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Publikationen 2019

Wissenschaftliche Originalarbeiten 2019

  1. Al-Zahrani HS, Al-Tala S, Mohamoud HSA, Al-Shehri BA, Al-Fadhel S, Al-Qurashi A, Al-Bishri A, Al-Aama JY, Kang C, Betz RC, Jelani M (2019) Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia. Congenital Anomalies (Kyoto) 59:99-101. PMID: 29900604
  2. An J, Gharahkhani P, Law MH, Ong JS, Han X, Olsen CM, Neale RE, Lai J, Vaughan TL, Gockel I, Thieme R, Böhmer AC, Jankowski J, Fitzgerald RC, Schumacher J, Palles C; BEACON; 23andMe Research Team, Whiteman DC, MacGregor S (2019) Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases. Nature Communications 10(1):4219. doi: 10.1038/s41467-019-11968-2. Erratum in: Nat Commun. 2019 Dec 4;10(1):5617. PMID: 31527586
  3. Anderson-Schmidt H, Gade K, Malzahn D, Papiol S, Budde M, Heilbronner U, Reich-Erkelenz D, Adorjan K, Kalman JL, Senner F, Comes AL, Flatau L, Gryaznova A, Hake M, Reitt M, Schmauß M, Juckel G, Reimer J, Zimmermann J, Figge C, Reininghaus E, Anghelescu IG, Konrad C, Thiel A, von Hagen M, Koller M, Stierl S, Scherk H, Spitzer C, Folkerts H, Becker T, Dietrich DE, Andlauer TFM, Degenhardt F, Nöthen MM, Witt SH, Rietschel M, Wiltfang J, Falkai P, Schulze TG(2019) The influence of religious activity and polygenic schizophrenia risk on religious delusions in schizophrenia. Schizophrenia Research 210:255-261. PMID:  30611655
  4. Arnau-Soler A, Macdonald-Dunlop E, Adams MJ, Clarke TK, MacIntyre DJ, Milburn K, Navrady L; Generation Scotland; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium [Degenhardt F, Forstner AJ, Herms S, Hoffmann P, Nöthen MM], Hayward C, McIntosh AM, Thomson PA (2019) Genome-wide by environment interaction studies of depressive symptoms and psychosocial stress in UK Biobank and Generation Scotland. Translational Psychiatry 2019 Feb 4;9(1):14. doi: 10.1038/s41398-018-0360-y. PMID: 30718454
  5. Atkins I, Kinnersley B, Ostrom QT, Labreche K, Il’yasova D, Armstrong GN, Eckel-Passow JE, Schoemaker MJ, Nöthen MM, Barnholtz-Sloan JS, Swerdlow AJ, Simon M, Rajaraman P, Chanock SJ, Shildkraut J, Bernstein JL, Hoffmann P, Jöckel KH, Lai RK, Claus EB, Olson SH, Johansen C, Wrensch MR, Melin B, Jenkins RB, Sanson M, Bondy ML, Houlston RS (2019) Transcriptome-wide association study identifies new candidate susceptibility genes for glioma. Cancer Research 79:2065-2071. PMID:  30709929
  6. Bamborschke D, Pergande M, Daimagüler HS, Mangold E, Dötsch J, Herkenrath P, Cirak S, Fazeli W (2019) Cleft palate as distinguishing feature in a patient with GABRB3 epileptic encephalopathy. Neuropediatrics 50:378-381. PMID:  31319422
  7. Barbu MC, Zeng Y, Shen X, Cox SR, Clarke TK, Gibson J, Adams MJ, Johnstone M, Haley CS, Lawrie SM, Deary IJ; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium [Degenhardt F, Forstner AJ,Herms S,  Hoffmann P, Nöthen MM]; 23andMe Research Team, McIntosh AM, Whalley HC (2019) Association of whole-genome and NETRIN1 signaling pathway-derived polygenic risk scores for major depressive disorder nd white matter microstructure in the UK biobank. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging 4:91-100. PMID: 30197049
  8. Betz RC (2019) Novel mutation for disseminated superficial actinic porokeratosis and its functional impact at the protein level. British Journal of Dermatology 181:241. doi: 10.1111/bjd.18139. Epub 2019 Jul 24. No abstract available. Editorial Material. PMID: 31340066
  9. Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P (2019) Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases. Clinical & Experimental Ophthalmology 47:779-786. PMID: 30977268
