Shendure, Jay

Publication with MATCHING institution:

Hansen C, Perofsky AC, Burstein R, ..., Viboud C (2022) Trends in Risk Factors and Symptoms Associated With SARS-CoV-2
and Rhinovirus Test Positivity in King County, Washington, June 2020 to July 2022. JAMA network open. [IF=3.181,
Cited=8, 36484987].
Mirzaa GM, Campbell CD, Solovieff N, ..., Dobyns WB (2016) Association of MTOR Mutations With Developmental Brain
Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurology. [IF=5.982,
Cited=127, 27159400].
Chung E, Chow EJ, Wilcox NC, ..., Chu HY (2021) Comparison of Symptoms and RNA Levels in Children and Adults With SARS-
CoV-2 Infection in the Community Setting. JAMA Pediatrics. [IF=5.649, Cited=52, 34115094].
Shendure J, Porreca GJ, Church GM (2008) Overview of DNA sequencing strategies. Current Protocols in Molecular Biology.
[IF=0.961, Cited=12, 18231983].
Shendure J, Porreca GJ, Church GM, ..., Slatko BE (2011) Overview of DNA sequencing strategies. Current Protocols in
Molecular Biology. [IF=0.961, Cited=12, 21987056].
Igartua C, Turner EH, Ng SB, ..., Shendure J (2010) Targeted enrichment of specific regions in the human genome by array
hybridization. Current Protocols in Human Genetics. [IF=2.224, Cited=11, 20582915].
Wheeler PG, Ng BG, Sanford L, ..., Freeze HH (2016) SRD5A3-CDG: Expanding the phenotype of a congenital disorder of
glycosylation with emphasis on adult onset features. American Journal of Medical Genetics, Part A. [IF=1.165, Cited=13, 27480077].
Ng BG, Asteggiano CG, Kircher M, ..., Freeze HH (2017) Encephalopathy caused by novel mutations in the CMP-sialic acid
transporter, SLC35A1. American Journal of Medical Genetics, Part A. [IF=1.165, Cited=15, 28856833].
D'Gama AM, Geng Y, Couto JA, ..., Poduri A (2015) Mammalian target of rapamycin pathway mutations cause
hemimegalencephaly and focal cortical dysplasia. Annals of Neurology. [IF=2.769, Cited=142, 25599672].
Salipante SJ, Adey A, Thomas A, ..., Shendure J (2015) Recurrent somatic loss of TNFRSF14 in classical Hodgkin lymphoma.
Genes Chromosomes and Cancer. [IF=1.173, Cited=13, 26650888].
Alexander J, LaPlant QC, Pattwell SS, ..., Holland EC (2020) Multimodal single-cell analysis reveals distinct
radioresistant stem-like and progenitor cell populations in murine glioma. GLIA. [IF=1.358, Cited=9, 32621641].
Bachmann-Gagescu R, Phelps IG, Dempsey JC, ..., Doherty D (2015) KIAA0586 is Mutated in Joubert Syndrome. Human
Mutation. [IF=1.507, Cited=44, 26096313].
Ng BG, Raymond K, Kircher M, ..., Freeze HH (2015) Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human
Mutation. [IF=1.507, Cited=14, 26264460].
Ng BG, Shiryaev SA, Rymen D, ..., Freeze HH (2016) ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported
Patients. Human Mutation. [IF=1.507, Cited=29, 26931382].
Shigaki D, Adato O, Adhikari AN, ..., Beer MA (2019) Integration of multiple epigenomic marks improves prediction of
variant impact in saturation mutagenesis reporter assay. Human Mutation. [IF=1.507, Cited=28, 31106481].
Ng BG, Lourenço CM, Losfeld ME, ..., Freeze HH (2019) Mutations in the translocon-associated protein complex subunit
SSR3 cause a novel congenital disorder of glycosylation. Journal of Inherited Metabolic Disease. [IF=1.865, Cited=10, 30945312].
Snyder MW, Simmons LE, Kitzman JO, ..., Shendure J (2013) Noninvasive fetal genome sequencing: a primer. Prenatal
Diagnosis. [IF=1.248, Cited=15, 23553552].
Smukowski Heil C, Burton JN, Liachko I, ..., Dunham MJ (2017) Identification of a novel interspecific hybrid yeast from
a metagenomic spontaneously inoculated beer sample using Hi-C. Yeast. [IF=0.782, Cited=14, 28892574].
Ng BG, Underhill HR, Palm L, ..., Eklund EA (2018) DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and
Genetic Description of 11 New Patients. JIMD Reports. [IF=0.731, Cited=8, 30117111].
Cantsilieris S, Stessman HA, Shendure J, Eichler EE (2017) Targeted Capture and High-Throughput Sequencing Using
Molecular Inversion Probes (MIPs). Methods in Molecular Biology. [IF=0.413, Cited=12, 27822858].
Weichenhan D, Wang Q, Adey A, ..., Plass C (2018) Tagmentation-Based Library Preparation for Low DNA Input Whole Genome
Bisulfite Sequencing. Methods in Molecular Biology. [IF=0.413, Cited=2, 29224141].
Alazami AM, Al-Qattan SM, Faqeih E, ..., Alkuraya FS (2016) Expanding the clinical and genetic heterogeneity of
hereditary disorders of connective tissue. Human Genetics. [IF=1.653, Cited=59, 27023906].
Mirzaa GM, Conti V, Timms AE, ..., Guerrini R (2015) Characterisation of mutations of the phosphoinositide-3-kinase
regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. The Lancet Neurology.
[IF=13.538, Cited=38, 26520804].
Shendure J (2013) 2012 Curt Stern Award address. American Journal of Human Genetics. [IF=2.607, Cited=0, 23472756].
Tuz K, Bachmann-Gagescu R, O'Day DR, ..., Ferland RJ (2013) Mutations in CSPP1 cause primary cilia abnormalities and
Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics. [IF=2.607,
Cited=78, 24360808].
He Z, O'Roak BJ, Smith JD, ..., Leal SM (2013) Rare-variant extensions of the transmission disequilibrium test:
application to autism exome sequence data. American Journal of Human Genetics. [IF=2.607, Cited=51, 24360806].
Rehman AU, Santos-Cortez RLP, Morell RJ, ..., Friedman TB (2014) Mutations in TBC1D24, a gene associated with epilepsy,
also cause nonsyndromic deafness DFNB86. American Journal of Human Genetics. [IF=2.607, Cited=51, 24387994].
McMillin MJ, Beck AE, Chong JX, ..., Bamshad MJ (2014) Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker
syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics. [IF=2.607, Cited=108, 24726473].
Guo Dc, Gong L, Regalado ES, ..., Milewicz DM (2014) MAT2A mutations predispose individuals to thoracic aortic
aneurysms. American Journal of Human Genetics. [IF=2.607, Cited=56, 25557781].
Chong JX, McMillin MJ, Shively KM, ..., Bamshad MJ (2015) De novo mutations in NALCN cause a syndrome characterized by
congenital contractures of the limbs and face, hypotonia, and developmental delay. American Journal of Human Genetics.
[IF=2.607, Cited=81, 25683120].
Chong JX, Burrage LC, Beck AE, ..., Bamshad MJ (2015) Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by
Mutations in MYH3. American Journal of Human Genetics. [IF=2.607, Cited=36, 25957469].
