Waggoner D - Search Results

1

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: waggoner d. J Med Genet. 2005 Apr;42(4):307-13. doi: 10.1136/jmg.2004.027755. J Med Genet. 2005. PMID: 15805156 Free PMC article.

2

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: waggoner d. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7. Am J Hum Genet. 2005. PMID: 15942875 Free PMC article.

3

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.

4

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. Martin CL, et al. Among authors: waggoner dj. J Med Genet. 2002 Oct;39(10):734-40. doi: 10.1136/jmg.39.10.734. J Med Genet. 2002. PMID: 12362030 Free PMC article.

5

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.

Dempsey MA, Schwartz S, Waggoner DJ. Dempsey MA, et al. Am J Med Genet A. 2007 May 15;143A(10):1082-6. doi: 10.1002/ajmg.a.31697. Am J Med Genet A. 2007. PMID: 17431914

6

4q21 microdeletion in a patient with epilepsy and brain malformations.

Yano S, McNamara M, Halbach S, Waggoner D. Yano S, et al. Among authors: waggoner d. Am J Med Genet A. 2015 Jun;167(6):1409-13. doi: 10.1002/ajmg.a.36910. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847229 No abstract available.

7

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

8

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.

Bhoj E, Halbach S, McDonald-McGinn D, Tan C, Lande R, Waggoner D, Zackai E. Bhoj E, et al. Among authors: waggoner d. Am J Med Genet A. 2013 Sep;161A(9):2327-33. doi: 10.1002/ajmg.a.36061. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913759

9

Partial monosomy of distal 10q: three new cases and a review.

Waggoner DJ, Chow CK, Dowton SB, Watson MS. Waggoner DJ, et al. Am J Med Genet. 1999 Sep 3;86(1):1-5. Am J Med Genet. 1999. PMID: 10440820 Review.

10

Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.

Nolan DK, Chen P, Das S, Ober C, Waggoner D. Nolan DK, et al. Among authors: waggoner d. Am J Med Genet A. 2008 Jun 1;146A(11):1414-22. doi: 10.1002/ajmg.a.32307. Am J Med Genet A. 2008. PMID: 18446860

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