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Publikationen 2017

Wissenschaftliche Originalarbeiten

 

  1. Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW (2017) Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genetics 13:e1006683. doi: 10.1371/journal.pgen.1006683. PMID: 28346496

  2. Adkins AE, Hack LM, Bigdeli TB, Williamson VS, McMichael GO, Mamdani M, Edwards AC, Aliev F, Chan RF, Bhandari P, Raabe RC, Alaimo JT, Blackwell GG, Moscati A, Poland RS, Rood B, Patterson DG, Walsh D; Collaborative Study of the Genetics of Alcoholism Consortium, Whitfield JB, Zhu G, Montgomery GW, Henders AK, Martin NG, Heath AC, Madden PAF, Frank J, Ridinger M, Wodarz N, Soyka M, Zill P, Ising M, Nöthen MM, Kiefer F, Rietschel M; German Study of the Genetics of Addiction Consortium, Gelernter J, Sherva R, Koesterer R, Almasy L, Zhao H, Kranzler HR, Farrer LA, Maher BS, Prescott CA, Dick DM, Bacanu SA, Mathies LD, Davies AG, Vladimirov VI, Grotewiel M, Bowers MS, Bettinger JC, Webb BT, Miles MF, Kendler KS, Riley BP (2017) Genomewide association study of alcohol dependence identifies risk loci altering ethanol-response behaviors in model organisms. Alcoholism: Clinical and Experimental Research 41:911-928. PMID:  28226201

  3. Altmüller J, Haenisch B, Kawalia A, Menzen M, Nöthen MM, Fier H, Molderings GJ (2017) Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing. Immunogenetics 69:359-369. PMID:  28386644

  4. Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M (2017) Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. American Journal of Human Genetics 100:257-266. PMID: 28132689

  5. Aretz S, Siebert R (2017) Rare tumor predisposition syndromes. Medizische Genetik 29:273-275.

  6. Aung T, Ozaki M, Lee MC, …,  Davila S, Herms S, Nöthen MM, Moebus S, Rautenbach RM, … , Wiggs JL, Pasutto F, Khor CC (2017) Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nature Genetics 49:993-1004. PMID:  28553957

  7. Bagci S, Altuntas Ö, Katzer D, Berg C, Willruth A, Reutter H, Bartmann P, Müller A, Zur B (2017) Evaluation of two commercially available ELISA kits for the determination of melatonin concentrations in amniotic fluid throughout pregnancy. Annals of Clinical Biochemistry 54:107-112. PMID: 27166310

  8. Bergfeld WF, Christiano AM, Hordinsky MK; Faculty of the Ninth World Congress of Hair Research [Betz RC] (2017) Proceedings of the Ninth World Congress for Hair Research (2015). Journal of Investigative Dermatology Symposium Proceedings 18:S1-S28. Review. PMID: 28735619

  9. Bigdeli TB, Ripke S, Peterson RE, Trzaskowski M, Bacanu SA, Abdellaoui A, Andlauer TF, Beekman AT, Berger K, Blackwood DH, Boomsma DI, Breen G, Buttenschøn HN, Byrne EM, Cichon S, Clarke TK, Couvy-Duchesne B, Craddock N, de Geus EJ, Degenhardt F, Dunn EC, Edwards AC, Fanous AH, Forstner AJ, Frank J, Gill M, Gordon SD, Grabe HJ, Hamilton SP, Hardiman O, Hayward C, Heath AC, Henders AK, Herms S, Hickie IB, Hoffmann P, Homuth G, Hottenga JJ, Ising M, Jansen R, Kloiber S, Knowles JA, Lang M, Li QS, Lucae S, MacIntyre DJ, Madden PA, Martin NG, McGrath PJ, McGuffin P, McIntosh AM, Medland SE, Mehta D, Middeldorp CM, Milaneschi Y, Montgomery GW, Mors O, Müller-Myhsok B, Nauck M, Nyholt DR, Nöthen MM, Owen MJ, Penninx BW, Pergadia ML, Perlis RH, Peyrot WJ, Porteous DJ, Potash JB, Rice JP, Rietschel M, Riley BP, Rivera M, Schoevers R, Schulze TG, Shi J, Shyn SI, Smit JH, Smoller JW, Streit F, Strohmaier J, Teumer A, Treutlein J, Van der Auwera S, van Grootheest G, van Hemert AM, Völzke H, Webb BT, Weissman MM, Wellmann J, Willemsen G, Witt SH, Levinson DF, Lewis CM, Wray NR, Flint J, Sullivan PF, Kendler KS (2017) Genetic effects influencing risk for major depressive disorder in China and Europe. Translational Psychiatry 7:e1074. doi: 10.1038/tp.2016.292. PMID: 28350396

  10. Binder H, Hopp L, Schweiger MR, Hoffmann S, Jühling F, Kerick M, Timmermann B, Siebert S, Grimm C, Nersisyan L, Arakelyan A, Herberg M, Buske P, Loeffler-Wirth H, Rosolowski M, Engel C, Przybilla J, Peifer M, Friedrichs N, Moeslein G, Odenthal M, Hussong M, Peters S, Holzapfel S, Nattermann J, Hueneburg R, Schmiegel W, Royer-Pokora B, Aretz S, Kloth M, Kloor M, Buettner R, Galle J, Loeffler M (2017) Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome. Journal of Pathology 243:242-254. PMID: 28727142