  10. Budde M, Anderson-Schmidt H, Gade K, Reich-Erkelenz D, …, Degenhardt F, Forstner AJ, Rietschel M, Nöthen MM, Falkai P, Schulze TG, Heilbronner U (2019) A longitudinal approach to biological psychiatric research: The PsyCourse study. American Journal of Medical Genetics B Neuropsychiatric Genetics 180:89-102. PMID:  30070057
  11. Budde M, Friedrichs S, Alliey-Rodriguez N, Ament S, Badner JA, Berrettini WH, Bloss CS, Byerley W, Cichon S, Comes AL, Coryell W, Craig DW, Degenhardt F, Edenberg HJ, Foroud T, Forstner AJ, Frank J, Gershon ES, Goes FS, Greenwood TA, Guo Y, Hipolito M, Hood L, Keating BJ, Koller DL, Lawson WB, Liu C, Mahon PB, McInnis MG, McMahon FJ, Meier SM, Mühleisen TW, Murray SS, Nievergelt CM, Nurnberger JI Jr, Nwulia EA, Potash JB, Quarless D, Rice J, Roach JC, Scheftner WA, Schork NJ, Shekhtman T, Shilling PD, Smith EN, Streit F, Strohmaier J, Szelinger S, Treutlein J, Witt SH, Zandi PP, Zhang P, Zöllner S, Bickeböller H, Falkai PG, Kelsoe JR, Nöthen MM, Rietschel M, Schulze TG, Malzahn D (2019) Efficient region-based test strategy uncovers genetic risk factors for functional outcome in bipolar disorder. European Neuropsychopharmacology 29:156-170. PMID: 30503783
  12. Budde MK, Kuhn W, Keyver-Paik MD, Bootz F, Kalff JC, Müller SC, Bieber T, Brossart P, Vatter H, Herrlinger U, Wirtz DC, Schild HH, Kristiansen G, Pietsch T, Aretz S, Geiser F, Radbruch L, Reich RH, Strassburg CP, Skowasch D, Essler M, Ernstmann N, Landsberg J, Funke B, Schmidt-Wolf IGH (2019) A matched-pair analysis on survival and response rates between German and non-German cancer patients treated at a Comprehensive Cancer Center. BMC Cancer. 2019 Oct 30;19(1):1024. doi: 10.1186/s12885-019-6241-9. PMID: 31666035
  13. Buerfent BC, Gölz L, Hofmann A, Rühl H, Stamminger W, Fricker N, Hess T, Oldenburg J, Nöthen MM, Schumacher J, Hübner MP, Hoerauf A (2019) Transcriptome-wide analysis of filarial extract-primed human monocytes reveal changes in LPS-induced PTX3 expression levels. Scientific Reports. 2019 Feb 22;9(1):2562. doi: 10.1038/s41598-019-38985-x. PMID: 30796272
  14. Castven D, Becker D, Czauderna C, Wilhelm D, Andersen JB, Strand S, Hartmann M, Heilmann-Heimbach S, Roth W, Hartmann N, Straub BK, Mahn FL, Franck S, Pereira S, Haupts A, Vogel A, Wörns MA, Weinmann A, Heinrich S, Lang H, Thorgeirsson SS, Galle PR, Marquardt JU (2019) Application of patient-derived liver cancer cells for phenotypic characterization and therapeutic target identification. International Journal of Cancer 144:2782-2794. PMID: 30485423
  15. Charbel Issa P, Gliem M, Yusuf IH, Birtel J, Müller PL, Mangold E, Downes SM, MacLaren RE, Betz C, Bolz HJ (2019) A specific macula-predominant retinal phenotype is associated with the CDHR1 variant c.783G>A, a silent mutation leading to in-frame exon skipping. Investigative Ophthalmology & Visual Science 2019 Aug 1;60(10):3388-3397. doi: 10.1167/iovs.18-26415. PMID: 31387115
  16. Chattopadhyay S, Thomsen H, Yadav P, da Silva Filho MI, Weinhold N, Nöthen MM, Hoffman P, Bertsch U, Huhn S, Morgan GJ, Goldschmidt H, Houlston R, Hemminki K, Försti A (2019) Genome-wide interaction and pathway-based identification of key regulators in multiple myeloma. Communications Biology 2019 Mar 4;2:89. doi: 10.1038/s42003-019-0329-2. eCollection 2019. PMID: 30854481
  17. Choi KW, Chen CY, Stein MB, Klimentidis YC, Wang MJ, Koenen KC, Smoller JW; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium [Degenhardt F, Forstner AJ, Herms S, Hoffmann P, Nöthen MM] (2019) Assessment of bidirectional relationships between physical activity and depression among adults: A 2-sample mendelian randomization study (2019) JAMA Psychiatry 76:399-408. PMID: 30673066
