification As an Intermediate Step in the Expansion of Virus Host Range (2014) (49)
- Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia by next-generation sequencing (2014) (48)
- Sci-Hi-C: a single-cell Hi-C method for mapping 3D genome organization in large number of single cells (2019) (48)
- A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. (2014) (48)
- Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders (2015) (47)
- BRCA Testing by Single-Molecule Molecular Inversion Probes. (2017) (46)
- A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes. (2014) (46)
- Multiplex pairwise assembly of array-derived DNA oligonucleotides (2015) (45)
- Haplotype phasing of whole human genomes using bead-based barcode partitioning in a single tube (2017) (45)
- Exome Sequencing in Suspected Monogenic Dyslipidemias (2015) (44)
- Erratum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (Nature (2013) 493 (216-220) DOI: 10.1038/nature116) (2013) (44)
- A genome-wide 3C-method for characterizing the three-dimensional architectures of genomes. (2012) (44)
- Orientation-dependent Dxz4 contacts shape the 3D structure of the inactive X chromosome (2017) (44)
- Preliminary support for a "dry swab, extraction free" protocol for SARS-CoV-2 testing via RT-qPCR. (2020) (43)
- Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies (2015) (42)
- Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. (2016) (42)
- Elevated exopolysaccharide levels in Pseudomonas aeruginosa flagellar mutants have implications for biofilm growth and chronic infections (2020) (40)
- MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals (2014) (39)
- Systematic reconstruction of cellular trajectories across mouse embryogenesis (2022) (39)
- Challenges and solutions for gene identification in the presence of familial locus heterogeneity (2014) (38)
- Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay (2019) (37)
- Rare A2ML1 variants confer susceptibility to otitis media (2015) (37)
- Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma (2014) (37)
- lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements (2020) (37)
- Assaying chromosomal inversions by single-molecule haplotyping (2006) (37)
- Germline Missense Variants in the BTNL2 Gene Are Associated with Prostate Cancer Susceptibility (2013) (36)
- Capturing cell type-specific chromatin compartment patterns by applying topic modeling to single-cell Hi-C data (2020) (36)
- Systematic Dissection of Coding Exons at Single Nucleotide Resolution Supports an Additional Role in Cell-Specific Transcriptional Regulation (2014) (35)
- Massively parallel dissection of human accelerated regions in human and chimpanzee neural progenitors (2018) (35)
- Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington State (2020) (34)
- The Rhododendron Genome and Chromosomal Organization Provide Insight into Shared Whole-Genome Duplications across the Heath Family (Ericaceae) (2019) (33)
- Embryo model completes gastrulation to neurulation and organogenesis (2022) (33)
- Unsupervised manifold alignment for single-cell multi-omics data (2020) (33)
- Chromatin compartment dynamics in a haploinsufficient model of cardiac laminopathy (2019) (33)
- A Genomic Survey of SARS-CoV-2 Reveals Multiple Introductions into Northern California without a Predominant Lineage (2020) (32)
- Functional characterization of enhancer evolution in the primate lineage (2018) (32)
- Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation (2019) (32)
- Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. (2014) (31)
- ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients (2016) (31)
- Identification of a novel interspecific hybrid yeast from a metagenomic spontaneously inoculated beer sample using Hi-C (2017) (30)
- Whole genome prediction for preimplantation genetic diagnosis (2015) (30)
- Whole-Genome Sequencing for High-Resolution Investigation of Methicillin-Resistant Staphylococcus aureus Epidemiology and Genome Plasticity (2014) (30)
- Simultaneous digital quantification and fluorescence-based size characterization of massively parallel sequencing libraries. (2013) (29)
