Peter Bauer

TitleVolunteer Faculty
InstitutionThomas Jefferson University
DepartmentFaculty Records
Address833 Chestnut Street
Philadelphia PA 19107
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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. Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-W?dl S, Osmanovic D, Bj?rgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, H?bner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain. 2023 Dec 23. PMID: 38141063.
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    2. Almeida LS, Pereira C, Aanicai R, Schr?der S, Bochinski T, Kaune A, Urzi A, Spohr TCLS, Viceconte N, Oppermann S, Alasel M, Ebadat S, Iftikhar S, Jasinge E, Elsayed SM, Tomoum H, Marzouk I, Jalan AB, Cerkauskaite A, Cerkauskiene R, Tkemaladze T, Nadeem AM, El Din Mahmoud IG, Mossad FA, Kamel M, Selim LA, Cheema HA, Paknia O, Cozma C, Juaristi-Manrique C, Guatibonza-Moreno P, B?ttcher T, Vogel F, Pinto-Basto J, Bertoli-Avella A, Bauer P. An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients. Eur J Hum Genet. 2022 09; 30(9):1029-1035. PMID: 35614200.
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    3. Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 09; 30(9):1017-1021. PMID: 35577938.
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    4. Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z, Falana M, Balousha O, Ayesh S, Keimer R, Deigendesch W, Zaidan J, Marzouqa H, Bauer P, Sch?ls L. Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. Eur J Hum Genet. 2022 Feb; 30(2):248. PMID: 34050322.
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    5. Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, H?ning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. Genet Med. 2021 08; 23(8):1551-1568. PMID: 33875846.
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    6. Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 06; 23(6):1158-1162. PMID: 33531666.
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    7. Tripolszki K, Sasaki E, Hotakainen R, Kassim AH, Pereira C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM. An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Clin Genet. 2021 02; 99(2):303-308. PMID: 33131077.
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    8. Miranda M, Harmuth F, Bustamante ML, Rossi M, Sturm M, Magnusson ?T, Bauer P, Klockgether T, Ramirez A. Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia. Parkinsonism Relat Disord. 2020 12; 81:45-47. PMID: 33049588.
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    9. Arora V, Khan S, W El-Hattab A, Dua Puri R, Rocha ME, Merdzanic R, Paknia O, Beetz C, Rolfs A, Bertoli-Avella AM, Bauer P, Verma IC. Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis. J Am Soc Nephrol. 2021 01; 32(1):223-228. PMID: 33020172.
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    10. Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K, Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet. 2021 02; 29(2):271-279. PMID: 32901138.
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    11. Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z, Falana M, Balousha O, Ayesh S, Keimer R, Deigendesch W, Zaidan J, Marzouqa H, Bauer P, Sch?ls L. First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. Eur J Hum Genet. 2020 08; 28(8):1034-1043. PMID: 32214227.
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    12. Froukh T, Nafie O, Al Hait SAS, Laugwitz L, Sommerfeld J, Sturm M, Baraghiti A, Issa T, Al-Nazer A, Koch PA, Hanselmann J, Kootz B, Bauer P, Al-Ameri W, Abou Jamra R, Alfrook AJ, Hamadallah M, Sofan L, Riess A, Haack TB, Riess O, Buchert R. Genetic basis of neurodevelopmental disorders in 103 Jordanian families. Clin Genet. 2020 04; 97(4):621-627. PMID: 32056211.
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    13. Hengel H, Bosso-Lef?vre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot ?, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Sch?le R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Sch?ls L, Reversade B. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020 01 30; 11(1):595. PMID: 32001716.
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    14. Mayer AK, Balousha G, Sharkia R, Mahajnah M, Ayesh S, Schulze M, Buchert R, Zobor D, Azem A, Sch?ls L, Bauer P, Wissinger B. Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. Eur J Hum Genet. 2020 06; 28(6):742-753. PMID: 31896775.
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    15. Beetz C, Ameziane N, Kdissa A, Karageorgou V, Bauer P, Suleiman J, Sutton VR, El-Hattab AW. VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Clin Genet. 2020 04; 97(4):644-648. PMID: 31845315.
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    16. Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schr?ck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C. Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women. BMC Cancer. 2019 Aug 08; 19(1):787. PMID: 31395037.
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    17. Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Sch?ls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med. 2019 11; 21(11):2521-2531. PMID: 31092906.
