Morton DH - Search Results

1

Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.

Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG. Lohr NJ, et al. Among authors: morton dh. Am J Hum Genet. 2010 Mar 12;86(3):447-53. doi: 10.1016/j.ajhg.2010.01.028. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170897 Free PMC article.

2

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.

Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. Kelley RI, et al. Among authors: morton dh. Am J Med Genet. 2002 Nov 1;112(4):318-26. doi: 10.1002/ajmg.10529. Am J Med Genet. 2002. PMID: 12376931

3

Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.

Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG. Sherman EA, et al. Among authors: morton dh. Am J Hum Genet. 2008 Nov;83(5):604-9. doi: 10.1016/j.ajhg.2008.09.018. Am J Hum Genet. 2008. PMID: 18926513 Free PMC article.

4

Type I glutaric aciduria, part 1: natural history of 77 patients.

Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Strauss KA, et al. Among authors: morton dh. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):38-52. doi: 10.1002/ajmg.c.20007. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888985

5

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

Puffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA, Degrazio D, Shaw C, Sougnez C, Cibulskis K, Gabriel S, Kelley RI, Morton DH, Strauss KA. Puffenberger EG, et al. Among authors: morton dh. Hum Mutat. 2012 Dec;33(12):1639-46. doi: 10.1002/humu.22237. Hum Mutat. 2012. PMID: 23065719

6

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN. Carlton VE, et al. Among authors: morton dh. Nat Genet. 2003 May;34(1):91-6. doi: 10.1038/ng1147. Nat Genet. 2003. PMID: 12704386

7

Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.

Morton DH, Morton CS, Strauss KA, Robinson DL, Puffenberger EG, Hendrickson C, Kelley RI. Morton DH, et al. Among authors: morton cs. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):5-17. doi: 10.1002/ajmg.c.20002. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888982

8

Type I glutaric aciduria, part 2: a model of acute striatal necrosis.

Strauss KA, Morton DH. Strauss KA, et al. Among authors: morton dh. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):53-70. doi: 10.1002/ajmg.c.20008. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888986

9

Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.

Strauss KA, Puffenberger EG, Craig DW, Panganiban CB, Lee AM, Hu-Lince D, Stephan DA, Morton DH. Strauss KA, et al. Among authors: morton dh. Am J Med Genet A. 2005 Oct 15;138A(3):262-7. doi: 10.1002/ajmg.a.30961. Am J Med Genet A. 2005. PMID: 16158439

10

Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.

Strauss KA, Morton DH, Puffenberger EG, Hendrickson C, Robinson DL, Wagner C, Stabler SP, Allen RH, Chwatko G, Jakubowski H, Niculescu MD, Mudd SH. Strauss KA, et al. Among authors: morton dh. Mol Genet Metab. 2007 Jun;91(2):165-75. doi: 10.1016/j.ymgme.2007.02.012. Epub 2007 Apr 3. Mol Genet Metab. 2007. PMID: 17409006

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