Kliniken & Institute … Institute Humangenetik Forschung Publikationen 2018

Publikationen 2018

1.      Bächli H, Ecker J, van Tilburg C, Sturm D, Selt F, Sahm F, Koelsche C, Grund K, Sutter C, Pietsch T, Witt H, Herold-Mende C, von Deimling A, Jones D, Pfister S, Witt O, Milde T Molecular Diagnostics in Pediatric Brain Tumors: Impact on Diagnosis and Clinical Decision-Making - A Selected Case Series KLIN PADIATR 2018;230:305-9.

2.      Berens S, Stroe-Kunold E, Kraus F, Tesarz J, Gauss A, Niesler B, Herzog W, Schaefert R Pilot-RCT of an integrative group therapy for patients with refractory irritable bowel syndrome (ISRCTN02977330) J PSYCHOSOM RES 2018;105:72-8.

3.      Berkel S, Elthoki A, Fröhlich H, Porras González D, Rafiullah R, Sprengel R, Rappold G Sex Hormones Regulate SHANK Expression FRONT MOL NEUROSCI 2018;11:1-10.

4.      Böck J, Appenzeller S, Haertle L, Schneider T, Gehrig A, Schröder J, Rost S, Wolf B, Bartram C, Sutter C, Haaf T Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients INT J CANCER 2018;143:1416-10.

5.      Braun A, Martinez C, Schmitteckert S, Röth R, Lasitschka F, Niesler B Site-specific gene expression analysis from archived human intestine samples combining laser-capture microdissection and multiplexed color-coded probes NEUROGASTROENT MOTIL 2018;30:1-6.

6.      Coghlan J, Wolf M, Distler O, Denton C, Doelberg M, Harutyunova S, Marra A, Benjamin N, Fischer C, Gruenig E Incidence of pulmonary hypertension and determining factors in patients with systemic sclerosis EUR RESPIR J 2018;51:1-11.

7.      Czogalla B, Kahaly M, Mayr D, Schmoeckel E, Niesler B, Kolben T, Burges A, Mahner S, Jeschke U, Trillsch F Interaction of ER alpha and NRF2 Impacts Survival in Ovarian Cancer Patients INT J MOL SCI 2018;20:1-13.

8.      De Sena Cortabitarte A, Berkel S, Cristian F, Fischer C, Rappold G A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders J NEURODEV DISORD 2018;10:1-11.

9.      Dietrich S, Oleś M, Lu J, Sellner L, Anders S, Velten B, Wu B, Huellein J, da Silva Liberio M, Walther T, Wagner L, Rabe S, Ghidelli-Disse S, Bantscheff M, Oleś A, Słabicki M, Mock A, Oakes C, Wang S, Oppermann S, Lukas M, Kim V, Sill M, Benner A, Jauch A, Sutton L, Young E, Rosenquist R, Liu X, Jethwa A, Lee K, Lewis J, Putzker K, Lutz C, Rossi D, Mokhir A, Oellerich T, Zirlik K, Herling M, Nguyen-Khac F, Plass C, Andersson E, Mustjoki S, von Kalle C, Ho A, Hensel M, Duerig J, Ringshausen I, Zapatka M, Huber W, Zenz T Drug-perturbation-based stratification of blood cancer J CLIN INVEST 2018;128:427-19.

10.      Domschke G, Linden F, Pawig L, Hafner A, Akhavanpoor M, Reymann J, Doesch A, Erbel C, Weber C, Katus H, Noels H, Erfle H, Gleissner C, Runz H Systematic RNA-interference in primary human monocyte-derived macrophages: a high-throughput platform to study foam cell formation SCI REP-UK 2018;8:1-11.

11.      Eltokhi A, Rappold G, Sprengel R Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients with SHANK2 variants FRONT MOL NEUROSCI 2018;11:1-15.

12.      Erger F, Burau K, Elsässer M, Zimmermann K, Moog U, Netzer C Uniparental isodisomy as a cause of recessive Mendelian disease: A diagnostic pitfall with a quick and easy solution in medium/large-scale NGS-based analyses EUR J HUM GENET 2018;26:1392-4.

13.      Fischer L, Benjamin N, Blank N, Egenlauf B, Fischer C, Harutyunova S, Koegler M, Lorenz H, Marra A, Nagel C, Xanthouli P, Bossone E, Gruenig E Right heart size and function significantly correlate in patients with pulmonary arterial hypertension - a cross-sectional study RESP RES 2018;19:1-13.

14.      Gennarino V, Palmer E, McDonell L, Wang L, Adamski C, Koire A, See L, Chen C, Schaaf C, Rosenfeld J, Panzer J, Moog U, Hao S, Bye A, Kirk E, Stankiewicz P, Breman A, McBride A, Kandula T, Dubbs H, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias K, Cho M, Henderson L, Baskin B, Morris P, Tao J, Cowley M, Dinger M, Roscioli T, Caluseriu O, Suchowersky O, Sachdev R, Lichtarge O, Tang J, Boycott K, Holder JL J, Zoghbi H A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures CELL 2018;172:924-13.

15.      Goldschmidt H, Lokhorst H, Mai E, van der Holt B, Blau I, Zweegman S, Weisel K, Vellenga E, Pfreundschuh M, Kersten M, Scheid C, Croockewit S, Raymakers R, Hose D, Potamianou A, Jauch A, Hillengass J, Stevens-Kroef M, Raab M, Broijl A, Lindemann H, Bos G, Brossart P, van Marwijk Kooy M, Ypma P, Duehrsen U, Schaafsma R, Bertsch U, Hielscher T, Jarari L, Salwender H, Sonneveld P Bortezomib before and after high-dose therapy in myeloma: long-term results from the phase III HOVON-65/GMMG-HD4 trial LEUKEMIA 2018;32:383-8.

16.      Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber B, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmueller J, Volk A, Thiele H, Huebbel V, Nuernberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler R, Hahnen E Genepanel testing of 5589 BRCA 1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Heredetary Breast and Ovarian Cancer CANCER MED-US 2018;7:1349-10.

17.      Jurisic A, Robin C, Tarlykov P, Siggens L, Schoell B, Jauch A, Ekwall K, Sørensen C, Lipinski M, Shoaib M, Ogryzko V Topokaryotyping demonstrates single cell variability and stress dependent variations in nuclear envelope associated domains NUCLEIC ACIDS RES 2018;46:1-16.

18.      Liang J, Jahraus B, Balta E, Ziegler J, Huebner K, Blank N, Niesler B, Wabnitz G, Samstag Y Sulforaphane Inhibits Inflammatory Responses of Primary Human T-Cells by Increasing ROS and Depleting Glutathione Front Immunol 2018;9:1-17.

19.      Marra A, Halank M, Benjamin N, Bossone E, Cittadini A, Eichstaedt C, Egenlauf B, Harutyunova S, Fischer C, Gall H, Ardeschir Ghofrani H, Hoeper M, Lange T, Olsson K, Klose H, Gruenig E Right ventricular size and function under riociguat in pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension (the RIVER study) RESP RES 2018;19:1-11.

20.      Merz M, Hielscher T, Hoffmann K, Seckinger A, Hose D, Raab M, Hillengass J, Jauch A, Goldschmidt H Cytogenetic abnormalities in monoclonal gammopathy of undetermined significance LEUKEMIA 2018;32:2717-3.

21.      Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold G Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature EUR J HUM GENET 2018;26:1113-8.

22.      Moog U, Dobyns W An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome AM J MED GENET C 2018;178:414-9.

23.      Ojeda Naharros I, Cristian F, Zang J, Gesemann M, Ingham P, Neuhauss S, Bachmann-Gagescu R The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance SCI REP-UK 2018;8:1-13.

24.      Olschewski A, Berghausen E, Eichstaedt C, Fleischmann B, Gruenig E, Gruenig G, Hansmann G, Harbaum L, Hennigs J, Jonigk D, Kuebler W, Kwapiszewska G, Pullamsetti S, Stacher E, Weissmann N, Wenzel D, Schermuly R Pathobiology, pathology and genetics of pulmonary hypertension: Update from the Cologne Consensus Conference 2018 INT J CARDIOL 2018;272:4-7.

25.      Ratnaparkhe M, Wong J, Wei P, Hlevnjak M, Kolb T, Simovic M, Haag D, Paul Y, Devens F, Northcott P, Jones D, Kool M, Jauch A, Pastorczak A, Mlynarski W, Korshunov A, Kumar R, Downing S, Pfister S, Zapatka M, McKinnon P, Alt F, Lichter P, Ernst A Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors NAT COMMUN 2018;9:1-13.

