Arthur Beaudet
Baylor College of Medicine
H-index: 138
North America-United States
Top articles of Arthur Beaudet
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Noninvasive single‐cell‐based prenatal genetic testing: A proof of concept clinical study | Prenatal Diagnosis | Michelle Bellair Elisabete Amaral Mason Ouren Cameron Roark Jaeweon Kim | 2024/2/27 |
Memorial: William E. O'Brien, Ph. D. | Molecular Genetics and Metabolism | Sarah H Elsea Arthur L Beaudet | 2024/3/25 |
Isolation of fetal cells | 2023/9/21 | ||
Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome | Elife | Dongwon Lee Wu Chen Heet Naresh Kaku Xinming Zhuo Eugene S Chao | 2023/1/3 |
Validation study for noninvasive single-cell-based prenatal genetic testing | medRxiv | Michelle Bellair Elisabete Amaral Mason Ouren Cameron Roark Jaeweon Kim | 2023 |
Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy | Nature Cardiovascular Research | Nadine Spielmann Gregor Miller Tudor I Oprea Chih-Wei Hsu Gisela Fobo | 2022/5 |
Centers for Mendelian Genomics: A decade of facilitating gene discovery | Samantha M Baxter Jennifer E Posey Nicole J Lake Nara Sobreira Jessica X Chong | 2022/4/1 | |
Circadian rhythms and sleep are dependent upon expression levels of key ubiquitin ligase Ube3a | Frontiers in behavioral neuroscience | Shu-qun Shi Carrie E Mahoney Pavel Houdek Wenling Zhao Matthew P Anderson | 2022/3/23 |
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy | Nature Cardiovascular Research | Nadine Spielmann Gregor Miller Tudor I Oprea Chih-Wei Hsu Gisela Fobo | 2022/2 |
C. Thomas Caskey, MD (1938–2022): A remembrance | The American Journal of Human Genetics | Arthur L Beaudet Richard A Gibbs | 2022/7/7 |
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT | PLoS One | Xinming Zhuo Qun Wang Liesbeth Vossaert Roseen Salman Adriel Kim | 2021/4/15 |
A resource of targeted mutant mouse lines for 5,061 genes | Nature genetics | Marie-Christine Birling Atsushi Yoshiki David J Adams Shinya Ayabe Arthur L Beaudet | 2021/4 |
Altered circadian rhythms and sleep in a new Angelman Syndrome mouse model | bioRxiv | Shu-qun Shi Carrie E Mahoney Pavel Houdek Wenling Zhao Matthew P Anderson | 2021/10/28 |
Human and mouse essentiality screens as a resource for disease gene discovery | Nature communications | Pilar Cacheiro Violeta Muñoz-Fuentes Stephen A Murray Mary E Dickinson Maja Bucan | 2020/1/31 |
Ube3a-ats raiškos moduliavimas | 2020/9/10 | ||
Modulation af ube3a-ats-ekspression | 2020/7/20 | ||
Spastic Diplegia in a Haitian Girl with Angelman Syndrome | Journal of Pediatric Genetics | Kumarie Latchman Margarita Nieto-Moreno Roberto Lopez Alberola | 2020/6 |
The deep genome project | KC Kent Lloyd David J Adams Gareth Baynam Arthur L Beaudet Fatima Bosch | 2020/12 | |
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy | Human mutation | Nurit Assia Batzir Pranjali Kishor Bhagwat Austin Larson Zeynep Coban Akdemir Maciej Bagłaj | 2020/3 |
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels | Genetics in Medicine | Bo Yuan Lei Wang Pengfei Liu Chad Shaw Hongzheng Dai | 2020/10 |
