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Items: 9

1.

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.

Genet Med. 2019 Sep;21(9):2007-2014. doi: 10.1038/s41436-019-0443-z. Epub 2019 Feb 14.

PMID:
30760892
2.

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.

J Med Genet. 2018 Dec;55(12):824-830. doi: 10.1136/jmedgenet-2018-105561. Epub 2018 Sep 22.

PMID:
30244195
3.

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.

Eur J Hum Genet. 2018 Oct;26(10):1521-1536. doi: 10.1038/s41431-018-0196-1. Epub 2018 Jun 11.

4.

Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.

McDonald J, Wooderchak-Donahue WL, Henderson K, Paul E, Morris A, Bayrak-Toydemir P.

Am J Med Genet A. 2018 Jul;176(7):1618-1621. doi: 10.1002/ajmg.a.38695. Epub 2018 May 7.

PMID:
29736967
5.

Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia.

Jiang X, Wooderchak-Donahue WL, McDonald J, Ghatpande P, Baalbaki M, Sandoval M, Hart D, Clay H, Coughlin S, Lagna G, Bayrak-Toydemir P, Hata A.

Sci Signal. 2018 Jan 16;11(513). pii: eaan6831. doi: 10.1126/scisignal.aan6831.

6.

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.

Carlston CM, Afify ZA, Palumbos JC, Bagley H, Barbagelata C, Wooderchak-Donahue WL, Mao R, Carey JC.

Am J Med Genet A. 2017 Oct;173(10):2622-2627. doi: 10.1002/ajmg.a.38360. Epub 2017 Jul 25.

PMID:
28742285
7.

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.

Am J Hum Genet. 2013 Sep 5;93(3):530-7. doi: 10.1016/j.ajhg.2013.07.004. Epub 2013 Aug 22.

8.

Substrate-induced control of product formation by protein arginine methyltransferase 1.

Gui S, Wooderchak-Donahue WL, Zang T, Chen D, Daly MP, Zhou ZS, Hevel JM.

Biochemistry. 2013 Jan 8;52(1):199-209. doi: 10.1021/bi301283t. Epub 2012 Dec 21.

PMID:
23214442
9.

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.

Wooderchak-Donahue WL, O'Fallon B, Furtado LV, Durtschi JD, Plant P, Ridge PG, Rope AF, Yetman AT, Bayrak-Toydemir P.

BMC Med Genomics. 2012 Nov 14;5:50. doi: 10.1186/1755-8794-5-50.

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