Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

[1]  A. Breman,et al.  Positive predictive value estimates for cell‐free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory , 2017, American journal of obstetrics and gynecology.

[2]  Ash A. Alizadeh,et al.  Integrated digital error suppression for improved detection of circulating tumor DNA , 2016, Nature Biotechnology.

[3]  V. Plagnol,et al.  Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities. , 2016, American journal of human genetics.

[4]  Y. Lo,et al.  Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA. , 2015, Cold Spring Harbor perspectives in medicine.

[5]  R. Farrell,et al.  A first look at women's perspectives on noninvasive prenatal testing to detect sex chromosome aneuploidies and microdeletion syndromes , 2015, Prenatal diagnosis.

[6]  A. Barrett,et al.  Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach , 2015, Prenatal diagnosis.

[7]  T. Musci,et al.  Cell-free DNA analysis for noninvasive examination of trisomy. , 2015, The New England journal of medicine.

[8]  Bale,et al.  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 , 2015, Genetics in Medicine.

[9]  C. Quince,et al.  Insight into biases and sequencing errors for amplicon sequencing with the Illumina MiSeq platform , 2015, Nucleic acids research.

[10]  Magalie S Leduc,et al.  Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.

[11]  Matthew Rabinowitz,et al.  Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. , 2014, American journal of obstetrics and gynecology.

[12]  Amin R. Mazloom,et al.  Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples , 2014, PloS one.

[13]  X. Yi,et al.  Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease , 2014, Genetics in Medicine.

[14]  T. Kubiak,et al.  Direct Quantification of Cell-Free, Circulating DNA from Unpurified Plasma , 2014, PloS one.

[15]  Magalie S Leduc,et al.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders. , 2013, The New England journal of medicine.

[16]  M. Rabinowitz,et al.  SNP‐based non‐invasive prenatal testing detects sex chromosome aneuploidies with high accuracy , 2013, Prenatal diagnosis.

[17]  A. Barrett,et al.  The clinical implementation of non‐invasive prenatal diagnosis for single‐gene disorders: challenges and progress made , 2013, Prenatal diagnosis.

[18]  T. Dallman,et al.  Performance comparison of benchtop high-throughput sequencing platforms , 2012, Nature Biotechnology.

[19]  A. Wilkie,et al.  Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. , 2012, American journal of human genetics.

[20]  D. Rimoin,et al.  Guidelines for the prenatal diagnosis of fetal skeletal dysplasias , 2009, Genetics in Medicine.

[21]  C. Cantor,et al.  Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma , 2008, Proceedings of the National Academy of Sciences.

[22]  H. C. Fan,et al.  Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood , 2008, Proceedings of the National Academy of Sciences.

[23]  H. Toriello,et al.  Statement on guidance for genetic counseling in advanced paternal age , 2008, Genetics in Medicine.

[24]  Z. Vajo,et al.  The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. , 2000, Endocrine reviews.

[25]  L. Chitty,et al.  Prenatal features of Noonan syndrome , 1999, Prenatal diagnosis.

[26]  S. Loader,et al.  Prenatal screening for cystic fibrosis carriers: an economic evaluation. , 1998, American journal of human genetics.

[27]  T K Lau,et al.  Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. , 1998, American journal of human genetics.

[28]  I. Sargent,et al.  Presence of fetal DNA in maternal plasma and serum , 1997, The Lancet.

[29]  H B Newcombe,et al.  Genetic disorders in children and young adults: a population study. , 1988, American journal of human genetics.

[30]  Friedman Jm Genetic disease in the offspring of older fathers. , 1981 .

[31]  C. Caskey,et al.  An economic evaluation of a genetic screening program for Tay-Sachs disease. , 1978, American journal of human genetics.

[32]  David I. K. Martin,et al.  Identification and correction of systematic error in high-throughput sequence data , 2011, BMC Bioinform..

[33]  J. Allanson Noonan syndrome , 2007, American journal of medical genetics. Part C, Seminars in medical genetics.