Rehder CW - Search Results

1

Identification of EPCAM mutation: clinical use of microarray.

Tan QK, Cardona DM, Rehder CW, McDonald MT. Tan QK, et al. Among authors: rehder cw. Clin Case Rep. 2017 May 10;5(6):980-985. doi: 10.1002/ccr3.914. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588851 Free PMC article.

2

Clinical experience with array CGH: case presentations from nine months of practice.

Poss AF, Goldenberg PC, Rehder CW, Kearney HM, Melvin EC, Koeberl DD, McDonald MT. Poss AF, et al. Among authors: rehder cw. Am J Med Genet A. 2006 Oct 1;140(19):2050-6. doi: 10.1002/ajmg.a.31417. Am J Med Genet A. 2006. PMID: 16906557

3

Practical considerations in the clinical application of whole-exome sequencing.

Shashi V, McConkie-Rosell A, Schoch K, Kasturi V, Rehder C, Jiang YH, Goldstein DB, McDonald MT. Shashi V, et al. Clin Genet. 2016 Feb;89(2):173-81. doi: 10.1111/cge.12569. Epub 2015 Mar 15. Clin Genet. 2016. PMID: 25678066

4

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.

Stiles AR, Zhang H, Dai J, McCaw P, Beasley J, Rehder C, Koeberl DD, McDonald M, Bali DS, Young SP. Stiles AR, et al. Mol Genet Metab. 2020 Jul;130(3):209-214. doi: 10.1016/j.ymgme.2020.04.006. Epub 2020 May 3. Mol Genet Metab. 2020. PMID: 32418857

5

Early experience with universal preprocedural testing for SARS-CoV-2 in a relatively low-prevalence area.

Lewis SS, Smith BA, Akinboyo IC, Seidelman J, Wolfe C, Kirk AB, Martin G, Denny T, Lobaugh B, Rehder C, Cardona D, Lee MJ, Polage CR, Datto MB. Lewis SS, et al. Infect Control Hosp Epidemiol. 2021 Mar;42(3):341-343. doi: 10.1017/ice.2020.398. Epub 2020 Aug 3. Infect Control Hosp Epidemiol. 2021. PMID: 32741409 Free PMC article.

6

Assessment of an Online Tool to Simulate the Effect of Pooled Testing for SARS-CoV-2 Detection in Asymptomatic and Symptomatic Populations.

Polage CR, Lee MJ, Hubbard C, Rehder C, Cardona D, Denny T, Datto MB. Polage CR, et al. JAMA Netw Open. 2020 Dec 1;3(12):e2031517. doi: 10.1001/jamanetworkopen.2020.31517. JAMA Netw Open. 2020. PMID: 33301014 Free PMC article.

7

An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.

Williams JL, McDonald MT, Seifert BA, Deak KL, Rehder CW, Campbell MJ. Williams JL, et al. Among authors: rehder cw. J Pediatr Genet. 2021 Mar;10(1):35-38. doi: 10.1055/s-0039-1701020. Epub 2020 Jan 20. J Pediatr Genet. 2021. PMID: 33552636 Free PMC article.

8

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A; Undiagnosed Diseases Network; Vilain E, Shashi V. Cope H, et al. Mol Genet Genomic Med. 2021 Jul;9(7):e1665. doi: 10.1002/mgg3.1665. Epub 2021 May 6. Mol Genet Genomic Med. 2021. PMID: 33955715 Free PMC article.

9

Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.

Xu Q, Goldstein J, Wang P, Gadi IK, Labreche H, Rehder C, Wang WP, McConkie A, Xu X, Jiang YH. Xu Q, et al. Pediatr Res. 2016 Sep;80(3):371-81. doi: 10.1038/pr.2016.101. Epub 2016 Apr 27. Pediatr Res. 2016. PMID: 27119313 Free PMC article.

10

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Mori M, et al. Among authors: rehder cw. JIMD Rep. 2017;31:79-83. doi: 10.1007/8904_2016_563. Epub 2016 May 4. JIMD Rep. 2017. PMID: 27142047 Free PMC article.

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