Year |
Citation |
Score |
2023 |
Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Cheng YH, Ranchalis J, Mao Y, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, et al. Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition. Biorxiv : the Preprint Server For Biology. PMID 37808736 DOI: 10.1101/2023.09.26.559521 |
0.383 |
|
2023 |
Cheung WA, Johnson AF, Rowell WJ, Farrow E, Hall R, Cohen ASA, Means JC, Zion TN, Portik DM, Saunders CT, Koseva B, Bi C, Truong TK, Schwendinger-Schreck C, Yoo B, ... ... Wenger AM, et al. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort. Nature Communications. 14: 3090. PMID 37248219 DOI: 10.1038/s41467-023-38782-1 |
0.373 |
|
2022 |
Wagner J, Olson ND, Harris L, Khan Z, Farek J, Mahmoud M, Stankovic A, Kovacevic V, Yoo B, Miller N, Rosenfeld JA, Ni B, Zarate S, Kirsche M, Aganezov S, ... ... Wenger AM, et al. Benchmarking challenging small variants with linked and long reads. Cell Genomics. 2. PMID 36452119 DOI: 10.1016/j.xgen.2022.100128 |
0.329 |
|
2022 |
Mehinovic E, Gray T, Campbell M, Ekholm J, Wenger A, Rowell W, Grudo A, Grimwood J, Korlach J, Gurnett C, Constantino JN, Turner TN. Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing. American Journal of Medical Genetics. Part A. PMID 35366058 DOI: 10.1002/ajmg.a.62743 |
0.317 |
|
2022 |
Wagner J, Olson ND, Harris L, McDaniel J, Cheng H, Fungtammasan A, Hwang YC, Gupta R, Wenger AM, Rowell WJ, Khan ZM, Farek J, Zhu Y, Pisupati A, Mahmoud M, et al. Curated variation benchmarks for challenging medically relevant autosomal genes. Nature Biotechnology. PMID 35132260 DOI: 10.1038/s41587-021-01158-1 |
0.336 |
|
2021 |
Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, ... ... Wenger AM, et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science (New York, N.Y.). PMID 33632895 DOI: 10.1126/science.abf7117 |
0.302 |
|
2020 |
Pauper M, Kucuk E, Wenger AM, Chakraborty S, Baybayan P, Kwint M, van der Sanden B, Nelen MR, Derks R, Brunner HG, Hoischen A, Vissers LELM, Gilissen C. Long-read trio sequencing of individuals with unsolved intellectual disability. European Journal of Human Genetics : Ejhg. PMID 33257779 DOI: 10.1038/s41431-020-00770-0 |
0.329 |
|
2020 |
Birgmeier J, Haeussler M, Deisseroth CA, Steinberg EH, Jagadeesh KA, Ratner AJ, Guturu H, Wenger AM, Diekhans ME, Stenson PD, Cooper DN, Ré C, Beggs AH, Bernstein JA, Bejerano G. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Science Translational Medicine. 12. PMID 32434849 DOI: 10.1126/Scitranslmed.Aau9113 |
0.645 |
|
2018 |
Berger MJ, Wenger AM, Guturu H, Bejerano G. Independent erosion of conserved transcription factor binding sites points to shared hindlimb, vision and external testes loss in different mammals. Nucleic Acids Research. PMID 30137416 DOI: 10.1093/Nar/Gky741 |
0.664 |
|
2018 |
Chen HI, Jagadeesh KA, Birgmeier J, Wenger AM, Guturu H, Schelley S, Bernstein JA, Bejerano G. An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease. European Journal of Human Genetics : Ejhg. PMID 30087448 DOI: 10.1038/S41431-018-0221-4 |
0.698 |
|
2018 |
Jagadeesh KA, Birgmeier J, Guturu H, Deisseroth CA, Wenger AM, Bernstein JA, Bejerano G. Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29997393 DOI: 10.1038/S41436-018-0072-Y |
0.658 |
|
2018 |
Birgmeier J, Esplin ED, Jagadeesh KA, Guturu H, Wenger AM, Chaib H, Buckingham JA, Bejerano G, Bernstein JA. Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. American Journal of Medical Genetics. Part A. 176: 1030-1036. PMID 29575631 DOI: 10.1002/Ajmg.A.38636 |
0.637 |
|
2017 |
Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, ... ... Wenger AM, et al. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain : a Journal of Neurology. 140: 2610-2622. PMID 28969385 DOI: 10.1093/Brain/Awx203 |
0.635 |
|
2017 |
Merker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, et al. Long-read genome sequencing identifies causal structural variation in a Mendelian disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28640241 DOI: 10.1038/Gim.2017.86 |
