Beyond the “Jewish panel”: the importance of offering expanded carrier screening to the Ashkenazi Jewish population
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[1] D. Huster. [Wilson disease]. , 2020, Der Internist.
[2] S. Tsang,et al. Stargardt Disease. , 2020, Advances in experimental medicine and biology.
[3] K. Goddard,et al. The evolving landscape of expanded carrier screening: challenges and opportunities , 2018, Genetics in Medicine.
[4] Kyle A. Beauchamp,et al. Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen , 2018, Genetics in Medicine.
[5] W. H. Pearse,et al. American College of Obstetricians and Gynecologists , 2018, Definitions.
[6] I. Haque,et al. Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates† , 2017, Prenatal diagnosis.
[7] Committee Opinion No. 691: Carrier Screening for Genetic Conditions. , 2017, Obstetrics and gynecology.
[8] A. V. van Kuilenburg,et al. Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? , 2017, JIMD reports.
[9] Ruofan Yao,et al. Genetic Carrier Screening in the Twenty-first Century. , 2016, Clinics in laboratory medicine.
[10] H. Kayserili,et al. Responsible implementation of expanded carrier screening , 2016, European Journal of Human Genetics.
[11] Jason M Franasiak,et al. Expanded carrier screening in an infertile population: how often is clinical decision making affected? , 2016, Genetics in Medicine.
[12] Judy H. Cho,et al. Expanded genetic screening panel for the Ashkenazi Jewish population , 2015, Genetics in Medicine.
[13] T. Bird,et al. PMM2-CDG (CDG-Ia) -- GeneReviews(®) , 2016 .
[14] Susan Sparks,et al. PMM2-CDG (CDG-Ia) , 2015 .
[15] Shivani Nazareth,et al. Changing trends in carrier screening for genetic disease in the United States , 2015, Prenatal diagnosis.
[16] Mary E Norton,et al. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Feta , 2015, Obstetrics and gynecology.
[17] C. Pu,et al. Clinical and pathological features of patients with nemaline myopathy. , 2014, Molecular medicine reports.
[18] M. Birlik,et al. Familial Mediterranean fever: An updated review. , 2014, European journal of rheumatology.
[19] Balaji S. Srinivasan,et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals , 2012, Genetics in Medicine.
[20] M. Nowaczyk,et al. Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology , 2012, American journal of medical genetics. Part C, Seminars in medical genetics.
[21] C. Woods,et al. Congenital disorders of glycosylation. , 2012, Advances in neonatal care : official journal of the National Association of Neonatal Nurses.
[22] R. Finkel,et al. Spinal muscular atrophy , 2011, Nature Reviews Disease Primers.
[23] M. Berndt,et al. Bernard-Soulier syndrome , 1998, Haematologica.
[24] Minjie Luo,et al. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases , 2010, Human mutation.
[25] Matthew J. Nichols,et al. Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. , 2010, Molecular genetics and metabolism.
[26] T. Scholl,et al. Differences in SMN1 allele frequencies among ethnic groups within North America , 2009, Journal of Medical Genetics.
[27] S. Duga,et al. Factor XI Deficiency , 2009, Seminars in thrombosis and hemostasis.
[28] Weimin Sun,et al. Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations , 2008, Genetics in Medicine.
[29] B. Pletcher,et al. Carrier screening in individuals of Ashkenazi Jewish descent , 2008, Genetics in Medicine.
[30] Michael M. Kaback,et al. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model , 2000, European Journal of Pediatrics.
[31] H. Sarnat. New Insights Into the Pathogenesis of Congenital Myopathies , 1994, Journal of child neurology.