Chong JX, Buckingham KJ, Jhangiani SN, ..., Bamshad MJ (2015) The Genetic Basis of Mendelian Phenotypes: Discoveries,
Challenges, and Opportunities. American Journal of Human Genetics. [IF=2.607, Cited=358, 26166479].
Gasperini M, Findlay GM, McKenna A, ..., Shendure J (2017) CRISPR/Cas9-Mediated Scanning for Regulatory Elements
Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions. American Journal of Human Genetics.
[IF=2.607, Cited=84, 28712454].
Starita LM, Ahituv N, Dunham MJ, ..., Fowler DM (2017) Variant Interpretation: Functional Assays to the Rescue. American
Journal of Human Genetics. [IF=2.607, Cited=175, 28886340].
Küry S, van Woerden GM, Besnard T, ..., Mercier S (2017) De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B
Cause Intellectual Disability. American Journal of Human Genetics. [IF=2.607, Cited=79, 29100089].
Starita LM, Islam MM, Banerjee T, ..., Parvin JD (2018) A Multiplex Homology-Directed DNA Repair Assay Reveals the
Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function. American Journal of Human Genetics.
[IF=2.607, Cited=63, 30219179].
Simeonov KP, Byrns CN, Clark ML, ..., Lengner CJ (2021) Single-cell lineage tracing of metastatic cancer reveals
selection of hybrid EMT states. Cancer Cell. [IF=5.274, Cited=105, 34115987].
Bernier R, Golzio C, Xiong B, ..., Eichler EE (2014) Disruptive CHD8 mutations define a subtype of autism early in
development. Cell. [IF=8.479, Cited=425, 24998929].
Hause RJ, Shendure J (2014) Genetic variation meets replication origins. Cell. [IF=8.479, Cited=1, 25416936].
Rosenberg AB, Patwardhan RP, Shendure J, Seelig G (2015) Learning the sequence determinants of alternative splicing from
millions of random sequences. Cell. [IF=8.479, Cited=139, 26496609].
Snyder MW, Kircher M, Hill AJ, ..., Shendure J (2016) Cell-free DNA Comprises an In Vivo Nucleosome Footprint that
Informs Its Tissues-Of-Origin. Cell. [IF=8.479, Cited=646, 26771485].
Cusanovich DA, Hill AJ, Aghamirzaie D, ..., Shendure J (2018) A Single-Cell Atlas of In Vivo Mammalian Chromatin
Accessibility. Cell. [IF=8.479, Cited=364, 30078704].
Liu S, Huang S, Chen F, ..., Xu X (2018) Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic
Associations, Patterns of Viral Infections, and Chinese Population History. Cell. [IF=8.479, Cited=101, 30290141].
Gasperini M, Hill AJ, McFaline-Figueroa JL, ..., Shendure J (2019) A Genome-wide Framework for Mapping Gene Regulation
via Cellular Genetic Screens. Cell. [IF=8.479, Cited=217, 30612741].
Shendure J, Findlay GM, Snyder MW (2019) Genomic Medicine-Progress, Pitfalls, and Promise. Cell. [IF=8.479, Cited=66, 30901547].
Domcke S, Shendure J (2023) A reference cell tree will serve science better than a reference cell atlas. Cell.
[IF=8.479, Cited=18, 36931241].
Dorrity MW, Saunders LM, Duran M, ..., Trapnell C (2023) Proteostasis governs differential temperature sensitivity
across embryonic cell types. Cell. [IF=8.479, Cited=1, 37949057].
Li X, Chen W, Martin BK, ..., Shendure J (2024) Chromatin context-dependent regulation and epigenetic manipulation of
prime editing. Cell. [IF=8.479, Cited=7, 38608704].
Edman NI, Phal A, Redler RL, ..., Baker D (2024) Modulation of FGF pathway signaling and vascular differentiation using
designed oligomeric assemblies. Cell. [IF=8.479, Cited=0, 38861993].
Ramani V, Qiu R, Shendure J (2019) High Sensitivity Profiling of Chromatin Structure by MNase-SSP. Cell Reports.
[IF=1.738, Cited=18, 30811994].
Agarwal V, Shendure J (2020) Predicting mRNA Abundance Directly from Genomic Sequence Using Deep Convolutional Neural
Networks. Cell Reports. [IF=1.738, Cited=68, 32433972].
Gray VE, Hause RJ, Luebeck J, ..., Fowler DM (2017) Quantitative Missense Variant Effect Prediction Using Large-Scale
Mutagenesis Data. Cell Systems. [IF=1.971, Cited=87, 29226803].
Gong W, Granados AA, Hu J, ..., Meyer P (2021) Benchmarked approaches for reconstruction of in vitro cell lineages and
in silico models of C. elegans and M. musculus developmental trees. None. [IF=None, Cited=17, 34146472].
Anderson DJ, Pauler FM, McKenna A, ..., Horwitz MS (2022) Simultaneous brain cell type and lineage determined by scRNA-
seq reveals stereotyped cortical development. None. [IF=None, Cited=0, 35452605].
Jorth P, Staudinger BJ, Wu X, ..., Singh PK (2015) Regional Isolation Drives Bacterial Diversification within Cystic
Fibrosis Lungs. None. [IF=None, Cited=187, 26299432].
Brewer CM, Nelson BR, Wakenight P, ..., Majesky MW (2021) Adaptations in Hippo-Yap signaling and myofibroblast fate
underlie scar-free ear appendage wound healing in spiny mice. Developmental Cell. [IF=2.256, Cited=22, 34610329].
Alghadeer A, Hanson-Drury S, Patni AP, ..., Ruohola-Baker H (2023) Single-cell census of human tooth development enables
generation of human enamel. Developmental Cell. [IF=2.256, Cited=8, 37582367].
Berletch JB, Ma W, Yang F, ..., Deng X (2015) Identification of genes escaping X inactivation by allelic expression
analysis in a novel hybrid mouse model. Data in Brief. [IF=0.928, Cited=6, 26693509].
Ramani V, Shendure J, Duan Z (2016) Understanding Spatial Genome Organization: Methods and Insights. None. [IF=None,
Cited=30, 26876719].
Abadie K, Clark EC, Valanparambil RM, ..., Kueh HY (2024) Reversible, tunable epigenetic silencing of TCF1 generates
flexibility in the T cell memory decision. Immunity. [IF=5.119, Cited=1, 38301652].
Nathans JF, Ayers JL, Shendure J, Simpson CL (2024) Genetic Tools for Cell Lineage Tracing and Profiling Developmental
Trajectories in the Skin. None. [IF=None, Cited=0, 38643988].
Shinsky SA, Hu M, Vought VE, ..., Cosgrove MS (2014) A non-active-site SET domain surface crucial for the interaction of
MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes. Journal of Molecular Biology. [IF=1.281,
Cited=30, 24680668].
Simon MT, Ng BG, Friederich MW, ..., Abdenur JE (2017) Activation of a cryptic splice site in the mitochondrial
elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. [IF=0.992, Cited=11, 28216230].
Pliner HA, Packer JS, McFaline-Figueroa JL, ..., Trapnell C (2018) Cicero Predicts cis-Regulatory DNA Interactions from
Single-Cell Chromatin Accessibility Data. Molecular Cell. [IF=2.773, Cited=322, 30078726].
