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De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.
Circ Genom Precis Med. 2020 Aug;13(4):e002836. doi: 10.1161/CIRCGEN.119.002836. Epub 2020 Jun 30.
Circ Genom Precis Med. 2020.
PMID: 32812804
Free PMC article.
Robust identification of mosaic variants in congenital heart disease.
Manheimer KB, Richter F, Edelmann LJ, D'Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC, Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung WK, Seidman CE, Seidman JG, Gelb BD.
Manheimer KB, et al.
Hum Genet. 2018 Feb;137(2):183-193. doi: 10.1007/s00439-018-1871-6. Epub 2018 Feb 7.
Hum Genet. 2018.
PMID: 29417219
Free PMC article.
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Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, Gelb BD, Sharp AJ.
Manheimer KB, et al.
Hum Mutat. 2018 Jun;39(6):870-881. doi: 10.1002/humu.23419. Epub 2018 Mar 22.
Hum Mutat. 2018.
PMID: 29527824
Free PMC article.
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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
Hsieh A, Morton SU, Willcox JAL, Gorham JM, Tai AC, Qi H, DePalma S, McKean D, Griffin E, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Brueckner M, Lifton RP, Goldmuntz E, Gelb BD, Chung WK, Seidman CE, Seidman JG, Shen Y.
Hsieh A, et al. Among authors: manheimer kb.
Genome Med. 2020 Apr 29;12(1):42. doi: 10.1186/s13073-020-00738-1.
Genome Med. 2020.
PMID: 32349777
Free PMC article.
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Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD.
Richter F, et al. Among authors: manheimer kb.
Nat Genet. 2020 Aug;52(8):769-777. doi: 10.1038/s41588-020-0652-z. Epub 2020 Jun 29.
Nat Genet. 2020.
PMID: 32601476
Free PMC article.
Clinical Trial.
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ORE identifies extreme expression effects enriched for rare variants.
Richter F, Hoffman GE, Manheimer KB, Patel N, Sharp AJ, McKean D, Morton SU, DePalma S, Gorham J, Kitaygorodksy A, Porter GA, Giardini A, Shen Y, Chung WK, Seidman JG, Seidman CE, Schadt EE, Gelb BD.
Richter F, et al. Among authors: manheimer kb.
Bioinformatics. 2019 Oct 15;35(20):3906-3912. doi: 10.1093/bioinformatics/btz202.
Bioinformatics. 2019.
PMID: 30903145
Free PMC article.
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Dynamic and Stable Cohesins Regulate Synaptonemal Complex Assembly and Chromosome Segregation.
Gyuricza MR, Manheimer KB, Apte V, Krishnan B, Joyce EF, McKee BD, McKim KS.
Gyuricza MR, et al. Among authors: manheimer kb.
Curr Biol. 2016 Jul 11;26(13):1688-1698. doi: 10.1016/j.cub.2016.05.006. Epub 2016 Jun 9.
Curr Biol. 2016.
PMID: 27291057
Free PMC article.
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