PENELOPEBONNENPENELOPE BONNEN0.000000000000000.0000000000000043BONNEN, PENELOPEAssociate Professorprns:coAuthorOfcoauthor ofprns:endDateend dateFaculty Rankprns:fullNamefull nameprns:grantAwardedBygrant awarded byprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:physicalNeighborOfphysical neighborprns:positionInDepartmentposition in departmentprns:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:principalInvestigatorNameprincipal investigator nameprns:publicationDatepublication dateprns:similarTosimilar toprns:sortOrdersort orderprns:startDatestart dateprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAddressAgreementvivo:authorInAuthorshipselected publicationsvivo:authorRankauthor rank in publicationAuthorshipDepartmentDivisionGrantvivo:hasMemberRolemember ofvivo:hasResearchArearesearch areasvivo:hasResearcherRoleresearch activitiesvivo:hrJobTitleHR job titleInformation Resourcevivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressMember Rolevivo:memberRoleOfmember role ofvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleResearcher Rolevivo:researcherRoleOfresearcher role ofRolevivo:roleContributesTocontributes tovivo:sponsorAwardIdsponsor award idrdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst nameGroupfoaf:lastNamelast nameOrganizationPersonAuthorship 1144588Authorship 1219521Authorship 161954925738457Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PECell metabolismThe GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015 Mar 03; 21(3):417-27.Cell Metab2015-03-03T00:00:002015The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.Authorship 8780428988170Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CCNature geneticsAutosomal 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.Nat Genet1997-01-01T00:00:001997Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.26805781Lalani 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 YAmerican journal of human geneticsRecurrent 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.Am J Hum Genet2016-01-21T00:00:002016Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.Authorship 29679522Authorship 30126618Authorship 30156410Authorship 3016357Authorship 305144725868664Huemer 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-B?rgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland RJournal of inherited metabolic diseaseClinical, 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.J Inherit Metab Dis2015-04-14T00:00:002015Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.26026795Stiles AR, Ferdinandusse S, Besse A, Appadurai V, Leydiker KB, Cambray-Forker EJ, Bonnen PE, Abdenur JEMolecular genetics and metabolismSuccessful 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.Mol Genet Metab2015-05-15T00:00:002015Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.26510951Ol?hov? 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 RWBrain : a journal of neurologyLRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain. 2015 Dec; 138(Pt 12):3503-19.Brain2015-10-27T00:00:002015LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.26627007Dogruluk 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 KLCancer researchIdentification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations. Cancer Res. 2015 Dec 15; 75(24):5341-54.Cancer Res2015-12-01T00:00:002015Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations.26643207Appadurai V, DeBarber A, Chiang PW, Patel SB, Steiner RD, Tyler C, Bonnen PEMolecular genetics and metabolismApparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Mol Genet Metab. 2015 Dec; 116(4):298-304.Mol Genet Metab2015-10-26T00:00:002015Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.74Professor10Assistant Professor54Instructor14Associate Professor42Director6Adjunct ProfessorMedicine-Epidemiology & Populat SciAuthorship 3222483519844264Bonnen PE, Lowe JK, Altshuler DM, Breslow JL, Stoffel M, Friedman JM, Pe'er IEuropean journal of human genetics : EJHGEuropean admixture on the Micronesian island of Kosrae: lessons from complete genetic information. Eur J Hum Genet. 2010 Mar; 18(3):309-16.Eur J Hum Genet2009-10-21T00:00:002009European admixture on the Micronesian island of Kosrae: lessons from complete genetic information.Authorship 35995419Authorship 3599881527693233Thompson 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, ?unap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RWAmerican journal of human geneticsRecurrent 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.Am J Hum Genet2016-09-29T00:00:002016Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.27696117Ol?hov? 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 RWJournal of inherited metabolic diseasePathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. J Inherit Metab Dis. 2017 01; 40(1):121-130.J Inherit Metab Dis2016-09-30T00:00:002016Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.22987818Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PEAmerican journal of medical genetics. Part AWDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov; 158A(11):2917-24.Am J Med Genet A2012-09-17T00:00:002012WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.16429162Bonnen 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 JMNature geneticsEvaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet. 2006 Feb; 38(2):214-7.Nat Genet2006-01-22T00:00:002006Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia.Authorship 65305119Authorship 65333913Authorship 65365513Authorship 6539814Authorship 654105627858369Larson A, Weisfeld-Adams JD, Benke TA, Bonnen PEJIMD reportsCerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. JIMD Rep. 2017; 35:1-5.JIMD Rep2016-11-18T00:00:002016Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.27903293Besse A, Petersen AK, Hunter JV, Appadurai V, Lalani SR, Bonnen PEMolecular brainPersonalized medicine approach confirms a milder case of ABAT deficiency. Mol Brain. 