  18. Comes AL, Senner F, Budde M, Adorjan K, Anderson-Schmidt H, Andlauer TFM, Gade K, Hake M, Heilbronner U, Kalman JL, Reich-Erkelenz D, Klöhn-Saghatolislam F, Schaupp SK, Schulte EC, Juckel G, Dannlowski U, Schmauß M, Zimmermann J, Reimer J, Reininghaus E, Anghelescu IG, Arolt V, Baune BT, Konrad C, Thiel A, Fallgatter AJ, Nieratschker V, Figge C, von Hagen M, Koller M, Becker T, Wigand ME, Jäger M, Dietrich DE, Stierl S, Scherk H, Spitzer C, Folkerts H, Witt SH, Degenhardt F, Forstner AJ, Rietschel M, Nöthen MM, Wiltfang J, Falkai P, Schulze TG, Papiol S (2019) The genetic relationship between educational attainment and cognitive performance in major psychiatric disorders. Translational Psychiatry 9:210. PMID: 31462630
  19. Cross-Disorder Group of the Psychiatric Genomics Consortium [MN] (2019) Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders. Cell 179(7):1469-1482. PMID: 31835028
  20. Czamara D, Eraslan G, Page CM, Lahti J, Lahti-Pulkkinen M, Hämäläinen E, Kajantie E, Laivuori H, Villa PM, Reynolds RM, Nystad W, Håberg SE, London SJ, O’Donnell KJ, Garg E, Meaney MJ, Entringer S, Wadhwa PD, Buss C, Jones MJ, Lin DTS, MacIsaac JL, Kobor MS, Koen N, Zar HJ, Koenen KC, Dalvie S, Stein DJ, Kondofersky I, Müller NS, Theis FJ; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium [Degenhard F, Forstner, AJ, Herms S, Hoffmann P, Nöthen MM], Räikkönen K, Binder EB (2019) Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns. Nature Communications Jun 11;10(1):2548. doi: 10.1038/s41467-019-10461-0. PMID: 31186427
  21. Dalmasso MC, Brusco LI, Olivar N, Muchnik C, Hanses C, Milz E, Becker J, Heilmann-Heimbach S, Hoffmann P, Prestia FA, Galeano P, Avalos MSS, Martinez LE, Carulla ME, Azurmendi PJ, Liberczuk C, Fezza C, Sampaño M, Fierens M, Jemar G, Solis P, Medel N, Lisso J, Sevillano Z, Bosco P, Bossù P, Spalletta G, Galimberti D, Mancuso M, Nacmias B, Sorbi S, Mecocci P, Pilotto A, Caffarra P, Panza F, Bullido M, Clarimon J, Sánchez-Juan P, Coto E, Sanchez-Garcia F, Graff C, Ingelsson M, Bellenguez C, Castaño EM, Kairiyama C, Politis DG, Kochen S, Scaro H, Maier W, Jessen F, Mangone CA, Lambert JC, Morelli L, Ramirez A (2019) Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease. Translstional Psychiatry 2019 Jan 31;9(1):55. doi: 10.1038/s41398-019-0394-9. PMID: 30705288
  22. Döhla M, Leichauer K, Gockel I, Niebisch S, Thieme R, Lundell L, Schumacher J, Becker J, Rieker RJ, Hartmann A, Vieth M, Veits L (2019) Characterization of esophageal inflammation in patients with achalasia. A retrospective immunohistochemical study. Human Pathology 85:228-234. PMID: 30502378
  23. Dong J, Gharahkhani P, Chow WH, Gammon MD, Liu G, Caldas C, Wu AH, Ye W, Onstad L, Anderson LA, Bernstein L, Pharoah PD, Risch HA, Corley DA, Fitzgerald RC; Stomach and Esophageal Cancer Study Consortium, Iyer PG, Reid BJ, Lagergren J, Shaheen NJ, Vaughan TL, MacGregor S, Love S, Palles C, Tomlinson I, Gockel I, May A, Gerges C, Anders M, Böhmer AC, Becker J, Kreuser N, Thieme R, Noder T, Venerito M, Veits L, Schmidt T, Schmidt C, Izbicki JR, Hölscher AH, Lang H, Lorenz D, Schumacher B, Mayershofer R, Vashist Y, Ott K, Vieth M, Weismüller J, Nöthen MM, Moebus S, Knapp M, Peters WHM, Neuhaus H, Rösch T, Ell C, Jankowski J, Schumacher J, Neale RE, Whiteman DC, Thrift AP (2019) No association between Vitamin D status and risk of Barrett’s esophagus or esophageal adenocarcinoma: A mendelian randomization study. Clinical Gastroenterology and Hepatology 17:2227-2235. PMID: 30716477
  24. Drange OK, Smeland OB, Shadrin AA, Finseth PI, Witoelar A, Frei O; Psychiatric Genomics Consortium Bipolar Disorder Working Group [Degenhardt F, Forstner AJ, Hoffmann P, Nöthen MM], Wang Y, Hassani S, Djurovic S, Dale AM, Andreassen OA (2019) Genetic overlap between Alzheimer’s disease and bipolar disorder implicates the MARK2 and VAC14 genes. Frontiers in Neuroscience 13:220. doi: 10.3389/fnins.2019.00220. PMID: 30930738