Swygert SG, Kim S, Wu X, ..., Tsukiyama T (2018) Condensin-Dependent Chromatin Compaction Represses Transcription
Globally during Quiescence. Molecular Cell. [IF=2.773, Cited=48, 30595435].
Yin Y, Jiang Y, Lam KWG, ..., Shendure J (2019) High-Throughput Single-Cell Sequencing with Linear Amplification.
Molecular Cell. [IF=2.773, Cited=45, 31495564].
Kim S, Shendure J (2019) Mechanisms of Interplay between Transcription Factors and the 3D Genome. Molecular Cell.
[IF=2.773, Cited=93, 31521504].
Dekker J, Alber F, Aufmkolk S, ..., Zhong S (2023) Spatial and temporal organization of the genome: Current state and
future aims of the 4D nucleome project. Molecular Cell. [IF=2.773, Cited=9, 37419111].
Rai V, Quang DX, Erdos MR, ..., Collins FS (2019) Single-cell ATAC-Seq in human pancreatic islets and deep learning
upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures. Molecular Metabolism. [IF=1.779,
Cited=58, 32029221].
Whalen S, Inoue F, Ryu H, ..., Pollard KS (2023) Machine learning dissection of human accelerated regions in primate
neurodevelopment. Neuron. [IF=3.346, Cited=16, 36640767].
Milewicz DM, Regalado ES, Shendure J, ..., Guo Dc (2013) Successes and challenges of using whole exome sequencing to
identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.
Trends in Cardiovascular Medicine. [IF=2.356, Cited=27, 23953976].
Krumm N, O'Roak BJ, Shendure J, Eichler EE (2013) A de novo convergence of autism genetics and molecular neuroscience.
None. [IF=None, Cited=281, 24387789].
McFaline-Figueroa JL, Srivatsan S, Hill AJ, ..., Trapnell C (2024) Multiplex single-cell chemical genomics reveals the
kinase dependence of the response to targeted therapy. Cell Genomics. [IF=2.669, Cited=2, 38278156].
Thirimanne HN, Almiron-Bonnin D, Nuechterlein N, ..., Holland EC (2024) Meningioma transcriptomic landscape demonstrates
novel subtypes with regional associated biology and patient outcome. Cell Genomics. [IF=2.669, Cited=0, 38788713].
Ma W, Ay F, Lee C, ..., Duan Z (2018) Using DNase Hi-C techniques to map global and local three-dimensional genome
architecture at high resolution. Methods. [IF=0.927, Cited=9, 29382556].
Ramani V, Deng X, Qiu R, ..., Duan Z (2019) Sci-Hi-C: A single-cell Hi-C method for mapping 3D genome organization in
large number of single cells. Methods. [IF=0.927, Cited=35, 31536770].
Klein JC, Chen W, Gasperini M, Shendure J (2018) Identifying Novel Enhancer Elements with CRISPR-Based Screens. ACS
Chemical Biology. [IF=0.963, Cited=16, 29300083].
Shendure J (2010) Journal club. A geneticist discusses a way to assess the effects of disease-causing gene mutations.
Nature. [IF=11.591, Cited=0, 20110948].
Shendure J (2016) Human genomics: A deep dive into genetic variation. Nature. [IF=11.591, Cited=5, 27535530].
Rehman AU, Santos-Cortez RLP, Drummond MC, ..., Leal SM (2014) Challenges and solutions for gene identification in the
presence of familial locus heterogeneity. European Journal of Human Genetics. [IF=1.676, Cited=27, 25491636].
Ansar M, Jan A, Santos-Cortez RLP, ..., Leal SM (2015) Expansion of the spectrum of ITGB6-related disorders to
adolescent alopecia, dentogingival abnormalities and intellectual disability. European Journal of Human Genetics.
[IF=1.676, Cited=11, 26695873].
Kan M, Auer PL, Wang GT, ..., Leal SM (2016) Rare variant associations with waist-to-hip ratio in European-American and
African-American women from the NHLBI-Exome Sequencing Project. European Journal of Human Genetics. [IF=1.676, Cited=3, 26757982].
Shaheen R, Patel N, Shamseldin H, ..., Alkuraya FS (2015) Accelerating matchmaking of novel dysmorphology syndromes
through clinical and genomic characterization of a large cohort. Genetics in Medicine. [IF=2.761, Cited=29, 26633546].
Salipante SJ, Fromm JR, Shendure J, ..., Wu D (2014) Detection of minimal residual disease in NPM1-mutated acute myeloid
leukemia by next-generation sequencing. Modern Pathology. [IF=2.351, Cited=31, 24743218].
Prüfer K, Racimo F, Patterson N, ..., Pääbo S (2013) The complete genome sequence of a Neanderthal from the Altai
Mountains. Nature. [IF=11.591, Cited=877, 24352235].
MacArthur DG, Manolio TA, Dimmock DP, ..., Gunter C (2014) Guidelines for investigating causality of sequence variants
in human disease. Nature. [IF=11.591, Cited=775, 24759409].
Findlay GM, Boyle EA, Hause RJ, ..., Shendure J (2014) Saturation editing of genomic regions by multiplex homology-
directed repair. Nature. [IF=11.591, Cited=205, 25141179].
Iossifov I, O'Roak BJ, Sanders SJ, ..., Wigler M (2014) The contribution of de novo coding mutations to autism spectrum
disorder. Nature. [IF=11.591, Cited=1000, 25363768].
Session AM, Uno Y, Kwon T, ..., Rokhsar DS (2016) Genome evolution in the allotetraploid frog Xenopus laevis. Nature.
[IF=11.591, Cited=485, 27762356].
Dekker J, Belmont AS, Guttman M, ..., Zhong S (2017) The 4D nucleome project. Nature. [IF=11.591, Cited=319, 28905911].
Shendure J, Balasubramanian S, Church GM, ..., Waterston RH (2017) DNA sequencing at 40: past, present and future.
Nature. [IF=11.591, Cited=311, 29019985].
Cusanovich DA, Reddington JP, Garfield DA, ..., Furlong EEM (2018) The cis-regulatory dynamics of embryonic development
at single-cell resolution. Nature. [IF=11.591, Cited=176, 29539636].
Shendure J, Lieberman Aiden E (2012) The expanding scope of DNA sequencing. Nature Biotechnology. [IF=8.861, Cited=145, 23138308].
Laszlo AH, Derrington IM, Ross BC, ..., Gundlach JH (2014) Decoding long nanopore sequencing reads of natural DNA.
Nature Biotechnology. [IF=8.861, Cited=187, 24964173].
Ramani V, Qiu R, Shendure J (2015) High-throughput determination of RNA structure by proximity ligation. Nature
Biotechnology. [IF=8.861, Cited=67, 26237516].
Zhang F, Christiansen L, Thomas J, ..., Steemers FJ (2017) Haplotype phasing of whole human genomes using bead-based
barcode partitioning in a single tube. Nature Biotechnology. [IF=8.861, Cited=24, 28650462].
Raj B, Wagner DE, McKenna A, ..., Schier AF (2018) Simultaneous single-cell profiling of lineages and cell types in the
vertebrate brain. Nature Biotechnology. [IF=8.861, Cited=271, 29608178].
Mulqueen RM, Pokholok D, Norberg SJ, ..., Adey AC (2018) Highly scalable generation of DNA methylation profiles in
single cells. Nature Biotechnology. [IF=8.861, Cited=107, 29644997].
