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PENELOPE BONNEN

TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address
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    R01NS083726     (BONNEN, PENELOPE E)Aug 15, 2014 - Dec 31, 2025
    NIH
    Personalized functional genomics for mitochondrial encephalopathy gene discovery
    Role: Principal Investigator

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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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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Hanson J, Bonnen PE. Systematic review of mortality and survival rates for APDS. Clin Exp Med. 2024 Jan 27; 24(1):17. PMID: 38280023; PMCID: PMC10821986.
      Citations:    Fields:    Translation:Humans
    2. Puscas M, Martineau G, Bhella G, Bonnen PE, Carr P, Lim R, Mitchell J, Osmond M, Urquieta E, Flamenbaum J, Iaria G, Joly Y, Richer ?, Saary J, Saint-Jacques D, Buckley N, Low-Decarie E. Rare diseases and space health: optimizing synergies from scientific questions to care. NPJ Microgravity. 2022 Dec 22; 8(1):58. PMID: 36550172; PMCID: PMC9780351.
      Citations:    
    3. Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Bonnen PE, Taylor RW, Hirano M, Gorman GS. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. J Clin Invest. 2022 07 01; 132(13). PMID: 35617047; PMCID: PMC9246377.
      Citations:    Fields:    Translation:HumansCells
    4. Hanson J, Brezavar D, Hughes S, Amudhavalli S, Fleming E, Zhou D, Alaimo JT, Bonnen PE. TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay. Clin Genet. 2022 02; 101(2):214-220. PMID: 34741306; PMCID: PMC8745489.
      Citations:    Fields:    Translation:Humans
    5. Daliri K, Katibeh P, Leiz S, Steinfeld R, Caglayan AO, Gumus H, Burmeister M, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, M?ller A, Grimmel M, Beck-Woedel S, Kern J, Danhauser K, Alesi V, Baertling F, Vasco G, Wagner M, Mayatepek E, Martinelli D, Groeschel S, Kr?geloh-Mann I, Haack TB, Distelmaier F. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. J Med Genet. 2022 09; 59(9):878-887. PMID: 34656997.
      Citations:    Fields:    
    6. Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Bleyer AJ, McBride KL, Bowden SA, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Kmoch S, Falkenberg M, Gustafsson CM, Taylor RW, Ol?hov? M, Str?neck? V, Hartmannov? H, Korandov? Z, Pecinov? A, ?unap K, Mr?cek T, Gorman GS. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135. PMID: 33602924; PMCID: PMC7893070.
      Citations: 2     Fields:    Translation:HumansCells
    7. Husain RA, Hennings JC, Marx C, Saadi A, Radelfahr F, Hartmann H, Colleaux L, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Wang ZQ, Klockgether T, Klopstock T, Brandl U, Mayr JA, Bonnen PE, Grimmel M, Wagner M, Feichtinger RG, Rost?sy K, Bevot A, D?bler-Neumann M, Cordts I, Buchert R, Beck-Woedl S, M?ller AJ, Laugwitz L, N?gele T, Strom TM, Sturm M, Meitinger T, Riess O, H?bner CA, Deschauer M, Kr?geloh-Mann I, Wortmann SB, Haack TB. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. Am J Hum Genet. 2020 08 06; 107(2):364-373. PMID: 32707086; PMCID: PMC7413886.
      Citations: 10     Fields:    Translation:HumansCells
    8. Besse A, Brezavar D, Hanson J, Larson A, Bonnen PE. LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity. Mitochondrion. 2020 03; 51:68-78. PMID: 31923470; PMCID: PMC8628847.
      Citations: 4     Fields:    Translation:HumansCells
    9. Alston CL, Veling MT, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, McFarland R, Bonnen PE, Pagliarini DJ, Taylor RW, Heidler J, Wolf P, Prokisch H, Wortmann SB, Wittig I. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. Am J Hum Genet. 2020 01 02; 106(1):92-101. PMID: 31866046; PMCID: PMC7042492.