2016 12 01; 9(1):93.Mol Brain2016-12-01T00:00:002016Personalized medicine approach confirms a milder case of ABAT deficiency.27912046Thompson 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, ?unap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS, Taylor RWAmerican journal of human geneticsRecurrent 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.Am J Hum Genet2016-12-01T00:00:002016Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.27989324Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, Fran?ois B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, R?tig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger VAmerican journal of human geneticsMutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. Am J Hum Genet. 2017 Jan 05; 100(1):151-159.Am J Hum Genet2016-12-15T00:00:002016Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.28078310Van 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 PEAnnals of clinical and translational neurologyPOLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism. Ann Clin Transl Neurol. 2017 01; 4(1):4-14.Ann Clin Transl Neurol2016-11-16T00:00:002016POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.20811451International HapMap 3 Consortium, Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Gibbs RA, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Dermitzakis E, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Bonnen PE, Gibbs RA, Gonzaga-Jauregui C, Keinan A, Price AL, Yu F, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Schaffner SF, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Pollack S, Price AL, Schaffner SF, 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 JENatureIntegrating common and rare genetic variation in diverse human populations. Nature. 2010 Sep 02; 467(7311):52-8.Nature2010-09-02T00:00:002010Integrating common and rare genetic variation in diverse human populations.Authorship 8692121128411234Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PLNeurologyPhenotype of GABA-transaminase deficiency. Neurology. 2017 May 16; 88(20):1919-1924.Neurology2017-04-14T00:00:002017Phenotype of GABA-transaminase deficiency.11078475Bonnen PE, Story MD, Ashorn CL, Buchholz TA, Weil MM, Nelson DLAmerican journal of human geneticsHaplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet. 2000 Dec; 67(6):1437-51.Am J Hum Genet2000-11-14T00:00:002000Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium.12466288Bonnen PE, Wang PJ, Kimmel M, Chakraborty R, Nelson DLGenome researchHaplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 2002 Dec; 12(12):1846-53.Genome Res2002-12-01T00:00:002002Haplotype and linkage disequilibrium architecture for human cancer-associated genes.17172342Daniel A, Bonnen PE, Fischetti VAJournal of bacteriologyFirst complete genome sequence of two Staphylococcus epidermidis bacteriophages. J Bacteriol. 2007 Mar; 189(5):2086-100.J Bacteriol2006-12-15T00:00:002006First complete genome sequence of two Staphylococcus epidermidis bacteriophages.22308068Bacino CA, Arriola LA, Wiszniewska J, Bonnen PEAmerican journal of medical genetics. Part AWDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012 Mar; 158A(3):622-5.Am J Med Genet A2012-02-03T00:00:002012WDR62 missense mutation in a consanguineous family with primary microcephaly.Authorship 88029010Authorship 88264714Authorship 88425113Authorship 885154329100093Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altm?ller J, Netzer C, Thiele H, N?rnberg P, Yigit G, J?ger M, Hecht J, Kr?ger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak UAmerican journal of human geneticsDe 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.Am J Hum Genet2017-11-02T00:00:002017De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.29297947Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, McFarland R, Taylor RW, Bonnen PEHuman mutationLoss-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.Hum Mutat2018-01-22T00:00:002018Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.29314548Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato DHuman mutationClinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum Mutat. 2018 04; 39(4):563-578.Hum Mutat2018-02-07T00:00:002018Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.29575569Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PDAmerican journal of medical genetics. Part AClinical, 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.Am J Med Genet A2018-03-25T00:00:002018Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.CHRISAMOSCHRIS AMOS13498AMOS, CHRISProfessortrue1ProfessorProfessortrue1Assistant ProfessorAssistant Professortrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessorD009154Physiology2017151480.239304MutationD028361Disorders671370.85248Mitochondrial DiseasesD024101Chemicals & Drugs2033800.810734Mitochondrial ProteinsD004272Chemicals & Drugs1633120.85226DNA, MitochondrialD017237Disorders14260.968931Mitochondrial EncephalomyopathiesAuthorship 9148884Authorship 9280142Authorship 93097815Authorship 9341301729419818Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloglu Z, Blakely EL, Taylor RW, Meitinger T, K?lker S, Prokisch H, Hoffmann GF, Haack TB, Staufner CGenetics in medicine : official journal of the American College of Medical GeneticsSCYL1 variants cause a syndrome with low ?