- A time-resolved, multi-symbol molecular recorder via sequential genome editing (2022) (28)
- Polony DNA Sequencing (2006) (26)
- Introduction and Historical Overview of DNA Sequencing (2011) (26)
- Discovery of T Cell Antigens by High-Throughput Screening of Synthetic Minigene Libraries (2012) (24)
- Recurrent somatic loss of TNFRSF14 in classical Hodgkin lymphoma (2016) (23)
- 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 (2015) (23)
- Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections (2016) (23)
- Single-molecule sequencing and conformational capture enable de novo mammalian reference genomes (2016) (23)
- SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features (2016) (22)
- Trans- and cis-acting effects of Firre on epigenetic features of the inactive X chromosome (2020) (21)
- Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, SLC35A1 (2017) (21)
- Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. (2017) (21)
- High Sensitivity Profiling of Chromatin Structure by MNase-SSP (2019) (21)
- A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair (2015) (21)
- Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington State (2021) (21)
- Accurate functional classification of thousands of BRCA1 variants with saturation genome editing (2018) (21)
- Chromatin accessibility dynamics of myogenesis at single cell resolution (2017) (20)
- Identifying Novel Enhancer Elements with CRISPR-Based Screens. (2018) (20)
- SwabExpress: An end-to-end protocol for extraction-free COVID-19 testing (2020) (20)
- Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population (2017) (20)
- Benchmarked approaches for reconstruction of in vitro cell lineages and in silico models of C. elegans and M. musculus developmental trees. (2021) (20)
- Massively Parallel Genetics (2016) (20)
- Sex-restricted non-Mendelian inheritance of mouse Chromosome 11 in the offspring of crosses between C57BL/6J and (C57BL/6J × DBA/2J)F1 mice (1998) (19)
- Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs). (2017) (19)
- A systematic evaluation of the design, orientation, and sequence context dependencies of massively parallel reporter assays (2019) (19)
- The landscape of alternative polyadenylation in single cells of the developing mouse embryo (2021) (19)
- The Seattle Flu Study: a multiarm community-based prospective study protocol for assessing influenza prevalence, transmission and genomic epidemiology (2020) (19)
- Using DNase Hi-C techniques to map global and local three-dimensional genome architecture at high resolution. (2018) (19)
- Expanding the Molecular and Clinical Phenotype of SSR4‐CDG (2015) (18)
- Targeted Enrichment of Specific Regions in the Human Genome by Array Hybridization (2010) (18)
- A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families (2016) (17)
- Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing (2014) (16)
- Biome representational in silico karyotyping. (2011) (16)
- Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability (2015) (16)
- A hybrid open-top light-sheet microscope for multi-scale imaging of cleared tissues (2020) (15)
- Non‐invasive fetal genome sequencing: Opportunities and challenges (2012) (14)
- Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation (2019) (14)
- Quantification of differential gene expression by multiplexed targeted resequencing of cDNA (2017) (14)
- A combination of transcription factors mediates inducible interchromosomal contacts (2019) (13)
- Scalable and efficient single-cell DNA methylation sequencing by combinatorial indexing (2017) (13)
- Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology (2020) (13)
- Rapid and accurate large-scale genotyping of duplicated genes and discovery of novel sites of interlocus gene conversion (2013) (13)
- Adaptations in Hippo-Yap signaling and myofibroblast fate underlie scar-free ear appendage wound healing in spiny mice. (2021) (13)
- Machine learning dissection of human accelerated regions in primate neurodevelopment (2022) (12)
- Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3 (2015) (12)
- Rapid cost-effective viral genome sequencing by V-seq (2020) (12)
