Arthur L Beaudet

Arthur L Beaudet

UNVERIFIED PROFILE

Are you Arthur L Beaudet?   Register this Author

Register author
Arthur L Beaudet

Arthur L Beaudet

Publications by authors named "Arthur L Beaudet"

Are you Arthur L Beaudet?   Register this Author

99Publications

3797Reads

19Profile Views

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.

J Hum Genet 2019 Mar 12;64(3):253-255. Epub 2018 Dec 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-018-0543-7DOI Listing
March 2019

Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Commun Biol 2019 7;2:97. Epub 2019 Mar 7.

27Department of Ophthalmology & Vision Science, School of Medicine, U.C. Davis, Sacramento, CA 95817 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s42003-019-0349-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405960PMC
March 2019

Rapid and Integrative Discovery of Retina Regulatory Molecules.

Cell Rep 2018 Aug;24(9):2506-2519

Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Huffington Center on Aging, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2018.07.090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170014PMC
August 2018

2017 Victor A. McKusick Leadership Award.

Authors:
Arthur L Beaudet

Am J Hum Genet 2018 Mar;102(3):361-363

Departments of Molecular and Human genetics and Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985362PMC
March 2018

Identification of genetic elements in metabolism by high-throughput mouse phenotyping.

Nat Commun 2018 01 18;9(1):288. Epub 2018 Jan 18.

German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-017-01995-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773596PMC
January 2018

Corrigendum: High-throughput discovery of novel developmental phenotypes.

Nature 2017 11 8;551(7680):398. Epub 2017 Nov 8.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature24643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849394PMC
November 2017

Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.

Authors:
Arthur L Beaudet

Bioessays 2017 08 13;39(8). Epub 2017 Jul 13.

Departments of Molecular and Human Genetics and Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bies.201700012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642934PMC
August 2017

Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.

Am J Perinatol 2017 03 17;34(4):340-348. Epub 2016 Aug 17.

Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Lenox-Hill Hospital, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0036-1586501DOI Listing
March 2017

2016 Curt Stern Award Introduction: Brendan Lee.

Authors:
Arthur L Beaudet

Am J Hum Genet 2017 Mar;100(3):395-396

Departments of Molecular and Human Genetics and Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339080PMC
March 2017

Darwin Comes to Clinic.

Authors:
Arthur L Beaudet

Trends Genet 2017 01 28;33(1):1-2. Epub 2016 Nov 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tig.2016.11.005DOI Listing
January 2017

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

N Engl J Med 2017 01 7;376(1):21-31. Epub 2016 Dec 7.

From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1516767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335876PMC
January 2017

Three-dimensional microCT imaging of mouse development from early post-implantation to early postnatal stages.

Dev Biol 2016 11 23;419(2):229-236. Epub 2016 Sep 23.

Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA; Optical Imaging and Vital Microscopy Core, Baylor College of Medicine, Houston, TX 77030, USA; Cardiovascular Research Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00121606163039
Publisher Site
http://dx.doi.org/10.1016/j.ydbio.2016.09.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405732PMC
November 2016

Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

J Inherit Metab Dis 2016 09;39(5):757

Department of Molecular and Human Genetics, Medical Genetics Laboratory, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9944-yDOI Listing
September 2016

High-throughput discovery of novel developmental phenotypes.

Nature 2016 09 14;537(7621):508-514. Epub 2016 Sep 14.

The Jackson Laboratory, Bar Harbor, Maine 04609, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature19356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295821PMC
September 2016

Using fetal cells for prenatal diagnosis: History and recent progress.

Authors:
Arthur L Beaudet

Am J Med Genet C Semin Med Genet 2016 06 2;172(2):123-7. Epub 2016 May 2.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31487DOI Listing
June 2016

Gene-targeting pharmaceuticals for single-gene disorders.

Hum Mol Genet 2016 Apr 30;25(R1):R18-26. Epub 2015 Nov 30.

Department of Molecular and Human Genetics, Baylor College of Medicine Houston, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802373PMC
April 2016

Epigenetics and Human Disease.

Cold Spring Harb Perspect Biol 2016 Feb 1;8(2):a019497. Epub 2016 Feb 1.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/cshperspect.a019497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743078PMC
February 2016

Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach.

MethodsX 2016 2;3:8-18. Epub 2015 Dec 2.

Department of Molecular & Human Genetics, One Baylor Plaza, Houston, TX, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mex.2015.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707176PMC
February 2016

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

J Inherit Metab Dis 2015 Nov 15;38(6):1029-39. Epub 2015 Apr 15.

Department of Molecular and Human Genetics, Medical Genetics Laboratory, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9843-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626538PMC
November 2015

Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation".

Am J Med Genet A 2015 Oct 10;167A(10):2496. Epub 2015 Jun 10.

Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37192DOI Listing
October 2015

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

Am J Med Genet A 2015 Sep 5;167A(9):2162-7. Epub 2015 May 5.

Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37144DOI Listing
September 2015

Preimplantation genetic screens.