      Citations: 14     Fields:    Translation:HumansCells
    10. Johnson JL, Stoica L, Liu Y, Zhu PJ, Bhattacharya A, Buffington SA, Huq R, Eissa NT, Larsson O, Porse BT, Domingo D, Nawaz U, Carroll R, Jolly L, Scerri TS, Kim HG, Brignell A, Coleman MJ, Braden R, Kini U, Jackson V, Baxter A, Bahlo M, Scheffer IE, Amor DJ, Hildebrand MS, Bonnen PE, Beeton C, Gecz J, Morgan AT, Costa-Mattioli M. Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response. Neuron. 2019 11 20; 104(4):665-679.e8. PMID: 31585809; PMCID: PMC7312756.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    11. Dodson LM, Baldan A, Nissbeck M, Gunja SMR, Bonnen PE, Aubert G, Birchansky S, Virtanen A, Bertuch AA. From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Hum Mutat. 2019 12; 40(12):2414-2429. PMID: 31448843; PMCID: PMC6874886.
      Citations: 6     Fields:    Translation:HumansCells
    12. Brezavar D, Bonnen PE. Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans. Mol Genet Metab. 2019 12; 128(4):463-469. PMID: 31540697; PMCID: PMC8610229.
      Citations: 7     Fields:    Translation:HumansPHPublic Health
    13. Saoura M, Powell CA, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, Taylor RW, Levinger L, Minczuk M, Kopajtich R, McFarland R, Prokisch H. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Hum Mutat. 2019 10; 40(10):1731-1748. PMID: 31045291; PMCID: PMC6764886.
      Citations: 12     Fields:    Translation:HumansCells
    14. Perli E, Pisano A, Glasgow RIC, Carbo M, Hardy SA, Falkous G, He L, Cerbelli B, Pignataro MG, Zacara E, Re F, Della Monica PL, Morea V, Bonnen PE, Taylor RW, d'Amati G, Giordano C. Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement. Sci Rep. 2019 03 25; 9(1):5108. PMID: 30911037; PMCID: PMC6434145.
      Citations: 4     Fields:    Translation:HumansCells
    15. Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Ann Clin Transl Neurol. 2019 03; 6(3):515-524. PMID: 30911575; PMCID: PMC6414492.
      Citations: 5     Fields:    Translation:HumansCells
    16. Ballout RA, Al Alam C, Bonnen PE, Huemer M, El-Hattab AW, Shbarou R. FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. Front Genet. 2019; 10:39. PMID: 30804983; PMCID: PMC6370620.
      Citations: 4     
    17. Thompson K, Mai N, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Ol?hov? M, Scial? F, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C. OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. EMBO Mol Med. 2018 11; 10(11). PMID: 30201738; PMCID: PMC6220311.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    18. Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Hartmann H, Das AM, Fang F, Xu M, Karall D, Zellner H, Haberlandt E, Mayr JA, Ploski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Danhauser K, Alhaddad B, Makowski C, Krahn-Peper C, Berutti R, Kov?cs-Nagy R, Gusic M, Graf E, Laugwitz L, R?blitz M, Wroblewski A, B?ltmann E, Schatz UA, Feichtinger RG, Meitinger T, Prokisch H, Strom TM, Haack TB. Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. Am J Hum Genet. 2018 11 01; 103(5):817-825. PMID: 30401461; PMCID: PMC6218634.
      Citations: 23     Fields:    Translation:HumansCells
    19. Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD, Tetreault M. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. Am J Med Genet A. 2018 05; 176(5):1115-1127. PMID: 29575569; PMCID: PMC5947294.
      Citations: 15     Fields:    Translation:HumansCells
    20. Koenig MK, Bonnen PE. Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment. JIMD Rep. 2019; 43:13-17. PMID: 29480352; PMCID: PMC6323032.