  11. Birtel J, Gliem M, Mangold E, Tebbe L, Spier I, Müller PL, Holz FG, Neuhaus C, Wolfrum U, Bolz HJ, Charbel Issa P (2017) Novel insights into the phenotypical spectrum of KIF11-associated retinopathy, including a new form of retinal ciliopathy. Investigative Ophthalmology and Visual Science 58:3950-3959. PMID: 28785766

  12. Böhmer AC, Schumacher J (2017) Insights into the genetics of gastroesophageal reflux disease (GERD) and GERD-related disorders. Neurogastroenterology and Motility 29: e13017. doi: 10.1111. Review. PMID: 28132438

  13. Bramswig NC, Caluseriu O, Lüdecke HJ, Bolduc FV, Noel NC, Wieland T, Surowy HM, Christen HJ, Engels H, Strom TM, Wieczorek D (2017) Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. Human Genetics 136:297-305. PMID: 28124119

  14. Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann APA, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D (2017) Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Human Genetics 136:821-834. PMID: 28393272

  15. Bramswig NC, Lüdecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy HM, de Vries BB, Wieland T, Engels H, Strom TM, Kleefstra T, Wieczorek D (2017) Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Human Genetics 136:179-192. PMID: 27848077

  16. Budde M, Forstner AJ, Adorjan K, Schaupp SK, Nöthen MM, Schulze TG (2017) Genetische Grundlagen der bipolaren Störung [Genetics of bipolar disorder]. Nervenarzt 88:755-759. Review. PMID:  28474173

  17. Busch A, Žarković M, Lowe C, Jankofsky M, Ganschow R, Buers I, Kurth I, Reutter H, Rutsch F, Hübner CA (2017) Mutations in CRLF1 cause familial achalasia. Clinical Genetics 92:104-108. PMID: 27976805

  18. Castven D, Fischer M, Becker D, Heinrich S, Andersen JB, Strand D, Sprinzl MF, Strand S, Czauderna C, Heilmann-Heimbach S, Roessler S, Weinmann A, Wörns MA, Thorgeirsson SS, Galle PR, Matter MS, Lang H, Marquardt JU (2017) Adverse genomic alterations and stemness features are induced by field cancerization in the microenvironment of hepatocellular carcinomas. Oncotarget 8:48688-48700. PMID: 28415775

  19. Chan MK, Cooper JD, Heilmann-Heimbach S, Frank J, Witt SH, Nöthen MM, Steiner J, Rietschel M, Bahn S (2017) Associations between SNPs and immune-related circulating proteins in schizophrenia. Scientific Reports 7:12586. doi: 10.1038/s41598-017-12986-0. PMID: 28974776

  20. Chang H, Li L, Peng T, Grigoroiu-Serbanescu M, Bergen SE, Landén M, Hultman CM, Forstner AJ, Strohmaier J, Hecker J, Schulze TG, Müller-Myhsok B, Reif A, Mitchell PB, Martin NG, Cichon S, Nöthen MM, Jamain S, Leboyer M, Bellivier F, Etain B, Kahn JP, Henry C, Rietschel M; Swedish Bipolar Study Group, MooDS Consortium, Xiao X, Li M (2017) Identification of a bipolar disorder vulnerable gene CHDH at 3p21.1. Molecular Neurobiology 54:5166-5176. PMID:  27562178

  21. Chen HH, Händel N, Ngeow J, Muller J, Hühn M, Yang HT, Heindl M, Berbers RM, Hegazy AN, Kionke J, Yehia L, Sack U, Bläser F, Rensing-Ehl A, Reifenberger J, Keith J, Travis S, Merkenschlager A, Kiess W, Wittekind C, Walker L, Ehl S, Aretz S, Dustin ML, Eng C, Powrie F, Uhlig HH (2016) Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. Journal of Allergy and Clinical Immunology 139:607-620. PMID:  27477328

  22. Christophersen IE, Rienstra M, Roselli C, ... , Newton-Cheh C, Shaffer C, Macfarlane PW, Heilmann-Heimbach S, Almgren P, Huang PL, Sotoodehnia N, ..., Lubitz SA, Ellinor PT; AFGen Consortium (2017) Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Nature Genetics 49:946-952. Erratum in: Nature Genetics 2017 Jul 27;49(8): 1286. doi: 10.1038/ng0817-1286c. PMID: 28416818

  23. da Silva Filho MI, Försti A, Weinhold N, Meziane I, Campo C, Huhn S, Nickel J, Hoffmann P, Nöthen MM, Jöckel KH, Landi S, Mitchell JS, Johnson D, Morgan GJ, Houlston R, Goldschmidt H, Jauch A, Milani P, Merlini G, Rowcieno D, Hawkins P, Hegenbart U, Palladini G, Wechalekar A, Schönland SO, Hemminki K (2017) Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma. Leukemia 31:1735-1742. PMID:  28025584

  24. de Sena Cortabitarte A, Degenhardt F, Strohmaier J, Lang M, Weiss B, Roeth R, Giegling I, Heilmann-Heimbach S, Hofmann A, Rujescu D, Fischer C, Rietschel M, Nöthen MM, Rappold GA, Berkel S (2017) Investigation of SHANK3 in schizophrenia. American Journal of Medical Genetics B, Neuropsychiatric Genetics 174:390-398. PMID: 28371232

