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PENELOPE E BONNEN

TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
AddressOne Baylor Plaza
HGSC
Houston TX 77030
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    Other Positions
    TitleAssociate Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular Physiology & Biophysics
    DivisionMolecular Physiology & Biophysics


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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. Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Phenotype of GABA-transaminase deficiency. Neurology. 2017 Apr 14. PMID: 28411234.
      View in: PubMed
    2. Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CL, Vasnier C, Serre V, van Gassen KL, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MG, Jans JJ, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. Am J Hum Genet. 2017 Jan 05; 100(1):151-159. PMID: 27989324.
      View in: PubMed
    3. Besse A, Petersen AK, Hunter JV, Appadurai V, Lalani SR, Bonnen PE. Personalized medicine approach confirms a milder case of ABAT deficiency. Mol Brain. 2016 Dec 01; 9(1):93. PMID: 27903293.
      View in: PubMed
    4. Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet. 2016 Dec 01; 99(6):1405. PMID: 27912046.
      View in: PubMed
    5. Larson A, Weisfeld-Adams JD, Benke TA, Bonnen PE. Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. JIMD Rep. 2016 Nov 18. PMID: 27858369.
      View in: PubMed
    6. Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He L, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, Van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE. POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism. Ann Clin Transl Neurol. 2017 Jan; 4(1):4-14. PMID: 28078310.
      View in: PubMed
    7. Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. J Inherit Metab Dis. 2016 Sep 30. PMID: 27696117.
      View in: PubMed
    8. Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Jan 19. PMID: 26805781.
      View in: PubMed
    9. Dogruluk T, Tsang YH, Espitia M, Chen F, Chen T, Chong Z, Appadurai V, Dogruluk A, Eterovic AK, Bonnen PE, Creighton CJ, Chen K, Mills GB, Scott KL. Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations. Cancer Res. 2015 Dec 15; 75(24):5341-54. PMID: 26627007.
      View in: PubMed
    10. Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain. 2015 Dec; 138(Pt 12):3503-19. PMID: 26510951.
      View in: PubMed
    11. Appadurai V, DeBarber A, Chiang PW, Patel SB, Steiner RD, Tyler C, Bonnen PE. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Mol Genet Metab. 2015 Dec; 116(4):298-304. PMID: 26643207.
      View in: PubMed
    12. Stiles AR, Ferdinandusse S, Besse A, Appadurai V, Leydiker KB, Cambray-Forker EJ, Bonnen PE, Abdenur JE. 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; 115(4):161-7. PMID: 26026795.
      View in: PubMed
    13. Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis. 2015 Sep; 38(5):905-14. PMID: 25868664.
      View in: PubMed
    14. Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015 Mar 3; 21(3):417-27. PMID: 25738457; PMCID: PMC4757431.
    15. Di Prisco GV, Huang W, Buffington SA, Hsu CC, Bonnen PE, Placzek AN, Sidrauski C, Krnjevi? K, Kaufman RJ, Walter P, Costa-Mattioli M. Translational control of mGluR-dependent long-term depression and object-place learning by eIF2?. Nat Neurosci. 2014 Aug; 17(8):1073-82. PMID: 24974795; PMCID: PMC4340591.
    16. Ma J, Coarfa C, Qin X, Bonnen PE, Milosavljevic A, Versalovic J, Aagaard K. mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities. BMC Genomics. 2014; 15:257. PMID: 24694284; PMCID: PMC4234434.
    17. Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 Sep 5; 93(3):471-81. PMID: 23993193; PMCID: PMC3769921.
    18. 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.
    19. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 8; 93(2):197-210. PMID: 23810381; PMCID: PMC3738832.
    20. Murdock D, Salit J, Stoffel M, Friedman JM, Pe'er I, Breslow JL, Bonnen PE. Longitudinal study shows increasing obesity and hyperglycemia in micronesia. Obesity (Silver Spring). 2013 Sep; 21(9):E421-7. PMID: 23404778.
      View in: PubMed
    21. Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov; 158A(11):2917-24. PMID: 22987818; PMCID: PMC4000731.
    22. Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE. WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012 Mar; 158A(3):622-5. PMID: 22308068.
      View in: PubMed
    23. Integrating common and rare genetic variation in diverse human populations. Nature. 2010 Sep 2; 467(7311):52-8. PMID: 20811451; PMCID: PMC3173859.
    24. Bonnen PE, Lowe JK, Altshuler DM, Breslow JL, Stoffel M, Friedman JM, Pe'er I. European admixture on the Micronesian island of Kosrae: lessons from complete genetic information. Eur J Hum Genet. 2010 Mar; 18(3):309-16. PMID: 19844264; PMCID: PMC2987223.
    25. Daniel A, Bonnen PE, Fischetti VA. First complete genome sequence of two Staphylococcus epidermidis bacteriophages. J Bacteriol. 2007 Mar; 189(5):2086-100. PMID: 17172342; PMCID: PMC1855768.
    26. Bonnen PE, Pe'er I, Plenge RM, Salit J, Lowe JK, Shapero MH, Lifton RP, Breslow JL, Daly MJ, Reich DE, Jones KW, Stoffel M, Altshuler D, Friedman JM. Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet. 2006 Feb; 38(2):214-7. PMID: 16429162.
      View in: PubMed
    27. Bonnen PE, Wang PJ, Kimmel M, Chakraborty R, Nelson DL. Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 2002 Dec; 12(12):1846-53. PMID: 12466288; PMCID: PMC187564.
    28. Aradhya S, Woffendin H, Bonnen P, Heiss NS, Yamagata T, Esposito T, Bardaro T, Poustka A, D'Urso M, Kenwrick S, Nelson DL. Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28. Genomics. 2002 Jan; 79(1):31-40. PMID: 11827455.
      View in: PubMed
    29. Bonnen PE, Story MD, Ashorn CL, Buchholz TA, Weil MM, Nelson DL. Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet. 2000 Dec; 67(6):1437-51. PMID: 11078475; PMCID: PMC1287921.
    30. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan; 15(1):62-9. PMID: 8988170.
      View in: PubMed
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