Johnston JJ - Search Results

1

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Kim J, Luo W, Wang M, Wegman-Ostrosky T, Frone MN, Johnston JJ, Nickerson ML, Rotunno M, Li SA, Achatz MI, Brodie SA, Dean M, de Andrade KC, Fortes FP, Gianferante M, Khincha P, McMaster ML, McReynolds LJ, Pemov A, Pinheiro M, Santiago KM, Alter BP, Caporaso NE, Gadalla SM, Goldin LR, Greene MH, Loud J, Yang XR, Freedman ND, Gapstur SM, Gaudet MM, Calista D, Ghiorzo P, Fargnoli MC, Nagore E, Peris K, Puig S, Landi MT, Hicks B, Zhu B, Liu J, Sampson JN, Chanock SJ, Mirabello LJ, Morton LM, Biesecker LG, Tucker MA, Savage SA, Goldstein AM, Stewart DR. Kim J, et al. Among authors: johnston jj. Genome Med. 2018 Dec 24;10(1):99. doi: 10.1186/s13073-018-0607-5. Genome Med. 2018. PMID: 30583724 Free PMC article.

2

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. Johnston JJ, et al. Am J Hum Genet. 2000 Oct;67(4):814-21. doi: 10.1086/303089. Epub 2000 Aug 21. Am J Hum Genet. 2000. PMID: 10952871 Free PMC article.

3

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. Johnston JJ, et al. Am J Med Genet A. 2003 Dec 15;123A(3):236-42. doi: 10.1002/ajmg.a.20318. Am J Med Genet A. 2003. PMID: 14608643

4

Gonadal mosaicism in severe Pallister-Hall syndrome.

Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG. Ng D, et al. Among authors: johnston jj. Am J Med Genet A. 2004 Jan 30;124A(3):296-302. doi: 10.1002/ajmg.a.20338. Am J Med Genet A. 2004. PMID: 14708104

5

Syndromic and non-syndromic GLI3 phenotypes.

Biesecker LG, Johnston J. Biesecker LG, et al. Clin Genet. 2005 Sep;68(3):284; author reply 285. doi: 10.1111/j.1399-0004.2005.0485a.x. Clin Genet. 2005. PMID: 16098019 No abstract available.

6

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC. Hilton EN, et al. Among authors: johnston jj. Hum Mol Genet. 2007 Jul 15;16(14):1773-82. doi: 10.1093/hmg/ddm125. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17517692

7

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

Ulucan H, Gül D, Sapp JC, Cockerham J, Johnston JJ, Biesecker LG. Ulucan H, et al. Among authors: johnston jj. BMC Med Genet. 2008 Oct 23;9:92. doi: 10.1186/1471-2350-9-92. BMC Med Genet. 2008. PMID: 18947413 Free PMC article.

8

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

Bardakjian TM, Schneider AS, Ng D, Johnston JJ, Biesecker LG. Bardakjian TM, et al. Among authors: johnston jj. BMC Med Genet. 2009 Dec 16;10:137. doi: 10.1186/1471-2350-10-137. BMC Med Genet. 2009. PMID: 20003547 Free PMC article.

9

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK; NIH Intramural Sequencing Center (NISC); Chong K, Mullikin JC, Biesecker LG. Johnston JJ, et al. Am J Hum Genet. 2010 May 14;86(5):743-8. doi: 10.1016/j.ajhg.2010.04.007. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451169 Free PMC article.

10

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.

Sapp JC, Nishimura D, Johnston JJ, Stone EM, Héon E, Sheffield VC, Biesecker LG. Sapp JC, et al. Among authors: johnston jj. Genet Med. 2010 Oct;12(10):623-7. doi: 10.1097/GIM.0b013e3181f07572. Genet Med. 2010. PMID: 20949666 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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

202 results

Search Page

Filters