- Corrigendum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (Nature Genetics (2011) 43, (585-589)) (2012) (11)
- Corrigendum: Classification and characterization of microsatellite instability across 18 cancer types (2017) (11)
- Genome sequencing in a case of Niemann–Pick type C (2016) (11)
- The continuum of Drosophila embryonic development at single-cell resolution (2022) (11)
- Trans- and cis-acting effects of the lncRNA Firre on epigenetic and structural features of the inactive X chromosome (2019) (11)
- A hybrid open-top light-sheet microscope for versatile multi-scale imaging of cleared tissues (2022) (11)
- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. (2018) (11)
- SARS-CoV-2 Epidemiology on a Public University Campus in Washington State (2021) (11)
- Multiplex genomic recording of enhancer and signal transduction activity in mammalian cells (2021) (11)
- Dynamic reorganization of nuclear architecture during human cardiogenesis (2017) (10)
- Genome interrupted: sequencing of prostate cancer reveals the importance of chromosomal rearrangements (2011) (10)
- Correction: A Year of Infection in the Intensive Care Unit: Prospective Whole Genome Sequencing of Bacterial Clinical Isolates Reveals Cryptic Transmissions and Novel Microbiota (2017) (9)
- Single-cell lineage and transcriptome reconstruction of metastatic cancer reveals selection of aggressive hybrid EMT states (2020) (9)
- Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP (2016) (9)
- Copy-Number Variation and False Positive Results of Prenatal Screening. (2015) (9)
- LB21. The Seattle Flu Study: A Community-Based Study of Influenza (2019) (9)
- Orientation-dependent Dxz4 contacts shape the 3D structure of the inactive X chromosome (2018) (9)
- Capturing native long-range contiguity by in situ library construction and optical sequencing (2012) (9)
- Concurrent genome and epigenome editing by CRISPR-mediated sequence replacement (2019) (9)
- A temporally resolved, multiplex molecular recorder based on sequential genome editing (2021) (8)
- Human genomics: A deep dive into genetic variation (2016) (8)
- Tagmentation-Based Library Preparation for Low DNA Input Whole Genome Bisulfite Sequencing. (2018) (8)
- Cancer genomes on a shoestring budget. (2009) (8)
- Saturation mutagenesis of disease-associated regulatory elements (2018) (8)
- Genome Sequencing of Idiopathic Pulmonary Fibrosis in Conjunction with a Medical School Human Anatomy Course (2014) (8)
- Characterizing the temporal dynamics of gene expression in single cells with sci-fate (2019) (8)
- Optimized single-nucleus transcriptional profiling by combinatorial indexing (2022) (7)
- Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis (2016) (7)
- Genomic surveillance of SARS-CoV-2 Omicron variants on a university campus (2022) (7)
- Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project (2016) (7)
- An optimized protocol for single cell transcriptional profiling by combinatorial indexing (2021) (7)
- Effects of weather-related social distancing on city-scale transmission of respiratory viruses: a retrospective cohort study (2021) (7)
- Sequencing thoroughbreds (2006) (6)
- Incidence of medically attended acute respiratory illnesses due to respiratory viruses across the life course during the 2018/19 influenza season (2021) (6)
- The Seattle Flu Study: a multi-arm community-based prospective study protocol for assessing influenza prevalence, transmission, and genomic epidemiology (2020) (6)
- Single-cell landscape of nuclear configuration and gene expression during stem cell differentiation and X inactivation (2020) (6)
- Overview of DNA Sequencing Strategies (2008) (6)
- Capturing cell type-specific chromatin structural patterns by applying topic modeling to single-cell Hi-C data (2019) (6)
- Voices in methods development (2019) (6)
- Identification of genes escaping X inactivation by allelic expression analysis in a novel hybrid mouse model (2015) (5)
- Multimodal single‐cell analysis reveals distinct radioresistant stem‐like and progenitor cell populations in murine glioma (2020) (5)
- TransMPRA: A framework for assaying the role of many trans-acting factors at many enhancers (2020) (5)
