Urban AE - Search Results

1

46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.

Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA. Esplin ED, et al. Among authors: urban ae. Am J Med Genet A. 2015 Jun;167(6):1360-4. doi: 10.1002/ajmg.a.37037. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25898814 Free PMC article. Review.

2

Detection and Quantification of Mosaic Genomic DNA Variation in Primary Somatic Tissues Using ddPCR: Analysis of Mosaic Transposable-Element Insertions, Copy-Number Variants, and Single-Nucleotide Variants.

Zhou B, Haney MS, Zhu X, Pattni R, Abyzov A, Urban AE. Zhou B, et al. Among authors: urban ae. Methods Mol Biol. 2018;1768:173-190. doi: 10.1007/978-1-4939-7778-9_11. Methods Mol Biol. 2018. PMID: 29717444

3

Local and global chromatin interactions are altered by large genomic deletions associated with human brain development.

Zhang X, Zhang Y, Zhu X, Purmann C, Haney MS, Ward T, Khechaduri A, Yao J, Weissman SM, Urban AE. Zhang X, et al. Among authors: urban ae. Nat Commun. 2018 Dec 17;9(1):5356. doi: 10.1038/s41467-018-07766-x. Nat Commun. 2018. PMID: 30559385 Free PMC article.

4

Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562.

Zhou B, Ho SS, Greer SU, Zhu X, Bell JM, Arthur JG, Spies N, Zhang X, Byeon S, Pattni R, Ben-Efraim N, Haney MS, Haraksingh RR, Song G, Ji HP, Perrin D, Wong WH, Abyzov A, Urban AE. Zhou B, et al. Among authors: urban ae. Genome Res. 2019 Mar;29(3):472-484. doi: 10.1101/gr.234948.118. Epub 2019 Feb 8. Genome Res. 2019. PMID: 30737237 Free PMC article.

5

Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.

Zhang S, Zhang X, Purmann C, Ma S, Shrestha A, Davis KN, Ho M, Huang Y, Pattni R, Wong WH, Bernstein JA, Hallmayer J, Urban AE. Zhang S, et al. Among authors: urban ae. Biol Psychiatry. 2021 Mar 1;89(5):497-509. doi: 10.1016/j.biopsych.2020.06.021. Epub 2020 Jul 1. Biol Psychiatry. 2021. PMID: 32919612 Free PMC article.

6

Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis.

Zhou B, Ho SS, Zhang X, Pattni R, Haraksingh RR, Urban AE. Zhou B, et al. Among authors: urban ae. J Med Genet. 2018 Nov;55(11):735-743. doi: 10.1136/jmedgenet-2018-105272. Epub 2018 Jul 30. J Med Genet. 2018. PMID: 30061371 Free PMC article.

7

Using iPSCs and genomics to catch CNVs in the act.

Urban AE, Purmann C. Urban AE, et al. Nat Genet. 2015 Feb;47(2):100-1. doi: 10.1038/ng.3204. Nat Genet. 2015. PMID: 25627897

8

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.

Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.

9

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).

Reierson G, Bernstein J, Froehlich-Santino W, Urban A, Purmann C, Berquist S, Jordan J, O'Hara R, Hallmayer J. Reierson G, et al. J Psychiatr Res. 2017 Aug;91:139-144. doi: 10.1016/j.jpsychires.2017.03.010. Epub 2017 Mar 16. J Psychiatr Res. 2017. PMID: 28346892 Free PMC article.

10

Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.

Guo MG, Reynolds DL, Ang CE, Liu Y, Zhao Y, Donohue LKH, Siprashvili Z, Yang X, Yoo Y, Mondal S, Hong A, Kain J, Meservey L, Fabo T, Elfaki I, Kellman LN, Abell NS, Pershad Y, Bayat V, Etminani P, Holodniy M, Geschwind DH, Montgomery SB, Duncan LE, Urban AE, Altman RB, Wernig M, Khavari PA. Guo MG, et al. Among authors: urban ae. Nat Genet. 2023 Nov;55(11):1876-1891. doi: 10.1038/s41588-023-01533-5. Epub 2023 Oct 19. Nat Genet. 2023. PMID: 37857935

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