Author:
Schrodi Steven J.,DeBarber Andrea,He Max,Ye Zhan,Peissig Peggy,Van Wormer Jeffrey J.,Haws Robert,Brilliant Murray H.,Steiner Robert D.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference42 articles.
1. Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD (2001) Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith–Lemli–Opitz syndrome. Mol Genet Metab 72(1):67–71
2. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey. J Med Genet 36:437–446
3. Browning SR, Thompson EA (2012) Detecting rare variant associations by identity-by-descent mapping in case–control studies. Genetics 190:1521–1531
4. Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet 91:608–620
5. Cooper DN, Krawczak M, Polychronakis C, Tyler-Smith C, Kehrer-Sawatzki H (2013) Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet 132:1077–1130
Cited by
33 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献