Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

142 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Effect of copy number variants on outcomes for infants with single ventricle heart defects.
Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD. Carey AS, et al. Among authors: sharp aj. Circ Cardiovasc Genet. 2013 Oct;6(5):444-51. doi: 10.1161/CIRCGENETICS.113.000189. Epub 2013 Sep 10. Circ Cardiovasc Genet. 2013. PMID: 24021551 Free PMC article. Clinical Trial.
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG. Radhakrishna U, et al. Among authors: sharp aj. J Med Genet. 2012 Apr;49(4):270-6. doi: 10.1136/jmedgenet-2012-100826. J Med Genet. 2012. PMID: 22499347 Free PMC article.
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE. Sailani MR, et al. Among authors: sharp aj. Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19. Genome Res. 2013. PMID: 23783273 Free PMC article.
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. Among authors: sharp aj. 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.
Identification of rare de novo epigenetic variations in congenital disorders.
Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Barbosa M, et al. Among authors: sharp aj. Nat Commun. 2018 May 25;9(1):2064. doi: 10.1038/s41467-018-04540-x. Nat Commun. 2018. PMID: 29802345 Free PMC article.
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: sharp aj. Bioinformatics. 2019 Oct 15;35(20):3906-3912. doi: 10.1093/bioinformatics/btz202. Bioinformatics. 2019. PMID: 30903145 Free PMC article.
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.
Martin-Trujillo A, Patel N, Richter F, Jadhav B, Garg P, Morton SU, McKean DM, DePalma SR, Goldmuntz E, Gruber D, Kim R, Newburger JW, Porter GA Jr, Giardini A, Bernstein D, Tristani-Firouzi M, Seidman JG, Seidman CE, Chung WK, Gelb BD, Sharp AJ. Martin-Trujillo A, et al. Among authors: sharp aj. PLoS Genet. 2020 Nov 20;16(11):e1009189. doi: 10.1371/journal.pgen.1009189. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33216750 Free PMC article.
142 results