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    18. Y?ksel Z, Vogel F, Alhashem AM, Alanzi TSA, Tabarki B, Kampe K, Kandaswamy KK, Werber M, Bertoli-Avella AM, Beetz C, Rolfs A, Bauer P. A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Clin Genet. 2019 05; 95(5):631-633. PMID: 30791088.
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    19. Kishore A, Ashok Kumar Sreelatha A, Sturm M, von-Zweydorf F, Pihlstr?m L, Raimondi F, Russell R, Lichtner P, Banerjee M, Krishnan S, Rajan R, Puthenveedu DK, Chung SJ, Bauer P, Riess O, Gloeckner CJ, Kruger R, Gasser T, Sharma M. Understanding the role of genetic variability in LRRK2 in Indian population. Mov Disord. 2019 04; 34(4):496-505. PMID: 30485545.
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    20. Rad A, Altunoglu U, Miller R, Maroofian R, James KN, ?aglayan AO, Najafi M, Stanley V, Boustany RM, Yesil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet. 2019 05; 56(5):332-339. PMID: 30487245.
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    21. Frints SGM, Ozanturk A, Rodr?guez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Mol Psychiatry. 2019 11; 24(11):1748-1768. PMID: 29728705.
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    22. Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Sch?ls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology. 2017 Sep 05; 89(10):1043-1049. PMID: 28794257.
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    23. Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altm?ller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Br?stle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Sch?ls L, N?rnberg P, Zuchner S, Klockgether T, Ramirez A, Sch?le R. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 06 01; 140(6):1561-1578. PMID: 28459997.
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    24. Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS. Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. Am J Hum Genet. 2016 Dec 01; 99(6):1359-1367. PMID: 27866705.
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    25. L?ffler MW, Chandran PA, Laske K, Schroeder C, Bonzheim I, Walzer M, Hilke FJ, Trautwein N, Kowalewski DJ, Schuster H, G?nder M, Carcamo Ya?ez VA, Mohr C, Sturm M, Nguyen HP, Riess O, Bauer P, Nahnsen S, Nadalin S, Zieker D, Glatzle J, Thiel K, Schneiderhan-Marra N, Clasen S, B?sm?ller H, Fend F, Kohlbacher O, Gouttefangeas C, Stevanovic S, K?nigsrainer A, Rammensee HG. Erratum to "Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient". J Hepatol. 2017 01; 66(1):252-253. PMID: 27863814.
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    26. Amato D, Canneva F, Nguyen HP, Bauer P, Riess O, von H?rsten S, M?ller CP. Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat. J Psychopharmacol. 2017 04; 31(4):461-473. PMID: 27856682.
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    27. Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet. 2016 10; 24(10):1515. PMID: 27628564.
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    28. Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gl?ser D, Joset P, Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-W?dl S, Kohlhase J, Reis A, Zweier C. FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. J Med Genet. 2017 01; 54(1):64-72. PMID: 27572252.
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    29. L?ffler MW, Chandran PA, Laske K, Schroeder C, Bonzheim I, Walzer M, Hilke FJ, Trautwein N, Kowalewski DJ, Schuster H, G?nder M, Carcamo Ya?ez VA, Mohr C, Sturm M, Nguyen HP, Riess O, Bauer P, Nahnsen S, Nadalin S, Zieker D, Glatzle J, Thiel K, Schneiderhan-Marra N, Clasen S, B?sm?ller H, Fend F, Kohlbacher O, Gouttefangeas C, Stevanovic S, K?nigsrainer A, Rammensee HG. Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient. J Hepatol. 2016 10; 65(4):849-855. PMID: 27397612.
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    30. Soehn AS, Rattay TW, Beck-W?dl S, Sch?ferhoff K, Monk D, D?bler-Neumann M, H?rtnagel K, Schl?ter A, Ruiz M, Pujol A, Z?chner S, Riess O, Sch?le R, Bauer P, Sch?ls L. Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul 12; 87(2):186-91. PMID: 27316240.
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    31. Sturm M, Schroeder C, Bauer P. SeqPurge: highly-sensitive adapter trimming for paired-end NGS data. BMC Bioinformatics. 2016 May 10; 17:208. PMID: 27161244.
