Johnston JJ - Search Results

1

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Hart MR, et al. Among authors: johnston jj. Genet Med. 2019 May;21(5):1100-1110. doi: 10.1038/s41436-018-0308-x. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287922 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

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.

7

Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.

Jiang YH, Fang P, Adesina AM, Furman P, Johnston JJ, Biesecker LG, Brown CW. Jiang YH, et al. Among authors: johnston jj. Am J Med Genet A. 2009 Jun;149A(6):1249-52. doi: 10.1002/ajmg.a.32863. Am J Med Genet A. 2009. PMID: 19449433 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

203 results

Search Page

Filters