Gold J - Search Results

1

Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.

Gold NB, Harrison SM, Rowe JH, Gold J, Furutani E, Biffi A, Duncan CN, Shimamura A, Lehmann LE, Green RC. Gold NB, et al. Among authors: gold j. HGG Adv. 2021 Sep 25;3(1):100059. doi: 10.1016/j.xhgg.2021.100059. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047849 Free PMC article.

2

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.

Strong A, Skraban C, Meyers K, Amaral S, Furth S, Drant S, Hsiao W, Galea L, Gold J, Gold NB, Leonard J, Lopez S, Zackai EH, Pyeritz RE. Strong A, et al. Among authors: gold j, gold nb. Am J Med Genet A. 2021 Dec;185(12):3762-3769. doi: 10.1002/ajmg.a.62449. Epub 2021 Aug 6. Am J Med Genet A. 2021. PMID: 34355836 Free PMC article.

3

Hepatic Manifestations of Urea Cycle Disorders.

Strong A, Gold J, Gold NB, Yudkoff M. Strong A, et al. Among authors: gold j, gold nb. Clin Liver Dis (Hoboken). 2021 Sep 1;18(4):198-203. doi: 10.1002/cld.1115. eCollection 2021 Oct. Clin Liver Dis (Hoboken). 2021. PMID: 34745578 Free PMC article.

4

Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review.

Gold JI, Gold NB, DeLeon DD, Ganetzky R. Gold JI, et al. Orphanet J Rare Dis. 2022 Feb 8;17(1):41. doi: 10.1186/s13023-022-02188-x. Orphanet J Rare Dis. 2022. PMID: 35135572 Free PMC article. Review.

5

The current state of adult metabolic medicine in the United States: Results of a nationwide survey.

Gold JI, Gold NB, Strong A, Tully E, Xiao R, Schwartz LA, Ficicioglu C. Gold JI, et al. Genet Med. 2022 Aug;24(8):1722-1731. doi: 10.1016/j.gim.2022.04.018. Epub 2022 May 11. Genet Med. 2022. PMID: 35543711 Free PMC article.

6

Perspectives of Rare Disease Experts on Newborn Genome Sequencing.

Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, Gold JI, Strong A, Ganetzky R, Roberts AE, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm IA, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC. Gold NB, et al. Among authors: gold ji. JAMA Netw Open. 2023 May 1;6(5):e2312231. doi: 10.1001/jamanetworkopen.2023.12231. JAMA Netw Open. 2023. PMID: 37155167 Free PMC article.

7

Phenotypes of undiagnosed adults with actionable OTC and GLA variants.

Gold JI, Madhavan S, Park J, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D; Regeneron Genetics Center; Penn Medicine BioBank; Green RC, Gold NB. Gold JI, et al. Among authors: gold nb. HGG Adv. 2023 Jul 29;4(4):100226. doi: 10.1016/j.xhgg.2023.100226. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37593415 Free PMC article.

8

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.

Grady LO, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Yeo J, Green RC, Karaa A, Gold NB. Grady LO, et al. Among authors: gold j, gold nb. Am J Med Genet A. 2024 Nov 19:e63940. doi: 10.1002/ajmg.a.63940. Online ahead of print. Am J Med Genet A. 2024. PMID: 39559959

9

Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease.

Gold JI, Strong A, Gold NB, Yudkoff M, Szalda D, Jan S, Schwartz LA, Ganetzky R. Gold JI, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12827. doi: 10.1002/jimd.12827. Epub 2024 Dec 10. J Inherit Metab Dis. 2025. PMID: 39655455

10

Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening.

Gold JI, Campbell IM, Ficicioglu C. Gold JI, et al. Int J Neonatal Screen. 2021 Jul 7;7(3):38. doi: 10.3390/ijns7030038. Int J Neonatal Screen. 2021. PMID: 34287223 Free PMC article.

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