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    32. Gburek-Augustat J, Beck-Woedl S, Tzschach A, Bauer P, Schoening M, Riess A. Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. Eur J Paediatr Neurol. 2016 Jul; 20(4):661-5. PMID: 27184330.
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    33. Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenm?ller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Z?chner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Sch?ls L, Sch?le R, de Jonghe P, Anheim M, Taroni F, Bauer P. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain. 2016 05; 139(Pt 5):1378-93. PMID: 27086870.
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    34. Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet. 2016 Jan; 24(1):2-5. PMID: 26508566.
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    35. Huttenlocher J, Stefansson H, Steinberg S, Helgadottir HT, Sveinbj?rnsd?ttir S, Riess O, Bauer P, Stefansson K. Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease. Hum Mol Genet. 2015 Oct 01; 24(19):5637-43. PMID: 26188007.
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    36. Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schr?ck E, Bauer P, Rump A. HBOC multi-gene panel testing: comparison of two sequencing centers. Breast Cancer Res Treat. 2015 Jul; 152(1):129-136. PMID: 26022348.
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    37. Doetzer AD, Brancher JA, Pecharki GD, Schlipf N, Werneck R, Mira MT, Riess O, Bauer P, Trevilatto PC. Lactotransferrin Gene Polymorphism Associated with Caries Experience. Caries Res. 2015; 49(4):370-7. PMID: 25998152.
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    38. Waldm?ller S, Schroeder C, Sturm M, Scheffold T, Imbrich K, Junker S, Frische C, Hofbeck M, Bauer P, Bonin M, Gawaz M, Gramlich M. Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies. Mol Cell Probes. 2015 Oct; 29(5):308-14. PMID: 25979592.
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    39. Dufke C, Hauser AK, Sturm M, Fluhr S, W?chter T, Leube B, Auburger G, Ott T, Bauer P, Gasser T, Grundmann K. Mutations in CIZ1 are not a major cause for dystonia in Germany. Mov Disord. 2015 Apr 15; 30(5):740-3. PMID: 25778706.
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    40. Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P. Next-generation sequencing in X-linked intellectual disability. Eur J Hum Genet. 2015 Nov; 23(11):1513-8. PMID: 25649377.
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    41. Doetzer AD, Schlipf N, Alvim-Pereira F, Alvim-Pereira CC, Werneck R, Riess O, Bauer P, Trevilatto PC. Lactotransferrin Gene (LTF) Polymorphisms and Dental Implant Loss: A Case-Control Association Study. Clin Implant Dent Relat Res. 2015 Oct; 17 Suppl 2:e550-61. PMID: 25535701.
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    42. Huttenlocher J, Kr?ger R, Capetian P, Lohmann K, Brockmann K, Csoti I, Klein C, Berg D, Gasser T, Bonin M, Riess O, Bauer P. EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts. J Med Genet. 2015 Jan; 52(1):37-41. PMID: 25368108.
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    43. Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Sch?ls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 Sep; 137(Pt 9):2444-55. PMID: 24972706.
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    44. Schlipf NA, Sch?le R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Sch?ls L, Bauer P. AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Mol Genet Genomic Med. 2014 Sep; 2(5):379-82. PMID: 25333062.
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    45. Dufke C, Sturm M, Schroeder C, Moll S, Ott T, Riess O, Bauer P, Grundmann K. Screening of mutations in GNAL in sporadic dystonia patients. Mov Disord. 2014 Aug; 29(9):1193-6. PMID: 24408567.
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    46. Czeschik JC, Bauer P, Buiting K, Dufke C, Guill?n-Navarro E, Johnson DS, Koehler U, L?pez-Gonz?lez V, L?decke HJ, Male A, Morrogh D, Rie? A, Tzschach A, Wieczorek D, Kuechler A. X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. Orphanet J Rare Dis. 2013 Sep 21; 8:146. PMID: 24053514.
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    47. Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, Yu-Taeger L, Pichler B, Bauer P, Riess O, Nguyen HP. A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers. J Neurosci. 2013 May 22; 33(21):9068-81. PMID: 23699518.
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    48. Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Sch?le R, Haack TB, Sch?ning M, Biskup S, Rudnik-Sch?neborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Kr?ger S, Kreuz F, Bauer P, Sch?ls L. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis. 2013 Mar 15; 8:41. PMID: 23497566.
