Hecht JT - Search Results

1

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT. Gonzaga-Jauregui C, et al. Among authors: hecht jt. Eur J Hum Genet. 2015 Mar;23(3):342-6. doi: 10.1038/ejhg.2014.107. Epub 2014 Jul 2. Eur J Hum Genet. 2015. PMID: 24986830 Free PMC article.

2

Pseudoachondroplasia and painful sequelae.

Gamble C, Nguyen J, Hashmi SS, Hecht JT. Gamble C, et al. Among authors: hecht jt. Am J Med Genet A. 2015 Nov;167A(11):2618-22. doi: 10.1002/ajmg.a.37253. Epub 2015 Jul 14. Am J Med Genet A. 2015. PMID: 26177939

3

Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.

Chiquet BT, Hashmi SS, Henry R, Burt A, Mulliken JB, Stal S, Bray M, Blanton SH, Hecht JT. Chiquet BT, et al. Among authors: hecht jt. Eur J Hum Genet. 2009 Feb;17(2):195-204. doi: 10.1038/ejhg.2008.149. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716610 Free PMC article.

4

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. McMillin MJ, et al. Among authors: hecht jt. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 Free PMC article.

5

Multicenter study of mortality in achondroplasia.

Hashmi SS, Gamble C, Hoover-Fong J, Alade AY, Pauli RM, Modaff P, Carney M, Brown C, Bober MB, Hecht JT. Hashmi SS, et al. Among authors: hecht jt. Am J Med Genet A. 2018 Nov;176(11):2359-2364. doi: 10.1002/ajmg.a.40528. Epub 2018 Oct 1. Am J Med Genet A. 2018. PMID: 30276962

6

Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes.

Chiquet BT, Yuan Q, Swindell EC, Maili L, Plant R, Dyke J, Boyer R, Teichgraeber JF, Greives MR, Mulliken JB, Letra A, Blanton SH, Hecht JT. Chiquet BT, et al. Among authors: hecht jt. Eur J Hum Genet. 2018 Oct;26(10):1441-1450. doi: 10.1038/s41431-018-0192-5. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899370 Free PMC article.

7

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Wakui K, et al. Among authors: hecht jt. Eur J Hum Genet. 2005 May;13(5):528-40. doi: 10.1038/sj.ejhg.5201366. Eur J Hum Genet. 2005. PMID: 15852040

8

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.

Mukhopadhyay N, Bishop M, Mortillo M, Chopra P, Hetmanski JB, Taub MA, Moreno LM, Valencia-Ramirez LC, Restrepo C, Wehby GL, Hecht JT, Deleyiannis F, Butali A, Weinberg SM, Beaty TH, Murray JC, Leslie EJ, Feingold E, Marazita ML. Mukhopadhyay N, et al. Among authors: hecht jt. Hum Genet. 2020 Feb;139(2):215-226. doi: 10.1007/s00439-019-02099-1. Epub 2019 Dec 17. Hum Genet. 2020. PMID: 31848685 Free PMC article.

9

Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.

Yu Y, Alvarado R, Petty LE, Bohlender RJ, Shaw DM, Below JE, Bejar N, Ruiz OE, Tandon B, Eisenhoffer GT, Kiss DL, Huff CD, Letra A, Hecht JT. Yu Y, et al. Among authors: hecht jt. Hum Mol Genet. 2022 Jul 21;31(14):2348-2357. doi: 10.1093/hmg/ddac037. Hum Mol Genet. 2022. PMID: 35147171 Free PMC article.

10

Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate.

Morris VE, Hashmi SS, Zhu L, Maili L, Urbina C, Blackwell S, Greives MR, Buchanan EP, Mulliken JB, Blanton SH, Zheng WJ, Hecht JT, Letra A. Morris VE, et al. Among authors: hecht jt. Hum Genet. 2020 Oct;139(10):1261-1272. doi: 10.1007/s00439-020-02169-9. Epub 2020 Apr 21. Hum Genet. 2020. PMID: 32318854 Free PMC article.

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