Waggoner D - Search Results

1

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S, Waggoner D, Moskowitz I, McNally EM. Dellefave LM, et al. Among authors: waggoner d. Circ Cardiovasc Genet. 2009 Oct;2(5):442-9. doi: 10.1161/CIRCGENETICS.109.861955. Epub 2009 Jul 24. Circ Cardiovasc Genet. 2009. PMID: 20031619 Clinical Trial.

2

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

MacLeod H, Pytel P, Wollmann R, Chelmicka-Schorr E, Silver K, Anderson RB, Waggoner D, McNally EM. MacLeod H, et al. Among authors: waggoner d. Neuromuscul Disord. 2007 Apr;17(4):285-9. doi: 10.1016/j.nmd.2007.01.005. Epub 2007 Mar 1. Neuromuscul Disord. 2007. PMID: 17336067

3

Two Children with macrocephaly, developmental delay, and PTEN mutation.

Schwab JG, Pena L, Waggoner D, Pytel P. Schwab JG, et al. Among authors: waggoner d. Clin Pediatr (Phila). 2009 Jan;48(1):89-92. doi: 10.1177/0009922808321679. Epub 2008 Jul 14. Clin Pediatr (Phila). 2009. PMID: 18626099 No abstract available.

4

A 13-year old female with intractable seizures.

Can NT, Nolan A, Waggoner D, Silver K, Pytel P. Can NT, et al. Among authors: waggoner d. Brain Pathol. 2015 Mar;25(2):231-2. doi: 10.1111/bpa.12245. Brain Pathol. 2015. PMID: 25677067 Free PMC article. No abstract available.

5

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.

Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ. Gerull B, et al. Among authors: waggoner d. Circ Cardiovasc Genet. 2013 Aug;6(4):327-36. doi: 10.1161/CIRCGENETICS.113.000097. Epub 2013 Jul 17. Circ Cardiovasc Genet. 2013. PMID: 23863954

6

An estimate of the average number of recessive lethal mutations carried by humans.

Gao Z, Waggoner D, Stephens M, Ober C, Przeworski M. Gao Z, et al. Among authors: waggoner d. Genetics. 2015 Apr;199(4):1243-54. doi: 10.1534/genetics.114.173351. Epub 2015 Feb 18. Genetics. 2015. PMID: 25697177 Free PMC article.

7

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C. Chong JX, et al. Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13. Am J Hum Genet. 2012. PMID: 22981120 Free PMC article.

8

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S. Waggoner DJ, et al. Genet Med. 2005 Oct;7(8):524-33. doi: 10.1097/01.GIM.0000178503.15559.d3. Genet Med. 2005. PMID: 16247291 Free article.

9

Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.

Reshmi SC, Miller JL, Deplewski D, Close C, Henderson LJ, Littlejohn E, Schwartz S, Waggoner DJ. Reshmi SC, et al. Among authors: waggoner dj. Eur J Med Genet. 2011 Mar-Apr;54(2):161-4. doi: 10.1016/j.ejmg.2010.11.002. Epub 2010 Nov 13. Eur J Med Genet. 2011. PMID: 21078420

10

Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.

Eash D, Waggoner D, Chung J, Stevenson D, Martin CL. Eash D, et al. Among authors: waggoner d. Clin Genet. 2005 May;67(5):396-403. doi: 10.1111/j.1399-0004.2005.00424.x. Clin Genet. 2005. PMID: 15811006

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