Skip to Main Content

Author Details

Arthur L Beaudet
Baylor College of Medicine
1968
441
108
PMIDPaper TitleJournal TitlePublished Year
36594817Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome.Elife2023
33857205Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.PLoS One2021
32452065The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell-based noninvasive prenatal testing.Prenat Diagn2020
31769566Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.Hum Mutat2020
32576985CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.Genet Med2020
30692697Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.Nat Med2019
31785788Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.Am J Hum Genet2019
31216405Reanalysis of Clinical Exome Sequencing Data.N Engl J Med2019
31101064Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.Genome Med2019
30773277Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.Am J Hum Genet2019
30854487Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.Commun Biol2019
30787481Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.Nat Med2019
30929737Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.Am J Hum Genet2019
30815516Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.Glob Pediatr Health2019
30542208Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.J Hum Genet2019
29348434Identification of genetic elements in metabolism by high-throughput mouse phenotyping.Nat Commun2018
30157441Rapid and Integrative Discovery of Retina Regulatory Molecules.Cell Rep2018
29925370Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles.BMC Biol2018
30357877Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.Prenat Diagn2018
294991632017 Victor A. McKusick Leadership Award.Am J Hum Genet2018
27533100Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.Am J Perinatol2017
282576862016 Curt Stern Award Introduction: Brendan Lee.Am J Hum Genet2017
28168676Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.J Autism Dev Disord2017
28327206Lessons learned from additional research analyses of unsolved clinical exome cases.Genome Med2017
28155230Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.Clin Genet2017
28125085The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.Genet Med2017
28934986Identification of novel candidate disease genes from de novo exonic copy number variants.Genome Med2017
29026089A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.Nat Commun2017
29144450Corrigendum: High-throughput discovery of novel developmental phenotypes.Nature2017
28973083Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.JAMA Pediatr2017
28650954Prevalence of sexual dimorphism in mammalian phenotypic traits.Nat Commun2017
28650483Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.Nat Genet2017
28703319Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.Bioessays2017
28602422Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.Am J Hum Genet2017
27908673Darwin Comes to Clinic.Trends Genet2017
27853923The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.J Autism Dev Disord2017
27980096Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Nucleic Acids Res2017
27959697Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.N Engl J Med2017
26739615POGZ truncating alleles cause syndromic intellectual disability.Genome Med2016
26633545Molecular diagnostic experience of whole-exome sequencing in adult patients.Genet Med2016
26628634Gene-targeting pharmaceuticals for single-gene disorders.Hum Mol Genet2016
27671873Three-dimensional microCT imaging of mouse development from early post-implantation to early postnatal stages.Dev Biol2016
27616633Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.Prenat Diagn2016
27761919Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.Prenat Diagn2016
27626380High-throughput discovery of novel developmental phenotypes.Nature2016
27225280Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.J Inherit Metab Dis2016
27133782Using fetal cells for prenatal diagnosis: History and recent progress.Am J Med Genet C Semin Med Genet2016
27368744Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells.Prenat Diagn2016
26834142Epigenetics and Human Disease.Cold Spring Harb Perspect Biol2016
26963284The complex behavioral phenotype of 15q13.3 microdeletion syndrome.Genet Med2016
  • 1 - 50 of 441

