Last Updated: 09/26/2026
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Found 109 publications
Correction: Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome.
Journal: eLife
Published: October 15, 2024
Memorial: William E. O'Brien, Ph.D.
Journal: Molecular genetics and metabolism
Published: March 26, 2024
Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.
Journal: Prenatal diagnosis
Published: August 16, 2023
Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome.
Journal: eLife
Published: July 15, 2022
Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Journal: Nature cardiovascular research
Published: May 01, 2022
Circadian Rhythms and Sleep Are Dependent Upon Expression Levels of Key Ubiquitin Ligase Ube3a.
Journal: Frontiers in behavioral neuroscience
Published: December 16, 2021
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Journal: Nature cardiovascular research
Published: April 20, 2021
A resource of targeted mutant mouse lines for 5,061 genes.
Journal: Nature genetics
Published: April 09, 2021
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.
Journal: PloS one
Published: May 15, 2020
The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell-based noninvasive prenatal testing.
Journal: Prenatal diagnosis
Published: March 11, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 10, 2020
Last Updated: 09/26/2026