  25. Dworschak GC, Reutter H, Hilger AC (2019) Expanding the knowledge on development of CAKUT: molecular genetics and beyond. Annals of Translational Medicine 7:596. doi: 10.21037/atm.2019.09.157. No abstract available. PMID: 31807577
  26. Ebert AK, Zwink N, Jenetzky E, Stein R, Boemers TM, Lacher M, Fortmann C, Obermayr F, Fisch M, Mortazawi K, Schmiedeke E, Eisenschmidt V, Schäfer M, Hirsch K, Rösch WH, Reutter H (2019) Association between exstrophy-epispadias complex and congenital anomalies: A German multicenter study. Urology 123:210-220. PMID: 30076940
  27. Fard MAF, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA (2019) Truncating mutations in UBAP1 cause hereditary spastic paraplegia. American Journal of Human Genetics 104:767-773. Erratum in: Am J Hum Genet. 2019 Jun 6;104(6):1251. PMID: 30929741
  28. Foo JC, Streit F, Frank J, Witt SH, Treutlein J; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium [Degenhard F, Forstner, AJ, Herms S, Hoffmann P, Nöthen MM], Baune BT, Moebus S, Jöckel KH, Forstner AJ, Nöthen MM, Rietschel M, Sartorius A, Kranaster L (2019) Evidence for increased genetic risk load for major depression in patients assigned to electroconvulsive therapy. American Journal of Medical Genetics B Neuropsychiatric Genetics 180:35-45. PMID: 30507021
  29. Frank M, Dragano N, Arendt M, Forstner AJ, Nöthen MM, Moebus S, Erbel R, Jöckel KH, Schmidt B (2019) A genetic sum score of risk alleles associated with body mass index interacts with socioeconomic position in the Heinz Nixdorf Recall Study. PLoS One 14:e0221252. PMID: 31442235
  30. Gallon R, Mühlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K (2019) A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Human Mutation 40:649-655. PMID: 30740824
  31. Gialluisi A, Andlauer TFM, Mirza-Schreiber N, Moll K, Becker J, Hoffmann P, Ludwig KU, Czamara D, St Pourcain B, Brandler W, Honbolygó F, Tóth D, Csépe V, Huguet G, Morris AP, Hulslander J, Willcutt EG, DeFries JC, Olson RK, Smith SD, Pennington BF, Vaessen A, Maurer U, Lyytinen H, Peyrard-Janvid M, Leppänen PHT, Brandeis D, Bonte M, Stein JF, Talcott JB, Fauchereau F, Wilcke A, Francks C, Bourgeron T, Monaco AP, Ramus F, Landerl K, Kere J, Scerri TS, Paracchini S, Fisher SE, Schumacher J, Nöthen MM, Müller-Myhsok B, Schulte-Körne G (2019) Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. Translational Psychiatry 9(1):77. doi: 10.1038/s41398-019-0402-0. PMID: 30741946
  32. Gliem C, Minnerop M, Roeske S, Gärtner H, Schoene-Bake JC, Adler S, Witt JA, Hoffstaedter F, Schneider-Gold C, Betz RC, Helmstaedter C, Tittgemeyer M, Amunts K, Klockgether T, Weber B, Kornblum C (2019) Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study. PLoS One. 2019 Mar 7;14(3):e0213381. doi: 10.1371/journal.pone.0213381. eCollection 2019. PMID: 30845252
  33. Goltermann J, Redlich R, Dohm K, Zaremba D, Repple J, Kaehler C, Grotegerd D, Förster K, Meinert S, Enneking V, Schlaghecken E, Fleischer L, Hahn T, Kugel H, Jansen A, Krug A, Brosch K, Nenadic I, Schmitt S, Stein F, Meller T, Yüksel D, Fischer E, Rietschel M, Witt SH, Forstner AJ, Nöthen MM, Kircher T, Thalamuthu A, Baune BT, Dannlowski U, Opel N (2019) Apolipoprotein E homozygous ε4 allele status: A deteriorating effect on visuospatial working memory and global brain structure. Frontiers in Neurology May 27;10:552. doi: 10.3389/fneur.2019.00552. PMID: 31191441
  34. Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP (2019) Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype (2019) Cancer Cell 35:256-266.e5. doi: 10.1016/j.ccell.2018.12.011. PMID: 30753826
