Keegan CE - Search Results

1

Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.

Vlangos CN, Siuniak AN, Robinson D, Chinnaiyan AM, Lyons RH Jr, Cavalcoli JD, Keegan CE. Vlangos CN, et al. Among authors: keegan ce. PLoS Genet. 2013;9(2):e1003205. doi: 10.1371/journal.pgen.1003205. Epub 2013 Feb 21. PLoS Genet. 2013. PMID: 23437000 Free PMC article.

2

Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis.

Vlangos CN, O'Connor BC, Morley MJ, Krause AS, Osawa GA, Keegan CE. Vlangos CN, et al. Among authors: keegan ce. Dev Biol. 2009 Oct 15;334(2):418-28. doi: 10.1016/j.ydbio.2009.07.038. Epub 2009 Aug 3. Dev Biol. 2009. PMID: 19660449 Free PMC article.

3

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.

Vlangos CN, Siuniak A, Ackley T, van Bokhoven H, Veltman J, Iyer R, Park JM, Keppler-Noreuil K, Keegan CE. Vlangos CN, et al. Among authors: keegan ce. Am J Med Genet A. 2011 Jan;155A(1):38-49. doi: 10.1002/ajmg.a.33757. Am J Med Genet A. 2011. PMID: 21204209

4

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL. Srivastava A, et al. Among authors: keegan ce. Hum Mol Genet. 2016 Feb 1;25(3):597-608. doi: 10.1093/hmg/ddv499. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647312 Free PMC article.

5

Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.

Orchard P, White JS, Thomas PE, Mychalowych A, Kiseleva A, Hensley J, Allen B, Parker SCJ, Keegan CE. Orchard P, et al. Among authors: keegan ce. Hum Mol Genet. 2019 Mar 1;28(5):736-750. doi: 10.1093/hmg/ddy378. Hum Mol Genet. 2019. PMID: 30380057 Free PMC article.

6

Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator.

Keegan CE, Hutz JE, Else T, Adamska M, Shah SP, Kent AE, Howes JM, Beamer WG, Hammer GD. Keegan CE, et al. Hum Mol Genet. 2005 Jan 1;14(1):113-23. doi: 10.1093/hmg/ddi011. Epub 2004 Nov 10. Hum Mol Genet. 2005. PMID: 15537664

7

IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.

Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Lecointre C, McCabe ER, Hammer GD, Keegan CE. Hutz JE, et al. Among authors: keegan ce. Mol Genet Metab. 2006 May;88(1):66-70. doi: 10.1016/j.ymgme.2006.01.006. Epub 2006 Feb 28. Mol Genet Metab. 2006. PMID: 16504561

8

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. O'Rawe JA, et al. Among authors: keegan ce. Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005. Am J Hum Genet. 2015. PMID: 26637982 Free PMC article.

9

High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype.

Sucularli C, Thomas P, Kocak H, White JS, O'Connor BC, Keegan CE. Sucularli C, et al. Among authors: keegan ce. Gene. 2018 Dec 30;679:219-231. doi: 10.1016/j.gene.2018.09.002. Epub 2018 Sep 4. Gene. 2018. PMID: 30189268 Free PMC article.

10

Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.

Keegan CE, Mulliken JB, Wu BL, Korf BR. Keegan CE, et al. Genet Med. 2001 Jul-Aug;3(4):310-3. doi: 10.1097/00125817-200107000-00007. Genet Med. 2001. PMID: 11478532 Free article. Review.

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