      Citations: 3     
    21. Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloglu Z, Blakely EL, Taylor RW, Hoffmann GF, Staufner C, Alhaddad B, Meitinger T, K?lker S, Prokisch H, Haack TB. SCYL1 variants cause a syndrome with low ?-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet Med. 2018 10; 20(10):1255-1265. PMID: 29419818; PMCID: PMC5989927.
      Citations: 14     Fields:    Translation:Humans
    22. Bruni F, Di Meo I, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D, Bellacchio E, Prokisch H, Haack T. Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum Mutat. 2018 04; 39(4):563-578. PMID: 29314548; PMCID: PMC5873438.
      Citations: 13     Fields:    Translation:HumansCells
    23. Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, McFarland R, Taylor RW, Bonnen PE. Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. Hum Mutat. 2018 04; 39(4):537-549. PMID: 29297947; PMCID: PMC5839994.
      Citations: 9     Fields:    Translation:Humans
    24. Koenig R, Magoulas P, Scaglia F, Kilic E, Fauler B, Kalscheuer VM, Hennig F, Netzer C, Thiele H, Hecht J, Mielke T, Bacino CA, Bonnen PE, Ehmke N, Graul-Neumann L, Smorag L, Segebrecht L, Hennig AF, Adolphs N, Saha N, Altm?ller J, N?rnberg P, Yigit G, J?ger M, Kr?ger U, Krawitz PM, Horn D, Schuelke M, Mundlos S, Wollnik B, Fischer-Zirnsak B, Kornak U. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 02; 101(5):833-843. PMID: 29100093; PMCID: PMC5673623.
      Citations: 27     Fields:    Translation:HumansCells
    25. 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 May 16; 88(20):1919-1924. PMID: 28411234; PMCID: PMC5444310.
      Citations: 19     Fields:    Translation:Humans
    26. Ait-El-Mkadem S, Dayem-Quere M, Chaussenot A, Bannwarth S, Genin EC, Fragaki K, Volker-Touw CLM, van Gassen KLI, de Sain-van der Velde MGM, Jans JJM, Avsec Z, Mertes C, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Fuchs SA, Gusic M, Fran?ois B, Vasnier C, Serre V, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, Amiel J, Haack TB, Strom T, Meitinger T, R?tig A, Delahodde A, Prokisch H, 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; PMCID: PMC5223029.
      Citations: 27     Fields:    Translation:HumansCells
    27. 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 12 01; 9(1):93. PMID: 27903293; PMCID: PMC5131463.
      Citations: 12     Fields:    Translation:HumansCells
    28. 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, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Elpeleg O, Ferrero I, McFarland R, Kunji ERS, Taylor RW, Barbosa IA, ?unap K. 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 12 01; 99(6):1405. PMID: 27912046; PMCID: PMC5142113.
      Citations: 10     Fields:    
    29. Larson A, Weisfeld-Adams JD, Benke TA, Bonnen PE. Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. JIMD Rep. 2017; 35:1-5. PMID: 27858369; PMCID: PMC5585103.
      Citations: 4     
    30. Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Craig K, He L, Hella P, Martin JJ, Van Coster R, Taylor RW, Copeland WC, Bonnen PE, Van Maldergem L, Piard J, Debray FG, Gaussen M, Laloux P, Stevanin G, Mormont E. POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism. Ann Clin Transl Neurol. 2017 01; 4(1):4-14. PMID: 28078310; PMCID: PMC5221457.
      Citations: 5     Fields:    
    31. Thompson K, Hardy SA, 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, Ol?hov? M, Barbosa IA. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. J Inherit Metab Dis. 2017 01; 40(1):121-130. PMID: 27696117; PMCID: PMC5203855.
      Citations: 7     Fields:    Translation:HumansCells
    32. 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, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW, Barbosa IA, ?unap K. 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 10 06; 99(4):860-876. PMID: 27693233; PMCID: PMC5065686.
