Publications by authors named "Arthur Beaudet"

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Correction: Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome.
Dongwon Lee, Wu Chen, Heet Naresh Kaku, Xinming Zhuo, Eugene S Chao, Arthur L Beaudet

Elife· October 2024

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Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.
Michelle Bellair, Elisabete Amaral, Mason Ouren, Cameron Roark, Jaeweon Kim, Arthur L Beaudet

Prenat Diagn· March 2024

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Memorial: William E. O'Brien, Ph.D.
Sarah H Elsea, Arthur L Beaudet

Mol Genet Metab· March 2024

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Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome.
Dongwon Lee, Wu Chen, Heet Naresh Kaku, Xinming Zhuo, Eugene S Chao, Arthur L Beaudet

Elife· January 2023

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Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Arthur L Beaudet

Nat Cardiovasc Res· May 2022

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Circadian Rhythms and Sleep Are Dependent Upon Expression Levels of Key Ubiquitin Ligase .
Shu-Qun Shi, Carrie E Mahoney, Pavel Houdek, Wenling Zhao, Matthew P Anderson, Arthur Beaudet

Front Behav Neurosci· March 2022

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Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Arthur L Beaudet

Nat Cardiovasc Res· February 2022

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Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.
Xinming Zhuo, Qun Wang, Liesbeth Vossaert, Roseen Salman, Adriel Kim, Arthur Beaudet

PLoS One· October 2021

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A resource of targeted mutant mouse lines for 5,061 genes.
Marie-Christine Birling, Atsushi Yoshiki, David J Adams, Shinya Ayabe, Arthur L Beaudet

Nat Genet· April 2021

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The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell-based noninvasive prenatal testing.
Tachjaree Panchalee, Liesbeth Vossaert, Qun Wang, Brielle R Crovetti, Anne K McCombs, Arthur L Beaudet

Prenat Diagn· October 2020

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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Bo Yuan, Lei Wang, Pengfei Liu, Chad Shaw, Hongzheng Dai, Arthur L Beaudet

Genet Med· October 2020

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Nurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, Zeynep Coban Akdemir, Maciej Bagłaj, Arthur L Beaudet

Hum Mutat· March 2020

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The Deep Genome Project.
K C Kent Lloyd, David J Adams, Gareth Baynam, Arthur L Beaudet, Fatima Bosch

Genome Biol· February 2020

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Human and mouse essentiality screens as a resource for disease gene discovery.
Pilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A Murray, Mary E Dickinson, Maja Bucan, Arthur L Beaudet

Nat Commun· January 2020

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Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.
Liesbeth Vossaert, Qun Wang, Roseen Salman, Anne K McCombs, Vipulkumar Patel, Arthur L Beaudet

Am J Hum Genet· December 2019

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Reanalysis of Clinical Exome Sequencing Data.
Pengfei Liu, Linyan Meng, Elizabeth A Normand, Fan Xia, Xiaofei Song, Arthur L Beaudet

N Engl J Med· June 2019

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Arthur L Beaudet

Genome Med· May 2019

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Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Jinglan Zhang, Jianli Li, Jennifer B Saucier, Yanming Feng, Yanjun Jiang, Arthur Beaudet

Nat Med· April 2019

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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Erfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Arthur L Beaudet

Am J Hum Genet· April 2019

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Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.
K Naga Mohan, Ye Cao, Justin Pham, Sau Wai Cheung, Lori Hoffner, Arthur L Beaudet

J Hum Genet· March 2019

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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Jinglan Zhang, Jianli Li, Jennifer B Saucier, Yanming Feng, Yanjun Jiang, Arthur Beaudet

Nat Med· March 2019

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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, Jennifer B Phillips, Jeremy Wegner, Arthur L Beaudet

Am J Hum Genet· March 2019

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Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.
Bret A Moore, Brian C Leonard, Lionel Sebbag, Sydney G Edwards, Ann Cooper, Arthur L Beaudet

Commun Biol· March 2019

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Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.
Robin P Goin-Kochel, Fernando Scaglia, Christian P Schaaf, Leandra N Berry, Dianne Dang, Arthur L Beaudet

Glob Pediatr Health· February 2019

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Identification of genes required for eye development by high-throughput screening of mouse knockouts.
Bret A Moore, Brian C Leonard, Lionel Sebbag, Sydney G Edwards, Ann Cooper, Arthur L Beaudet

Commun Biol· December 2018

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