  25. Debrah LB, Albers A, Debrah AY, Brockschmidt FF, Becker T, Herold C, Hofmann A, Osei-Mensah J, Mubarik Y, Fröhlich H, Hoerauf A, Pfarr K (2017) Single nucleotide polymorphisms in the angiogenic and lymphangiogenic pathways are associated with lymphedema caused by Wuchereria bancrofti. Human Genomics 11:26. doi: 10.1186/s40246-017-0121-7. PMID: 29122006

  26. Deckert J, Weber H, Villmann C, Lonsdorf TB, Richter J, Andreatta M, Arias-Vasquez A, Hommers L, Kent L, Schartner C, Cichon S, Wolf C, Schaefer N, von Collenberg CR, Wachter B, Blum R, Schümann D, Scharfenort R, Schumacher J, Forstner AJ, Baumann C, Schiele MA, Notzon S, Zwanzger P, Janzing JGE, Galesloot T, Kiemeney LA, Gajewska A, Glotzbach-Schoon E, Mühlberger A, Alpers G, Fydrich T, Fehm L, Gerlach AL, Kircher T, Lang T, Ströhle A, Arolt V, Wittchen HU, Kalisch R, Büchel C, Hamm A, Nöthen MM, Romanos M, Domschke K, Pauli P, Reif A (2017) GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder. Molecular Psychiatry 22:1431-1439. PMID:  28167838

  27. Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Lüdecke HJ, Suri M, Carignani G, Renieri A, Kukuk GM, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coëslier A, Zink AM (2017) De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. American Journal of Medical Genetics A 173:435-443. PMID: 27862890

  28. Direk N, Williams S, Smith JA, Ripke S, Air T, Amare AT, Amin N, Baune BT, Bennett DA, Blackwood DHR, Boomsma D, Breen G, Buttenschøn HN, Byrne EM, Børglum AD, Castelao E, Cichon S, Clarke TK, Cornelis MC, Dannlowski U, De Jager PL, Demirkan A, Domenici E, van Duijn CM, Dunn EC, Eriksson JG, Esko T, Faul JD, Ferrucci L, Fornage M, de Geus E, Gill M, Gordon SD, Grabe HJ, van Grootheest G, Hamilton SP, Hartman CA, Heath AC, Hek K, Hofman A, Homuth G, Horn C, Jan Hottenga J, Kardia SLR, Kloiber S, Koenen K, Kutalik Z, Ladwig KH, Lahti J, Levinson DF, Lewis CM, Lewis G, Li QS, Llewellyn DJ, Lucae S, Lunetta KL, MacIntyre DJ, Madden P, Martin NG, McIntosh AM, Metspalu A, Milaneschi Y, Montgomery GW, Mors O, Mosley TH Jr, Murabito JM, Müller-Myhsok B, Nöthen MM, Nyholt DR, O'Donovan MC, Penninx BW, Pergadia ML, Perlis R, Potash JB, Preisig M, Purcell SM, Quiroz JA, Räikkönen K, Rice JP, Rietschel M, Rivera M, Schulze TG, Shi J, Shyn S, Sinnamon GC, Smit JH, Smoller JW, Snieder H, Tanaka T, Tansey KE, Teumer A, Uher R, Umbricht D, Van der Auwera S, Ware EB, Weir DR, Weissman MM, Willemsen G, Yang J, Zhao W, Tiemeier H, Sullivan PF (2017) An analysis of two genome-wide association meta-analyses identifies a new locus for broad depression phenotype. Biological Psychiatry 82:322-329. PMID: 28049566

  29. Dworschak GC, Crétolle C, Hilger A, Engels H, Korsch E, Reutter H, Ludwig M (2017) Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. Clinical Genetics 91:661-671. PMID: 27549440

  30. Dworschak GC, Zwink N, Schmiedeke E, Mortazawi K, Märzheuser S, Reinshagen K, Leonhardt J, Gómez B, Volk P, Rißmann A, Jenetzky E, Reutter H (2017) Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance. Orphanet Journal of Rare Diseases 12:180. doi: 10.1186/s13023-017-0729-7. PMID: 29237507

  31. Ebert AK, Lange T, Reutter H, Jenetzky E, Stein R, Boemers TM, Hirsch K, Rösch WH, Zwink N (2017) Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net. Journal of Pediatric Urology 13:183.e1-183.e6. PMID: 27480467

  32. Erk S, Mohnke S, Ripke S, Lett TA, Veer IM, Wackerhagen C, Grimm O, Romanczuk-Seiferth N, Degenhardt F, Tost H, Mattheisen M, Mühleisen TW, Charlet K, Skarabis N, Kiefer F, Cichon S, Witt SH, Nöthen MM, Rietschel M, Heinz A, Meyer-Lindenberg A, Walter H (2017) Functional neuroimaging effects of recently discovered genetic risk loci for schizophrenia and polygenic risk profile in five RDoC subdomains. Translational Psychiatry 7:e997. doi: 10.1038. PMID:  28072415