- What’s a Genome Worth? (2012) (5)
- High-throughput mapping of meiotic crossover and chromosome mis-segregation events in interspecific hybrid mice (2018) (5)
- SwabExpress: An End-to-End Protocol for Extraction-Free COVID-19 Testing (2021) (5)
- Genome wide association with quantitative resistance phenotypes in Mycobacterium tuberculosis reveals novel resistance genes and regulatory regions (2018) (5)
- Mapping 3 D genome architecture through in situ DNase (2016) (5)
- Comprehensive characterization of tissue-specific chromatin accessibility in L2 Caenorhabditis elegans nematodes (2020) (5)
- Systematic reconstruction of the cellular trajectories of mammalian embryogenesis (2021) (5)
- Life after genetics (2014) (5)
- Targeted resequencing in epileptic encephalopathies reveals marked genetic heterogeneity and novel genes (2013) (5)
- Interactions among 17 respiratory pathogens: a cross-sectional study using clinical and community surveillance data (2022) (5)
- Nanopore Sequencing of the phi X 174 genome (2014) (4)
- Identification of novel HLA class II target epitopes for generation of donor-specific T regulatory cells. (2012) (4)
- Publisher Correction: DNA sequencing at 40: past, present and future (2019) (4)
- Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements (2020) (4)
- A systematic evaluation of the design and context dependencies of massively parallel reporter assays (2020) (4)
- Trends in Risk Factors and Symptoms Associated With SARS-CoV-2 and Rhinovirus Test Positivity in King County, Washington, June 2020 to July 2022 (2022) (4)
- Corrigendum: The 4D nucleome project (2017) (4)
- Complex Minigene Library Vaccination for Discovery of Pre-Erythrocytic Plasmodium T Cell Antigens (2016) (4)
- The glucose-sensing transcription factor MLX balances metabolism and stress to suppress apoptosis and maintain spermatogenesis (2021) (4)
- Tethering distinct molecular profiles of single cells by their lineage histories to investigate sources of cell state heterogeneity (2022) (4)
- Running spell-check to identify regulatory variants (2015) (3)
- Deep molecular, cellular and temporal phenotyping of developmental perturbations at whole organism scale (2022) (3)
- Multiplex profiling of developmental enhancers with quantitative, single-cell expression reporters (2022) (3)
- crisprQTL mapping as a genome-wide association framework for cellular genetic screens (2018) (3)
- Expanding the single-cell genomics toolkit (2019) (3)
- Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States (2022) (3)
- Smash and DASH with Cas9 (2016) (3)
- Using DNase Hi-C techniques to map global and local three-dimensional genome architecture at high resolution (2017) (3)
- A multiplexed homology-directed DNA repair assay reveals the impact of ~1,700 BRCA1 variants on protein function (2018) (3)
- Condensin-dependent chromatin condensation represses transcription globally during quiescence (2018) (3)
- Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue (2016) (3)
- Comparable Specimen Collection from Both Ends of At-Home Midturbinate Swabs (2021) (2)
- Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation (2019) (2)
- The Seattle Flu Study: when regulations hinder pandemic surveillance (2021) (2)
- Paired CRISPR/Cas9 guide-RNAs enable high-throughput deletion scanning (ScanDel) of a Mendelian disease locus for functionally critical non-coding elements (2016) (2)
- Erratum: Haplotype-resolved genome sequencing of a Gujarati Indian individual (2011) (2)
- Comprehensive statistical inference of the clonal structure of cancer from multiple biopsies (2017) (2)
- Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements (2023) (2)
- Low pass genomes of 141,431 Chinese reveal patterns of viral infection, novel phenotypic associations, and the genetic history of China (2019) (2)
- Viral genome sequencing places White House COVID-19 outbreak into phylogenetic context (2020) (2)
- A reference cell tree will serve science better than a reference cell atlas (2023) (2)
- Genetic Variation Meets Replication Origins (2014) (2)
- Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. (2018) (2)
