Schäffer AA - Search Results

1

Faster sequential genetic linkage computations.

Cottingham RW Jr, Idury RM, Schäffer AA. Cottingham RW Jr, et al. Among authors: schaffer aa. Am J Hum Genet. 1993 Jul;53(1):252-63. Am J Hum Genet. 1993. PMID: 8317490 Free PMC article.

2

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: schaffer aa. 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.

3

Coordinated conditional simulation with SLINK and SUP of many markers linked or associated to a trait in large pedigrees.

Schäffer AA, Lemire M, Ott J, Lathrop GM, Weeks DE. Schäffer AA, et al. Hum Hered. 2011;71(2):126-34. doi: 10.1159/000324177. Epub 2011 Jul 6. Hum Hered. 2011. PMID: 21734403 Free PMC article.

4

PSEUDOMARKER: a powerful program for joint linkage and/or linkage disequilibrium analysis on mixtures of singletons and related individuals.

Hiekkalinna T, Schäffer AA, Lambert B, Norrgrann P, Göring HH, Terwilliger JD. Hiekkalinna T, et al. Among authors: schaffer aa. Hum Hered. 2011;71(4):256-66. doi: 10.1159/000329467. Epub 2011 Jul 28. Hum Hered. 2011. PMID: 21811076 Free PMC article.

5

On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case-control samples.

Hiekkalinna T, Göring HH, Lambert B, Weiss KM, Norrgrann P, Schäffer AA, Terwilliger JD. Hiekkalinna T, et al. Among authors: schaffer aa. Eur J Hum Genet. 2012 Feb;20(2):217-23. doi: 10.1038/ejhg.2011.173. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934707 Free PMC article.

6

Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.

Zhu S, Hsu AP, Vacek MM, Zheng L, Schäffer AA, Dale JK, Davis J, Fischer RE, Straus SE, Boruchov D, Saulsbury FT, Lenardo MJ, Puck JM. Zhu S, et al. Among authors: schaffer aa. Hum Genet. 2006 Apr;119(3):284-94. doi: 10.1007/s00439-006-0138-9. Epub 2006 Jan 31. Hum Genet. 2006. PMID: 16446975

7

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.

Schäffer AA, Pfannstiel J, Webster AD, Plebani A, Hammarström L, Grimbacher B. Schäffer AA, et al. Hum Genet. 2006 Feb;118(6):725-9. doi: 10.1007/s00439-005-0101-1. Epub 2005 Nov 22. Hum Genet. 2006. PMID: 16328471 Free PMC article.

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

Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium.

Saito M, Matsumine H, Tanaka H, Ishikawa A, Shimoda-Matsubayashi S, Schäffer AA, Mizuno Y, Tsuji S. Saito M, et al. Among authors: schaffer aa. J Hum Genet. 1998;43(1):22-31. doi: 10.1007/s100380050032. J Hum Genet. 1998. PMID: 9609994

10

Fine mapping of the nail-patella syndrome locus at 9q34.

McIntosh I, Clough MV, Schäffer AA, Puffenberger EG, Horton VK, Peters K, Abbott MH, Roig CM, Cutone S, Ozelius L, Kwiatkowski DJ, Pyeritz RE, Brown LJ, Pauli RM, McCormick MK, Francomano CA. McIntosh I, et al. Among authors: schaffer aa. Am J Hum Genet. 1997 Jan;60(1):133-42. Am J Hum Genet. 1997. PMID: 8981956 Free PMC article.

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