  33. Fabbri C, Hosak L, Mössner R, Giegling I, Mandelli L, Bellivier F, Claes S, Collier DA, Corrales A, Delisi LE, Gallo C, Gill M, Kennedy JL, Leboyer M, Lisoway A, Maier W, Marquez M, Massat I, Mors O, Muglia P, Nöthen MM, O'Donovan MC, Ospina-Duque J, Propping P, Shi Y, St Clair D, Thibaut F, Cichon S, Mendlewicz J, Rujescu D, Serretti A (2017) Consensus paper of the WFSBP Task Force on Genetics: Genetics, epigenetics and gene expression markers of major depressive disorder and antidepressant response. World Journal of Biological Psychiatry 18:5-28. Review. PMID: 27603714

  34. Fernandez-Rebollo E, Mentrup B, Ebert R, Franzen J, Abagnale G, Sieben T, Ostrowska A, Hoffmann P, Roux PF, Rath B, Goodhardt M, Lemaitre JM, Bischof O, Jakob F, Wagner W (2017) Human platelet lysate versus fetal calf serum: These supplements do not select for different mesenchymal stromal cells. Scientific Reports 7:5132. doi: 10.1038/s41598-017-05207-1. PMID: 28698620

  35. Fischer J*, Degenhardt F*, Hofmann A, Redler S, Basmanav FB, Heilmann-Heimbach S, Hanneken S, Giehl KA, Wolff H, Moebus S, Kruse R, Lutz G, Blaumeiser B, Böhm M, Garcia Bartels N, Blume-Peytavi U, Petukhova L, Christiano AM, Nöthen MM, Betz RC (2017) Genome-wide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2. Experimental Dermatology 26:536-541. PMID: 27306922. *Both authors contributed equally to this work.

  36. Forstner AJ*, Hecker J*, Hofmann A, Maaser A, Reinbold CS, Mühleisen TW, Leber M, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Schumacher J, Streit F, Meier S, Herms S, Hoffmann P, Lacour A, Witt SH, Reif A, Müller-Myhsok B, Lucae S, Maier W, Schwarz M, Vedder H, Kammerer-Ciernioch J, Pfennig A, Bauer M, Hautzinger M, Moebus S, Schenk LM, Fischer SB, Sivalingam S, Czerski PM, Hauser J, Lissowska J, Szeszenia-Dabrowska N, Brennan P, McKay JD, Wright A, Mitchell PB, Fullerton JM, Schofield PR, Montgomery GW, Medland SE, Gordon SD, Martin NG, Krasnov V, Chuchalin A, Babadjanova G, Pantelejeva G, Abramova LI, Tiganov AS, Polonikov A, Khusnutdinova E, Alda M, Cruceanu C, Rouleau GA, Turecki G, Laprise C, Rivas F, Mayoral F, Kogevinas M, Grigoroiu-Serbanescu M, Becker T, Schulze TG, Rietschel M, Cichon S, Fier H**, Nöthen MM** (2017) Identification of shared risk loci and pathways for bipolar disorder and schizophrenia. PLoS One 12:e0171595. doi: 10.1371. PMID:  2816630. *These authors contributed equally to this work. *These authors also contributed equally to this work. 

  37. Forstner AJ*, Rambau S*, Friedrich N, Ludwig KU, Böhmer AC, Mangold E, Maaser A, Hess T, Kleiman A, Bittner A, Nöthen MM, Becker J, Geiser F*, Schumacher J*, Conrad R* (2017) Further evidence for genetic variation at the serotonin transporter gene SLC6A4 contributing toward anxiety.Psychiatric Genetics 27:96-102. PMID: 28272115. *These authors contributed equally to this article.

  38. Fu J, Beaty TH, Scott AF, Hetmanski J, Parker MM, Wilson JE, Marazita ML, Mangold E, Albacha-Hejazi H, Murray JC, Bureau A, Carey J, Cristiano S, Ruczinski I, Scharpf RB (2017) Whole exome association of rare deletions in multiplex oral cleft families. Genetic Epidemiology 41:61-69. PMID: 27910131

  39. Giegling I, Hosak L, Mössner R, Serretti A, Bellivier F, Claes S, Collier DA, Corrales A, DeLisi LE, Gallo C, Gill M, Kennedy JL, Leboyer M, Maier W, Marquez M, Massat I, Mors O, Muglia P, Nöthen MM, Ospina-Duque J, Owen MJ, Propping P, Shi Y, St Clair D, Thibaut F, Cichon S, Mendlewicz J, O'Donovan MC, Rujescu D (2017) Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics. World Journal of Biological Psychiatry 18:492-505. PMID: 28112043

  40. Glodde N, Bald T, van den Boorn-Konijnenberg D, Nakamura K, O'Donnell JS, Szczepanski S, Brandes M, Eickhoff S, Das I, Shridhar N, Hinze D, Rogava M, van der Sluis TC, Ruotsalainen JJ, Gaffal E, Landsberg J, Ludwig KU, Wilhelm C, Riek-Burchardt M, Müller AJ, Gebhardt C, Scolyer RA, Long GV, Janzen V, Teng MWL, Kastenmüller W, Mazzone M, Smyth MJ, Tüting T, Hölzel M (2017) Reactive neutrophil responses dependent on the receptor tyrosine kinase c-MET limit cancer immunotherapy. Immunity 47:789-802. PMID: 29045907