Authors:
Arthur L Beaudet

Science 2015 Sep;349(6255):1423

Arthur L. Beaudet is a professor in the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, TX. He is also Chief Medical Officer at Baylor Miraca Genetic Laboratories, a for-profit joint venture partially owned by Baylor College of Medicine that offers commercial genetic laboratory testing.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.aad4803DOI Listing
September 2015

Global genetic carrier testing: a vision for the future.

Authors:
Arthur L Beaudet

Genome Med 2015 29;7(1):79. Epub 2015 Jul 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 USA.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1186%2Fs13073-015-02
Web Search
http://genomemedicine.com/content/7/1/79
Publisher Site
http://dx.doi.org/10.1186/s13073-015-0204-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517364PMC
July 2015

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

Nature 2015 Feb 1;518(7539):409-12. Epub 2014 Dec 1.

Department of Core Antisense Research, Isis Pharmaceuticals, Carlsbad, California 92010, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/nature13975
Publisher Site
http://dx.doi.org/10.1038/nature13975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351819PMC
February 2015

Reaching a CNV milestone.

Authors:
Arthur L Beaudet

Nat Genet 2014 Oct;46(10):1046-8

Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ng.3106
Publisher Site
http://dx.doi.org/10.1038/ng.3106DOI Listing
October 2014

Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.

PLoS Genet 2013 26;9(12):e1004039. Epub 2013 Dec 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873245PMC
August 2014

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Nat Genet 2013 Nov 29;45(11):1405-8. Epub 2013 Sep 29.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA. [3].

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ng.2776
Publisher Site
http://dx.doi.org/10.1038/ng.2776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819162PMC
November 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.

Authors:
Arthur L Beaudet

Child Dev 2013 Jan-Feb;84(1):121-32. Epub 2013 Jan 11.

Baylor College of Medicine.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cdev.12050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725967PMC
July 2013

ARID4A and ARID4B regulate male fertility, a functional link to the AR and RB pathways.

Proc Natl Acad Sci U S A 2013 Mar 4;110(12):4616-21. Epub 2013 Mar 4.

Department of Biochemistry and Molecular Medicine, The George Washington University, Washington, DC 20037, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1218318110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606970PMC
March 2013

Neuroscience. Preventable forms of autism?

Authors:
Arthur L Beaudet

Science 2012 Oct;338(6105):342-3

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1229178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102925PMC
October 2012

Aneuploidy as a mechanism for stress-induced liver adaptation.

J Clin Invest 2012 Sep 6;122(9):3307-15. Epub 2012 Aug 6.

Oregon Stem Cell Center, Papé Family Pediatric Research Institute, Portland, OR, USA.

View Article

Download full-text PDF

Source
http://www.jci.org/articles/view/64026
Publisher Site
http://dx.doi.org/10.1172/JCI64026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428097PMC
September 2012

An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.

PLoS One 2012 4;7(4):e34348. Epub 2012 Apr 4.

Department of Biochemistry and Molecular Biology, George Washington University, Washington, District of Columbia, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0034348PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319576PMC
August 2012

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

Hum Mol Genet 2012 Jul 5;21(13):3001-12. Epub 2012 Apr 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/dds130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3465693PMC
July 2012

Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.

Eur J Hum Genet 2012 Mar 2;20(3):283-90. Epub 2011 Nov 2.

Department of Psychiatry, University of Florida, Gainesville, FL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283188PMC
March 2012

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.

BMC Med Genet 2011 Nov 25;12:154. Epub 2011 Nov 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-12-154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3239290PMC
November 2011

Copy number and SNP arrays in clinical diagnostics.

Annu Rev Genomics Hum Genet 2011 ;12:25-51

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://www.annualreviews.org/doi/10.1146/annurev-genom-09201
Publisher Site
http://dx.doi.org/10.1146/annurev-genom-092010-110715DOI Listing
October 2011

Progress toward noninvasive prenatal diagnosis.

Authors:
Arthur L Beaudet

Clin Chem 2011 Jun 18;57(6):802-4. Epub 2011 Apr 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2011.165563DOI Listing
June 2011

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

Am J Med Genet A 2011 Jun 12;155A(6):1272-80. Epub 2011 May 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33878DOI Listing
June 2011

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Neuron 2011 Jun;70(5):863-85

Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuron.2011.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939065PMC
June 2011

Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors.

Hum Gene Ther 2011 Apr 16;22(4):483-8. Epub 2011 Feb 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://www.liebertpub.com/doi/10.1089/hum.2010.167
Publisher Site
http://dx.doi.org/10.1089/hum.2010.167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3073075PMC
April 2011

Which way for genetic-test regulation? Leave test interpretation to specialists.

Authors:
Arthur L Beaudet

Nature 2010 Aug;466(7308):816-7

Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/466816aDOI Listing
August 2010

Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice.

Authors:
Arthur L Beaudet

Genome Med 2010 Jul 17;2(7):42. Epub 2010 Jul 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://genomemedicine.biomedcentral.com/articles/10.1186/gm1
Publisher Site
http://dx.doi.org/10.1186/gm163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923734PMC
July 2010