An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

ACOG Committee Opinion No. 432: Spinal Muscular Atrophy

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No association for Chinese HBV-related hepatocellular carcinoma susceptibility SNP in other East Asian populations

(2012) Hiromi Sawai et al.   BMC Medical Genetics

Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test

(2011) Yves Lacassie et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

(2011) E. M. Rohlfs et al.   CLINICAL CHEMISTRY

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

(2010) Stuart A. Scott et al.   HUMAN MUTATION

A universal carrier test for the long tail of Mendelian disease

(2010) Balaji S. Srinivasan et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Genetic testing of sperm donors: survey of current practices

(2009) Charles A. Sims et al.   FERTILITY AND STERILITY

Views on Personalized Medicine: Do the Attitudes of African American and White Prescription Drug Consumers Differ?

(2009) M. De Marco   Public Health Genomics

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

(2008) Sheila Unger et al.   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Carrier screening in individuals of Ashkenazi Jewish descent

(2008) Susan J Gross et al.   GENETICS IN MEDICINE

Carrier screening for spinal muscular atrophy

(2008) Thomas W Prior   GENETICS IN MEDICINE

The ethics of characterizing difference: guiding principles on using racial categories in human genetics

(2008) Sandra Lee et al.   GENOME BIOLOGY