  41. Greve C, Ruiz-Tagle Lui M, Sivalingam S, Ludwig KU, Wägele H, Donath A (2017) The complete mitochondrial genome of the ‘solar-powered’ sea slug Plakobranchus cf. ocellatus (Heterobranchia: Panpulmonata: Sacoglossa). Mitochondrial DNA Part B: Resources 2:130-131.
  42. Grosse G, Hilger A, Ludwig M, Reutter H, Lorenzen F, Even G, Holterhus PM, Woelfle J; German GHI Study Group (2017) Targeted resequencing of putative growth-related genes using whole exome sequencing in patients with severe primary IGF-I deficiency. Hormone Research in Paediatrics 88:408-417. PMID: 29073591

  43. Harter P, Hauke J, Heitz F, Reuss A, Kommoss S, Marmé F, Heimbach A, Prieske K, Richters L, Burges A, Neidhardt G, Gregorio N de, El-Balat A, Hilpert F, Meier W, Kimmig R, Kast K, Sehouli J, Baumann K, Jackisch C, Park-Simon T-W, Hanker L, Kröber S, Pfisterer J, Gevensleben H, Schnelzer A, Dietrich D, Neunhöffer T, Krockenberger M,  Brucker SY, Nürnberg P, Thiele H, Altmüller J, Lamla L, Elser G, Bois A du, Hahnen E, Schmutzler R (2017) Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLOS ONE 12: e0186043
  44. Hattingen E, Handke, N Cremer K, Hoffjan S, Kukuk GM (2017) Clinical and imaging presentation of a patient with beta-propeller protein-associated neurodegeneration, a rare and sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA). Clinical Neuroradiology 27:481-483
    .
  45. Heilmann-Heimbach S, Herold C, Hochfeld LM, Hillmer AM, Nyholt DR, Hecker J, Javed A, Chew EG, Pechlivanis S, Drichel D, Heng XT, Del Rosario RC, Fier HL, Paus R, Rueedi R, Galesloot TE, Moebus S, Anhalt T, Prabhakar S, Li R, Kanoni S, Papanikolaou G, Kutalik Z, Deloukas P, Philpott MP, Waeber G, Spector TD, Vollenweider P, Kiemeney LA, Dedoussis G, Richards JB, Nothnagel M, Martin NG, Becker T, Hinds DA, Nöthen MM (2017) Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness. Nature Communications 8:14694. doi: 10.1038. PMID: 28272467

  46. Hibar DP, Adams HH, Jahanshad N, ... , Cavalleri GL, Cheng CY, Cichon S, Cookson MR, Corvin A, Crespo-Facorro B, ... , Montgomery GW, Morris DW, Mosley TH, Mühleisen TW, Müller-Myhsok B, Nalls MA, Nauck M, Nichols TE, Niessen WJ, Nöthen MM, Nyberg L, Ohi K, Olvera RL, ... , Van Duijn CM, Wright MJ, Longstreth WT, Schumann G, Grabe HJ, Franke B, Launer LJ, Medland SE, Seshadri S, Thompson PM, Ikram MA (2017) Novel genetic loci associated with hippocampal volume. Nature Communications 8:13624. doi: 10.1038. PMID:  28098162

  47. Hochfeld LM, Anhalt T, Reinbold CS, Herrera-Rivero M, Fricker N, Nöthen MM, Heilmann-Heimbach S (2017) Expression profiling and bioinformatic analyses suggest new target genes and pathways for human hair follicle related microRNAs. BMC Dermatology 17:3. doi: 10.1186. PMID: 28228108

  48. Hoebel AK, Drichel D, van de Vorst M, Böhmer AC, Sivalingam S, Ishorst N, Klamt J, Gölz L, Alblas M, Maaser A, Keppler K, Zink AM, Dixon MJ, Dixon J, Hemprich A, Kruse T, Graf I, Dunsche A, Schmidt G, Daratsianos N, Nowak S, Aldhorae KA, Nöthen MM, Knapp M, Thiele H, Gilissen C, Reutter H, Hoischen A, Mangold E, Ludwig KU (2017) Candidate genes for nonsyndromic cleft palate detected by exome sequencing. Journal of Dental Research 96:1314-1321. PMID:  28767323

  49. Hölscher AC, Laschat M, Choinitzki V, Zwink N, Jenetzky E, Münsterer O, Kurz R, Pauly M, Brokmeier U, Leutner A, Ure B, Lacher M, Schumacher J, Reutter H, Boemers TM (2017) Quality of life after surgical treatment for esophageal atresia: Long-term outcome of 154 patients. European Journal of Pediatric Surgery 27:443-448. PMID: 28061521

  50. Holzinger ER, Li Q, Parker MM, Hetmanski JB, Marazita ML, Mangold E, Ludwig KU, Taub MA, Begum F, Murray JC, Albacha-Hejazi H, Alqosayer K, Al-Souki G, Albasha Hejazi A, Scott AF, Beaty TH, Bailey-Wilson JE (2017) Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families. Molecular Genetics and Genomic Medicine 5:570-579. PMID: 28944239

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  94. Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ,  …,  Ramirez A, Wang LS, Lambert JC, Seshadri S, Williams J, Schellenberg GD (2017) Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics 49:1373-1384. PMID: 28714976

  95. Soares DC, Stroparo MN, Lian YC, Takakura CY, Wolf S, Betz R, Kim CA (2017) Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. Journal of Inherited Metabolic Diseases 40:461-462. PMID: 27832414

  96. Soellner L, Begemann M, Degenhardt F, Geipel A, Eggermann T, Mangold E (2017) Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring. European Journal of Human Genetics 25:924-929. doi: 10.1038. PMID: 28561018

  97. Spier, I, Aretz S (2017) Overgrowth syndromes caused by mosaic mutations in the PI3K-AKT signaling pathway. Medizinische Genetik 29:306-313.

