Arthur L. Beaudet
Affiliations: | Baylor College of Medicine, Houston, TX |
Area:
Genomic imprinting, epigenetics, and angelman syndromeGoogle:
"Arthur Beaudet"Mean distance: 14.79 (cluster 11) | S | N | B | C | P |
Cross-listing: BCM Tree
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Publications
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Lee D, Chen W, Kaku HN, et al. (2023) Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome. Elife. 12 |
Yuan B, Wang L, Liu P, et al. (2020) CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
Lloyd KCK, Adams DJ, Baynam G, et al. (2020) The Deep Genome Project. Genome Biology. 21: 18 |
Vossaert L, Wang Q, Salman R, et al. (2019) Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis. American Journal of Human Genetics |
Assia Batzir N, Kishor Bhagwat P, Larson A, et al. (2019) Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy. Human Mutation |
Liu P, Meng L, Normand EA, et al. (2019) Reanalysis of Clinical Exome Sequencing Data. The New England Journal of Medicine. 380: 2478-2480 |
Dharmadhikari AV, Ghosh R, Yuan B, et al. (2019) Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Medicine. 11: 30 |
Aref-Eshghi E, Bend EG, Colaiacovo S, et al. (2019) Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. American Journal of Human Genetics |
Goin-Kochel RP, Scaglia F, Schaaf CP, et al. (2019) Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study. Global Pediatric Health. 6: 2333794X19830696 |
Burrage LC, Reynolds JJ, Baratang NV, et al. (2019) Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics |