Reid Sutton V - Search Results

1

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Alaimo JT, Glinton KE, Liu N, Xiao J, Yang Y, Reid Sutton V, Elsea SH. Alaimo JT, et al. Among authors: reid sutton v. Genet Med. 2020 Sep;22(9):1560-1566. doi: 10.1038/s41436-020-0827-0. Epub 2020 May 22. Genet Med. 2020. PMID: 32439973 Free PMC article.

2

Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay.

Kennedy AD, Pappan KL, Donti TR, Evans AM, Wulff JE, Miller LAD, Reid Sutton V, Sun Q, Miller MJ, Elsea SH. Kennedy AD, et al. Among authors: reid sutton v. Mol Genet Metab. 2017 Jun;121(2):83-90. doi: 10.1016/j.ymgme.2017.04.005. Epub 2017 Apr 9. Mol Genet Metab. 2017. PMID: 28412083 Free PMC article.

3

Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.

Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH. Atwal PS, et al. Among authors: reid sutton v. Mol Genet Metab. 2015 Jun-Jul;115(2-3):91-4. doi: 10.1016/j.ymgme.2015.04.008. Epub 2015 May 2. Mol Genet Metab. 2015. PMID: 25956449

4

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.

Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B; Members of the Brittle Bone Disorders Consortium; Rush ET, Nagamani SCS. Tam A, et al. Among authors: reid sutton v. Clin Genet. 2018 Dec;94(6):502-511. doi: 10.1111/cge.13440. Epub 2018 Sep 24. Clin Genet. 2018. PMID: 30152014 Free PMC article.

5

The development and implementation of an in-service exam for medical genetics residency programs.

Robin NH, Reid Sutton V, Caldwell J, Jackson J, Irons M, Demmer L; Members of in-service exam subcommittees. Robin NH, et al. Among authors: reid sutton v. Genet Med. 2012 May;14(5):552-7. doi: 10.1038/gim.2011.41. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22281936 Free article.

6

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.

Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB. Wang X, et al. Among authors: reid sutton v. Nat Genet. 2007 Jul;39(7):836-8. doi: 10.1038/ng2057. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546030

7

A mouse model of argininosuccinic aciduria: biochemical characterization.

Reid Sutton V, Pan Y, Davis EC, Craigen WJ. Reid Sutton V, et al. Mol Genet Metab. 2003 Jan;78(1):11-6. doi: 10.1016/s1096-7192(02)00206-8. Mol Genet Metab. 2003. PMID: 12559843

8

Parkes Weber syndrome occurring in a family with capillary malformations.

Brunetti-Pierri N, Seidel GF, Levy ML, Reid Sutton V. Brunetti-Pierri N, et al. Among authors: reid sutton v. Clin Dysmorphol. 2007 Jul;16(3):167-171. doi: 10.1097/MCD.0b013e3280f6cff2. Clin Dysmorphol. 2007. PMID: 17551330

9

Guidelines for evaluating and managing children born with disorders of sexual development.

Douglas G, Axelrad ME, Brandt ML, Crabtree E, Dietrich JE, French S, Gunn S, Karaviti L, Lopez ME, Macias CG, McCullough LB, Suresh D, Austin E, Reid Sutton V. Douglas G, et al. Among authors: reid sutton v. Pediatr Ann. 2012 Apr;41(4):e1-7. doi: 10.3928/00904481-20120307-09. Pediatr Ann. 2012. PMID: 22494213

10

Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32.

Rosa AL, Wu YQ, Kwabi-Addo B, Coveler KJ, Reid Sutton V, Shaffer LG. Rosa AL, et al. Among authors: reid sutton v. Chromosome Res. 2005;13(8):809-18. doi: 10.1007/s10577-005-1015-4. Epub 2005 Dec 8. Chromosome Res. 2005. PMID: 16331412

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