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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 2 |
2020 | 4 |
2023 | 1 |
2024 | 0 |
Search Results
6 results
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Page 1
ORE identifies extreme expression effects enriched for rare variants.
Bioinformatics. 2019 Oct 15;35(20):3906-3912. doi: 10.1093/bioinformatics/btz202.
Bioinformatics. 2019.
PMID: 30903145
Free PMC article.
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
Diaz Perez KK, Curtis SW, Sanchis-Juan A, Zhao X, Head T, Ho S, Carter B, McHenry T, Bishop MR, Valencia-Ramirez LC, Restrepo C, Hecht JT, Uribe LM, Wehby G, Weinberg SM, Beaty TH, Murray JC, Feingold E, Marazita ML, Cutler DJ, Epstein MP, Brand H, Leslie EJ.
Diaz Perez KK, et al.
Genet Med. 2023 Oct;25(10):100918. doi: 10.1016/j.gim.2023.100918. Epub 2023 Jun 15.
Genet Med. 2023.
PMID: 37330696
Free article.
Item in Clipboard
Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing.
Seiden AH, Richter F, Patel N, Rodriguez OL, Deikus G, Shah H, Smith M, Roberts A, King EC, Sebra RP, Sharp AJ, Gelb BD.
Seiden AH, et al.
Hum Mutat. 2020 Apr;41(4):800-806. doi: 10.1002/humu.23971. Epub 2020 Jan 16.
Hum Mutat. 2020.
PMID: 31898844
Free PMC article.
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Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muñeton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chou YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ.
Bishop MR, et al.
Am J Hum Genet. 2020 Jul 2;107(1):124-136. doi: 10.1016/j.ajhg.2020.05.018. Epub 2020 Jun 22.
Am J Hum Genet. 2020.
PMID: 32574564
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.
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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Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.
Mukhopadhyay N, Bishop M, Mortillo M, Chopra P, Hetmanski JB, Taub MA, Moreno LM, Valencia-Ramirez LC, Restrepo C, Wehby GL, Hecht JT, Deleyiannis F, Butali A, Weinberg SM, Beaty TH, Murray JC, Leslie EJ, Feingold E, Marazita ML.
Mukhopadhyay N, et al.
Hum Genet. 2020 Feb;139(2):215-226. doi: 10.1007/s00439-019-02099-1. Epub 2019 Dec 17.
Hum Genet. 2020.
PMID: 31848685
Free PMC article.
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