  35. Grove J, Ripke S, Als TD, Mattheisen M, … , Xu X; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; BUPGEN; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium [Degenhard F, Forstner, AJ, Herms S, Hoffmann P, Nöthen MM]; 23andMe Research Team, Stefansson K, Geschwind DH, Nordentoft M, Hougaard DM, Werge T, Mors O, Mortensen PB, Neale BM, Daly MJ, Børglum AD (2019) Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics 51:431-444. PMID: 30804558
  36. Haertle L, Müller T, Lardenoije R, Maierhofer A, Dittrich M, Riemens RJM, Stora S, Roche M, Leber M, Riedel-Heller S, Wagner M, Scherer M, Ravel A, Mircher C, Cieuta-Walti C, Durand S, van de Hove DLA, Hoffmann P, Ramirez A, Haaf T, El Hajj N, Mégarbané A (2019) Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer’s disease-related dysregulation. Clinical Epigenetics 2019 Dec 16;11(1):195. doi: 10.1186/s13148-019-0787-x. PMID: 31843015
  37. Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Heimbach A, Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N, Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C, Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P (2019) Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883). Journal of Medical Genetics 56:574-580. PMID: 30979843
  38. Henn J*, Spier I*, Adam RS, Holzapfel S, Uhlhaas S, Kayser K, Plotz G, Peters S, Aretz S (2019) Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes. Hereditary Cancer in Clinical Practice Jan 23;17:5. doi: 10.1186/s13053-018-0102-4. eCollection 2019. PMID: 30680046. *These authors contributed equally to this work.
  39. Hermasch MA, Schön MP, Betz RC, Frank J (2019) Zwei Frauen mit Haarverlust [Two females with hair loss] (2019) Journal oft the German Society of Dermatology [Deutsche Dermatologische Gesellschaft] 2019 Aug;17(8):845-847. doi: 10.1111/ddg.13886_g. PMID: 31437369
  40. Hochfeld LM, Keller A, Anhalt T, Fricker N; Meta-analysis for Androgenetic Alopecia Novel determinants (MAAN) Consortium, Nöthen MM, Heilmann-Heimbach S (2019) Insights into male androgenetic alopecia: differential gene expression profiling of plucked hair follicles and integration with genetic data. Journal of Investigative Dermatology 39:235-238. PMID: 30009830
  41. Howe LJ, Richardson TG, Arathimos R, Alvizi L, Passos-Bueno MR, Stanier P, Nohr E, Ludwig KU, Mangold E, Knapp M, Stergiakouli E, Pourcain BS, Smith GD, Sandy J, Relton CL, Lewis SJ, Hemani G, Sharp GC (2019) Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate. Epigenomics 11:133-145. PMID: 30638414
  42. Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, … , Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM (2019) PEDIA: prioritization of exome data by image analysis. Genetic Medicine 21:2807-2814. PMID: 31164752
  43. Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S; CommonMind Consortium; The Schizophrenia Working Group of the Psychiatric Genomics Consortium [Degenhard F, Herms S, Hofmann A, Hoffmann P, Nöthen MM]; iPSYCH-GEMS Schizophrenia Working Group, Demontis D, Børglum AD, Walters JTR, O’Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA (2019) Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nature Genetics 51:659-674. Erratum in: Nature Genetics 2019 Jun;51(6):1068. PMID: 30911161
    Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nature Genetics Jun;51(6):1068. doi: 10.1038/s41588-019-0435-6. PMID: 31086353
  44. Ijaz A, Wolf S, Mandukhail SR, Basit S, Betz RC*, Wali A* (2019) UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan. Journal of Dermatological Science 95:113-118. PMID: 31421932. *These authors contributed equally.