-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet Med. 2018 10; 20(10):1255-1265.Genet Med2018-02-08T00:00:002018SCYL1 variants cause a syndrome with low ?-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).29480352Koenig MK, Bonnen PEJIMD reportsMetabolomics Profile in ABAT Deficiency Pre- and Post-treatment. JIMD Rep. 2019; 43:13-17.JIMD Rep2018-02-27T00:00:002018Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.30201738Thompson K, Mai N, Ol?hov? M, Scial? F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RWEMBO molecular medicineOXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. EMBO Mol Med. 2018 11; 10(11).EMBO Mol Med2018-11-01T00:00:002018OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.30401461Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kov?cs-Nagy R, Gusic M, Graf E, Laugwitz L, R?blitz M, Wroblewski A, Hartmann H, Das AM, B?ltmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Ploski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TBAmerican journal of human geneticsBi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. Am J Hum Genet. 2018 11 01; 103(5):817-825.Am J Hum Genet2018-10-25T00:00:002018Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.2025-12-31NIHBONNEN, PENELOPE E2014-08-15Personalized functional genomics for mitochondrial encephalopathy gene discoveryR01NS083726Principal InvestigatorDepartment of MedicineDepartment of NeuroscienceDepartment of Molecular & Human GeneticsMedicine-Athero & LipoproteinsMolecular & Human GeneticsNeuroscienceBaylor College of MedicineMAUROCOSTA-MATTIOLIMAURO COSTA-MATTIOLI0.000000000000000.000000000000001404COSTA-MATTIOLI, MAUROAdjunct ProfessorCARLOSBACINOCARLOS BACINO29.70508570000000-95.401808700000002643BACINO, CARLOSProfessorERICBOERWINKLEERIC BOERWINKLE0.000000000000000.000000000000002653BOERWINKLE, ERICAdjunct ProfessorWILLIAMCRAIGENWILLIAM CRAIGEN29.70508570000000-95.401808700000002934CRAIGEN, WILLIAMProfessorJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorFERNANDOSCAGLIAFERNANDO SCAGLIA29.70508570000000-95.401808700000003584SCAGLIA, FERNANDOProfessor111groups1.594680.00806947334research areas0.9862260.0094657646coauthor of73.3699.1267460similar to1154selected publicationsAuthorship 942033330804983Ballout RA, Al Alam C, Bonnen PE, Huemer M, El-Hattab AW, Shbarou RFrontiers in geneticsFBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. Front Genet. 2019; 10:39.Front Genet2019-02-05T00:00:002019FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.DAVIDNELSONDAVID NELSON29.71073630000000-95.396604500000003130NELSON, DAVIDProfessorRICHARDGIBBSRICHARD GIBBS0.000000000000000.000000000000003131GIBBS, RICHARDDistinguished Service ProfessorYIHANYI HAN0.000000000000000.000000000000003589HAN, YIAssociate ProfessorSEEMALALANISEEMA LALANI29.71306600000000-95.39705500000000391LALANI, SEEMAProfessorYUMEILIYUMEI LI0.000000000000000.0000000000000044LI, YUMEIAssistant ProfessorAuthorship 94284214Authorship 9434791630911037Perli 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 CScientific reportsNovel 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.Sci Rep2019-03-25T00:00:002019Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.30911575Hayhurst 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 YSAnnals of clinical and translational neurologyLeigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Ann Clin Transl Neurol. 2019 03; 6(3):515-524.Ann Clin Transl Neurol2019-02-17T00:00:002019Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.Authorship 946334931045291Saoura M, Powell CA, Kopajtich R, 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, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk MHuman mutationMutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Hum Mutat. 2019 10; 40(10):1731-1748.Hum Mutat2019-06-18T00:00:002019Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.Authorship 1277296Authorship 1277671Authorship 1282477Authorship 1288236223404778Murdock D, Salit J, Stoffel M, Friedman JM, Pe'er I, Breslow JL, Bonnen PEObesity (Silver Spring, Md.)Longitudinal study shows increasing obesity and hyperglycemia in micronesia. Obesity (Silver Spring). 2013 Sep; 21(9):E421-7.Obesity (Silver Spring)2013-04-09T00:00:002013Longitudinal study shows increasing obesity and hyperglycemia in micronesia.23810381Wiszniewski 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 SRAmerican journal of human geneticsTM4SF20 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.Am J Hum Genet2013-06-27T00:00:002013TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.23947751Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PEBMC medical geneticsExome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83.BMC Med Genet2013-08-16T00:00:002013Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.23993193Bonnen 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 RWAmerican journal of human geneticsMutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 Sep 05; 93(3):471-81.Am J Hum Genet2013-08-29T00:00:002013Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.Authorship 954440531448843Dodson LM, Baldan A, Nissbeck M, Gunja SMR, Bonnen PE, Aubert G, Birchansky S, Virtanen A, Bertuch AAHuman mutationFrom 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.Hum Mutat2019-09-15T00:00:002019From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.Dr. Shaulsky's GroupMemberAuthorship 955828231540697Brezavar D, Bonnen PEMolecular genetics and metabolismIncidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans. Mol Genet Metab. 