- Corrigendum: Massively parallel single-amino-acid mutagenesis (2017) (2)
- A combination of transcription factors mediates inducible interchromosomal pairing (2018) (2)
- Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development (2022) (2)
- Concurrent genome and epigenome editing by CRISPR-mediated sequence replacement (2019) (2)
- Learning the sequence determinants of alternative splicing from millions of random synthetic sequences (2015) (1)
- Whole organism lineage tracing by combinatorial and cumulative genome editing (2016) (1)
- Corrigendum: MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals. (2015) (1)
- Trends in risk factors and symptoms associated with SARS-CoV-2 and Rhinovirus test positivity in King County, Washington: A Test-Negative Design Study of the Greater Seattle Coronavirus Assessment Network (2022) (1)
- Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes (2014) (1)
- Suppressor mutations in Mecp2-null mice reveal that the DNA damage response is key to Rett syndrome pathology (2019) (1)
- MLX balances metabolism and stress to suppress apoptosis and maintain spermatogenesis (2020) (1)
- Erratum: Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without jeune asphyxiating thoracic dystrophy (American Journal of Human Genetics (2014) 94 (62-72)) (2014) (1)
- Comparable specimen collection from both ends of at-home mid-turbinate swabs (2020) (1)
- Results of Genetic Analysis of 11,341 Participants Enrolled in the My Life, Our Future (MLOF) Hemophilia Genotyping Initiative (2020) (1)
- Functional characterization of enhancer evolution in the primate lineage (2018) (1)
- Congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex (789.3) (2014) (1)
- Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing (2015) (1)
- 2012 Curt Stern Award address. (2013) (1)
- Faculty Opinions recommendation of A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. (2012) (1)
- Mapping the emergence of SARS-CoV-2 Omicron variants on a university campus (2022) (1)
- Author response: A combination of transcription factors mediates inducible interchromosomal contacts (2019) (1)
- Human iPSC Derived Enamel Organoid Guided by Single-Cell Atlas of Human Tooth Development (2022) (1)
- Genome Accurate Multiplex Polony Sequencing of an Evolved Bacterial (2012) (1)
- Proteostasis governs differential temperature sensitivity across embryonic cell types (2022) (1)
- Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands (2020) (1)
- Massively multiplex single-cell Hi-C by combinatorial indexing (2017) (1)
- Single-cell analysis of chromatin and expression reveals age- and sex-associated alterations in the human heart (2022) (1)
- Selection on bristle length has the ability to drive the evolution of male abdominal appendages in the sepsid fly (2016) (1)
- The State of Whole-Genome Sequencing (2017) (1)
- Multiregion transcriptomic profiling of the primate brain reveals signatures of aging and the social environment (2022) (1)
- Quantitative Missense Var iant Effect Prediction Using Large-Scale Mutagenesis Data Graphical (2018) (0)
- Leading Edge Perspective Genomic Medicine – Progress , Pitfalls , and Promise (2019) (0)
- Modulation of FGF pathway signaling and vascular differentiation using designed oligomeric assemblies (2023) (0)
- 9 th European Cytogenetics Conference 29 June – 2 July 2013 , Dublin ‐ Ireland (2013) (0)
- Contents page + Editorial Board + Cover figure legend (2014) (0)
- Guiding Philosophies for Running a Lab (2014) (0)
- Chromatin context-dependent regulation and epigenetic manipulation of prime editing (2023) (0)
- Evolved Bacterial Genome Accurate Multiplex Polony (2008) (0)
- 3030 – THE EPIGENETIC REGULATOR LANDSCAPE OF STEMNESS NETWORKS IN ACUTE MYELOID LEUKEMIA (2022) (0)
- High Density Domain-Focused CRISPR Screens Reveal Novel Epigenetic Regulators of HOX/MEIS Activation in Acute Myeloid Leukemia (2023) (0)
- Phosphoproteomics and gene expression profiling reveals systems-wide changes in response to EGF receptor activation (2015) (0)
- Expanding the single-cell genomics toolkit (2019) (0)
- A single-cell transcriptional timelapse of mouse embryonic development, from gastrula to pup (2023) (0)