0.359 |
|
2016 |
Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, Bernstein JA, Bejerano G. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nature Genetics. PMID 27776117 DOI: 10.1038/Ng.3703 |
0.646 |
|
2016 |
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH, Bejerano G, et al. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of Medical Genetics. PMID 27738187 DOI: 10.1136/Jmedgenet-2016-104143 |
0.608 |
|
2016 |
Wenger AM, Guturu H, Bernstein JA, Bejerano G. Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27441994 DOI: 10.1038/Gim.2016.88 |
0.618 |
|
2014 |
Camp JG, Frank CL, Lickwar CR, Guturu H, Rube T, Wenger AM, Chen J, Bejerano G, Crawford GE, Rawls JF. Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape. Genome Research. 24: 1504-16. PMID 24963153 DOI: 10.1101/Gr.165845.113 |
0.659 |
|
2014 |
Tuteja G, Moreira KB, Chung T, Chen J, Wenger AM, Bejerano G. Automated discovery of tissue-targeting enhancers and transcription factors from binding motif and gene function data. Plos Computational Biology. 10: e1003449. PMID 24499934 DOI: 10.1371/Journal.Pcbi.1003449 |
0.702 |
|
2013 |
Guturu H, Doxey AC, Wenger AM, Bejerano G. Structure-aided prediction of mammalian transcription factor complexes in conserved non-coding elements. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 368: 20130029. PMID 24218641 DOI: 10.1098/Rstb.2013.0029 |
0.642 |
|
2013 |
Wenger AM, Clarke SL, Notwell JH, Chung T, Tuteja G, Guturu H, Schaar BT, Bejerano G. The enhancer landscape during early neocortical development reveals patterns of dense regulation and co-option. Plos Genetics. 9: e1003728. PMID 24009522 DOI: 10.1371/Journal.Pgen.1003728 |
0.702 |
|
2013 |
Hiller M, Agarwal S, Notwell JH, Parikh R, Guturu H, Wenger AM, Bejerano G. Computational methods to detect conserved non-genic elements in phylogenetically isolated genomes: application to zebrafish. Nucleic Acids Research. 41: e151. PMID 23814184 DOI: 10.1093/Nar/Gkt557 |
0.663 |
|
2013 |
Wenger AM, Clarke SL, Guturu H, Chen J, Schaar BT, McLean CY, Bejerano G. PRISM offers a comprehensive genomic approach to transcription factor function prediction. Genome Research. 23: 889-904. PMID 23382538 DOI: 10.1101/Gr.139071.112 |
0.683 |
|
2013 |
Tuteja G, Wenger A, Moreira KB, Chung T, Bejerano G. Genomic approaches for the identification of genes and enhancers regulating placenta development Placenta. 34: A69-A70. DOI: 10.1016/J.Placenta.2013.06.210 |
0.675 |
|
2012 |
Clarke SL, VanderMeer JE, Wenger AM, Schaar BT, Ahituv N, Bejerano G. Human developmental enhancers conserved between deuterostomes and protostomes. Plos Genetics. 8: e1002852. PMID 22876195 DOI: 10.1371/Journal.Pgen.1002852 |
0.695 |
|
2012 |
Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Human Mutation. 33: 1063-6. PMID 22495965 DOI: 10.1002/Humu.22097 |
0.686 |
|
2012 |
Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, et al. Coding exons function as tissue-specific enhancers of nearby genes. Genome Research. 22: 1059-68. PMID 22442009 DOI: 10.1101/Gr.133546.111 |
0.695 |
|
2011 |
Capellini TD, Handschuh K, Quintana L, Ferretti E, Di Giacomo G, Fantini S, Vaccari G, Clarke SL, Wenger AM, Bejerano G, Sharpe J, Zappavigna V, Selleri L. Control of pelvic girdle development by genes of the Pbx family and Emx2. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 240: 1173-89. PMID 21455939 DOI: 10.1002/Dvdy.22617 |
0.662 |
|
2011 |
McLean CY, Reno PL, Pollen AA, Bassan AI, Capellini TD, Guenther C, Indjeian VB, Lim X, Menke DB, Schaar BT, Wenger AM, Bejerano G, Kingsley DM. Human-specific loss of regulatory DNA and the evolution of human-specific traits. Nature. 471: 216-9. PMID 21390129 DOI: 10.1038/Nature09774 |
0.67 |
|
2010 |
McLean CY, Bristor D, Hiller M, Clarke SL, Schaar BT, Lowe CB, Wenger AM, Bejerano G. GREAT improves functional interpretation of cis-regulatory regions. Nature Biotechnology. 28: 495-501. PMID 20436461 DOI: 10.1038/Nbt.1630 |
0.702 |
|
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