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International Journal of Molecular Sciences
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July 12, 2025
Establishing Best Practices for Clinical GWAS: Tackling Imputation and Data Quality Challenges
Giorgio Casaburi, Ron McCullough, Valeria D'Argenio
Prenatal Diagnosis
|
November 5, 2020
Impact of mosaicism ratio on positive predictive value of cfDNA screening
Jill M Rafalko, Samantha Caldwell, John Tynan, et al.
Prenatal Diagnosis
|
July 18, 2020
Cell-free DNA screening in twin pregnancies: A more accurate and reliable screening tool
Jason Chibuk, Jill Rafalko, Theresa Boomer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 16, 2017
Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases
Mathias Ehrich, John Tynan, Amin Mazloom, et al.
American Journal of Medical Genetics. Part A
|
August 17, 2020
Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant NIPT results
Samantha Caldwell, Katelynn Sagaser, Zoe Nelson, et al.
Plos One
|
March 12, 2021
Application of mosaicism ratio to multifetal gestations
Jill Rafalko, Samantha Caldwell, Erica Soster, et al.
Clinical Chemistry
|
February 25, 2015
Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma
Chen Zhao, John Tynan, Mathias Ehrich, et al.
The Journal of Molecular Diagnostics : JMD
|
July 10, 2010
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model
Daniel H Farkas, Nicholas E Miltgen, Jay Stoerker, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 17, 2010
Intron retention facilitates splice variant diversity in calcium-activated big potassium channel populations
Thomas J Bell, Kevin Y Miyashiro, Jai-Yoon Sul, et al.
Prenatal Diagnosis
|
April 18, 2013
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
Amin R Mazloom, Željko Džakula, Paul Oeth, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
International Journal of Molecular Sciences
|
July 12, 2025
Establishing Best Practices for Clinical GWAS: Tackling Imputation and Data Quality Challenges
Giorgio Casaburi, Ron McCullough, Valeria D'Argenio
Prenatal Diagnosis
|
November 5, 2020
Impact of mosaicism ratio on positive predictive value of cfDNA screening
Jill M Rafalko, Samantha Caldwell, John Tynan, et al.
Prenatal Diagnosis
|
July 18, 2020
Cell-free DNA screening in twin pregnancies: A more accurate and reliable screening tool
Jason Chibuk, Jill Rafalko, Theresa Boomer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 16, 2017
Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases
Mathias Ehrich, John Tynan, Amin Mazloom, et al.
American Journal of Medical Genetics. Part A
|
August 17, 2020
Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant NIPT results
Samantha Caldwell, Katelynn Sagaser, Zoe Nelson, et al.
Plos One
|
March 12, 2021
Application of mosaicism ratio to multifetal gestations
Jill Rafalko, Samantha Caldwell, Erica Soster, et al.
Clinical Chemistry
|
February 25, 2015
Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma
Chen Zhao, John Tynan, Mathias Ehrich, et al.
The Journal of Molecular Diagnostics : JMD
|
July 10, 2010
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model
Daniel H Farkas, Nicholas E Miltgen, Jay Stoerker, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 17, 2010
Intron retention facilitates splice variant diversity in calcium-activated big potassium channel populations
Thomas J Bell, Kevin Y Miyashiro, Jai-Yoon Sul, et al.
Prenatal Diagnosis
|
April 18, 2013
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
Amin R Mazloom, Željko Džakula, Paul Oeth, et al.
Page
of 2