- Balance of the x restored: evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster (2011) (0)
- Kabuki syndrome missense mutations disrupt the formation and histone methyltransferase activity of the MLL2 core complex (2013) (0)
- A combination of transcription factors mediates 1 inducible interchromosomal contacts 2 3 (0)
- Supplementary materials and methods and supplementary references. (2020) (0)
- Toward Routine Genetics-Based Diagnoses for the Epileptic Encephalopathies (2014) (0)
- Astronomy: Hot spectra (2010) (0)
- A single-cell multi-omic atlas spanning the adult rhesus macaque brain (2022) (0)
- GENOME REPORT: Chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus) (2023) (0)
- Erratum to “Fluorescent in situ sequencing on polymerase colonies” [Anal. Biochem. 320 (2003) 55–65] (2004) (0)
- Towards a comprehensive catalogue of validated and target-linked human enhancers (2020) (0)
- Multiplex single-cell chemical genomics reveals the kinase dependence of the response to targeted therapy (2023) (0)
- Atmospheric science: Stronger storms (2010) (0)
- Programmable peroxidase-assisted signal amplification enables flexible detection of nucleic acid targets in cellular and histopathological specimens (2023) (0)
- Are Somatic Mutations in Cortical Development the One Bad Apple That Spoils the Bunch (2015) (0)
- Future Challenges and Functional Consequences (2016) (0)
- FlashFry: a fast and flexible tool for large-scale CRISPR target design (2018) (0)
- Faculty Opinions recommendation of Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. (2012) (0)
- Diversity And Prevalence Of Microorganisms At Healthy Ocular Surface (2011) (0)
- Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
- Dynamics of genome reorganization during human cardiogenesis reveal an RBM20-dependent splicing factory (2019) (0)
- Journal club (2010) (0)
- Simultaneous Identification of Brain Cell Type and Lineage via Single Cell RNA Sequencing (2021) (0)
- Upregulation of the mammalian X chromosome is associated with enhanced transcription initiation , MOF-mediated H 4 K 16 acetylation , and longer RNA half-life (2013) (0)
- Results of whole-genome analysis from National Children's Study (NCS) (2014) (0)
- Non-Invasive Fetal Genome Sequencing: Opportunities and Challenges (2020) (0)
- Construction and evolution of an artificial microbial symbiotic system (2005) (0)
- A brief history of human disease genetics (2020) (0)
- Bipartite structure of the inactive mouse X chromosome (2015) (0)
- Mosaic and constitutional mutations of MTOR cause a spectrum of developmental brain disorders from focal cortical dysplasia to diffuse megalencephaly (2016) (0)
- Oncogenic role of a developmentally regulated NTRK2 splice variant (2022) (0)
- Single-cell landscape of nuclear configuration and gene expression during stem cell differentiation and X inactivation (2021) (0)
- Correction: Corrigendum: Classification and characterization of microsatellite instability across 18 cancer types (2018) (0)
- Resource High Sensitivity Profiling o f Chromatin Structure by MNase-SSP Graphical Abstract Highlights (2019) (0)
- Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome (2017) (0)
- Next-generation human genetics (2011) (0)
- Novel Approach to and Results of Genetic Analysis of 3000 Hemophilia Patients Enrolled in the MyLifeOurFuture Initiative (2016) (0)
- The single-cell transcriptional landscape of mammalian organogenesis (2019) (0)
- Life after genetics (2014) (0)
- Next generation anatomy: integrating whole genome sequencing within the human anatomy curriculum (723.2) (2014) (0)
- Systematic reconstruction of cellular trajectories across mouse embryogenesis (2022) (0)
- lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements (2020) (0)
- App processing genes case-control screening and functional analysis in Alzheimer’s disease (2015) (0)
- De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay (2015) (0)
- Efficient and highly amplified imaging of nucleic acid targets in cellular and histopathological samples with pSABER (2023) (0)
- P3) Next Generation Human Genetics. (2013) (0)