  45. Jamil MA, Sharma A, Nuesgen N, Pezeshkpoor B, Heimbach A, Pavlova A, Oldenburg J, El-Maarri O (2019) F8 inversions at Xq28 causing hemophilia A are associated with specific methylation changes: implication for molecular epigenetic diagnosis. Frontiers in Genetics 2019 May 29;10:508. doi: 10.3389/fgene.2019.00508. eCollection 2019. PMID: 31191618
  46. Kalman JL, Papiol S, Forstner AJ, Heilbronner U, Degenhardt F, Strohmaier J, …,  Frisen L, Frye MA, Fullerton JM, Gade K, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Gryaznova A, Hake M, Hauser J, Herms S, Hoffmann P, Hou L, Jäger M, Jamain S, Jiménez E, …, Witt S, Wright A, Zandi PP, Zimmermann J, Nöthen M, Rietschel M, Schulze TG (2019) Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study. Bipolar Disorders 2019 Feb;21(1):68-75. doi: 10.1111/bdi.12659. Epub 2018 Jun 28. PMID 29956436
  47. Kause F, Zhang R, Ludwig M, Schmiedeke E, Rissmann A, Thiele H, Altmueller J, Herms S, Hilger AC, Hildebrandt F, Reutter H (2019) HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Research 111:591-597. PMID: 30887706
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  91. van de Putte R, Wijers CHW, Reutter H, Vermeulen SH, Marcelis CLM, Brosens E, Broens PMA, Homberg M, Ludwig M, Jenetzky E, Zwink N, Sloots CEJ, de Klein A, Brooks AS, Hofstra RMW, Holsink SAC, van der Zanden LFM, Galesloot TE, Tam PK, Steehouwer M, Acuna-Hidalgo R, Vorst MV, Kiemeney LA, Garcia-Barceló MM, de Blaauw I, Brunner HG, Roeleveld N, van Rooij IALM (2019) Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. PLoS One 14:e0217477. doi: 10.1371/journal.pone.0217477. eCollection 2019. PMID: 31136621
  92. van Rooij IA, Ludwig KU, Welzenbach J, Ishorst N, Thonissen M, Galesloot TE, Ongkosuwito E, Bergé SJ, Aldhorae K, Rojas-Martinez A, Kiemeney LA, Vermeesch JR, Brunner H, Roeleveld N, Devriendt K, Dormaar T, Hens G, Knapp M, Carels C, Mangold E (2019) Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene. Genes (Basel) 2019 Dec 7;10(12). pii: E1023. doi: 10.3390/genes10121023. PMID: 31817908. *These authors contributed equally to this work.
  93. Vos JR, Giepmans L, Röhl C, Geverink N, Hoogerbrugge N; ERN GENTURIS [Aretz S, Spier I] (2019) Boosting care and knowledge about hereditary cancer: European reference network on genetic tumour risk syndromes. Familial Cancer 18:281-284. PMID:  30302652
  94. Walton E, Hibar D, Yilmaz Z, Jahanshad N, Cheung J, Batury VL, Seitz J, Bulik CM; PGC-ED; ENIGMA Genetics Working Group [Nöthen MM], Thompson PM, Ehrlich S (2019) Exploration of shared genetic architecture between subcortical brain volumes and anorexia nervosa. Molecular Neurobiology 56:5146-5156. PMID: 30519816
    Went M, Kinnersley B, Sud A, Johnson DC, Weinhold N, Försti A, van Duin M, Orlando G, Mitchell JS, Kuiper R, Walker BA, Gregory WM,
    Hoffmann P
  95. , Jackson GH, Nöthen MM, da Silva Filho MI, Thomsen H, Broyl A, Davies FE, Thorsteinsdottir U, Hansson M, Kaiser M, Sonneveld P, Goldschmidt H, Stefansson K, Hemminki K, Nilsson B, Morgan GJ, Houlston RS (2019) Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes. Human Genomics 13:37. doi: 10.1186/s40246-019-0231-5. PMID: 31429796
