Last Updated: 09/26/2026
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Found 99 publications
Ultrasound and SNP-based cell-free DNA zygosity testing in twin pregnancies.
Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Published: January 19, 2026
Whole-genome paternal uniparental disomy identified through prenatal single-nucleotide polymorphism-based cell-free DNA screening.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: May 22, 2025
Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants.
Journal: Journal of genetic counseling
Published: November 12, 2024
Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 24, 2024
Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing.
Journal: European journal of human genetics : EJHG
Published: April 11, 2024
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Journal: Circulation. Genomic and precision medicine
Published: March 20, 2024
Single gene non-invasive prenatal testing when the father is not available for testing; concerns regarding Wynn et al., Prenatal Diagnosis 2023. 43:1344-54.
Journal: Prenatal diagnosis
Published: November 22, 2023
Overview of Noninvasive Prenatal Testing (NIPT) for the Detection of Fetal Chromosome Abnormalities; Differences in Laboratory Methods and Scope of Testing.
Journal: Clinical obstetrics and gynecology
Published: August 31, 2023
Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy.
Journal: Obstetrics and gynecology
Published: April 24, 2023
Correspondence on "Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions" by Hoskovec et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 21, 2023
Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single-center study.
Journal: Molecular genetics & genomic medicine
Published: October 12, 2022
Last Updated: 09/26/2026