Shendure J, Ji H (2008) Next-generation DNA sequencing. Nature Biotechnology. [IF=8.861, Cited=1000, 18846087].
Wheway G, Schmidts M, Mans DA, ..., Johnson CA (2015) An siRNA-based functional genomics screen for the identification
of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology. [IF=3.908, Cited=144, 26167768].
Arts P, van der Raadt J, van Gestel SHC, ..., Albers CA (2017) Quantification of differential gene expression by
multiplexed targeted resequencing of cDNA. Nature Communications. [IF=3.268, Cited=11, 28474677].
Schwartz JJ, Roach DJ, Thomas JH, Shendure J (2014) Primate evolution of the recombination regulator PRDM9. Nature
Communications. [IF=3.268, Cited=47, 25001002].
Deriziotis P, O'Roak BJ, Graham SA, ..., Fisher SE (2014) De novo TBR1 mutations in sporadic autism disrupt protein
functions. Nature Communications. [IF=3.268, Cited=74, 25232744].
Pritchard CC, Morrissey C, Kumar A, ..., Nelson PS (2014) Complex MSH2 and MSH6 mutations in hypermutated microsatellite
unstable advanced prostate cancer. Nature Communications. [IF=3.268, Cited=145, 25255306].
O'Roak BJ, Stessman HA, Boyle EA, ..., Eichler EE (2014) Recurrent de novo mutations implicate novel genes underlying
simplex autism risk. Nature Communications. [IF=3.268, Cited=198, 25418537].
Smith RP, Taher L, Patwardhan RP, ..., Ahituv N (2013) Massively parallel decoding of mammalian regulatory sequences
supports a flexible organizational model. Nature Genetics. [IF=6.89, Cited=145, 23892608].
Kircher M, Witten DM, Jain P, ..., Shendure J (2014) A general framework for estimating the relative pathogenicity of
human genetic variants. Nature Genetics. [IF=6.89, Cited=1000, 24487276].
Coe BP, Witherspoon K, Rosenfeld JA, ..., Eichler EE (2014) Refining analyses of copy number variation identifies
specific genes associated with developmental delay. Nature Genetics. [IF=6.89, Cited=346, 25217958].
Amini S, Pushkarev D, Christiansen L, ..., Steemers FJ (2014) Haplotype-resolved whole-genome sequencing by contiguity-
preserving transposition and combinatorial indexing. Nature Genetics. [IF=6.89, Cited=109, 25326703].
Weren RDA, Ligtenberg MJL, Kets CM, ..., Hoogerbrugge N (2015) A germline homozygous mutation in the base-excision
repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nature Genetics. [IF=6.89, Cited=206, 25938944].
Santos-Cortez RLP, Chiong CM, Reyes-Quintos MRT, ..., Leal SM (2015) Rare A2ML1 variants confer susceptibility to otitis
media. Nature Genetics. [IF=6.89, Cited=28, 26121085].
Kircher M, Shendure J (2015) Running spell-check to identify regulatory variants. Nature Genetics. [IF=6.89, Cited=3, 26220134].
Bickhart DM, Rosen BD, Koren S, ..., Smith TPL (2017) Single-molecule sequencing and chromatin conformation capture
enable de novo reference assembly of the domestic goat genome. Nature Genetics. [IF=6.89, Cited=316, 28263316].
Kumar A, Coleman I, Morrissey C, ..., Nelson PS (2016) Substantial interindividual and limited intraindividual genomic
diversity among tumors from men with metastatic prostate cancer. Nature Medicine. [IF=11.877, Cited=433, 26928463].
Hause RJ, Pritchard CC, Shendure J, Salipante SJ (2016) Classification and characterization of microsatellite
instability across 18 cancer types. Nature Medicine. [IF=11.877, Cited=496, 27694933].
Ma W, Ay F, Lee C, ..., Duan Z (2014) Fine-scale chromatin interaction maps reveal the cis-regulatory landscape of human
lincRNA genes. Nature Methods. [IF=10.009, Cited=128, 25437436].
Kitzman JO, Starita LM, Lo RS, ..., Shendure J (2015) Massively parallel single-amino-acid mutagenesis. Nature Methods.
[IF=10.009, Cited=88, 25559584].
Ramani V, Deng X, Qiu R, ..., Shendure J (2017) Massively multiplex single-cell Hi-C. Nature Methods. [IF=10.009,
Cited=276, 28135255].
Hill AJ, McFaline-Figueroa JL, Starita LM, ..., Trapnell C (2018) On the design of CRISPR-based single-cell molecular
screens. Nature Methods. [IF=10.009, Cited=95, 29457792].
Nuttle X, Itsara A, Shendure J, Eichler EE (2014) Resolving genomic disorder-associated breakpoints within segmental DNA
duplications using massively parallel sequencing. None. [IF=None, Cited=12, 24874815].
Ramani V, Cusanovich DA, Hause RJ, ..., Duan Z (2016) Mapping 3D genome architecture through in situ DNase Hi-C. None.
[IF=None, Cited=67, 27685100].
Gasperini M, Starita L, Shendure J (2016) The power of multiplexed functional analysis of genetic variants. None.
[IF=None, Cited=70, 27583640].
Snyder MW, Adey A, Kitzman JO, Shendure J (2015) Haplotype-resolved genome sequencing: experimental methods and
applications. Nature Reviews Genetics. [IF=8.261, Cited=107, 25948246].
Bonora G, Deng X, Fang H, ..., Disteche CM (2018) Orientation-dependent Dxz4 contacts shape the 3D structure of the
inactive X chromosome. Nature Communications. [IF=3.268, Cited=33, 29654302].
Bertero A, Fields PA, Ramani V, ..., Murry CE (2019) Dynamics of genome reorganization during human cardiogenesis reveal
an RBM20-dependent splicing factory. Nature Communications. [IF=3.268, Cited=68, 30948719].
Farhat MR, Freschi L, Calderon R, ..., Murray M (2019) GWAS for quantitative resistance phenotypes in Mycobacterium
tuberculosis reveals resistance genes and regulatory regions. Nature Communications. [IF=3.268, Cited=75, 31086182].
Klein JC, Keith A, Rice SJ, ..., Shendure J (2019) Functional testing of thousands of osteoarthritis-associated variants
for regulatory activity. Nature Communications. [IF=3.268, Cited=48, 31164647].
Kircher M, Xiong C, Martin B, ..., Ahituv N (2019) Saturation mutagenesis of twenty disease-associated regulatory
elements at single base-pair resolution. Nature Communications. [IF=3.268, Cited=92, 31395865].
Fang H, Bonora G, Lewandowski JP, ..., Disteche CM (2020) Trans- and cis-acting effects of Firre on epigenetic features
of the inactive X chromosome. Nature Communications. [IF=3.268, Cited=27, 33247132].
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sequence replacement. BMC Biology. [IF=1.461, Cited=7, 31739790].
Yang F, Deng X, Ma W, ..., Disteche CM (2015) The lncRNA Firre anchors the inactive X chromosome to the nucleolus by
binding CTCF and maintains H3K27me3 methylation. None. [IF=None, Cited=145, 25887447].
Deng X, Ma W, Ramani V, ..., Disteche CM (2015) Bipartite structure of the inactive mouse X chromosome. None. [IF=None,
Cited=141, 26248554].