  98. Steinke-Lange V, Aretz A, Schröck E, Holinski-Feder E (2017) ERN GENTURIS – Europäisches Referenznetzwerk für erbliche Tumorerkrankungen. Medizinische Genetik 29:314-315.

  99. Stieber C, Mücke M, Windheuser IC, Grigull L, Klawonn F, Tunc S, Münchau A, Klockgether T (2017) Kurze Wege zur Diagnose. Eine Handlungsempfehlung für Patienten ohne Diagnose [On the fast track to diagnosis : Recommendations for patients without a diagnosis]. Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz 60:517-522. PMID: 28289775

  100. Stieber C, Cichon S, Magerl M, Nöthen MM (2017) Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1). European Journal of Human Genetics 25, doi: 10.1038/ejhg.2017.104. PMID: 28905884

  101. Sud A, Thomsen H, Law PJ, Försti A, Filho MIDS, Holroyd A, Broderick P, Orlando G, Lenive O, Wright L, Cooke R, Easton D, Pharoah P, Dunning A, Peto J, Canzian F, Eeles R, Kote-Jarai Z, Muir K, Pashayan N; PRACTICAL consortium, Hoffmann P, Nöthen MM, Jöckel KH, Strandmann EPV, Lightfoot T, Kane E, Roman E, Lake A, Montgomery D, Jarrett RF, Swerdlow AJ, Engert A, Orr N, Hemminki K, Houlston RS (2017) Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility. Nature Communications 8:1892. doi: 10.1038/s41467-017-00320-1. PMID: 29196614

  102. Suzuki K, Matsumaru D, Matsushita S, Murashima A, Ludwig M, Reutter H, Yamada G (2017) Epispadias and the associated embryopathies: genetic and developmental basis. Clinical Genetics 91:247-253. Review. PMID: 27649475

  103. Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R (2017) Hypomorphic pathogenic variants in TAF13 are associated with autosomal-recessive intellectual disability and microcephaly. American Journal of Human Genetics 100:555-561. PMID:  28257693

  104. Telomeres Mendelian Randomization Collaboration [Betz RC] (2017) Association between telomere length and risk of cancer and non-neoplastic diseases. A mendelian randomization study. JAMA Oncology 3:636-651. PMID: 28241208

  105. Thieme F, Ludwig KU (2017) The role of noncoding genetic variation in isolated orofacial clefts. Journal of Dental Research 96:1238-1247. Review. PMID: 28732180

  106. Thomsen H, Campo C, Weinhold N, da Silva Filho MI, Pour L, Gregora E, Vodicka P, Vodickova L, Hoffmann P, Nöthen MM, Jöckel KH, Langer C, Hajek R, Goldschmidt H, Hemminki K, Försti A (2017) Genomewide association study on monoclonal gammopathy of unknown significance (MGUS). European Journal of Haematology 99:70-79. PMID:  28375557

  107. Treutlein J, Frank J, Streit F, Reinbold CS, Juraeva D, Degenhardt F, Rietschel L, Witt SH, Forstner AJ, Ridinger M, Strohmaier J, Wodarz N, Dukal H, Foo JC, Hoffmann P, Herms S, Heilmann-Heimbach S, Soyka M, Maier W, Gaebel W, Dahmen N, Scherbaum N, Müller-Myhsok B, Lucae S, Ising M, Stickel F, Berg T, Roggenbuck U, Jöckel KH, Scholz H, Zimmermann US, Buch S, Sommer WH, Spanagel R, Brors B, Cichon S, Mann K, Kiefer F, Hampe J, Rosendahl J, Nöthen MM, Rietschel M (2017) Genetic contribution to alcohol dependence: Investigation of a heterogeneous German sample of individuals with alcohol dependence, chronic alcoholic pancreatitis, and alcohol-related cirrhosis. Genes (Basel) 8:183. doi: 10.3390. PMID: 28714907

  108. Treutlein J, Strohmaier J, Frank J, Witt SH, Rietschel L, Forstner AJ, Lang M, Degenhardt F, Dukal H, Herms S, Streit F, Hoffmann P, Cichon S, Nöthen MM, Rietschel M (2017) Association between neuropeptide Y receptor Y2 promoter variant rs6857715 and major depressive disorder. Psychiatric Genetics 27:34-37. PMID: 27584037

