Starr LJ - Search Results

1

The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.

Sanmann JN, Casas KA, Bevilacqua J, Bishay DL, Clark T, Van Dyke AZ, Leiferman PC, Reddi HV, Starr LJ. Sanmann JN, et al. Among authors: starr lj. Am J Med Genet A. 2016 Sep;170(9):2416-20. doi: 10.1002/ajmg.a.37797. Epub 2016 Jun 23. Am J Med Genet A. 2016. PMID: 27338032 Review.

2

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.

Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG. Sanmann JN, et al. Among authors: starr lj. Am J Med Genet A. 2012 Jun;158A(6):1285-91. doi: 10.1002/ajmg.a.35347. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581587

3

Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.

Starr LJ, Sanmann JN, Olney AH, Wandoloski M, Sanger WG, Coulter DW. Starr LJ, et al. Am J Med Genet A. 2014 Apr;164A(4):1079-82. doi: 10.1002/ajmg.a.36432. Epub 2014 Mar 4. Am J Med Genet A. 2014. PMID: 24596125

4

Searching for electrical properties, phenomena and mechanisms in the construction and function of chromosomes.

Kanev I, Mei WN, Mizuno A, Dehaai K, Sanmann J, Hess M, Starr L, Grove J, Dave B, Sanger W. Kanev I, et al. Comput Struct Biotechnol J. 2013 Jun 27;6:e201303007. doi: 10.5936/csbj.201303007. eCollection 2013. Comput Struct Biotechnol J. 2013. PMID: 24688715 Free PMC article.

5

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.

Starr LJ, Truemper EJ, Pickering DL, Sanger WG, Olney AH. Starr LJ, et al. Am J Med Genet A. 2014 Aug;164A(8):2020-4. doi: 10.1002/ajmg.a.34020. Epub 2014 Jun 20. Am J Med Genet A. 2014. PMID: 24954807 Review.

6

Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray.

Sanmann JN, Pickering DL, Golden DM, Stevens JM, Hempel TE, Althof PA, Wiggins ML, Starr LJ, Davé BJ, Sanger WG. Sanmann JN, et al. Among authors: starr lj. Genet Med. 2015 Nov;17(11):875-9. doi: 10.1038/gim.2014.204. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590977 Free article.

7

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Zarate YA, Bosanko KA, Bhoj E, Ganetzky R, Starr LJ, Zackai EH, Schaefer GB. Zarate YA, et al. Among authors: starr lj. Am J Med Genet A. 2015 Sep;167A(9):2168-75. doi: 10.1002/ajmg.a.37126. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914130 Free PMC article.

8

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

Starr LJ, Grange DK, Delaney JW, Yetman AT, Hammel JM, Sanmann JN, Perry DA, Schaefer GB, Olney AH. Starr LJ, et al. Am J Med Genet A. 2015 Dec;167A(12):2893-901. doi: 10.1002/ajmg.a.37273. Epub 2015 Sep 30. Am J Med Genet A. 2015. PMID: 26420300

9

Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy.

Yetman AT, Hammel J, Sanmann JN, Starr LJ. Yetman AT, et al. Among authors: starr lj. World J Pediatr Congenit Heart Surg. 2019 May;10(3):376-379. doi: 10.1177/2150135117698458. Epub 2017 Jul 4. World J Pediatr Congenit Heart Surg. 2019. PMID: 28673110

10

Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes.

Yetman AT, Starr LJ. Yetman AT, et al. Among authors: starr lj. Am J Med Genet A. 2018 Apr;176(4):1011-1014. doi: 10.1002/ajmg.a.38647. Am J Med Genet A. 2018. PMID: 29575632

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