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    49. Palada V, Stiern S, Gl?ckle N, G?mez-Garre P, Carrillo F, Mir P, Szczaluba K, Tinazzi M, Ajena D, Romani M, Valente EM, M?ller U, Bauer P, Riess O, Ott T, Grundmann K. Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients. Mov Disord. 2012 Jun; 27(7):917. PMID: 22508326.
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    50. Bauer P, Leshinsky-Silver E, Blumkin L, Schlipf N, Schr?der C, Schicks J, Lev D, Riess O, Lerman-Sagie T, Sch?ls L. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . Neurogenetics. 2012 Feb; 13(1):73-6. PMID: 22290197.
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    51. Gispert S, Kurz A, Waibel S, Bauer P, Liepelt I, Geisen C, Gitler AD, Becker T, Weber M, Berg D, Andersen PM, Kr?ger R, Riess O, Ludolph AC, Auburger G. The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis. 2012 Jan; 45(1):356-61. PMID: 21889984.
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    52. Synofzik M, Beetz C, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-H?bsch T, W?llner U, N?gele T, Riess O, Sch?ls L, Bauer P. Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. J Med Genet. 2011 Jun; 48(6):407-12. PMID: 21367767.
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    53. S?hn AS, Gl?ckle N, Doetzer AD, Deuschl G, Felbor U, Topka HR, Sch?ls L, Riess O, Bauer P, M?ller U, Grundmann K. Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord. 2010 Sep 15; 25(12):1982-6. PMID: 20669277.
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    54. Burbulla LF, Schelling C, Kato H, Rapaport D, Woitalla D, Schiesling C, Schulte C, Sharma M, Illig T, Bauer P, Jung S, Nordheim A, Sch?ls L, Riess O, Kr?ger R. Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis. Hum Mol Genet. 2010 Nov 15; 19(22):4437-52. PMID: 20817635.
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    55. Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-H?bsch T, W?llner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Sch?ls L, Brice A. Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry. 2010 Nov; 81(11):1229-32. PMID: 20667868.
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    56. Schlipf NA, Beetz C, Sch?le R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Sch?ls L. A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). Eur J Hum Genet. 2010 Sep; 18(9):1065-7. PMID: 20461110.
      Citations:    
    57. Bauer P, Winner B, Sch?le R, Bauer C, H?fele V, Hehr U, Bonin M, Walter M, Karle K, Ringer TM, Riess O, Winkler J, Sch?ls L. Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. Neurogenetics. 2009 Feb; 10(1):43-8. PMID: 18787847.
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    58. Wahl C, Kautzmann S, Krebiehl G, Strauss K, Woitalla D, M?ller T, Bauer P, Riess O, Kr?ger R. A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients. J Neural Transm (Vienna). 2008 Aug; 115(8):1141-8. PMID: 18446261.
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    59. Schroeder C, Walter M, Berg D, Leitner P, Bauer P, Kohl Z, Winkler J, Riess O, Bonin M. High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's disease. J Mol Diagn. 2008 May; 10(3):217-24. PMID: 18403612.
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    60. Riess O, R?b U, Pastore A, Bauer P, Sch?ls L. SCA3: neurological features, pathogenesis and animal models. Cerebellum. 2008; 7(2):125-37. PMID: 18418689.
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    61. Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol. 2007 Dec; 62(6):656-65. PMID: 18067136.
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    62. Abahuni N, Gispert S, Bauer P, Riess O, Kr?ger R, Becker T, Auburger G. Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease. Neurosci Lett. 2007 Mar 06; 414(2):126-9. PMID: 17267121.
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    63. Tomiuk J, Bachmann L, Bauer C, Rolfs A, Sch?ls L, Roos C, Zischler H, Schuler MM, Bruntner S, Riess O, Bauer P. Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. Eur J Hum Genet. 2007 Jan; 15(1):81-7. PMID: 17033685.
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    64. Bauer P, Kreuz FR, B?rk K, Saft C, Andrich J, Heilemann H, Riess O, Sch?ls L. Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause. Mov Disord. 2006 Oct; 21(10):1734-7. PMID: 16830318.
      Citations:    
    65. Akbas N, Hochstrasser H, Deplazes J, Tomiuk J, Bauer P, Walter U, Behnke S, Riess O, Berg D. Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra. Neurosci Lett. 2006 Oct 16; 407(1):16-9. PMID: 16935420.
