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

508 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A. Di Scipio M, et al. Among authors: wilson md. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):36. doi: 10.1167/iovs.61.10.36. Invest Ophthalmol Vis Sci. 2020. PMID: 32881472 Free PMC article.
Autosomal dominant macular dystrophy linked to a chromosome 17 tandem duplication.
Adele R, Hussein R, Tavares E, Ahmed K, Di Scipio M, Charish J, Liang M, Monis S, Tumber A, Chen X, Paton TA, Roslin NM, Eileen C, Ivakine E, Sunny NE, Wilson MD, Campos E, Rajala RV, Maynes JT, Monnier PP, Paterson AD, Héon E, Vincent A. Adele R, et al. Among authors: wilson md. JCI Insight. 2024 Oct 22:e178768. doi: 10.1172/jci.insight.178768. Online ahead of print. JCI Insight. 2024. PMID: 39436697 Free article.
Cross-Cancer Analysis Reveals Novel Pleiotropic Associations-Response.
Hung RJ, Fehringer G, Casey G, Gruber SB, Peters U, Goode EL, Sellers TA, Haiman CA, Hunter DJ, Kraft P, Amos CI, Freedman ML, Wilson MD. Hung RJ, et al. Among authors: wilson md. Cancer Res. 2017 Nov 1;77(21):6045-6046. doi: 10.1158/0008-5472.CAN-17-1584. Epub 2017 Oct 24. Cancer Res. 2017. PMID: 29066515 Free PMC article. No abstract available.
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki KE, Haque B, Thiruvahindrapuram B, Marshall CR, Mendoza-Londono R, Shlien A, Kyriakopoulou LG, Walker S, Dowling JJ, Wilson MD, Costain G. Oh RY, et al. Among authors: wilson md. HGG Adv. 2024 Jul 18;5(3):100299. doi: 10.1016/j.xhgg.2024.100299. Epub 2024 Apr 24. HGG Adv. 2024. PMID: 38659227 Free PMC article.
Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Deshwar AR, et al. Among authors: wilson md. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28. Am J Hum Genet. 2023. PMID: 36990084 Free PMC article.
Single nucleotide polymorphisms in an intergenic chromosome 2q region associated with tissue factor pathway inhibitor plasma levels and venous thromboembolism.
Dennis J, Truong V, Aïssi D, Medina-Rivera A, Blankenberg S, Germain M, Lemire M, Antounians L, Civelek M, Schnabel R, Wells P, Wilson MD, Morange PE, Trégouët DA, Gagnon F. Dennis J, et al. Among authors: wilson md. J Thromb Haemost. 2016 Oct;14(10):1960-1970. doi: 10.1111/jth.13431. Epub 2016 Sep 17. J Thromb Haemost. 2016. PMID: 27490645 Free PMC article.
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
McQuaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-Hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert FM, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H. McQuaid ME, et al. Among authors: wilson md. JCI Insight. 2022 May 23;7(10):e155648. doi: 10.1172/jci.insight.155648. JCI Insight. 2022. PMID: 35603789 Free PMC article.
508 results