- New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis (2018) (0)
- Smash and DASH with Cas9 (2016) (0)
- Local-Scale phylodynamics reveal differential community impact of SARS-CoV-2 in metropolitan US county (2022) (0)
- Multiplex assessment of protein variant abundance by massively parallel sequencing (2018) (0)
- Abstract 5059: Exome and targeted sequencing to discover and validate candidate genes in advanced and lethal prostate cancer (2012) (0)
- Decoding Long Nanopore Reads of Bacteriophage Phi X 174 (2015) (0)
- Simultaneous brain cell type and lineage determined by scRNA-seq reveals stereotyped cortical development. (2022) (0)
- Educational Research Seminar Series Cystic Fibrosis Research and Translation Center and Research Development Program (2012) (0)
- Evasion of the African green monkey protein kinase R pathway by mutation of vaccinia virus RNA polymerase (2016) (0)
- The lncRNA Firre anchors the inactive X chromosome to the nucleolus by binding CTCF and maintains H3K27me3 methylation (2015) (0)
- 1456. Environmental and Nasal Pathogen Surveillance in Seattle Area Homeless Shelters (2022) (0)
- A continuous model of early mammalian development (2021) (0)
- SARS-CoV-2 Screening Testing in Schools: A Comparison of School- Vs. Home-Based Collection Methods (2022) (0)
- Comprehensive statistical inference of the clonal structure of cancer from multiple biopsies (2017) (0)
- Mutation of ATF6 causes autosomal recessive achromatopsia (2015) (0)
- High-Capacity Sample Multiplexing for Single Cell Chromatin Accessibility Profiling (2023) (0)
- Next-generation human genetics (2011) (0)
- Principles of Systems Biology, No. 21. (2017) (0)
- Global Characterization of Protein Altering Mutations in Prostate Cancer (2011) (0)
- Benchmarked approaches for cell lineage reconstructions of in vitro dividing cells and in 1 silico models of Caenorhabditis elegans and Mus musculus developmental trees (2021) (0)
- Results from a test‐and‐treat study for influenza among residents of homeless shelters in King County, WA: A stepped‐wedge cluster‐randomized trial (2023) (0)
- Sci-fate characterizes the dynamics of gene expression in single cells (2020) (0)
- Resource A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens Graphical (2019) (0)
- Accurate classification of BRCA1 variants with saturation genome editing (2018) (0)
- Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011) (2008) (0)
- Evolved Bacterial Genome Accurate Multiplex Polony Sequencing of an (2010) (0)
- Publisher Correction: DNA sequencing at 40: past, present and future (2019) (0)
- High-throughput Screening for CD8+ T Cell Epitopes Targeted in Type 1 Diabetes (2010) (0)
- Flexible and scalable control of T cell memory by a reversible epigenetic switch (2023) (0)
- 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 (2015) (0)
- Neurobiology: Prions at work (2010) (0)
- Missense Variants in the BTNL 2 Gene Are Associated with Prostate Cancer Susceptibility (2013) (0)
- An Integrated Approach for Prioritizing Causal Variants in Whole Exome and Whole Genome Sequencing (2013) (0)
- CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores (2021) (0)
- Cancer biology: Weighted cancer risk (2010) (0)
- Whole genome prediction for preimplantation genetic diagnosis (2015) (0)
- Miniaturized, high-density, bead-based arrays are provided. Methods of producing and using clonal beads and producing and using miniaturized, high density, bead-based arrays are also provided. (2008) (0)
- Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types (2023) (0)
- Next generation sequencing coupled to functional genomics implicates FOXP pathways in autism and language impairment (2012) (0)
- Abstract PR004: High-density CRISPR screens reveal mechanisms of chromatin regulation of stemness networks in acute myeloid leukemia (2022) (0)
- Functional testing of thousands of osteoarthritis-associated variants for regulatory activity (2019) (0)
- EPILEPSY-APHASIA SPECTRUM DISORDERS ARE CAUSED BY MUTATIONS IN GRIN2A (2013) (0)
- sci-RNA-seq2 Pipeline for the Human Biomolecular Atlas Program (HuBMAP) v1 (2020) (0)
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