Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr 2000;159(suppl 3):S192–S195.
Lazarin GA, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genet Med 2013;15:178–186.
Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genet Med 2007;9:665–674.
Burke W, Coughlin SS, Lee NC, Weed DL, Khoury MJ. Application of population screening principles to genetic screening for adult-onset conditions. Genet Test 2001;5:201–211.
Rubinstein WS, Jiang H, Dellefave L, Rademaker AW. Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: a call for dialogue. Genet Med 2009;11:629–639.
Wilson JMG, Jungner G. Principles and Practice of Screening for Disease. 1968. http://whqlibdoc.who.int/php/WHO_PHP_34.pdf. Accessed 17 March, 2014.
Zuckerman S, Lahad A, Shmueli A, et al. Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA 2007;298:1281–1290.
Richards S, Aziz N, Bale S, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17:405–424.
Tabor HK, Auer PL, Jamal SM, et al.; NHLBI Exome Sequencing Project. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Am J Hum Genet 2014;95:183–193.
Carmi S, Hui KY, Kochav E, et al. Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins. Nat Commun 2014;5:4835.
National Center for Biotechnology Information. What Is ClinVar? https://www.ncbi.nlm.nih.gov/clinvar/intro/. Accessed 17 March, 2014.
Ostrer H. A genetic profile of contemporary Jewish populations. Nat Rev Genet 2001;2:891–898.
Ostrer H, Skorecki K. The population genetics of the Jewish people. Hum Genet 2013;132:119–127.
Saul RA, Tarleton JC. FMR-1-Related Disorders. 1998. http://www.ncbi.nlm.nih.gov/books/NBK1384/.
Flockhart DA, O’Kane D, Williams MS, et al.; ACMG Working Group on Pharmacogenetic Testing of CYP2C9, VKORC1 Alleles for Warfarin Use. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet Med 2008;10:139–150.
Peretz H, Salomon O, Mor-Cohen R, et al. Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews. J Thromb Haemost 2013;11:724–730.
Tyfield L, Reichardt J, Fridovich-Keil J, et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat 1999;13:417–430.
Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet 2001;69:863–868.
Elpeleg ON, Shaag A, Holme E, et al. Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I. Hum Mutat 2002;19:80–81. Accessed 17 March, 2014.
Prior TW; Professional Practice and Guidelines Committee. Carrier screening for spinal muscular atrophy. Genet Med 2008;10:840–842. Accessed 17 March, 2014.
Wilson RC, Nimkarn S, Dumic M, et al. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab 2007;90:414–421.
Becker JG, Pastores GM, Di Rocco A, Ferraris M, Graber JJ, Sathe S. Parkinson’s disease in patients and obligate carriers of Gaucher disease. Parkinsonism Relat Disord 2013;19:129–131.
Byrnes GB, Southey MC, Hopper JL. Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories? Breast Cancer Res 2008;10:208.
Boyle MP. Nonclassic cystic fibrosis and CFTR-related diseases. Curr Opin Pulm Med 2003;9:498–503.
Jain VV, Yelwatkar S. Unusual presentation of adult Gaucher’s disease: A long and difficult road to diagnosis. Indian J Endocrinol Metab 2011;15:224–226.
Tekin M, Duman T, Boğoçlu G, Incesulu A, Cin S, Akar N. Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene. Genet Couns 2003;14:379–386.
Grosse SD, Khoury MJ. What is the clinical utility of genetic testing? Genet Med 2006;8:448–450.
Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. JAMA 1996;275:548–553.
Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500–1505.
GeneDx. Familial Mediterranean Fever. http://www.genedx.com/test-catalog/disorders/familial-mediterranean-fever/.
Padeh S, Livneh A, Pras E, et al. Familial Mediterranean Fever in the first two years of life: a unique phenotype of disease in evolution. J Pediatr 2010;156:985–989. Accessed 17 March, 2014.
Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985;37:650–667.
Strom CM, Crossley B, Redman JB, et al. Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory. Genet Med 2004;6:145–152.
Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008;26:5783–5788.
Dolgin, E. Jewish genetic screening grows despite questions about breadth. Nat Med 2011;17:639.
Ormond KE, Wheeler MT, Hudgins L, et al. Challenges in the clinical application of whole-genome sequencing. Lancet 2010;375:1749–1751.
Ormond KE, Iris M, Banuvar S, Minogue J, Annas GJ, Elias S. What do patients prefer: informed consent models for genetic carrier testing. J Genet Couns 2007;16:539–550.
Hathaway F, Burns E, Ostrer H. Consumers’ desire towards current and prospective reproductive genetic testing. J Genet Couns 2009;18:137–146.
Andorno R. The right not to know: an autonomy based approach. J Med Ethics 2004;30:435–9.