Recommended Authors

Alexandre Montpetit
McGill University and Genome Quebec Innovation Centre
Career Start Year 1998
Number of shared co-authors 19
Syed H E Zaidi
Ontario Institute for Cancer Research
Career Start Year 1994
Number of shared co-authors 5
Juli??n Nevado
Institute of Medical and Molecular Genetics
Career Start Year 1993
Number of shared co-authors 7
Ada Hamosh
Johns Hopkins University School of Medicine
Career Start Year 1991
Number of shared co-authors 44
Thomas J Hudson
Ontario Institute for Cancer Research
Career Start Year 1991
Number of shared co-authors 29
Yasushi Okazaki
Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
Career Start Year 1989
Number of shared co-authors 14
Stephen F Kingsmore
Rady Children's Institute for Genomic Medicine
Career Start Year 1988
Number of shared co-authors 15
Lawrence C Brody
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1988
Number of shared co-authors 11
Juha Kere
Folkhalsan Research Center, University of Helsinki
Career Start Year 1987
Number of shared co-authors 19
Cornelius F Boerkoel
University of British Columbia
Career Start Year 1987
Number of shared co-authors 20
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1987
Number of shared co-authors 42
Bruce D Gelb
Icahn School of Medicine at Mount Sinai
Career Start Year 1985
Number of shared co-authors 26
Jonathan Pevsner
Kennedy Krieger Institute, Johns Hopkins University School of Medicine
Career Start Year 1984
Number of shared co-authors 4
Nancy B Spinner
The Perelman School of Medicine at the University of Pennsylvania
Career Start Year 1984
Number of shared co-authors 24
Farid F Chehab
University of California san francisco
Career Start Year 1984
Number of shared co-authors 1
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Career Start Year 1984
Number of shared co-authors 33
Eric D Green
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1984
Number of shared co-authors 48
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Career Start Year 1982
Number of shared co-authors 36
Thomas C Markello
National Institutes of Health
Career Start Year 1982
Number of shared co-authors 15
Richard M Myers
HudsonAlpha Institute for Biotechnology
Career Start Year 1980
Number of shared co-authors 59
Wayne W Grody
David Geffen School of Medicine, university of california los angeles
Career Start Year 1980
Number of shared co-authors 25
Michael Dean
National Cancer Institute
Career Start Year 1980
Number of shared co-authors 14
Jack Goldblatt
King Edward Memorial Hospital for Women
Career Start Year 1978
Number of shared co-authors 7
Kim M Summers
Mater Research Institute-University of Queensland, Translational Research Institute
Career Start Year 1977
Number of shared co-authors 5
David Valle
Johns Hopkins School of Medicine
Career Start Year 1973
Number of shared co-authors 30
Raju Kucherlapati
Harvard Medical School
Career Start Year 1973
Number of shared co-authors 19
Jonathan G Seidman
Harvard Medical School
Career Start Year 1973
Number of shared co-authors 28
Alan F Scott
Johns Hopkins University School of Medicine
Career Start Year 1972
Number of shared co-authors 23
Jacques S Beckmann
University of Lausanne
Career Start Year 1970
Number of shared co-authors 31
Albert de la Chapelle
The Ohio State University Comprehensive Cancer Center
Career Start Year 1961
Number of shared co-authors 15

Collaborators

James R Lupski
Baylor College of Medicine
Co-authored papers 43
Yaping Yang
Baylor College of Medicine
Co-authored papers 25
Weimin Bi
Co-authored papers 23
Seema R Lalani
Co-authored papers 23
James S Sutcliffe
Vanderbilt Genetics Institute, Vanderbilt University
Co-authored papers 19
Donna M Muzny
Baylor College of Medicine
Co-authored papers 18
Richard A Gibbs
Baylor College of Medicine
Co-authored papers 18
Yong-Hui Jiang
Yale University School of Medicine
Co-authored papers 17
David H Ledbetter
University of Florida, College of Medicine-Jacksonville
Co-authored papers 17
Pengfei Liu
Co-authored papers 13
Christie M Ballantyne
Baylor College of Medicine
Co-authored papers 12
Tomasz Gambin
Institute of Computer Science, Warsaw University of Technology
Co-authored papers 11
Fernando Scaglia
Baylor College of Medicine
Co-authored papers 11
Anne M Dickinson
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 10
Wanda K O'Neal
Co-authored papers 10
John R Seavitt
Baylor College of Medicine
Co-authored papers 10
Vernon R Sutton
Baylor College of Medicine
Co-authored papers 10
Klaus Ley
Co-authored papers 10
Monica J Justice
The Hospital for Sick Children
Co-authored papers 9
Eric Boerwinkle
Baylor College of Medicine
Co-authored papers 9
Allan Bradley
The Wellcome Trust Sanger Institute
Co-authored papers 9
Zeynep Coban Akdemir
Baylor College of Medicine
Co-authored papers 9
Linyan Meng
Co-authored papers 9
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 8
Helen Parkinson
European Bioinformatics Institute
Co-authored papers 8
Karen L Svenson
Co-authored papers 8
John W Belmont
Baylor College of Medicine
Co-authored papers 8
Ann-Marie Mallon
The Turing Institute
Co-authored papers 8
Kent C Lloyd
University of California davis
Co-authored papers 8
Terrence F Meehan
European Bioinformatics Institute
Co-authored papers 8
Release 1.2