Feldman GL - Search Results

1

The Current State of Newborn Screening in the United States.

Fabie NAV, Pappas KB, Feldman GL. Fabie NAV, et al. Among authors: feldman gl. Pediatr Clin North Am. 2019 Apr;66(2):369-386. doi: 10.1016/j.pcl.2018.12.007. Pediatr Clin North Am. 2019. PMID: 30819343 Review.

2

Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.

Jay AM, Conway RL, Feldman GL, Nahhas F, Spencer L, Wolf B. Jay AM, et al. Among authors: feldman gl. Genet Med. 2015 Mar;17(3):205-9. doi: 10.1038/gim.2014.104. Epub 2014 Aug 21. Genet Med. 2015. PMID: 25144890 Free article.

3

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B. Li H, et al. Mol Genet Metab. 2014 Jul;112(3):242-6. doi: 10.1016/j.ymgme.2014.04.002. Epub 2014 Apr 16. Mol Genet Metab. 2014. PMID: 24797656

4

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.

Thakur M, Feldman G, Puscheck EE. Thakur M, et al. J Assist Reprod Genet. 2018 Jan;35(1):3-16. doi: 10.1007/s10815-017-1039-7. Epub 2017 Sep 20. J Assist Reprod Genet. 2018. PMID: 28932969 Free PMC article. Review.

5

Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn.

Agarwal R, Feldman GL, Poulik J, Stockton DW, Sood BG. Agarwal R, et al. Among authors: feldman gl. J Neonatal Perinatal Med. 2014 Jan 1;7(3):247-51. doi: 10.3233/NPM-14814004. J Neonatal Perinatal Med. 2014. PMID: 25322992

6

Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations.

Monaghan KG, Bluhm D, Phillips M, Feldman GL. Monaghan KG, et al. Among authors: feldman gl. Genet Med. 2004 May-Jun;6(3):141-4. doi: 10.1097/01.gim.0000127269.42279.83. Genet Med. 2004. PMID: 15354332

7

Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population.

Monaghan KG, Feldman GL, Palomaki GE, Spector EB; Ashkenazi Jewish Reproductive Screening Working Group; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Monaghan KG, et al. Among authors: feldman gl. Genet Med. 2008 Jan;10(1):57-72. doi: 10.1097/GIM.0b013e31815f6eac. Genet Med. 2008. PMID: 18197058 Free article.

8

Cystic Fibrosis testing among Arab-Americans.

Wei S, Feldman GL, Monaghan KG. Wei S, et al. Among authors: feldman gl. Genet Med. 2006 Apr;8(4):255-8. doi: 10.1097/01.gim.0000214453.74456.f3. Genet Med. 2006. PMID: 16617247 Free article.

9

Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D. Majumdar R, et al. Among authors: feldman gl. Mol Genet Genomic Med. 2017 Nov;5(6):795-799. doi: 10.1002/mgg3.333. Epub 2017 Sep 11. Mol Genet Genomic Med. 2017. PMID: 29178637 Free PMC article.

10

The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.

Berry SA, Jurek AM, Anderson C, Bentler K; Region 4 Genetics Collaborative Priority 2 Workgroup. Berry SA, et al. Genet Med. 2010 Dec;12(12 Suppl):S215-9. doi: 10.1097/GIM.0b013e3181fe5d23. Genet Med. 2010. PMID: 21150367 Free article.

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