2019 12; 128(4):463-469.Mol Genet Metab2019-09-12T00:00:002019Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans.Authorship 9564622731585809Johnson 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 MNeuronInhibition 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.Neuron2019-10-01T00:00:002019Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.true1InstructorInstructorAuthorship 9745671331866046Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RWAmerican journal of human geneticsPathogenic 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.Am J Hum Genet2019-12-19T00:00:002019Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Authorship 975473531923470Besse A, Brezavar D, Hanson J, Larson A, Bonnen PEMitochondrionLONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity. Mitochondrion. 2020 03; 51:68-78.Mitochondrion2020-01-07T00:00:002020LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity.MARIADE HAROMARIA DE HARO0.000000000000000.000000000000005746DE HARO, MARIAInstructorPENGFEILIUPENGFEI LIU0.000000000000000.000000000000005915LIU, PENGFEIAssociate Professortrue1Adjunct ProfessorAdjunct ProfessorAuthorship 1134213Authorship 9951702532707086Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rost?sy K, Radelfahr F, Bevot A, D?bler-Neumann M, Hartmann H, Colleaux L, Cordts I, 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, Buchert R, Beck-Woedl S, M?ller AJ, Laugwitz L, N?gele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, H?bner CA, Deschauer M, Mayr JA, Bonnen PE, Kr?geloh-Mann I, Wortmann SB, Haack TBAmerican journal of human geneticsBi-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.Am J Hum Genet2020-07-23T00:00:002020Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.true1ProfessorProfessorAuthorship 10117892733602924Ol?hov? M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Str?neck? V, Hartmannov? H, Bleyer AJ, McBride KL, Bowden SA, Korandov? Z, Pecinov? A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, ?unap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mr?cek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RWNature communicationsPOLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135.Nat Commun2021-02-18T00:00:002021POLRMT mutations impair mitochondrial transcription causing neurological disease.true1Distinguished Service ProfessorDistinguished Service ProfessorAuthorship 10319961334656997Laugwitz 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, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Kr?geloh-Mann I, Haack TB, Distelmaier FJournal of medical geneticsHuman COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. J Med Genet. 2022 09; 59(9):878-887.J Med Genet2021-10-16T00:00:002021Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.Authorship 1033781834741306Hanson J, Brezavar D, Hughes S, Amudhavalli S, Fleming E, Zhou D, Alaimo JT, Bonnen PEClinical geneticsTAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay. Clin Genet. 2022 02; 101(2):214-220.Clin Genet2021-11-15T00:00:002021TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.Authorship 10466142135617047Shintaku 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, Gorman GS, Bonnen PE, Taylor RW, Hirano MThe Journal of clinical investigationRRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. J Clin Invest. 2022 07 01; 132(13).J Clin Invest2022-07-01T00:00:002022RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.true1ProfessorProfessortrue1Associate ProfessorAssociate ProfessorAuthorship 1057248436550172Puscas 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 ENPJ microgravityRare diseases and space health: optimizing synergies from scientific questions to care. NPJ Microgravity. 2022 Dec 22; 8(1):58.NPJ Microgravity2022-12-22T00:00:002022Rare diseases and space health: optimizing synergies from scientific questions to care.true1Associate ProfessorAssociate ProfessorAuthorship 1088238238280023Hanson J, Bonnen PEClinical and experimental medicineSystematic review of mortality and survival rates for APDS. Clin Exp Med. 2024 Jan 27; 24(1):17.Clin Exp Med2024-01-27T00:00:002024Systematic review of mortality and survival rates for APDS.true1Adjunct ProfessorAdjunct Professortrue1Associate ProfessorAssociate ProfessorAuthorship 146006424694284Ma J, Coarfa C, Qin X, Bonnen PE, Milosavljevic A, Versalovic J, Aagaard KBMC genomicsmtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities. BMC Genomics. 2014 Apr 03; 15:257.BMC Genomics2014-04-03T00:00:002014mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities.Authorship 149028524974795Di Prisco GV, Huang W, Buffington SA, Hsu CC, Bonnen PE, Placzek AN, Sidrauski C, Krnjevic K, Kaufman RJ, Walter P, Costa-Mattioli MNature neuroscienceTranslational control of mGluR-dependent long-term depression and object-place learning by eIF2a. Nat Neurosci. 2014 Aug; 17(8):1073-82.Nat Neurosci2014-06-29T00:00:002014Translational control of mGluR-dependent long-term depression and object-place learning by eIF2a.Authorship 832541Authorship 838294Authorship 621671Authorship 989501Authorship 708835