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RICHARD ALAN LEWIS

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Medicine
    DivisionMedicine-Genetics

    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Ophthalmology
    DivisionOphthalmology

    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Pediatrics
    DivisionPediatrics-Administration


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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Chen CA, Yin J, Lewis RA, Schaaf CP. Genetic causes of optic nerve hypoplasia. J Med Genet. 2017 May 13. PMID: 28501829.
      View in: PubMed
    2. Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 Mar 21; 9(1):26. PMID: 28327206.
      View in: PubMed
    3. Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 Mar; 3(2):a000984. PMID: 28299356.
      View in: PubMed
    4. Wong BK, Sutton VR, Lewis RA, Van den Veyver IB. Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients. Mol Genet Genomic Med. 2017 Mar; 5(2):117-121. PMID: 28361097.
      View in: PubMed
    5. Wang X, Feng Y, Li J, Zhang W, Wang J, Lewis RA, Wong LJ. Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis. PLoS One. 2016; 11(10):e0165405. PMID: 27788217.
      View in: PubMed
    6. Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2016 Sep 22. PMID: 27657687.
      View in: PubMed
    7. Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 6; 99(4):831-845. PMID: 27640307.
      View in: PubMed
    8. Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2016 Nov; 18(11):1143-1150. PMID: 26986877.
      View in: PubMed
    9. Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong LC, Lewis RA, Chen R. ADIPOR1 is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2015 Dec 12. PMID: 26662040.
      View in: PubMed
    10. Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 Jan; 4(1):77-94. PMID: 26788539.
      View in: PubMed
    11. Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ. Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Oct; 55(10):6213-23. PMID: 25097241.
      View in: PubMed
    12. Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013; 14:83. PMID: 23947751; PMCID: PMC3751849.
    13. Hager JL, Lewis RA, Lambert HM. Treatment of cystoid macular edema in a patient with birdshot chorioretinopathy with bevacizumab. Retin Cases Brief Rep. 2013; 7(1):108-10. PMID: 25390538.
      View in: PubMed
    14. Fruhman G, Eble TN, Gambhir N, Sutton VR, Van den Veyver IB, Lewis RA. Ophthalmologic findings in Aicardi syndrome. J AAPOS. 2012 Jun; 16(3):238-41. PMID: 22681940; PMCID: PMC3650611.
    15. Brunetti-Pierri N, Lamance KM, Lewis RA, Craigen WJ. 30-year follow-up of a patient with classic citrullinemia. Mol Genet Metab. 2012 Jun; 106(2):248-50. PMID: 22494546.
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    16. Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40. PMID: 22219648; PMCID: PMC3250376.
    17. Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 Dec; 32(12):1450-9. PMID: 21901789; PMCID: PMC3943164.
    18. Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F. Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. Mol Genet Metab. 2011 Aug; 103(4):383-7. PMID: 21636302.
      View in: PubMed
    19. Andrabi S, Bekheirnia MR, Robbins-Furman P, Lewis RA, Prior TW, Potocki L. SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A. 2011 May; 155A(5):1165-9. PMID: 21465659.
      View in: PubMed
    20. Wiszniewski W, Lewis RA, Stockton DW, Peng J, Mardon G, Chen R, Lupski JR. Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Hum Genet. 2011 Mar; 129(3):319-27. PMID: 21153841; PMCID: PMC3625363.
    21. Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L. Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A. 2010 Mar; 152A(3):565-72. PMID: 20140962.
      View in: PubMed
    22. Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB. A genome-wide screen for copy number alterations in Aicardi syndrome. Am J Med Genet A. 2009 Oct; 149A(10):2113-21. PMID: 19760649; PMCID: PMC3640635.
    23. Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 Sep; 149A(9):1916-21. PMID: 19676059.
      View in: PubMed
    24. Erez A, Patel AJ, Wang X, Xia Z, Bhatt SS, Craigen W, Cheung SW, Lewis RA, Fang P, Davenport SL, Stankiewicz P, Lalani SR. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics. 2009 Oct; 10(4):363-9. PMID: 19471977.
      View in: PubMed
    25. Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet. 2009 Mar; 84(3):380-7. PMID: 19268277; PMCID: PMC2668010.
    26. Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB. Non-random X chromosome inactivation in Aicardi syndrome. Hum Genet. 2009 Mar; 125(2):211-6. PMID: 19116729; PMCID: PMC2660246.
    27. Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 2008 Nov 15; 146A(22):2871-8. PMID: 18925666; PMCID: PMC2597151.
    28. Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, O'Brian Smith E, Ellis KJ, Lee B. Generalized metabolic bone disease in Neurofibromatosis type I. Mol Genet Metab. 2008 May; 94(1):105-11. PMID: 18289904; PMCID: PMC2430595.
    29. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49. PMID: 17357070; PMCID: PMC1852712.
    30. Wiszniewski W, Lewis RA, Lupski JR. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet. 2007 May; 121(3-4):433-9. PMID: 17265047.
      View in: PubMed
    31. Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR. Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Hum Genet. 2006 Sep; 120(2):211-26. PMID: 16794820.
      View in: PubMed
    32. Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB. Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 2005 Oct 15; 138A(3):254-8. PMID: 16158440.
      View in: PubMed
    33. Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. Am J Med Genet A. 2005 Oct 1; 138A(2):175-80. PMID: 16152635.
      View in: PubMed
    34. Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR. ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Hum Mol Genet. 2005 Oct 1; 14(19):2769-78. PMID: 16103129.
      View in: PubMed
    35. Curry SM, Daou AG, Hermanns P, Molinari A, Lewis RA, Bejjani BA. Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. Ophthalmic Genet. 2004 Mar; 25(1):3-9. PMID: 15255109.
      View in: PubMed
    36. Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F. Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. Am J Med Genet A. 2004 Feb 1; 124A(4):392-6. PMID: 14735588.
      View in: PubMed
    37. Eichers ER, Lewis RA, Katsanis N, Lupski JR. Triallelic inheritance: a bridge between Mendelian and multifactorial traits. Ann Med. 2004; 36(4):262-72. PMID: 15224652.
      View in: PubMed
    38. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat. 2003 Jun; 21(6):636-44. PMID: 12754711.
      View in: PubMed
    39. Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003 May 7; 95(9):669-74. PMID: 12734318.
      View in: PubMed
    40. Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003 May; 72(5):1200-12. PMID: 12687501; PMCID: PMC1180272.
    41. Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet. 2002 Jul; 71(1):22-9. PMID: 12016587; PMCID: PMC384990.
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