Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

[1] Sweetman L(2001)Newborn screening by tandem mass spectrometry: gaining experience Clin Chem 47 1937-8

[2] Kaback MM(2000)Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model Eur J Pediatr 159 S192-5

[3] Kronn D(1998)Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY Arch Intern Med 158 777-81

[4] Jansen V(2010)Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases Hum Mutat 31 1240-50

[5] Ostrer H(2014)Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze Am J Obstet Gynecol 211 197-204

[6] Scott SA(2007)Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database Hum Mutat 28 944-9

[7] Edelmann L(2013)ACMG position statement on prenatal/preconception expanded carrier screening Genet Med 15 482-3

[8] Liu L(2003)Human Gene Mutation Database (HGMD): 2003 update Hum Mutat 21 577-81

[9] Luo M(2010)The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res 20 1297-303

[10] Desnick RJ(2006)Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T > C (L444P) BMC Med Genet 7 69-198

[1] Sweetman L(2001)Newborn screening by tandem mass spectrometry: gaining experience Clin Chem 47 1937-8

[2] Kaback MM(2000)Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model Eur J Pediatr 159 S192-5

[3] Kronn D(1998)Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY Arch Intern Med 158 777-81

[4] Jansen V(2010)Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases Hum Mutat 31 1240-50

[5] Ostrer H(2014)Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze Am J Obstet Gynecol 211 197-204

[6] Scott SA(2007)Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database Hum Mutat 28 944-9

[7] Edelmann L(2013)ACMG position statement on prenatal/preconception expanded carrier screening Genet Med 15 482-3

[8] Liu L(2003)Human Gene Mutation Database (HGMD): 2003 update Hum Mutat 21 577-81

[9] Luo M(2010)The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res 20 1297-303

[10] Desnick RJ(2006)Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T > C (L444P) BMC Med Genet 7 69-198