Publications by authors named "Anita E Beck"

29Publications

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Am J Hum Genet 2020 04 19;106(4):570-583. Epub 2020 Mar 19.

Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118694PMC
April 2020

Contractile properties of developing human fetal cardiac muscle.

J Physiol 2016 Jan 7;594(2):437-52. Epub 2015 Dec 7.

Department of Bioengineering, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1113/JP271290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4713728PMC
January 2016

Obesity management in Prader-Willi syndrome.

Pediatr Endocrinol Rev 2015 Mar;12(3):297-307

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March 2015

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.

Hum Mol Genet 2015 Jun 3;24(12):3348-58. Epub 2015 Mar 3.

Department of Bioengineering, Center for Cardiovascular Biology, University of Washington, Seattle, WA 98195, USA and

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http://dx.doi.org/10.1093/hmg/ddv084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481580PMC
June 2015

Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor.

Pediatrics 2015 Mar;135(3):e736-9

Seattle Children's Hospital, Seattle, Washington; Department of Pediatrics, University of Washington, Seattle, Washington; Seattle Children's Protection Program, Seattle, Washington

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http://dx.doi.org/10.1542/peds.2014-2593DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338324PMC
March 2015

Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Am J Med Genet A 2014 Nov 25;164A(11):2808-13. Epub 2014 Sep 25.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington; Seattle Children's Hospital, Seattle, Washington.

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http://doi.wiley.com/10.1002/ajmg.a.36762
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http://dx.doi.org/10.1002/ajmg.a.36762DOI Listing
November 2014

Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.

Genet Med 2015 May 18;17(5):400-4. Epub 2014 Sep 18.

1] University of Washington School of Medicine, Seattle, Washington, USA [2] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA [3] Seattle Children's Hospital, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2014.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404161PMC
May 2015

Contractility and kinetics of human fetal and human adult skeletal muscle.

J Physiol 2013 Jun 29;591(12):3049-61. Epub 2013 Apr 29.

Department of Bioengineering, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1113/jphysiol.2013.252650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832119PMC
June 2013

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

Am J Med Genet A 2013 Mar 7;161A(3):550-5. Epub 2013 Feb 7.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35809
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http://dx.doi.org/10.1002/ajmg.a.35809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581718PMC
March 2013

Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.

Mol Genet Metab 2006 Aug 20;88(4):364-71. Epub 2006 Mar 20.

Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Drive H-315, Stanford, CA 94305-5208, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920600038
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http://dx.doi.org/10.1016/j.ymgme.2006.02.001DOI Listing
August 2006

Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?

Am J Med Genet A 2005 May;134(4):359-62

Department of Genetics, Stanford University School of Medicine, Stanford, California 94305-5323, USA.

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http://dx.doi.org/10.1002/ajmg.a.30638DOI Listing
May 2005

Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.

Am J Med Genet A 2003 Nov;123A(1):72-8

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.20503DOI Listing
November 2003