Schäffer AA - Search Results

1

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: schaffer aa. J Med Genet. 2019 Jul;56(7):444-452. doi: 10.1136/jmedgenet-2018-105836. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842225 Free PMC article.

2

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. Among authors: schaffer aa. 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.

3

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

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

4

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. 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.

5

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: schaffer aa. Hum Mol Genet. 1998 Mar;7(3):475-81. doi: 10.1093/hmg/7.3.475. Hum Mol Genet. 1998. PMID: 9467007

6

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: schaffer aa. Genome Res. 1998 Mar;8(3):211-21. doi: 10.1101/gr.8.3.211. Genome Res. 1998. PMID: 9521925 Free article.

7

Approximation algorithms for a genetic diagnostics problem.

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

8

Genetic linkage of hyper-IgE syndrome to chromosome 4.

Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Español T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM. Grimbacher B, et al. Among authors: schaffer aa. Am J Hum Genet. 1999 Sep;65(3):735-44. doi: 10.1086/302547. Am J Hum Genet. 1999. PMID: 10441580 Free PMC article.

9

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: schaffer aa. 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

10

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. Among authors: schaffer aa. 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.

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