David S. Rosenblatt - Search Results

Year	Number of Results
2002	4
2003	6
2004	2
2005	5
2006	7
2007	4
2008	4
2009	7
2010	4
2011	12
2012	10
2013	12
2014	10
2015	4
2016	9
2017	5
2018	4
2019	2
2020	5
2021	5
2022	11
2023	2
2024	2

1

The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.

Demaret T, Bédard K, Soucy JF, Watkins D, Allard P, Levtova A, O'Brien A, Brunel-Guitton C, Rosenblatt DS, Mitchell GA. Demaret T, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2024 Feb 10;142(1):108345. doi: 10.1016/j.ymgme.2024.108345. Online ahead of print. Mol Genet Metab. 2024. PMID: 38387306

2

Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation.

Bauer WG, Watkins D, Zacharias C, Gilfix BM, Rosenblatt DS. Bauer WG, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2024 Jan;141(1):108111. doi: 10.1016/j.ymgme.2023.108111. Epub 2023 Dec 12. Mol Genet Metab. 2024. PMID: 38103461

3

Perspective on the future of genetic counseling assistants - Should it be a steppingstone or a stand-alone career?

Melvill K, Fitzpatrick J, Rosenblatt DS. Melvill K, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2023 Jan;138(1):107370. doi: 10.1016/j.ymgme.2022.107370. Epub 2022 Dec 28. Mol Genet Metab. 2023. PMID: 36603531 No abstract available.

4

Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?

de Carvalho Nunes G, Grenier K, Maedler Kron C, Kitzler T, Helou JE, Rosenblatt DS, Olivier F. de Carvalho Nunes G, et al. Among authors: rosenblatt ds. Neuromuscul Disord. 2022 Jun;32(6):512-515. doi: 10.1016/j.nmd.2022.04.010. Epub 2022 May 2. Neuromuscul Disord. 2022. PMID: 35584999

5

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B₁₂.

Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL. Oussalah A, et al. Among authors: rosenblatt ds. Clin Epigenetics. 2022 Apr 19;14(1):52. doi: 10.1186/s13148-022-01271-1. Clin Epigenetics. 2022. PMID: 35440018 Free PMC article.

6

Inherited defects of cobalamin metabolism.

Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. Vitam Horm. 2022;119:355-376. doi: 10.1016/bs.vh.2022.01.010. Epub 2022 Feb 21. Vitam Horm. 2022. PMID: 35337626

7

Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis.

El Helou J, Perry TB, Anastasio N, Holbrook KA, Rosenblatt DS. El Helou J, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2022 Apr;135(4):309-310. doi: 10.1016/j.ymgme.2022.02.004. Epub 2022 Feb 18. Mol Genet Metab. 2022. PMID: 35216886 No abstract available.

8

Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.

Guéant JL, Siblini Y, Chéry C, Schmitt G, Guéant-Rodriguez RM, Coelho D, Watkins D, Rosenblatt DS, Oussalah A. Guéant JL, et al. Among authors: rosenblatt ds. Hum Genet. 2022 Jul;141(7):1309-1325. doi: 10.1007/s00439-021-02414-9. Epub 2022 Feb 21. Hum Genet. 2022. PMID: 35190856 Review.

9

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.

Pangilinan F, Watkins D, Bernard D, Chen Y, Dong N, Wu Q, Ozel-Abaan H, Kaur M, Caggana M, Morrissey M, Browne ML, Mills JL, Van Ryzin C, Shchelochkov O, Sloan J, Venditti CP, Sarafoglou K, Rosenblatt DS, Kay DM, Brody LC. Pangilinan F, et al. Among authors: rosenblatt ds. Am J Med Genet A. 2022 Apr;188(4):1124-1141. doi: 10.1002/ajmg.a.62627. Epub 2022 Feb 2. Am J Med Genet A. 2022. PMID: 35107211 Free PMC article.

10

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.

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