Ramani V, Shendure J (2016) Smash and DASH with Cas9. None. [IF=None, Cited=3, 26944856].
Klein JC, Keith A, Agarwal V, ..., Shendure J (2018) Functional characterization of enhancer evolution in the primate
lineage. None. [IF=None, Cited=30, 30045748].
Esposito D, Weile J, Shendure J, ..., Rubin AF (2019) MaveDB: an open-source platform to distribute and interpret data
from multiplexed assays of variant effect. None. [IF=None, Cited=78, 31679514].
Bonora G, Ramani V, Singh R, ..., Disteche CM (2021) Single-cell landscape of nuclear configuration and gene expression
during stem cell differentiation and X inactivation. None. [IF=None, Cited=8, 34579774].
Shendure J (2014) Life after genetics. Genome Medicine. [IF=2.422, Cited=3, 25473425].
Kumar A, Ryan A, Kitzman JO, ..., Rabinowitz M (2015) Whole genome prediction for preimplantation genetic diagnosis.
Genome Medicine. [IF=2.422, Cited=17, 26019723].
Gelman H, Dines JN, Berg J, ..., Starita LM (2019) Recommendations for the collection and use of multiplexed functional
data for clinical variant interpretation. Genome Medicine. [IF=2.422, Cited=34, 31862013].
Rentzsch P, Schubach M, Shendure J, Kircher M (2021) CADD-Splice-improving genome-wide variant effect prediction using
deep learning-derived splice scores. Genome Medicine. [IF=2.422, Cited=255, 33618777].
Carvill GL, Weckhuysen S, McMahon JM, ..., Mefford HC (2014) GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Neurology. [IF=2.47, Cited=145, 24623842].
Carroll PA, Freie BW, Cheng PF, ..., Eisenman RN (2021) The glucose-sensing transcription factor MLX balances metabolism
and stress to suppress apoptosis and maintain spermatogenesis. PLoS Biology. [IF=2.285, Cited=5, 34669700].
Kim HJ, Yardımcı GG, Bonora G, ..., Noble WS (2020) Capturing cell type-specific chromatin compartment patterns by
applying topic modeling to single-cell Hi-C data. PLoS Computational Biology. [IF=1.278, Cited=42, 32946435].
Birnbaum RY, Patwardhan RP, Kim MJ, ..., Ahituv N (2014) Systematic dissection of coding exons at single nucleotide
resolution supports an additional role in cell-specific transcriptional regulation. PLoS Genetics. [IF=1.236, Cited=26, 25340400].
Berletch JB, Ma W, Yang F, ..., Deng X (2015) Escape from X inactivation varies in mouse tissues. PLoS Genetics.
[IF=1.236, Cited=161, 25785854].
Roach DJ, Burton JN, Lee C, ..., Salipante SJ (2015) A Year of Infection in the Intensive Care Unit: Prospective Whole
Genome Sequencing of Bacterial Clinical Isolates Reveals Cryptic Transmissions and Novel Microbiota. PLoS Genetics.
[IF=1.236, Cited=112, 26230489].
Underhill HR, Kitzman JO, Hellwig S, ..., Shendure J (2016) Fragment Length of Circulating Tumor DNA. PLoS Genetics.
[IF=1.236, Cited=322, 27428049].
Harrison JJ, Almblad H, Irie Y, ..., Parsek MR (2020) Elevated exopolysaccharide levels in Pseudomonas aeruginosa
flagellar mutants have implications for biofilm growth and chronic infections. PLoS Genetics. [IF=1.236, Cited=30, 32530919].
Campbell CD, Mohajeri K, Malig M, ..., Eichler EE (2014) Whole-genome sequencing of individuals from a founder
population identifies candidate genes for asthma. PLoS ONE. [IF=1.253, Cited=21, 25116239].
Kumar A, Dougherty M, Findlay GM, ..., Horwitz MS (2014) Genome sequencing of idiopathic pulmonary fibrosis in
conjunction with a medical school human anatomy course. PLoS ONE. [IF=1.253, Cited=5, 25192356].
Stone BC, Kas A, Billman ZP, ..., Murphy SC (2016) Complex Minigene Library Vaccination for Discovery of Pre-
Erythrocytic Plasmodium T Cell Antigens. PLoS ONE. [IF=1.253, Cited=5, 27070430].
Brennan G, Kitzman JO, Rothenburg S, ..., Geballe AP (2014) Adaptive gene amplification as an intermediate step in the
expansion of virus host range. PLoS Pathogens. [IF=1.423, Cited=39, 24626510].
Paredes MI, Perofsky AC, Frisbie L, ..., Bedford T (2024) Local-scale phylodynamics reveal differential community impact
of SARS-CoV-2 in a metropolitan US county. PLoS Pathogens. [IF=1.423, Cited=1, 38530853].
Neveling K, Mensenkamp AR, Derks R, ..., Hoischen A (2016) BRCA Testing by Single-Molecule Molecular Inversion Probes.
Clinical Chemistry. [IF=1.432, Cited=29, 27974384].
Lotfollahi M, Klimovskaia Susmelj A, De Donno C, ..., Theis FJ (2023) Predicting cellular responses to complex
perturbations in high-throughput screens. Molecular Systems Biology. [IF=2.015, Cited=27, 37154091].
Burton JN, Liachko I, Dunham MJ, Shendure J (2014) Species-level deconvolution of metagenome assemblies with Hi-C-based
contact probability maps. G3: Genes, Genomes, Genetics. [IF=0.778, Cited=97, 24855317].
Starita LM, Young DL, Islam M, ..., Fields S (2015) Massively Parallel Functional Analysis of BRCA1 RING Domain
Variants. Genetics. [IF=1.102, Cited=165, 25823446].
Shendure J, Fields S (2016) Massively Parallel Genetics. Genetics. [IF=1.102, Cited=11, 27270695].
Laurie MT, Bertout JA, Taylor SD, ..., Bielas JH (2013) Simultaneous digital quantification and fluorescence-based size
characterization of massively parallel sequencing libraries. BioTechniques. [IF=0.626, Cited=17, 23931593].
Bennett JC, Emanuels A, Heimonen J, ..., Chu HY (2023) Streptococcus pneumoniae nasal carriage patterns with and
without common respiratory virus detections in households in Seattle, WA, USA before and during the COVID-19 pandemic.
Frontiers in Pediatrics. [IF=1.087, Cited=3, 37484765].
Kim S, Liachko I, Brickner DG, ..., Dunham MJ (2017) The dynamic three-dimensional organization of the diploid yeast
genome. eLife. [IF=1.743, Cited=30, 28537556].
Kim S, Dunham MJ, Shendure J (2019) A combination of transcription factors mediates inducible interchromosomal contacts.
eLife. [IF=1.743, Cited=7, 31081754].

Publication with MISSING institution:

Hannibal MC, Buckingham KJ, Ng SB, ..., Bamshad MJ (2011) Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki
syndrome. American Journal of Medical Genetics, Part A. [IF=1.165, Cited=114, 21671394].
Tabor HK, Stock J, Brazg T, ..., Bamshad MJ (2012) Informed consent for whole genome sequencing: a qualitative analysis
of participant expectations and perceptions of risks, benefits, and harms. American Journal of Medical Genetics, Part A.