      Citations: 47     Fields:    Translation:HumansCells
    33. 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 Feb 04; 98(2):347-57. PMID: 26805781; PMCID: PMC4746334.
      Citations: 35     Fields:    Translation:HumansCells
    34. 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; PMCID: PMC4681596.
      Citations: 69     Fields:    Translation:HumansAnimalsCells
    35. Hardy SA, Hall J, Yarham JW, 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, Bonnen PE, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW, Ol?hov? M, Haack TB, Stettner GM, Prokisch H. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain. 2015 Dec; 138(Pt 12):3503-19. PMID: 26510951; PMCID: PMC4655343.
      Citations: 39     Fields:    Translation:HumansCells
    36. 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; PMCID: PMC4767010.
      Citations: 31     Fields:    Translation:Humans
    37. 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; PMCID: PMC4852729.
      Citations: 20     Fields:    Translation:HumansCellsPHPublic Health
    38. 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, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R, Scholl-B?rgi S. 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; PMCID: PMC4841446.
      Citations: 19     Fields:    Translation:Humans
    39. Besse A, Wu P, Donti T, Graham BH, Craigen WJ, Moretti P, Lalani S, Scott KL, Bonnen PE, Bruni F, McFarland R, Taylor RW. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015 Mar 03; 21(3):417-27. PMID: 25738457; PMCID: PMC4757431.
      Citations: 60     Fields:    Translation:HumansCells
    40. Di Prisco GV, Huang W, Buffington SA, Hsu CC, Bonnen PE, Placzek AN, Sidrauski C, Kaufman RJ, Walter P, Costa-Mattioli M, Krnjevic K. Translational control of mGluR-dependent long-term depression and object-place learning by eIF2a. Nat Neurosci. 2014 Aug; 17(8):1073-82. PMID: 24974795; PMCID: PMC4340591.
      Citations: 95     Fields:    Translation:AnimalsCells
    41. 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 Apr 03; 15:257. PMID: 24694284; PMCID: PMC4234434.
      Citations: 39     Fields:    Translation:Humans
    42. 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 05; 93(3):471-81. PMID: 23993193; PMCID: PMC3769921.
      Citations: 61     Fields:    Translation:HumansCells
    43. 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 Aug 16; 14:83. PMID: 23947751; PMCID: PMC3751849.
      Citations: 8     Fields:    Translation:Humans
    44. 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 08; 93(2):197-210. PMID: 23810381; PMCID: PMC3738832.
      Citations: 22     Fields:    Translation:HumansCells
    45. 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.
      Citations: 1     Fields:    Translation:Humans
    46. 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.
      Citations: 12     Fields:    Translation:HumansCells
    47. 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.
      Citations: 11     Fields:    Translation:Humans
    48. International HapMap 3 Consortium, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Bonnen PE, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Gonzaga-Jauregui C, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Takeuchi F, Grossman SR, Shlyakhter I, Hostetter EB, Sabeti PC, Adebamowo CA, Foster MW, Gordon DR, Licinio J, Manca MC, Marshall PA, Matsuda I, Ngare D, Wang VO, Reddy D, Rotimi CN, Royal CD, Sharp RR, Zeng C, Brooks LD, McEwen JE. Integrating common and rare genetic variation in diverse human populations. Nature. 2010 Sep 02; 467(7311):52-8. PMID: 20811451; PMCID: PMC3173859.
      Citations: 1420     Fields:    Translation:Humans
    49. 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.
      Citations: 4     Fields:    Translation:HumansCells
    50. 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.
      Citations: 33     Fields:    Translation:Cells
    51. 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.
      Citations: 39     Fields:    Translation:Humans
    52. 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.
      Citations: 30     Fields:    Translation:HumansCells
    53. 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.
      Citations: 15     Fields:    Translation:HumansAnimals
    54. 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.
      Citations: 379     Fields:    Translation:HumansAnimalsCells
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