Palomaki GE - Search Results

1

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.

Richards CS, Palomaki GE, Lacbawan FL, Lyon E, Feldman GL; CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Richards CS, et al. Among authors: palomaki ge. Genet Med. 2014 Jan;16(1):25-32. doi: 10.1038/gim.2013.65. Epub 2013 May 23. Genet Med. 2014. PMID: 23703682 Free article.

2

Second-trimester levels of maternal serum unconjugated oestriol and human chorionic gonadotropin in pregnancies affected by fetal anencephaly and open spina bifida.

Canick JA, Knight GJ, Palomaki GE, Haddow JE. Canick JA, et al. Among authors: palomaki ge. Prenat Diagn. 1990 Nov;10(11):733-7. doi: 10.1002/pd.1970101107. Prenat Diagn. 1990. PMID: 2284275

3

Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome.

Canick JA, Knight GJ, Palomaki GE, Haddow JE, Cuckle HS, Wald NJ. Canick JA, et al. Among authors: palomaki ge. Br J Obstet Gynaecol. 1988 Apr;95(4):330-3. doi: 10.1111/j.1471-0528.1988.tb06601.x. Br J Obstet Gynaecol. 1988. PMID: 2968116

4

Second-trimester maternal serum alpha-fetoprotein, unconjugated estriol, and hCG levels in pregnancies with ventral wall defects.

Saller DN Jr, Canick JA, Palomaki GE, Knight GJ, Haddow JE. Saller DN Jr, et al. Among authors: palomaki ge. Obstet Gynecol. 1994 Nov;84(5):852-5. Obstet Gynecol. 1994. PMID: 7524003

5

Is MoM bashing justified?

Palomaki GE, Knight GJ, Haddow JE. Palomaki GE, et al. Am J Hum Genet. 1993 Sep;53(3):777-81. Am J Hum Genet. 1993. PMID: 7688935 Free PMC article. No abstract available.

6

Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.

Bradley LA, Palomaki GE, Knight GJ, Haddow JE, Opitz JM, Irons M, Kelley RI, Tint GS. Bradley LA, et al. Among authors: palomaki ge. Am J Med Genet. 1999 Feb 12;82(4):355-8. doi: 10.1002/(sici)1096-8628(19990212)82:4<355::aid-ajmg16>3.0.co;2-4. Am J Med Genet. 1999. PMID: 10051173 Review. No abstract available.

7

Standards and guidelines for CFTR mutation testing.

Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinnis MJ, Prior TW, Popovich BW, Watson MS, Palomaki GE. Richards CS, et al. Among authors: palomaki ge. Genet Med. 2002 Sep-Oct;4(5):379-91. doi: 10.1097/00125817-200209000-00010. Genet Med. 2002. PMID: 12394352 Free article.

8

Analytic validity of cystic fibrosis testing: a preliminary estimate.

Palomaki GE, Bradley LA, Richards CS, Haddow JE. Palomaki GE, et al. Genet Med. 2003 Jan-Feb;5(1):15-20. doi: 10.1097/00125817-200301000-00003. Genet Med. 2003. PMID: 12544471 Free article.

9

Epidemiologic monitoring of prenatal screening for neural tube defects and Down syndrome.

Knight GJ, Palomaki GE. Knight GJ, et al. Among authors: palomaki ge. Clin Lab Med. 2003 Jun;23(2):531-51, xi. doi: 10.1016/s0272-2712(03)00023-4. Clin Lab Med. 2003. PMID: 12848457 Review.

10

Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing.

Palomaki GE, Haddow JE, Bradley LA, Richards CS, Stenzel TT, Grody WW. Palomaki GE, et al. Genet Med. 2003 Nov-Dec;5(6):440-3. doi: 10.1097/01.gim.0000096500.66084.85. Genet Med. 2003. PMID: 14614395

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