Compton JG - Search Results

1

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. Kaminsky EB, et al. Among authors: compton jg. Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9. Genet Med. 2011. PMID: 21844811 Free PMC article.

2

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

Aradhya S, Lewis R, Bonaga T, Nwokekeh N, Stafford A, Boggs B, Hruska K, Smaoui N, Compton JG, Richard G, Suchy S. Aradhya S, et al. Among authors: compton jg. Genet Med. 2012 Jun;14(6):594-603. doi: 10.1038/gim.2011.65. Epub 2012 Mar 1. Genet Med. 2012. PMID: 22382802 Free article.

3

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ. Richard G, et al. Among authors: compton jg. Hum Genet. 1998 Oct;103(4):393-9. doi: 10.1007/s004390050839. Hum Genet. 1998. PMID: 9856479

4

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.

Richard G, De Laurenzi V, Didona B, Bale SJ, Compton JG. Richard G, et al. Among authors: compton jg. Nat Genet. 1995 Dec;11(4):453-5. doi: 10.1038/ng1295-453. Nat Genet. 1995. PMID: 7493031

5

Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysis.

Tefferi A, Sirhan S, Sun Y, Lasho T, Finke CM, Weisberger J, Bale S, Compton J, LeDuc CA, Pardanani A, Thorland EC, Shevchenko Y, Grodman M, Chung WK. Tefferi A, et al. Leuk Res. 2009 May;33(5):662-4. doi: 10.1016/j.leukres.2008.09.009. Epub 2008 Oct 19. Leuk Res. 2009. PMID: 18937974

6

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.

Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Richard G, et al. Among authors: compton jg. Nat Genet. 1998 Dec;20(4):366-9. doi: 10.1038/3840. Nat Genet. 1998. PMID: 9843209

7

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC. de Lima RL, et al. Genet Med. 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. Genet Med. 2009. PMID: 19282774 Free PMC article.

8

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC. Leslie EJ, et al. Genet Med. 2013 May;15(5):338-44. doi: 10.1038/gim.2012.141. Epub 2012 Nov 15. Genet Med. 2013. PMID: 23154523 Free PMC article.

9

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Anikster Y, et al. Among authors: compton jg. Nat Genet. 2001 Aug;28(4):376-80. doi: 10.1038/ng576. Nat Genet. 2001. PMID: 11455388

10

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH. Smith FJ, et al. Among authors: compton jg. Nat Genet. 2006 Mar;38(3):337-42. doi: 10.1038/ng1743. Epub 2006 Jan 29. Nat Genet. 2006. PMID: 16444271

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

56 results

Search Page