Publications by authors named "Richard Alan Lewis"

57Publications

Genetic causes of optic nerve hypoplasia.

J Med Genet 2017 07 13;54(7):441-449. Epub 2017 May 13.

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

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http://dx.doi.org/10.1136/jmedgenet-2017-104626DOI Listing
July 2017

Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.

Middle East Afr J Ophthalmol 2016 Jan-Mar;23(1):139-41

Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.4103/0974-9233.171779DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759893PMC
August 2016

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

Risk of cataract in persons with cytomegalovirus retinitis and the acquired immune deficiency syndrome.

Ophthalmology 2012 Nov 30;119(11):2343-50. Epub 2012 Jul 30.

Department of Ophthalmology, and the Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1016/j.ophtha.2012.05.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3650486PMC
November 2012

30-year follow-up of a patient with classic citrullinemia.

Mol Genet Metab 2012 Jun 23;106(2):248-50. Epub 2012 Mar 23.

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

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120011
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http://dx.doi.org/10.1016/j.ymgme.2012.03.011DOI Listing
June 2012

Screening for hydroxychloroquine toxicity.

Ophthalmology 2012 Jan;119(1):207; author reply 207-8

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http://dx.doi.org/10.1016/j.ophtha.2011.09.041DOI Listing
January 2012

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

Mol Genet Metab 2011 Aug 7;103(4):383-7. Epub 2011 May 7.

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

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100135
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http://dx.doi.org/10.1016/j.ymgme.2011.04.018DOI Listing
August 2011

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.

Am J Med Genet A 2011 May 4;155A(5):1165-9. Epub 2011 Apr 4.

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

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http://doi.wiley.com/10.1002/ajmg.a.33968
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http://dx.doi.org/10.1002/ajmg.a.33968DOI Listing
May 2011

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Hum Genet 2011 Mar 14;129(3):319-27. Epub 2010 Dec 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B, Houston, TX, USA.

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http://dx.doi.org/10.1007/s00439-010-0928-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625363PMC
March 2011

Effect of host genetics on the development of cytomegalovirus retinitis in patients with AIDS.

J Infect Dis 2010 Aug;202(4):606-13

Laboratory of Genomic Diversity, SAIC-Frederick, National Cancer Institute, Frederick, Maryland 21702-1201, USA.

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http://dx.doi.org/10.1086/654814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2932829PMC
August 2010

Mitochondrial haplogroups are associated with risk of neuroretinal disorder in HIV-positive patients.

J Acquir Immune Defic Syndr 2010 Apr;53(4):451-5

Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD 21702-1201, USA.

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http://dx.doi.org/10.1097/QAI.0b013e3181cb8319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096800PMC
April 2010

A genome-wide screen for copy number alterations in Aicardi syndrome.

Am J Med Genet A 2009 Oct;149A(10):2113-21

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3640635PMC
October 2009

Mutation survey of known LCA genes and loci in the Saudi Arabian population.

Invest Ophthalmol Vis Sci 2009 Mar 20;50(3):1336-43. Epub 2008 Oct 20.

Departments of Molecular and Human Genetics.

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http://dx.doi.org/10.1167/iovs.08-2589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2695987PMC
March 2009

Neuroimaging aspects of Aicardi syndrome.

Am J Med Genet A 2008 Nov;146A(22):2871-8

Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597151PMC
November 2008

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Nat Genet 2008 Apr 9;40(4):443-8. Epub 2008 Mar 9.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733. N Broadway, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/ng.97DOI Listing
April 2008

Generalized metabolic bone disease in Neurofibromatosis type I.

Mol Genet Metab 2008 May 4;94(1):105-11. Epub 2008 Mar 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 635E, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430595PMC
May 2008

Neuropathies associated with conduction block.

Curr Opin Neurol 2007 Oct;20(5):525-30

Wayne State University School of Medicine, Department of Neurology, Detroit, Michigan 48201, USA.

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http://dx.doi.org/10.1097/WCO.0b013e3282efa143DOI Listing
October 2007

Identification of three novel NHS mutations in families with Nance-Horan syndrome.

Mol Vis 2007 Mar 27;13:470-4. Epub 2007 Mar 27.

F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647563PMC
March 2007

Rhinologic manifestations of ectodermal dysplasia.

Am J Rhinol 2007 Jan-Feb;21(1):55-8

Department of Otolaryngology-Head and Neck Surgery, St. Louis University, St. Louis, Missouri, USA.

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http://dx.doi.org/10.2500/ajr.2007.21.2989DOI Listing
March 2007

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Hum Genet 2006 Sep 23;120(2):211-26. Epub 2006 Jun 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-006-0197-yDOI Listing
September 2006

Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.

Invest Ophthalmol Vis Sci 2006 Apr;47(4):1486-90

Health Research and Education Center, Washington State University Spokane, Spokane, Washington 99210-1495, USA.

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http://dx.doi.org/10.1167/iovs.05-0763DOI Listing
April 2006

Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

Nature 2006 Jan 4;439(7074):326-30. Epub 2005 Dec 4.

McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/nature04370DOI Listing
January 2006

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

Hum Mol Genet 2005 Oct 15;14(19):2769-78. Epub 2005 Aug 15.

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

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http://dx.doi.org/10.1093/hmg/ddi310DOI Listing
October 2005

Molecular basis of Peters anomaly in Saudi Arabia.

Ophthalmic Genet 2004 Dec;25(4):257-70

Department of Ophthalmology and Visual Sciences and Pathology, University of Illinois College of Medicine, Chicago, USA.

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http://dx.doi.org/10.1080/13816810490902648DOI Listing
December 2004

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.

Ophthalmic Genet 2004 Mar;25(1):3-9

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

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http://dx.doi.org/10.1076/opge.25.1.3.28999DOI Listing
March 2004

Triallelic inheritance: a bridge between Mendelian and multifactorial traits.

Ann Med 2004 ;36(4):262-72

Departments of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1080/07853890410026214DOI Listing
October 2004

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.

Am J Med Genet A 2004 Feb;124A(4):392-6

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/10.1002/ajmg.a.20428DOI Listing
February 2004

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Am J Hum Genet 2003 Mar 3;72(3):650-8. Epub 2003 Feb 3.

Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1086/368204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180240PMC
March 2003

Visual loss in patients with cytomegalovirus retinitis and acquired immunodeficiency syndrome before widespread availability of highly active antiretroviral therapy.

Arch Ophthalmol 2003 Jan;121(1):99-107

Center for Clinical Trials, Johns Hopkins University, 615 N Wolfe St, Room W5010, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1001/archopht.121.1.99DOI Listing
January 2003

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

Am J Med Genet A 2003 Jan;116A(3):215-21

UCLA Department of Human Genetics, Pediatrics, The Jules Stein Eye Institute and Mental Retardation Research Center, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.10884DOI Listing
January 2003

Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.

Invest Ophthalmol Vis Sci 2002 Feb;43(2):466-73

Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.

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February 2002