  109. Tsoi LC, Stuart PE, Tian C, Gudjonsson JE, Das S, Zawistowski M, Ellinghaus E, Barker JN, Chandran V, Dand N, Duffin KC, Enerbäck C, Esko T, Franke A, Gladman DD, Hoffmann P, Kingo K, Kõks S, Krueger GG, Lim HW, Metspalu A, Mrowietz U, Mucha S, Rahman P, Reis A, Tejasvi T, Trembath R, Voorhees JJ, Weidinger S, Weichenthal M, Wen X, Eriksson N, Kang HM, Hinds DA, Nair RP, Abecasis GR, Elder JT (2017) Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. Nature Communications 8:15382. doi: 10.1038/ncomms15382. PMID: 28537254

  110. van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S (2017) TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Human Mutation 38:297-309. PMID: 28008748

  111. Vijayakrishnan J, Kumar R, Henrion MY, Moorman AV, Rachakonda PS, Hosen I, da Silva Filho MI, Holroyd A, Dobbins SE, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson PD, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Jöckel KH, Greaves M, Harrison CJ, Bartram CR, Schrappe M, Stanulla M, Hemminki K, Houlston RS (2017) A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1. Leukemia 31:573-579. PMID: 27694927

  112. Webb TR, Erdmann J, Stirrups KE, Stitziel NO, Masca NG, Jansen H, Kanoni S, Nelson CP, Ferrario PG, König IR, Eicher JD, Johnson AD, Hamby SE, Betsholtz C, Ruusalepp A, Franzén O, Schadt EE, Björkegren JL, Weeke PE, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kruppa J, Mahajan A, Scott RA, Willenborg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA, Duga S, Marziliano N, Denny JC, Shaffer C, El-Mokhtari NE, Franke A, Heilmann S, Hengstenberg C, Hoffmann P, Holmen OL, Hveem K, Jansson JH, ... , Schunkert H, Deloukas P, Kathiresan S; Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators (2017) Systematic evaluation of pleiotropy identifies 6 further loci associated with coronary artery disease. Journal of the American Coll Cardiol 69:823-836. PMID: 28209224

  113. Went M, Sud A, Law PJ, Johnson DC, Weinhold N, Försti A, van Duin M, Mitchell JS, Chen B, Kuiper R, Stephens OW, Bertsch U, Campo C, Einsele H, Gregory WM, Henrion M, Hillengass J, Hoffmann P, Jackson GH, Lenive O, Nickel J, Nöthen MM, da Silva Filho MI, Thomsen H, Walker BA, Broyl A, Davies FE, Langer C, Hansson M, Kaiser M, Sonneveld P, Goldschmidt H, Hemminki K, Nilsson B, Morgan GJ, Houlston RS (2017) Assessing the effect of obesity-related traits on multiple myeloma using a Mendelian randomisation approach. Blood Cancer Journal 7:e573. doi: 10.1038. PMID:  28622301

  114. Wirz S, Hertfelder HJ, Seidel H, Homann J, Molderings GJ (2017) Lower prevalence of vitamin D insufficiency in German patients with systemic mast cell activation syndrome compared with the general population. Zeitschrift für Gastroenterologie 55:1297-1306. PMID: 29212100

  115. Wirz S, Molderings GJ (2017) A practical guide for treatment of pain in patients with systemic mast cell activation disease. Literature Review. Pain Physician 20:E849-E861. PMID: 28934791

  116. Witt SH, Streit F, Jungkunz M, Frank J, Awasthi S, Reinbold CS, Treutlein J, Degenhardt F, Forstner AJ, Heilmann-Heimbach S, Dietl L, Schwarze CE, Schendel D, Strohmaier J, Abdellaoui A, Adolfsson R, Air TM, Akil H, Alda M, Alliey-Rodriguez N, Andreassen OA, Babadjanova G, Bass NJ, Bauer M, Baune BT, Bellivier F, Bergen S, Bethell A, Biernacka JM, Blackwood DHR, Boks MP, Boomsma DI, Børglum AD, Borrmann-Hassenbach M, Brennan P, Budde M, Buttenschøn HN, Byrne EM, Cervantes P, Clarke TK, Craddock N, Cruceanu C, Curtis D, Czerski PM, Dannlowski U, Davis T, de Geus EJC, Di Florio A, Djurovic S, Domenici E, Edenberg HJ, Etain B, Fischer SB, Forty L, Fraser C, Frye MA, Fullerton JM, Gade K, Gershon ES, Giegling I, Gordon SD, Gordon-Smith K, Grabe HJ, Green EK, Greenwood TA, Grigoroiu-Serbanescu M, Guzman-Parra J, Hall LS, Hamshere M, Hauser J, Hautzinger M, Heilbronner U, Herms S, Hitturlingappa S, Hoffmann P, Holmans P, Hottenga JJ, Jamain S, ... , Willemsen G, Witt CC, Wray NR, Xi HS; Bipolar Disorders Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Tadic A, Dahmen N, Schott BH, Cichon S, Nöthen MM, Ripke S, Mobascher A, Rujescu D, Lieb K, Roepke S, Schmahl C, Bohus M, Rietschel M. (2017) Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia. Translational Psychiatry 7:e1155. doi: 10.1038. PMID:  28632202

