Regier D - Search Results

1

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Calame DG, et al. Among authors: regier d. Brain. 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. Brain. 2023. PMID: 37043503 Free PMC article.

2

Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.

Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E. Berger SI, et al. Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17. Clin Genet. 2023. PMID: 37194472

3

Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.

Regier DS, Ferreira CR, Hart S, Hadley DW, Muenke M. Regier DS, et al. Mol Genet Genomic Med. 2017 Nov;5(6):621-630. doi: 10.1002/mgg3.343. Mol Genet Genomic Med. 2017. PMID: 29178644 Free PMC article.

4

Inborn Errors of Metabolism: From Preconception to Adulthood.

Kruszka P, Regier D. Kruszka P, et al. Among authors: regier d. Am Fam Physician. 2019 Jan 1;99(1):25-32. Am Fam Physician. 2019. PMID: 30600976 Free article. Review.

5

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.

Bosfield K, Regier DS, Viall S, Hicks R, Shur N, Grant CL. Bosfield K, et al. Am J Med Genet A. 2021 Jan;185(1):134-140. doi: 10.1002/ajmg.a.61930. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098355

6

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.

Regier DS, Leon E, Counts DR, Tifft CJ, Zand DJ. Regier DS, et al. Am J Med Genet A. 2015 Aug;167A(8):1944-8. doi: 10.1002/ajmg.a.37090. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900722 No abstract available.

7

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

Regier DS, Kwon HJ, Johnston J, Golas G, Yang S, Wiggs E, Latour Y, Thomas S, Portner C, Adams D, Vezina G, Baker EH, Tifft CJ. Regier DS, et al. Am J Med Genet A. 2016 Mar;170(3):634-44. doi: 10.1002/ajmg.a.37468. Epub 2015 Dec 8. Am J Med Genet A. 2016. PMID: 26646981

8

Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula.

Sabatino JA, Starin D, Tuchman S, Ferreira C, Regier DS. Sabatino JA, et al. Among authors: regier ds. JIMD Rep. 2019 Jun 21;49(1):7-10. doi: 10.1002/jmd2.12056. eCollection 2019 Sep. JIMD Rep. 2019. PMID: 31497475 Free PMC article.

9

Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.

Summerlin ML, Regier DS, Fraser JL, Chapman KA, Kafashzadeh D, Billington C Jr, Kisling M, Grochowsky A, Ah Mew N, Shur N. Summerlin ML, et al. Among authors: regier ds. Am J Med Genet A. 2021 Feb;185(2):500-507. doi: 10.1002/ajmg.a.62000. Epub 2020 Dec 10. Am J Med Genet A. 2021. PMID: 33300687

10

Maple syrup urine disease decompensation misdiagnosed as a psychotic event.

Higashimoto T, Whitehead MT, MacLeod E, Starin D, Regier DS. Higashimoto T, et al. Among authors: regier ds. Mol Genet Metab Rep. 2022 Jun 18;32:100886. doi: 10.1016/j.ymgmr.2022.100886. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35756860 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

348 results

Search Page