Penelope E Bonnen

Penelope E Bonnen

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Penelope E Bonnen

Penelope E Bonnen

Publications by authors named "Penelope E Bonnen"

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40Publications

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-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.

Front Genet 2019 5;10:39. Epub 2019 Feb 5.

Division of Pediatric Neurology, Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.3389/fgene.2019.00039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370620PMC
February 2019

Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.

JIMD Rep 2019 27;43:13-17. Epub 2018 Feb 27.

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

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http://dx.doi.org/10.1007/8904_2018_94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323032PMC
February 2018

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

Phenotype of GABA-transaminase deficiency.

Neurology 2017 May 14;88(20):1919-1924. Epub 2017 Apr 14.

From Child and Adolescent Neurology (M.K.K.), University of Texas Medical School, Houston; Neurology (R.H., P.L.P.), Boston Children's Hospital, Harvard Medical School, MA; Child Neurology (J.J.R., W.C., J.B., C.A.C.), Columbia University School of Medicine, New York, NY; Neurology (K.I., M.T.), Kanagawa Children's Medical Center, Yokohama; Pediatrics (H.O.), Jichi Medical School, Tochigi, Japan; Experimental and Systems Pharmacology (K.M.G.), Washington State University, Spokane; and Molecular and Human Genetics (P.E.B.), Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1212/WNL.0000000000003936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444310PMC
May 2017

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.

JIMD Rep 2017 18;35:1-5. Epub 2016 Nov 18.

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

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http://dx.doi.org/10.1007/8904_2016_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585103PMC
November 2016

Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations.

Cancer Res 2015 Dec 1;75(24):5341-54. Epub 2015 Dec 1.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas. Dan L. Duncan Cancer Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas.

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http://dx.doi.org/10.1158/0008-5472.CAN-15-1654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681596PMC
December 2015

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.

Mol Genet Metab 2015 Dec 26;116(4):298-304. Epub 2015 Oct 26.

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

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http://dx.doi.org/10.1016/j.ymgme.2015.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4767010PMC
December 2015

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.

Mol Genet Metab 2015 Aug 15;115(4):161-7. Epub 2015 May 15.

Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California Irvine, Orange, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852729PMC
August 2015

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

Cell Metab 2015 Mar;21(3):417-27

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

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http://dx.doi.org/10.1016/j.cmet.2015.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757431PMC
March 2015

Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α.

Nat Neurosci 2014 Aug 29;17(8):1073-82. Epub 2014 Jun 29.

1] Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA. [2] Memory and Brain Research Center, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/nn.3754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340591PMC
August 2014

mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities.

BMC Genomics 2014 Apr 3;15:257. Epub 2014 Apr 3.

Departments of Obstetrics & Gynecology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.

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http://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2164-15-257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234434PMC
April 2014

Longitudinal study shows increasing obesity and hyperglycemia in micronesia.

Obesity (Silver Spring) 2013 Sep 9;21(9):E421-7. Epub 2013 Apr 9.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/oby.20041DOI Listing
September 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.

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

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.

BMC Med Genet 2013 Aug 16;14:83. Epub 2013 Aug 16.

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

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http://dx.doi.org/10.1186/1471-2350-14-83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751849PMC
August 2013

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

Am J Med Genet A 2012 Nov 17;158A(11):2917-24. Epub 2012 Sep 17.

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

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http://dx.doi.org/10.1002/ajmg.a.35608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000731PMC
November 2012

WDR62 missense mutation in a consanguineous family with primary microcephaly.

Am J Med Genet A 2012 Mar 3;158A(3):622-5. Epub 2012 Feb 3.

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

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http://dx.doi.org/10.1002/ajmg.a.34417DOI Listing
March 2012

Integrating common and rare genetic variation in diverse human populations.

Nature 2010 Sep;467(7311):52-8

Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02138, USA.

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http://dx.doi.org/10.1038/nature09298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173859PMC
September 2010

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information.

Eur J Hum Genet 2010 Mar 21;18(3):309-16. Epub 2009 Oct 21.

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

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http://dx.doi.org/10.1038/ejhg.2009.180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987223PMC
March 2010

First complete genome sequence of two Staphylococcus epidermidis bacteriophages.

J Bacteriol 2007 Mar 15;189(5):2086-100. Epub 2006 Dec 15.

Laboratory of Bacterial Pathogenesis and Immunology, The Rockefeller University, New York, NY 10021, USA.

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http://jb.asm.org/cgi/doi/10.1128/JB.01637-06
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http://dx.doi.org/10.1128/JB.01637-06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1855768PMC
March 2007

Haplotype and linkage disequilibrium architecture for human cancer-associated genes.

Genome Res 2002 Dec;12(12):1846-53

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

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http://www.genome.org/cgi/doi/10.1101/gr.483802
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http://dx.doi.org/10.1101/gr.483802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC187564PMC
December 2002