Biesecker LG - Search Results

1

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network; Zenker M, Lee B, Biesecker LG. Johnston JJ, et al. Among authors: biesecker lg. Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22. Genet Med. 2018. PMID: 29469822 Free PMC article.

2

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J. Kline AD, et al. Among authors: biesecker lg. Am J Hum Genet. 1993 May;52(5):895-906. Am J Hum Genet. 1993. PMID: 8488839 Free PMC article. Review.

3

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

Biesecker LG, Kang S, Schäffer AA, Abbott M, Kelley RI, Allen JC, Clericuzio C, Grebe T, Olney A, Graham JM Jr. Biesecker LG, et al. J Med Genet. 1996 Nov;33(11):947-51. doi: 10.1136/jmg.33.11.947. J Med Genet. 1996. PMID: 8950676 Free PMC article.

4

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.

Kang S, Graham JM Jr, Olney AH, Biesecker LG. Kang S, et al. Among authors: biesecker lg. Nat Genet. 1997 Mar;15(3):266-8. doi: 10.1038/ng0397-266. Nat Genet. 1997. PMID: 9054938

5

Automated selection of short tandem repeat polymorphism markers for whole genome screening for segmental aneusomy.

Biesecker LG, Schäffer AA. Biesecker LG, et al. Hum Hered. 1997 Mar-Apr;47(2):76-85. doi: 10.1159/000154395. Hum Hered. 1997. PMID: 9097089

6

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

Kang S, Allen J, Graham JM Jr, Grebe T, Clericuzio C, Patronas N, Ondrey F, Green E, Schäffer A, Abbott M, Biesecker LG. Kang S, et al. Among authors: biesecker lg. J Med Genet. 1997 Jun;34(6):441-6. doi: 10.1136/jmg.34.6.441. J Med Genet. 1997. PMID: 9192261 Free PMC article.

7

Genetic and physical mapping of the McKusick-Kaufman syndrome.

Stone DL, Agarwala R, Schäffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG. Stone DL, et al. Among authors: biesecker lg. Hum Mol Genet. 1998 Mar;7(3):475-81. doi: 10.1093/hmg/7.3.475. Hum Mol Genet. 1998. PMID: 9467007

8

Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County.

Agarwala R, Biesecker LG, Hopkins KA, Francomano CA, Schaffer AA. Agarwala R, et al. Among authors: biesecker lg. Genome Res. 1998 Mar;8(3):211-21. doi: 10.1101/gr.8.3.211. Genome Res. 1998. PMID: 9521925 Free article.

9

Approximation algorithms for a genetic diagnostics problem.

Kosaraju SR, Schäffer AA, Biesecker LG. Kosaraju SR, et al. Among authors: biesecker lg. J Comput Biol. 1998 Spring;5(1):9-26. doi: 10.1089/cmb.1998.5.9. J Comput Biol. 1998. PMID: 9541868

10

Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources.

Agarwala R, Biesecker LG, Tomlin JF, Schäffer AA. Agarwala R, et al. Among authors: biesecker lg. Am J Med Genet. 1999 Sep 10;86(2):156-61. doi: 10.1002/(sici)1096-8628(19990910)86:2<156::aid-ajmg13>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10449652

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