Diaz GA - Search Results

1

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L. Zhang J, et al. Among authors: diaz ga. PLoS Genet. 2016 Apr 27;12(4):e1005848. doi: 10.1371/journal.pgen.1005848. eCollection 2016 Apr. PLoS Genet. 2016. PMID: 27120463 Free PMC article.

2

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Edelmann L, et al. Among authors: diaz ga. Am J Hum Genet. 2001 Oct;69(4):863-8. doi: 10.1086/323677. Epub 2001 Aug 16. Am J Hum Genet. 2001. PMID: 11509994 Free PMC article.

3

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.

Profitlich LE, Kirmse B, Wasserstein MP, Diaz GA, Srivastava S. Profitlich LE, et al. Among authors: diaz ga. Mol Genet Metab. 2009 Dec;98(4):344-8. doi: 10.1016/j.ymgme.2009.07.017. Epub 2009 Aug 12. Mol Genet Metab. 2009. PMID: 19767224

4

Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report.

Profitlich L, Kirmse B, Wasserstein MP, Diaz G, Srivastava S. Profitlich L, et al. Cases J. 2009 Jul 30;2:8603. doi: 10.4076/1757-1626-2-8603. Cases J. 2009. PMID: 19830091 Free PMC article.

5

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA. Weisfeld-Adams JD, et al. Among authors: diaz ga. Mol Genet Metab. 2010 Feb;99(2):116-23. doi: 10.1016/j.ymgme.2009.09.008. Epub 2009 Sep 27. Mol Genet Metab. 2010. PMID: 19836982 Free PMC article.

6

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L. Webb BD, et al. Among authors: diaz ga. Clin Genet. 2014 Aug;86(2):155-60. doi: 10.1111/cge.12247. Epub 2013 Sep 2. Clin Genet. 2014. PMID: 23927549

7

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, Frempong T, Schrager NL, Patel K, Naidich TP, Stein V, Spat J, Towns S, Wasserstein MP, Peter I, Frank Y, Diaz GA. Weisfeld-Adams JD, et al. Among authors: diaz ga. Mol Genet Metab. 2013 Nov;110(3):241-7. doi: 10.1016/j.ymgme.2013.07.018. Epub 2013 Jul 25. Mol Genet Metab. 2013. PMID: 23954310

8

Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: a longitudinal cohort study.

Sanderson SC, Linderman MD, Kasarskis A, Bashir A, Diaz GA, Mahajan MC, Shah H, Wasserstein M, Zinberg RE, Zweig M, Schadt EE. Sanderson SC, et al. Among authors: diaz ga. Genome Med. 2013 Dec 30;5(12):113. doi: 10.1186/gm518. eCollection 2013. Genome Med. 2013. PMID: 24373383 Free PMC article.

9

Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.

Sanderson SC, Linderman MD, Suckiel SA, Diaz GA, Zinberg RE, Ferryman K, Wasserstein M, Kasarskis A, Schadt EE. Sanderson SC, et al. Among authors: diaz ga. Eur J Hum Genet. 2016 Jan;24(1):14-20. doi: 10.1038/ejhg.2015.118. Epub 2015 Jun 3. Eur J Hum Genet. 2016. PMID: 26036856 Free PMC article.

10

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.

Wasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL, Culm-Merdek K, Shamiyeh E, Inguilizian H, Cox GF, Puga AC. Wasserstein MP, et al. Among authors: diaz ga. Mol Genet Metab. 2015 Sep-Oct;116(1-2):88-97. doi: 10.1016/j.ymgme.2015.05.013. Epub 2015 May 30. Mol Genet Metab. 2015. PMID: 26049896 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

223 results

Search Page