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Page 1
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT. Gloyn AL, et al. Among authors: freedenberg d. Hum Mol Genet. 2005 Apr 1;14(7):925-34. doi: 10.1093/hmg/ddi086. Epub 2005 Feb 17. Hum Mol Genet. 2005. PMID: 15718250
Newborn screening analytes and structural birth defects among 27,000 newborns.
Lupo PJ, Archer NP, Harris RD, Marengo LK, Schraw JM, Hoyt AT, Tanksley S, Lee R, Drummond-Borg M, Freedenberg D, Shetty PB, Agopian AJ, Shumate C, Rasmussen SA, Langlois PH, Canfield MA. Lupo PJ, et al. Among authors: freedenberg d. PLoS One. 2024 Jul 5;19(7):e0304238. doi: 10.1371/journal.pone.0304238. eCollection 2024. PLoS One. 2024. PMID: 38968308 Free PMC article.
The association between newborn screening analytes as measured on a second screen and childhood autism in a Texas Medicaid population.
Langlois PH, Canfield MA, Rutenberg GW, Mandell DJ, Hua F, Reilly B, Ruktanonchai DJ, Jackson JF, Hunt P, Freedenberg D, Lee R, Villanacci JF. Langlois PH, et al. Among authors: freedenberg d. Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):331-340. doi: 10.1002/ajmg.b.32804. Epub 2020 Jul 13. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 32657040
A Newborn Screening Education Best Practices Framework: Development and Adoption.
Evans A, LeBlanc K, Bonhomme N, Shone SM, Gaviglio A, Freedenberg D, Penn J, Johnson C, Vogel B, Dolan SM, Goldenberg AJ. Evans A, et al. Among authors: freedenberg d. Int J Neonatal Screen. 2019 Jun 1;5(2):22. doi: 10.3390/ijns5020022. eCollection 2019 Jun. Int J Neonatal Screen. 2019. PMID: 33072981 Free PMC article. Review.
The association between newborn screening analytes and childhood autism in a Texas Medicaid population, 2010-2012.
Canfield MA, Langlois PH, Rutenberg GW, Mandell DJ, Hua F, Reilly B, Ruktanonchai DJ, Jackson JF, Hunt P, Freedenberg D, Lee R, Villanacci JF. Canfield MA, et al. Among authors: freedenberg d. Am J Med Genet B Neuropsychiatr Genet. 2019 Jul;180(5):291-304. doi: 10.1002/ajmg.b.32728. Epub 2019 Apr 24. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 31016859
Health Supervision for Children With Neurofibromatosis Type 1.
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS. Miller DT, et al. Among authors: freedenberg d. Pediatrics. 2019 May;143(5):e20190660. doi: 10.1542/peds.2019-0660. Pediatrics. 2019. PMID: 31010905 Review.
27 results