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Author Details

Aaron M Wenger
Stanford School of Medicine
2010
42
24
PMIDPaper TitleJournal TitlePublished Year
36050551DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer.Nat Biotechnol2023
37808736Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.bioRxiv2023
37612512The complete sequence of a human Y chromosome.Nature2023
37158973Comprehensive de novo mutation discovery with HiFi long-read sequencing.Genome Med2023
35305867Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.Genet Med2022
35366058Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing.Am J Med Genet A2022
36210382Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.Sci Rep2022
35132260Curated variation benchmarks for challenging medically relevant autosomal genes.Nat Biotechnol2022
33257779Long-read trio sequencing of individuals with unsolved intellectual disability.Eur J Hum Genet2021
33632895Haplotype-resolved diverse human genomes and integrated analysis of structural variation.Science2021
33772160Correction: Long-read trio sequencing of individuals with unsolved intellectual disability.Eur J Hum Genet2021
34774111Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.Clin Epigenetics2021
32559231A crowdsourced set of curated structural variants for the human genome.PLoS Comput Biol2020
31711268Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.Ann Hum Genet2020
32699374Author Correction: A robust benchmark for detection of germline large deletions and insertions.Nat Biotechnol2020
32434849AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.Sci Transl Med2020
32541955A robust benchmark for detection of germline large deletions and insertions.Nat Biotechnol2020
31201313High-coverage, long-read sequencing of Han Chinese trio reference samples.Sci Data2019
31664034Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.Nat Commun2019
29997393Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.Genet Med2019
31406327Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.Nat Biotechnol2019
28640241Long-read genome sequencing identifies causal structural variation in a Mendelian disease.Genet Med2018
30087448An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.Eur J Hum Genet2018
30137416Independent erosion of conserved transcription factor binding sites points to shared hindlimb, vision and external testes loss in different mammals.Nucleic Acids Res2018
29575631Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.Am J Med Genet A2018
27441994Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.Genet Med2017
28969385Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Brain2017
29092934Variant Review with the Integrative Genomics Viewer.Cancer Res2017
27738187Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A&gt;G p.(Tyr89Cys) variant in the <i>ERF</i> gene.J Med Genet2017
27776117M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.Nat Genet2016
24499934Automated discovery of tissue-targeting enhancers and transcription factors from binding motif and gene function data.PLoS Comput Biol2014
24963153Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape.Genome Res2014
23382538PRISM offers a comprehensive genomic approach to transcription factor function prediction.Genome Res2013
24218641Structure-aided prediction of mammalian transcription factor complexes in conserved non-coding elements.Philos Trans R Soc Lond B Biol Sci2013
23814184Computational methods to detect conserved non-genic elements in phylogenetically isolated genomes: application to zebrafish.Nucleic Acids Res2013
24009522The enhancer landscape during early neocortical development reveals patterns of dense regulation and co-option.PLoS Genet2013
22495965A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.Hum Mutat2012
22876195Human developmental enhancers conserved between deuterostomes and protostomes.PLoS Genet2012
22442009Coding exons function as tissue-specific enhancers of nearby genes.Genome Res2012
21455939Control of pelvic girdle development by genes of the Pbx family and Emx2.Dev Dyn2011
21390129Human-specific loss of regulatory DNA and the evolution of human-specific traits.Nature2011
20436461GREAT improves functional interpretation of cis-regulatory regions.Nat Biotechnol2010
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Collaborators

Jonathan A Bernstein
Stanford University
Co-authored papers 8
Justin M Zook
National Institute of Standards and Technology
Co-authored papers 7
Nathan D Olson
National Institute of Standards and Technology
Co-authored papers 6
Shoa L Clarke
Co-authored papers 6
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Chongqing Aier Eye Hospital
Co-authored papers 5
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Google LLC
Co-authored papers 5
Fritz J Sedlazeck
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Co-authored papers 5
Adam M Phillippy
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
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Stanford University
Co-authored papers 4
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National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
Joyce Lee
Co-authored papers 4
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Johns Hopkins University
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Center for Digital Medicine, Heinrich Heine University Dusseldorf
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National Human Genome Research Institute, National Institutes of Health
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Feil Family Brain and Mind Research Institute.
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University of Southern California
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Radboud University Medical Center
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David Geffen School of Medicine, university of california los angeles
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Roche Sequencing Solutions Inc.
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Noah Spies
Stanford University
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Stephen T Sherry
National Center for Biotechnology Information, National Institutes of Health
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Nadav Ahituv
University of California san francisco
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Weichen Zhou
Chengdu First People's Hospital
Co-authored papers 3
Arkarachai Fungtammasan
DNAnexus Inc.
Co-authored papers 3
Ryan E Mills
University of Michigan Medical School ann arbor
Co-authored papers 3
Evan E Eichler
University of Washington
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Alexandre Rouette
Charles-Bruneau Cancer Center, Centre Hospitalier Universitaire (CHU) Sainte-Justine
Co-authored papers 2
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 2
Ken Chen
University of Texas MD Anderson Cancer Center
Co-authored papers 2
Camir Ricketts
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