[IF=1.165, Cited=85, 22532433].
Bamshad MJ, Shendure J, Shendure JA, ..., Nickerson DA (2012) The Centers for Mendelian Genomics: a new large-scale
initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics, Part A.
[IF=1.165, Cited=82, 22628075].
Peirce JL, Derr R, Shendure J, ..., Silver LM (1998) A major influence of sex-specific loci on alcohol preference in
C57Bl/6 and DBA/2 inbred mice. Mammalian Genome. [IF=0.583, Cited=36, 9880657].
Ansar M, Santos-Cortez RLP, Saqib MAN, ..., Leal SM (2015) Mutation of ATF6 causes autosomal recessive achromatopsia.
Human Genetics. [IF=1.653, Cited=53, 26063662].
Higgins AW, Alkuraya FS, Bosco AF, ..., Morton CC (2008) Characterization of apparently balanced chromosomal
rearrangements from the developmental genome anatomy project. American Journal of Human Genetics. [IF=2.607, Cited=68, 18319076].
Brkanac Z, Spencer D, Shendure J, ..., Raskind WH (2009) IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
American Journal of Human Genetics. [IF=2.607, Cited=28, 19409521].
Bernier FP, Caluseriu O, Ng S, ..., Parboosingh JS (2012) Haploinsufficiency of SF3B4, a component of the pre-mRNA
spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics. [IF=2.607, Cited=106, 22541558].
Horani A, Druley TE, Zariwala MA, ..., Ferkol TW (2012) Whole-exome capture and sequencing identifies HEATR2 mutation as
a cause of primary ciliary dyskinesia. American Journal of Human Genetics. [IF=2.607, Cited=109, 23040496].
Knowles MR, Leigh MW, Ostrowski LE, ..., Zariwala MA (2012) Exome sequencing identifies mutations in CCDC114 as a cause
of primary ciliary dyskinesia. American Journal of Human Genetics. [IF=2.607, Cited=84, 23261302].
Below JE, Earl DL, Shively KM, ..., Bamshad MJ (2012) Whole-genome analysis reveals that mutations in inositol
polyphosphate phosphatase-like 1 cause opsismodysplasia. American Journal of Human Genetics. [IF=2.607, Cited=34, 23273567].
McMillin MJ, Below JE, Shively KM, ..., Bamshad MJ (2012) Mutations in ECEL1 cause distal arthrogryposis type 5D.
American Journal of Human Genetics. [IF=2.607, Cited=48, 23261301].
Marneros AG, Beck AE, Turner EH, ..., Bamshad MJ (2013) Mutations in KCTD1 cause scalp-ear-nipple syndrome. American
Journal of Human Genetics. [IF=2.607, Cited=46, 23541344].
Ng BG, Buckingham KJ, Raymond K, ..., Freeze HH (2013) Mosaicism of the UDP-galactose transporter SLC35A2 causes a
congenital disorder of glycosylation. American Journal of Human Genetics. [IF=2.607, Cited=75, 23561849].
Guo Dc, Regalado E, Casteel DE, ..., Milewicz DM (2013) Recurrent gain-of-function mutation in PRKG1 causes thoracic
aortic aneurysms and acute aortic dissections. American Journal of Human Genetics. [IF=2.607, Cited=122, 23910461].
Knowles MR, Ostrowski LE, Loges NT, ..., Zariwala MA (2013) Mutations in SPAG1 cause primary ciliary dyskinesia
associated with defective outer and inner dynein arms. American Journal of Human Genetics. [IF=2.607, Cited=84, 24055112].
Shendure J (2024) 2023 ASHG Scientific Achievement Award: Molly Przeworski. American Journal of Human Genetics.
[IF=2.607, Cited=0, 38458163].
Moskowitz IPG, Kim JB, Moore ML, ..., Seidman CE (2007) A molecular pathway including Id2, Tbx5, and Nkx2-5 required for
cardiac conduction system development. Cell. [IF=8.479, Cited=194, 17604724].
Elde NC, Child SJ, Eickbush MT, ..., Malik HS (2012) Poxviruses deploy genomic accordions to adapt rapidly against host
antiviral defenses. Cell. [IF=8.479, Cited=203, 22901812].
Gasperini M, Hill AJ, McFaline-Figueroa JL, ..., Shendure J (2019) A Genome-wide Framework for Mapping Gene Regulation
via Cellular Genetic Screens. Cell. [IF=8.479, Cited=42, 30849375].
Stone B, Rieck M, Rawlings CA, ..., Buckner JH (2012) Identification of novel HLA class II target epitopes for
generation of donor-specific T regulatory cells. Clinical Immunology. [IF=1.324, Cited=1, 23063892].
Deng X, Berletch JB, Ma W, ..., Disteche CM (2013) Mammalian X upregulation is associated with enhanced transcription
initiation, RNA half-life, and MOF-mediated H4K16 acetylation. Developmental Cell. [IF=2.256, Cited=64, 23523075].
Loeb GB, Khan AA, Canner D, ..., Rudensky AY (2012) Transcriptome-wide miR-155 binding map reveals widespread
noncanonical microRNA targeting. Molecular Cell. [IF=2.773, Cited=236, 23142080].
Duan Z, Andronescu M, Schutz K, ..., Anthony Blau C (2012) A genome-wide 3C-method for characterizing the three-
dimensional architectures of genomes. Methods. [IF=0.927, Cited=16, 22776363].
Mitra RD, Shendure J, Olejnik J, ..., Church GM (2003) Fluorescent in situ sequencing on polymerase colonies. Analytical
Biochemistry. [IF=0.706, Cited=86, 12895469].
Liang X, Munshi S, Shendure J, ..., Shiver JW (1999) Epitope insertion into variable loops of HIV-1 gp120 as a potential
means to improve immunogenicity of viral envelope protein. Vaccine. [IF=1.264, Cited=68, 10438057].
Aach J, Bulyk ML, Church GM, ..., Shendure J (2001) Computational comparison of two draft sequences of the human genome.
Nature. [IF=11.591, Cited=29, 11237010].
Qiu C, Shendure J (2021) A continuous model of early mammalian development. Nature. [IF=11.591, Cited=0, 33931776].
Ng SB, Turner EH, Robertson PD, ..., Shendure J (2009) Targeted capture and massively parallel sequencing of 12 human
exomes. Nature. [IF=11.591, Cited=1000, 19684571].
Duan Z, Andronescu M, Schutz K, ..., Noble WS (2010) A three-dimensional model of the yeast genome. Nature. [IF=11.591,
Cited=607, 20436457].
O'Roak BJ, Vives L, Girirajan S, ..., Eichler EE (2012) Sporadic autism exomes reveal a highly interconnected protein
network of de novo mutations. Nature. [IF=11.591, Cited=1000, 22495309].
Fu W, O'Connor TD, Jun G, ..., Akey JM (2012) Analysis of 6,515 exomes reveals the recent origin of most human protein-
coding variants. Nature. [IF=11.591, Cited=605, 23201682].
Adey A, Burton JN, Kitzman JO, ..., Shendure J (2013) The haplotype-resolved genome and epigenome of the aneuploid HeLa
cancer cell line. Nature. [IF=11.591, Cited=205, 23925245].
