Parad RB - Search Results

1

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs.

Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, Parad RB, Witt D, Klinger KW. Richards B, et al. Among authors: parad rb. Hum Mol Genet. 1993 Feb;2(2):159-63. doi: 10.1093/hmg/2.2.159. Hum Mol Genet. 1993. PMID: 7684637

2

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center.

Wheeler PG, Smith R, Dorkin H, Parad RB, Comeau AM, Bianchi DW. Wheeler PG, et al. Among authors: parad rb. Genet Med. 2001 Nov-Dec;3(6):411-5. doi: 10.1097/00125817-200111000-00006. Genet Med. 2001. PMID: 11715005 Free article.

3

Cystic fibrosis newborn screening: using experience to optimize the screening algorithm.

Hale JE, Parad RB, Dorkin HL, Gerstle R, Lapey A, O'Sullivan BP, Spencer T, Yee W, Comeau AM. Hale JE, et al. Among authors: parad rb. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S255-61. doi: 10.1007/s10545-010-9117-3. Epub 2010 Jun 3. J Inherit Metab Dis. 2010. PMID: 20521170

4

Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype.

O'Sullivan BP, Zwerdling RG, Dorkin HL, Comeau AM, Parad R. O'Sullivan BP, et al. Pediatrics. 2006 Sep;118(3):1260-5. doi: 10.1542/peds.2006-0399. Pediatrics. 2006. PMID: 16951024

5

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB. Comeau AM, et al. Among authors: parad rb. Pediatrics. 2004 Jun;113(6):1573-81. doi: 10.1542/peds.113.6.1573. Pediatrics. 2004. PMID: 15173476

6

Sweat testing infants detected by cystic fibrosis newborn screening.

Parad RB, Comeau AM, Dorkin HL, Dovey M, Gerstle R, Martin T, O'Sullivan BP. Parad RB, et al. J Pediatr. 2005 Sep;147(3 Suppl):S69-72. doi: 10.1016/j.jpeds.2005.08.015. J Pediatr. 2005. PMID: 16202787

7

Communications systems and their models: Massachusetts parent compliance with recommended specialty care after positive cystic fibrosis newborn screening result.

Comeau AM, Parad R, Gerstle R, O'Sullivan BP, Dorkin HL, Dovey M, Haver K, Martin T, Eaton RB. Comeau AM, et al. Among authors: parad r. J Pediatr. 2005 Sep;147(3 Suppl):S98-100. doi: 10.1016/j.jpeds.2005.08.007. J Pediatr. 2005. PMID: 16202793

8

Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.

Parad RB. Parad RB. J Med Genet. 1996 Aug;33(8):711-3. doi: 10.1136/jmg.33.8.711. J Med Genet. 1996. PMID: 8863168 Free PMC article.

9

Challenges in implementing a successful newborn cystic fibrosis screening program.

Comeau AM, Parad R, Gerstle R, O'Sullivan BP, Dorkin HL, Dovey M, Haver K, Martin T, Eaton RB. Comeau AM, et al. Among authors: parad r. J Pediatr. 2005 Sep;147(3 Suppl):S89-93. doi: 10.1016/j.jpeds.2005.08.006. J Pediatr. 2005. PMID: 16202791 Review.

10

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team. Ceyhan-Birsoy O, et al. Among authors: parad rb. Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016. Am J Hum Genet. 2019. PMID: 30609409 Free PMC article.

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