McCabe ER - Search Results

1

Genome-wide testing: genomic medicine: commentary on the article by Bar-Shira et al. on page 353.

McGhee SA, McCabe ER. McGhee SA, et al. Among authors: mccabe er. Pediatr Res. 2006 Sep;60(3):243-4. doi: 10.1203/01.pdr.0000233116.85413.cd. Pediatr Res. 2006. PMID: 16923947 No abstract available.

2

Two-tiered universal newborn screening strategy for severe combined immunodeficiency.

McGhee SA, Stiehm ER, Cowan M, Krogstad P, McCabe ER. McGhee SA, et al. Among authors: mccabe er. Mol Genet Metab. 2005 Dec;86(4):427-30. doi: 10.1016/j.ymgme.2005.09.005. Epub 2005 Nov 2. Mol Genet Metab. 2005. PMID: 16260163

3

Potential costs and benefits of newborn screening for severe combined immunodeficiency.

McGhee SA, Stiehm ER, McCabe ER. McGhee SA, et al. Among authors: mccabe er. J Pediatr. 2005 Nov;147(5):603-8. doi: 10.1016/j.jpeds.2005.06.001. J Pediatr. 2005. PMID: 16291349

4

Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome.

Stanczak CM, Chen Z, Nelson SF, Suchard M, McCabe ER, McGhee S. Stanczak CM, et al. Among authors: mccabe er. Hum Mutat. 2008 Jan;29(1):176-81. doi: 10.1002/humu.20593. Hum Mutat. 2008. PMID: 17694540

5

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioğlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA. Engelhardt KR, et al. Among authors: mccabe er. J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038. J Allergy Clin Immunol. 2009. PMID: 20004785 Free PMC article.

6

Nanopediatrics: enabling personalized medicine for children.

McCabe ER. McCabe ER. Pediatr Res. 2010 May;67(5):453-7. doi: 10.1203/PDR.0b013e3181d61ed2. Pediatr Res. 2010. PMID: 20118826 Review.

7

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

Zhang YH, Huang BL, Jialal I, Northrup H, McCabe ER, Dipple KM. Zhang YH, et al. Among authors: mccabe er. Pediatr Res. 2006 Apr;59(4 Pt 1):590-2. doi: 10.1203/01.pdr.0000203092.83074.eb. Pediatr Res. 2006. PMID: 16549535

8

American Pediatric Society presidential address 2007: Robust complex networks in health, disease and international pediatric research.

McCabe ER. McCabe ER. Pediatr Res. 2007 Sep;62(3):374-9. doi: 10.1203/PDR.0b013e3181515110. Pediatr Res. 2007. PMID: 17712287 No abstract available.

9

Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.

Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER. Stanczak CM, et al. Among authors: mccabe er. Hum Mutat. 2007 Mar;28(3):235-42. doi: 10.1002/humu.20424. Hum Mutat. 2007. PMID: 17089405

10

Pathway analysis software: annotation errors and solutions.

Henderson-Maclennan NK, Papp JC, Talbot CC Jr, McCabe ER, Presson AP. Henderson-Maclennan NK, et al. Among authors: mccabe er. Mol Genet Metab. 2010 Oct-Nov;101(2-3):134-40. doi: 10.1016/j.ymgme.2010.06.005. Epub 2010 Jun 22. Mol Genet Metab. 2010. PMID: 20663702 Free PMC article.

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