Rosenblatt DS - Search Results

1

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.

Abdrabo LS, Watkins D, Wang SR, Lafond-Lapalme J, Riviere JB, Rosenblatt DS. Abdrabo LS, et al. Among authors: rosenblatt ds. Genet Med. 2022 Jan;24(1):254. doi: 10.1016/j.gim.2021.11.014. Epub 2021 Nov 22. Genet Med. 2022. PMID: 35029148 Free article. No abstract available.

2

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.

Abdrabo LS, Watkins D, Wang SR, Lafond-Lapalme J, Riviere JB, Rosenblatt DS. Abdrabo LS, et al. Among authors: rosenblatt ds. Genet Med. 2020 Feb;22(2):432-436. doi: 10.1038/s41436-019-0640-9. Epub 2019 Aug 29. Genet Med. 2020. PMID: 31462756 Free article.

3

Correction: Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.

Abdrabo LS, Watkins D, Wang SR, Lafond-Lapalme J, Riviere JB, Rosenblatt DS. Abdrabo LS, et al. Among authors: rosenblatt ds. Genet Med. 2020 Jul;22(7):1280. doi: 10.1038/s41436-020-0852-z. Genet Med. 2020. PMID: 32483295 Free article.

4

Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.

Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. Am J Med Genet. 1989 Nov;34(3):427-34. doi: 10.1002/ajmg.1320340320. Am J Med Genet. 1989. PMID: 2688421 Review.

5

Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. Am J Hum Genet. 1986 Sep;39(3):404-8. Am J Hum Genet. 1986. PMID: 3766542 Free PMC article.

6

Inborn errors of cobalamin absorption and metabolism.

Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):33-44. doi: 10.1002/ajmg.c.30288. Epub 2011 Feb 10. Am J Med Genet C Semin Med Genet. 2011. PMID: 21312325

7

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Lebo MS, et al. Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726806 Free article.

8

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. J Med Genet. 2011 Sep;48(9):590-2. doi: 10.1136/jmedgenet-2011-100286. Epub 2011 Aug 3. J Med Genet. 2011. PMID: 21813566

9

Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.

Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. Biochimie. 2016 Jul;126:3-5. doi: 10.1016/j.biochi.2016.05.001. Epub 2016 May 6. Biochimie. 2016. PMID: 27163846

10

Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism.

Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. Curr Opin Clin Nutr Metab Care. 2020 Jul;23(4):241-246. doi: 10.1097/MCO.0000000000000668. Curr Opin Clin Nutr Metab Care. 2020. PMID: 32412981 Review.

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