Dekker J, Belmont AS, Guttman M, ..., Zhong S (2017) Corrigendum: The 4D nucleome project. Nature. [IF=11.591, Cited=1, 29168505].
Patwardhan RP, Lee C, Litvin O, ..., Shendure J (2009) High-resolution analysis of DNA regulatory elements by synthetic
saturation mutagenesis. Nature Biotechnology. [IF=8.861, Cited=207, 19915551].
Kitzman JO, Mackenzie AP, Adey A, ..., Shendure J (2010) Haplotype-resolved genome sequencing of a Gujarati Indian
individual. Nature Biotechnology. [IF=8.861, Cited=158, 21170042].
Patwardhan RP, Hiatt JB, Witten DM, ..., Shendure J (2012) Massively parallel functional dissection of mammalian
enhancers in vivo. Nature Biotechnology. [IF=8.861, Cited=320, 22371081].
Burton JN, Adey A, Patwardhan RP, ..., Shendure J (2013) Chromosome-scale scaffolding of de novo genome assemblies based
on chromatin interactions. Nature Biotechnology. [IF=8.861, Cited=700, 24185095].
Church G, Shendure J, Porreca G (2006) Sequencing thoroughbreds. Nature Biotechnology. [IF=8.861, Cited=2, 16465149].
Badarinarayana V, Estep PW, Shendure J, ..., Church GM (2001) Selection analyses of insertional mutants using subgenic-
resolution arrays. Nature Biotechnology. [IF=8.861, Cited=96, 11689852].
Rivière JB, van Bon BWM, Hoischen A, ..., Dobyns WB (2012) De novo mutations in the actin genes ACTB and ACTG1 cause
Baraitser-Winter syndrome. Nature Genetics. [IF=6.89, Cited=160, 22366783].
Rivière JB, Mirzaa GM, O'Roak BJ, ..., Dobyns WB (2012) De novo germline and postzygotic mutations in AKT3, PIK3R2 and
PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics. [IF=6.89, Cited=406, 22729224].
Boileau C, Guo DC, Hanna N, ..., Milewicz DM (2012) TGFB2 mutations cause familial thoracic aortic aneurysms and
dissections associated with mild systemic features of Marfan syndrome. Nature Genetics. [IF=6.89, Cited=219, 22772371].
Peifer M, Fernández-Cuesta L, Sos ML, ..., Thomas RK (2012) Integrative genome analyses identify key somatic driver
mutations of small-cell lung cancer. Nature Genetics. [IF=6.89, Cited=810, 22941188].
Campbell CD, Chong JX, Malig M, ..., Eichler EE (2012) Estimating the human mutation rate using autozygosity in a
founder population. Nature Genetics. [IF=6.89, Cited=131, 23001126].
Carvill GL, Heavin SB, Yendle SC, ..., Mefford HC (2013) Targeted resequencing in epileptic encephalopathies identifies
de novo mutations in CHD2 and SYNGAP1. Nature Genetics. [IF=6.89, Cited=376, 23708187].
Buchovecky CM, Turley SD, Brown HM, ..., Justice MJ (2013) A suppressor screen in Mecp2 mutant mice implicates
cholesterol metabolism in Rett syndrome. Nature Genetics. [IF=6.89, Cited=128, 23892605].
Carvill GL, Regan BM, Yendle SC, ..., Mefford HC (2013) GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
Nature Genetics. [IF=6.89, Cited=201, 23933818].
Ng SB, Buckingham KJ, Lee C, ..., Bamshad MJ (2009) Exome sequencing identifies the cause of a mendelian disorder.
Nature Genetics. [IF=6.89, Cited=1000, 19915526].
Ng SB, Bigham AW, Buckingham KJ, ..., Shendure J (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki
syndrome. Nature Genetics. [IF=6.89, Cited=800, 20711175].
O'Roak BJ, Deriziotis P, Lee C, ..., Eichler EE (2011) Exome sequencing in sporadic autism spectrum disorders identifies
severe de novo mutations. Nature Genetics. [IF=6.89, Cited=737, 21572417].
Deng X, Hiatt JB, Nguyen DK, ..., Disteche CM (2011) Evidence for compensatory upregulation of expressed X-linked genes
in mammals, Caenorhabditis elegans and Drosophila melanogaster. Nature Genetics. [IF=6.89, Cited=186, 22019781].
Melo JA, Shendure J, Pociask K, Silver LM (1996) Identification of sex-specific quantitative trait loci controlling
alcohol preference in C57BL/ 6 mice. Nature Genetics. [IF=6.89, Cited=120, 8640219].
Zhang K, Zhu J, Shendure J, ..., Church GM (2006) Long-range polony haplotyping of individual human chromosome
molecules. Nature Genetics. [IF=6.89, Cited=48, 16493423].
Weber G, Shendure J, Tanenbaum DM, ..., Meyerson M (2002) Identification of foreign gene sequences by transcript
filtering against the human genome. Nature Genetics. [IF=6.89, Cited=47, 11788827].
Hause RJ, Pritchard CC, Shendure J, Salipante SJ (2018) Corrigendum: Classification and characterization of
microsatellite instability across 18 cancer types. Nature Medicine. [IF=11.877, Cited=8, 29634692].
Hause RJ, Pritchard CC, Shendure J, Salipante SJ (2017) Corrigendum: Classification and characterization of
microsatellite instability across 18 cancer types. Nature Medicine. [IF=11.877, Cited=3, 28985213].
Hiatt JB, Patwardhan RP, Turner EH, ..., Shendure J (2010) Parallel, tag-directed assembly of locally derived short
sequence reads. Nature Methods. [IF=10.009, Cited=101, 20081835].
Mamanova L, Coffey AJ, Scott CE, ..., Turner DJ (2010) Target-enrichment strategies for next-generation sequencing.
Nature Methods. [IF=10.009, Cited=610, 20111037].
Schwartz JJ, Lee C, Shendure J (2012) Accurate gene synthesis with tag-directed retrieval of sequence-verified DNA
molecules. Nature Methods. [IF=10.009, Cited=37, 22886093].
Nuttle X, Huddleston J, O'Roak BJ, ..., Eichler EE (2013) Rapid and accurate large-scale genotyping of duplicated genes
and discovery of interlocus gene conversions. Nature Methods. [IF=10.009, Cited=24, 23892896].
Turner EH, Lee C, Ng SB, ..., Shendure J (2009) Massively parallel exon capture and library-free resequencing across 16
genomes. Nature Methods. [IF=10.009, Cited=133, 19349981].
Cooper GM, Goode DL, Ng SB, ..., Nickerson DA (2010) Single-nucleotide evolutionary constraint scores highlight disease-
causing mutations. Nature Methods. [IF=10.009, Cited=127, 20354513].
Shendure J (2008) The beginning of the end for microarrays? Nature Methods. [IF=10.009, Cited=182, 18587314].
Porreca GJ, Zhang K, Li JB, ..., Shendure J (2007) Multiplex amplification of large sets of human exons. Nature Methods.
[IF=10.009, Cited=258, 17934468].
Turner DJ, Shendure J, Porreca G, ..., Hurles ME (2006) Assaying chromosomal inversions by single-molecule haplotyping.
Nature Methods. [IF=10.009, Cited=23, 16721377].
Wang Q, Gu L, Adey A, ..., Weichenhan D (2013) Tagmentation-based whole-genome bisulfite sequencing. None. [IF=None,
Cited=102, 24071908].
