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.


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


My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 2
2013 2
2017 1
2018 4
2019 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Wooderchak-Donahue WL, Johnson P, McDonald J, Blei F, Berenstein A, Sorscher M, Mayer J, Scheuerle AE, Lewis T, Grimmer JF, Richter GT, Steeves MA, Lin AE, Stevenson DA, Bayrak-Toydemir P. Wooderchak-Donahue WL, et al. Eur J Hum Genet. 2018 Oct;26(10):1521-1536. doi: 10.1038/s41431-018-0196-1. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891884 Free PMC article.
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P. Wooderchak-Donahue WL, et al. J Med Genet. 2018 Dec;55(12):824-830. doi: 10.1136/jmedgenet-2018-105561. Epub 2018 Sep 22. J Med Genet. 2018. PMID: 30244195
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Wooderchak-Donahue WL, Akay G, Whitehead K, Briggs E, Stevenson DA, O'Fallon B, Velinder M, Farrell A, Shen W, Bedoukian E, Skrabann CM, Antaya RJ, Henderson K, Pollak J, Treat J, Day R, Jacher JE, Hannibal M, Bontempo K, Marth G, Bayrak-Toydemir P, McDonald J. Wooderchak-Donahue WL, et al. Genet Med. 2019 Sep;21(9):2007-2014. doi: 10.1038/s41436-019-0443-z. Epub 2019 Feb 14. Genet Med. 2019. PMID: 30760892 Free article.
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, Young S, Plant P, Fülöp GT, Langa C, Morrell NW, Botella LM, Bernabeu C, Stevenson DA, Runo JR, Bayrak-Toydemir P. Wooderchak-Donahue WL, et al. Am J Hum Genet. 2013 Sep 5;93(3):530-7. doi: 10.1016/j.ajhg.2013.07.004. Epub 2013 Aug 22. Am J Hum Genet. 2013. PMID: 23972370 Free PMC article.