Rosenblatt DS - Search Results

1

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. Alfares A, et al. Among authors: rosenblatt ds. J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23. J Med Genet. 2011. PMID: 21785126

2

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

3

Exome and whole-genome sequencing for gene discovery: the future is now!

Majewski J, Rosenblatt DS. Majewski J, et al. Among authors: rosenblatt ds. Hum Mutat. 2012 Apr;33(4):591-2. doi: 10.1002/humu.22055. Hum Mutat. 2012. PMID: 22411407 No abstract available.

4

ARHGDIA: a novel gene implicated in nephrotic syndrome.

Gupta IR, Baldwin C, Auguste D, Ha KC, El Andalousi J, Fahiminiya S, Bitzan M, Bernard C, Akbari MR, Narod SA, Rosenblatt DS, Majewski J, Takano T. Gupta IR, et al. Among authors: rosenblatt ds. J Med Genet. 2013 May;50(5):330-8. doi: 10.1136/jmedgenet-2012-101442. Epub 2013 Feb 22. J Med Genet. 2013. PMID: 23434736 Free PMC article.

5

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Anastasio N, et al. Among authors: rosenblatt ds. Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.

6

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Kim JC, Lee NC, Hwu PW, Chien YH, Fahiminiya S, Majewski J, Watkins D, Rosenblatt DS. Kim JC, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2012 Dec;107(4):664-8. doi: 10.1016/j.ymgme.2012.10.005. Epub 2012 Oct 16. Mol Genet Metab. 2012. PMID: 23141461

7

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.

Prasad C, Melançon SB, Rupar CA, Prasad AN, Nunez LD, Rosenblatt DS, Majewski J. Prasad C, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2013 Mar;108(3):190-4. doi: 10.1016/j.ymgme.2012.12.007. Epub 2012 Dec 31. Mol Genet Metab. 2013. PMID: 23375728

8

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.

Mah W, Sonkusare SK, Wang T, Azeddine B, Pupavac M, Carrot-Zhang J, Hong K, Majewski J, Harvey EJ, Russell L, Chalk C, Rosenblatt DS, Nelson MT, Séguin C. Mah W, et al. Among authors: rosenblatt ds. J Med Genet. 2016 Oct;53(10):705-9. doi: 10.1136/jmedgenet-2016-103829. Epub 2016 Jun 21. J Med Genet. 2016. PMID: 27330106 Free PMC article.

9

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.

Loewy AD, Niles KM, Anastasio N, Watkins D, Lavoie J, Lerner-Ellis JP, Pastinen T, Trasler JM, Rosenblatt DS. Loewy AD, et al. Among authors: rosenblatt ds. Mol Genet Metab. 2009 Apr;96(4):261-7. doi: 10.1016/j.ymgme.2008.12.011. Epub 2009 Feb 5. Mol Genet Metab. 2009. PMID: 19200761

10

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B. Lerner-Ellis JP, et al. Among authors: rosenblatt ds. Hum Mutat. 2009 Jul;30(7):1072-81. doi: 10.1002/humu.21001. Hum Mutat. 2009. PMID: 19370762

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