  96. Yu D, Sul JH, Tsetsos F, Nawaz MS, … , Singer HS, Nöthen MM, Hebebrand J, Hinney A, King RA, Fernandez TV, Barta C, …, Davis LK, Paschou P, Coppola G, Mathews CA, Scharf JM; Tourette Association of America International Consortium for Genetics, the Gilles de la Tourette GWAS Replication Initiative, the Tourette International Collaborative Genetics Study, and the Psychiatric Genomics Consortium Tourette Syndrome Working Group (2019) Interrogating the genetic determinants of Tourette’s syndrome and other tic disorders through genome-wide association studies. American Journal of Psychiatry 176:217-227. PMID: 30818990
  97. Zeck F, Reutter H (2019) Gastrointestinal diseases among relatives of patients with esophageal atresia with or without tracheoesophageal fistula. Translational Pediatrics 8:378-382. PMID: 31993350

Übersichtsarbeiten / Bücher / Kommentare 2019

  1. Frank J, Betz RC (2019) Haaranomalien bei syndromalen Erkrankungen [Hair anomalies in syndromic disorders]. Hautarzt 70:514-519. PMID: 31197391. Review
  2. Frese S, Weigert A, Hoppe B, Feldkötter M, Ludwig M, Weber S, Kiliś-Pstrusińska K, Zaniew M, Reutter H, Hilger AC (2019) A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. Lower Urinary Tract Symptoms 11:O85-O88. PMID: 29664229. Review
  3. Horn LC, Emons G, Aretz S, Bock N, Follmann M, Lax S, Nothacker M, Steiner E, Mayr D; Deutsche Krebsgesellschaft (DKG); Kommission zur Erstellung der S3-Leitlinie „Diagnostik, Therapie und Nachsorge der Patientinnen mit Endometriumkarzinom“ (2019) S3-Leitlinie Diagnostik und Therapie des Endometriumkarzinoms. [S3 guidelines on the diagnosis and treatment of carcinoma of the endometrium: Requirements for pathology]. Pathologe 40:21-35. PMID: 30756154. Review
  4. Hüneburg R, Aretz S, Büttner R, Daum S, Engel C, Fechner G, Habermann JK, Heling D, Hoffmann K, Holinski-Feder E, Kloor M, von Knebel-Döberitz M, Loeffler M, Möslein G, Perne C, Redler S, Rieß O, Schmiegel W, Seufferlein T, Siebers-Renelt U, Steinke-Lange V, Tecklenburg J, Vangala D, Vilz T, Weitz J, Wiedenmann B, Strassburg CP, Nattermann J (2019) Empfehlungen zur Früherkennung, Risikoreduktion, Überwachung und Therapie bei Patienten mit Lynch-Syndrom [Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients]. Zeitschrift für Gastroenterologie 57:1309-1320. PMID: 31739377
  5. Ludwig KU, Degenhardt F, Nöthen MM (2019): Die Rolle seltener Varianten bei häufigen Krankheiten [The role of rare variants in common diseases]. Medizinische Genetik 31:212-221.
  6. Nöthen MM (2019) Fortschritte bei der Diagnostik und Therapie erblicher Krankheiten.in: Erzbischöfliches Generalvikariat Paderborn. Ärztetag 2018: Molekulare Medizin – Möglichkeiten, Grenzen, Risiken. S. 19-25.
  7. Nöthen MM, Degenhardt F, Forstner AJ (2019) Durchbrüche im Verständnis der molekularen Ursachen psychiatrischer Störungen [Breakthrough in understanding the molecular causes of psychiatric disorders]. Nervenarzt 90:99-106. doi: 10.1007/s00115-018-0670-6. Review.PMID: 30758637
  8. Nöthen MM, Degenhardt F, Forstner AJ (2019) Molekulargenetische Erkenntnisse erweitern das Verständnis psychiatrischer Störungen [Molecular genetic knowledge extends the understanding of psychiatric disorders]. Nervenarzt 90:742-744. PMID: 31187174
  9. Spier I, Hüneburg R, Vilz T, Aretz S. Gastrointestinale Polyposis-Syndrome (2019) Journal Onkologie 9:29-44. Review
  10. Spier I, Hüneburg R, Vilz T, Aretz S. Gastrointestinale Polyposis-Syndrome (2019) Journal Onkologie 12: 33-41. Review