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    66. Bauer P, Sch?ls L, Riess O. Spectrin mutations in spinocerebellar ataxia (SCA). Bioessays. 2006 Aug; 28(8):785-7. PMID: 16927298.
      Citations:    
    67. Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Balik? L, Wieczorek S, Zaremba J, Hoffman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Riba? P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Hum Genet. 2006 Sep; 120(2):285-92. PMID: 16847693.
      Citations:    
    68. Konieczny M, Bauer P, Tomiuk J, Weisser G, Haan J, Berger K, Riess O, Sch?ls L. CAG repeats in Restless Legs syndrome. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 05; 141B(2):173-6. PMID: 16389595.
      Citations:    
    69. Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Soliveri P, Lange HW, Weirich-Schwaiger H, Wenning GK, Melegh B, Havasi V, Balik? L, Wieczorek S, Arning L, Zaremba J, Sulek A, Hoffman-Zacharska D, Basak AN, Ersoy N, Zidovska J, Kebrdlova V, Pandolfo M, Riba? P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics. 2006 Mar; 7(1):27-30. PMID: 16369839.
      Citations:    
    70. Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Sch?ls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, W?llner U, Brice A, Riess O, Stevanin G. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol. 2005 Nov; 58(5):720-9. PMID: 16193476.
      Citations:    
    71. Klein C, Djarmati A, Hedrich K, Sch?fer N, Scaglione C, Marchese R, Kock N, Sch?le B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet. 2005 Sep; 13(9):1086-93. PMID: 15970950.
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    72. Berg D, Niwar M, Maass S, Zimprich A, M?ller JC, Wuellner U, Schmitz-H?bsch T, Klein C, Tan EK, Sch?ls L, Marsh L, Dawson TM, Janetzky B, M?ller T, Woitalla D, Kostic V, Pramstaller PP, Oertel WH, Bauer P, Krueger R, Gasser T, Riess O. Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord. 2005 Sep; 20(9):1191-4. PMID: 15895422.
      Citations:    
    73. Jaworski M, Buchmann A, Bauer P, Riess O, Schwarz M. B-raf and Ha-ras mutations in chemically induced mouse liver tumors. Oncogene. 2005 Feb 10; 24(7):1290-5. PMID: 15592514.
      Citations:    
    74. Grundmann K, Laubis-Herrmann U, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Sch?ls L, Topka H, Riess O. Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. Mov Disord. 2004 Nov; 19(11):1294-7. PMID: 15390016.
      Citations:    
    75. Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, M?ller T, Sch?ls L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Kr?ger R, Riess O. Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat. 2004 Oct; 24(4):321-9. PMID: 15365989.
      Citations:    
    76. Grundmann K, Laubis-Herrmann U, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Sch?ls L, Topka H, Riess O. Mutation at the SCA17 locus is not a common cause of primary dystonia. J Neurol. 2004 Oct; 251(10):1232-4. PMID: 15503103.
      Citations:    
    77. Sch?ls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004 May; 3(5):291-304. PMID: 15099544.
      Citations:    
    78. Felletschin B, Bauer P, Walter U, Behnke S, Spiegel J, Csoti I, Sommer U, Zeiler B, Becker G, Riess O, Berg D. Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra. Neurosci Lett. 2003 Nov 27; 352(1):53-6. PMID: 14615048.
      Citations:    
    79. Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Sch?ls L, Topka H, Riess O. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol. 2003 Sep; 60(9):1266-70. PMID: 12975293.
      Citations:    
    80. Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Sch?ls L, Riess O. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol. 2003 Sep; 54(3):367-75. PMID: 12953269.
      Citations:    
    81. Sch?ls L, Bauer I, Z?hlke C, Schulte T, K?lmel C, B?rk K, Topka H, Bauer P, Przuntek H, Riess O. Do CTG expansions at the SCA8 locus cause ataxia? Ann Neurol. 2003 Jul; 54(1):110-5. PMID: 12838526.
      Citations:    
    82. Bauer I, Gencik M, Laccone F, Peters H, Weber BH, Feder EH, Weirich H, Morris-Rosendahl DJ, Rolfs A, Gencikova A, Bauer P, Wenning GK, Epplen JT, Holmes SE, Margolis RL, Ross CA, Riess O. Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype. Ann Neurol. 2002 May; 51(5):662. PMID: 12112122.
      Citations:    
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