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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.  
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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.
  37. 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. 
  38. 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.
  39. 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
  40. 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
  41. 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
  42. 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.
  43. 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
  44. 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
  45. 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
    .
  46. 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
  47. 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
  48. 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
  49. 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
  50. 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
  51. 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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  110. 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
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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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