Bamshad MJ, Ng SB, Bigham AW, ..., Shendure J (2011) Exome sequencing as a tool for Mendelian disease gene discovery.
Nature Reviews Genetics. [IF=8.261, Cited=987, 21946919].
Cooper GM, Shendure J (2011) Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.
Nature Reviews Genetics. [IF=8.261, Cited=342, 21850043].
Snyder MW, Gammill HS, Shendure J (2015) Copy-Number Variation and False Positive Results of Prenatal Screening. New
England Journal of Medicine. [IF=17.194, Cited=7, 26699182].
Jamuar SS, Lam ATN, Kircher M, ..., Walsh CA (2014) Somatic mutations in cerebral cortical malformations. New England
Journal of Medicine. [IF=17.194, Cited=175, 25140959].
Snyder MW, Simmons LE, Kitzman JO, ..., Gammill HS (2015) Copy-number variation and false positive prenatal aneuploidy
screening results. New England Journal of Medicine. [IF=17.194, Cited=66, 25830323].
Allix-Béguec C, Arandjelovic I, Bi L, ..., Zhu B (2018) Prediction of Susceptibility to First-Line Tuberculosis Drugs by
DNA Sequencing. New England Journal of Medicine. [IF=17.194, Cited=224, 30280646].
Rios J, Stein E, Shendure J, ..., Cohen JC (2010) Identification by whole-genome resequencing of gene defect responsible
for severe hypercholesterolemia. Human Molecular Genetics. [IF=1.158, Cited=106, 20719861].
Ng SB, Nickerson DA, Bamshad MJ, Shendure J (2010) Massively parallel sequencing and rare disease. Human Molecular
Genetics. [IF=1.158, Cited=115, 20846941].
Losfeld ME, Ng BG, Kircher M, ..., Freeze HH (2013) A new congenital disorder of glycosylation caused by a mutation in
SSR4, the signal sequence receptor 4 protein of the TRAP complex. Human Molecular Genetics. [IF=1.158, Cited=28, 24218363].
Attar S, Browning VE, Liu Y, ..., Beliveau BJ (2023) Programmable peroxidase-assisted signal amplification enables
flexible detection of nucleic acid targets in cellular and histopathological specimens. None. [IF=None, Cited=0, 36778496].
Chardon FM, McDiarmid TA, Page NF, ..., Shendure J (2024) Multiplex, single-cell CRISPRa screening for cell type
specific regulatory elements. None. [IF=None, Cited=0, 37034704].
Li X, Chen W, Martin BK, ..., Shendure J (2023) Chromatin context-dependent regulation and epigenetic manipulation of
prime editing. None. [IF=None, Cited=1, 37090511].
Liao H, Kottapalli S, Huang Y, ..., Srivatsan S (2024) Optics-free reconstruction of 2D images via DNA barcode proximity
graphs. None. [IF=None, Cited=0, 39149271].
Yang F, Babak T, Shendure J, Disteche CM (2010) Global survey of escape from X inactivation by RNA-sequencing in mouse.
Genome Research. [IF=1.745, Cited=241, 20363980].
Muthappan V, Lee AY, Lamprecht TL, ..., Van Gelder RN (2011) Biome representational in silico karyotyping. Genome
Research. [IF=1.745, Cited=15, 21324882].
George RD, McVicker G, Diederich R, ..., Thomas JH (2011) Trans genomic capture and sequencing of primate exomes reveals
new targets of positive selection. Genome Research. [IF=1.745, Cited=66, 21795384].
Ventura M, Catacchio CR, Alkan C, ..., Eichler EE (2011) Gorilla genome structural variation reveals evolutionary
parallelisms with chimpanzee. Genome Research. [IF=1.745, Cited=50, 21685127].
Adey A, Shendure J (2012) Ultra-low-input, tagmentation-based whole-genome bisulfite sequencing. Genome Research.
[IF=1.745, Cited=71, 22466172].
Hiatt JB, Pritchard CC, Salipante SJ, ..., Shendure J (2013) Single molecule molecular inversion probes for targeted,
high-accuracy detection of low-frequency variation. Genome Research. [IF=1.745, Cited=216, 23382536].
Thompson O, Edgley M, Strasbourger P, ..., Waterston RH (2013) The million mutation project: a new approach to genetics
in Caenorhabditis elegans. Genome Research. [IF=1.745, Cited=268, 23800452].
Inoue F, Kircher M, Martin B, ..., Shendure J (2018) Corrigendum: A systematic comparison reveals substantial
differences in chromosomal versus episomal encoding of enhancer activity. Genome Research. [IF=1.745, Cited=1, 29717003].
Zhu Z, Shendure J, Church GM (2005) Discovering functional transcription-factor combinations in the human cell cycle.
Genome Research. [IF=1.745, Cited=51, 15930495].
Stitziel NO, Peloso GM, Abifadel M, ..., Kathiresan S (2015) Exome sequencing in suspected monogenic dyslipidemias.
None. [IF=None, Cited=26, 25632026].
Kuang SQ, Medina-Martinez O, Guo DC, ..., Milewicz DM (2016) FOXE3 mutations predispose to thoracic aortic aneurysms and
dissections. Journal of Clinical Investigation. [IF=2.423, Cited=54, 26854927].
Cosart T, Beja-Pereira A, Chen S, ..., Luikart G (2011) Exome-wide DNA capture and next generation sequencing in
domestic and wild species. BMC Genomics. [IF=1.189, Cited=48, 21729323].
Bradnam KR, Fass JN, Alexandrov A, ..., Korf IF (2013) Assemblathon 2: evaluating de novo methods of genome assembly in
three vertebrate species. GigaScience. [IF=2.294, Cited=327, 23870653].
Adey A, Morrison HG, Asan N, ..., Shendure J (2010) Rapid, low-input, low-bias construction of shotgun fragment
libraries by high-density in vitro transposition. None. [IF=None, Cited=317, 21143862].
Fairfield H, Gilbert GJ, Barter M, ..., Reinholdt LG (2011) Mutation discovery in mice by whole exome sequencing. None.
[IF=None, Cited=78, 21917142].
Vasta V, Ng SB, Turner EH, ..., Hahn SH (2009) Next generation sequence analysis for mitochondrial disorders. Genome
Medicine. [IF=2.422, Cited=56, 19852779].
Kumar A, Shendure J, Nelson PS (2011) Genome interrupted: sequencing of prostate cancer reveals the importance of
chromosomal rearrangements. Genome Medicine. [IF=2.422, Cited=8, 21542879].
Kumar A, Boyle EA, Tokita M, ..., Shendure J (2014) Deep sequencing of multiple regions of glial tumors reveals spatial
heterogeneity for mutations in clinically relevant genes. None. [IF=None, Cited=45, 25608559].
Roach DJ, Burton JN, Lee C, ..., Salipante SJ (2017) Correction: A Year of Infection in the Intensive Care Unit:
Prospective Whole Genome Sequencing of Bacterial Clinical Isolates Reveals Cryptic Transmissions and Novel Microbiota.
PLoS Genetics. [IF=1.236, Cited=4, 28410416].
Thomas JH, Emerson RO, Shendure J (2009) Extraordinary molecular evolution in the PRDM9 fertility gene. PLoS ONE.
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Shendure, Jay

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