  117. Xiao X, Wang L, Wang C, Yuan TF, Zhou D, Zheng F, Li L, Grigoroiu-Serbanescu M, Ikeda M, Iwata N, Takahashi A, Kamatani Y, Kubo M, Preisig M, Kutalik Z, Castelao E, Pistis G, Amin N, van Duijn CM, Forstner AJ, Strohmaier J, Hecker J, Schulze TG, Müller-Myhsok B, Reif A, Mitchell PB, Martin NG, Schofield PR, Cichon S, Nöthen MM, Chang H, Luo XJ, Fang Y, Yao YG, Zhang C, Rietschel M, Li M; Advanced Collaborative Study of Mood Disorder (COSMO) Team, MooDS Bipolar Consortium (2017) Common variants at 2q11.2, 8q21.3, and 11q13.2 are associated with major mood disorders. Translational Psychiatry 7:1273. doi: 10.1038/s41398-017-0019-0. PMID: 29225345

  118. Yu Y, Zuo X, He M, Gao J, Fu Y, Qin C, Meng L, Wang W, Song Y, Cheng Y, Zhou F, Chen G, Zheng X, Wang X, Liang B, Zhu Z, Fu X, Sheng Y, Hao J, Liu Z, Yan H, Mangold E, Ruczinski I, Liu J, Marazita ML, Ludwig KU, Beaty TH, Zhang X, Sun L, Bian Z (2017) Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. Nature Communications 8:14364. doi: 10.1038. PMID: 28232668

  119. Yüksel D, Dietsche B, Forstner AJ, Witt SH, Maier R, Rietschel M, Konrad C, Nöthen MM, Dannlowski U, Baune BT, Kircher T, Krug A (2017) Polygenic risk for depression and the neural correlates of working memory in healthy subjects. Progress in Neuro-Psychopharmacology and Biological Psychiatry 79:67-76. PMID: 28624581

  120. Zeng Y, Navarro P, Shirali M, Howard DM, Adams MJ, Hall LS, Clarke TK, Thomson PA, Smith BH, Murray A, Padmanabhan S, Hayward C, Boutin T, MacIntyre DJ, Lewis CM, Wray NR, Mehta D, Penninx BWJH, Milaneschi Y, Baune BT, Air T, Hottenga JJ, Mbarek H, Castelao E, Pistis G, Schulze TG, Streit F, Forstner AJ, Byrne EM, Martin NG, Breen G, Müller-Myhsok B, Lucae S, Kloiber S, Domenici E; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Deary IJ, Porteous DJ, Haley CS, McIntosh AM (2017) Genome-wide regional heritability mapping identifies a locus within the TOX2 gene associated with major depressive disorder. Biological Psychiatry 82:312-321. PMID: 28153336

  121. Zhang R, Knapp M, Kause F, Reutter H, Ludwig M (2017) Role of the LF-SINE-derived distal ISL1 enhancer in patients with classic bladder exstrophy. Journal of Pediatric Genetics:169-173. PMID: 28794909

  122. Zhang R*, Knapp M*, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz Ö, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, Cervellione RM, Cheng W, Wilkins S, Gearhart JP, Sirchia F, Di Grazia M, Ebert AK, Rösch W, Ellinger J, Jenetzky E, Zwink N, Feitz WF, Marcelis C, Schumacher J, Martinón-Torres F, Hibberd ML, Khor CC, Heilmann-Heimbach S, Barth S, Boyadjiev SA, Brusco A, Ludwig M, Newman W, Nordenskjöld A, Yamada G, Odermatt B, Reutter H (2017) ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. Scientific Reports 7:42170. doi: 10.1038/srep42170. PMID: 28176844. *These authors contributed equally to this work.

  123. Zhang R, Marsch F, Kause F, Degenhardt F, Schmiedeke E, Märzheuser S, Hoppe B, Bachour H, Boemers TM, Schäfer M, Spychalski N, Neser J, Leonhardt J, Kosch F, Ure B, Gómez B, Lacher M, Deffaa OJ, Palta M, Wittekindt B, Kleine K, Schmedding A, Grasshoff-Derr S, Ven AV, Heilmann-Heimbach S, Zwink N, Jenetzky E, Ludwig M, Reutter H (2017) Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations. Birth Defects Research 109:1063-1069. PMID: 28605140

 

Übersichtsarbeiten / Bücher / Kommentare 2017

 

  1. Behrend C, Hagh, JK, Mehdipour P, Schwanitz G (2017) Human chromosome atlas. Springer, 2017

  2. Betz RC (2017) A path through the reticulate pigmentation disorder jungle. British Journal of Dermatology 177:893-894. Commentary. PMID: 29052871

  3. Sachs B, Steffens M, Stinl J, Nöthen M, Stieber C (2017) Forschungsprojekt zu Arzneimittel-assoziierten Bradykinin-vermittelten Angioödemen. Bulletin zur Arzneimittelsicherheit  Ausgabe 2, 32-35

  4. Schwanitz G, Rittner G, Kalz L (2017) The relevance of genetic factors in tumor therapy and the underlying pharmacogenetic principles. In: Mehdipour P (ed.): Cancer genetics and psychotherapy. Springer 2017

  5. Schumacher J (2017) Familiäre Magenkarzinome. In: Kreis M, Seeliger H (Hrsg.) Moderne Chirurgie des Magen- und Kardiakarzinoms. S. 21-27, Springer 2017

 

 

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