26.      Rebbeck T, Friebel T, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade O, Solano A, Teo S, Thomassen M, Weitzel J, Chan T, Couch F, Goldgar D, Kruse T, Palmero E, Park S, Torres D, van Rensburg E, McGuffog L, Parsons M, Leslie G, Aalfs C, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis I, Arason A, Arnold N, Arun B, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir R, Barrowdale D, Benitez J, Berger A, Berger R, Blanco A, Blazer K, Blok M, Bonadona V, Bonanni B, Bradbury A, Brewer C, Buecher B, Buys S, Caldes T, Caliebe A, Caligo M, Campbell I, Caputo S, Chiquette J, Chung W, Claes K, Collée J, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding Y, Ditsch N, Domchek S, Dorfling C, Velazquez C, Dworniczak B, Eason J, Easton D, Eeles R, Ehrencrona H, Ejlertsen B; E, Engel C, Engert S, Evans D, Faivre L, Feliubadaló L, Ferrer S, Foretova L, Fowler J, Frost D, Galvão H, Ganz P, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study C, Gerdes A, Gesta P, Giannini G, Giraud S, Glendon G, Godwin A, Greene M, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J; H, Henderson A, Hentschel J, Hogervorst F, Honisch E, Imyanitov E, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen U, John E, Vijai J, Kaczmarek K, Karlan B, Kast K, Investigators K, Kim S, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee M, Lester J, Lesueur F, Liljegren A, Lindor N, Longy M, Loud J, Lu K, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer H, Meindl A, Mensenkamp A, Mickys U, Miller A, Montagna M, Moysich K, Mulligan A, Musinsky J, Neuhausen S, Nevanlinna H, Ngeow J, Nguyen H, Niederacher D, Nielsen H, Nielsen F, Nussbaum R, Offit K, Öfverholm A, Ong K, Osorio A, Papi L, Papp J, Pasini B, Pedersen I, Peixoto A, Peruga N, Peterlongo P, Pohl E, Pradhan N, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus S, Rantala J, Rashid M, Rhiem K, Robson M, Rodriguez G, Rogers M, Rudaitis V, Schmidt A, Schmutzler R, Senter L, Shah P, Sharma P, Side L, Simard J, Singer C, Skytte A, Slavin T, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo C, Tan Y, Teixeira M, Terry M, Teulé A, Thomas A, Thull D, Tischkowitz M, Tognazzo S, Toland A, Topka S, Trainer A, Tung N, van Asperen C, van der Hout A, van der Kolk L, van der Luijt R, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber B, Yannoukakos D, Yoon S, Zanzottera C, Zidan J, Zorn K, Hutten Selkirk C, Hulick P, Chenevix-Trench G, Spurdle A, Antoniou A, Nathanson K Mutational spectrum in a woldwide study of 29,700 families with BRCA1 or BRCA2 mutations HUM MUTAT 2018;39:593-28.

27.      Schrappe M, Bleckmann K, Zimmermann M, Biondi A, Möricke A, Locatelli F, Cario G, Rizzari C, Attarbaschi A, Valsecchi M, Bartram C, Barisone E, Niggli F, Niemeyer C, Testi A, Mann G, Ziino O, Schäfer B, Panzer-Gruemayer R, Beier R, Parasole R, Göhring G, Ludwig W, Casale F, Schlegel PG Basso G, Conter V Reduced-intensity Delayed Intensification in Standard-Risk Pediatric Acute Lymphoblastic Leukemia Defined by Undetectable Minimal Residual Disease Results of an International Randomized Trial AIEOP-BFM ALL 2000 J CLIN ONCOL 2018;36:244-10.

28.      Seckinger A, Hillengass J, Emde M, Beck S, Kimmich C, Dittrich T, Hundemer M, Jauch A, Hegenbart U, Raab M, Ho A, Schönland S, Hose D CD38 as Immunotherapeutic Target in Light Chain Amyloidosis and Multiple Myeloma-Association With Molecular Entities, Risk, Survival, and Mechanisms of Upfront Resistance. Front Immunol 2018;9:1-15.

29.      Simm F, Griesbeck A, Choukair D, Weiß B, Paramasivam N, Klammt J, Schlesner M, Wiemann S, Martinez C, Hoffmann G, Pfäffle R, Bettendorf M, Rappold G Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency GENET MED 2018;20:728-9.

30.      Sinning C, Harbaum L, Schrage B, Ruebsamen N, Magnussen C, Waschki B, Kleemann W, Baaske K, Kögler M, Ojeda F, Fischer C, Benjamin N, Westermann D, Zengin E, Schäfer U, Egenlauf B, Klose H, Blankenberg S, Gruenig E Right Ventricular Index for Risk Stratification of Patients with Pulmonary Arterial Hypertension RESPIRATION 2018;96:249-10.

31.      Stanulla M, Dagdan E, Zaliova M, Möricke A, Palmi C, Cazzaniga G, Eckert C, Te Kronnie G, Bourquin J, Bornhauser B, Koehler R, Bartram C, Ludwig W, Bleckmann K, Groeneveld-Krentz S, Schewe D, Junk S, Hinze L, Klein N, Kratz C, Biondi A, Borkhardt A, Kulozik A, Muckenthaler M, Basso G, Valsecchi M, Izraeli S, Petersen B, Franke A, Dörge P, Steinemann D, Haas O, Panzer-Gruemayer R, Cavé H, Houlston R, Cario G, Schrappe M, Zimmermann M; TRANSCALL Consortium; International BFM Study G IKZF1 plus defines a New Minimal Residual Disease Dependent Very-Poor Prognostic Profile in Pediatric B-cell Precursor Acute Lymphoblastic Leukemia J CLIN ONCOL 2018;20:1240-10.

32.      Steven S, Dib M, Hausding M, Kashaneh F, Oelze M, Kröller-Schön S, Hanf A, Daub S, Roohani S, Gramlich Y Lutgens E, Schulz E, Becker C, Lackner K, Kleinert H Knosalla C, Niesler B, Wild P, Muenzel T, Daiber A CD40L controls obesity-associated vascular inflammation, oxidative stress, and endothelial dysfunction in high fat diet-treated and db/db mice CARDIOVASC RES 2018;114:312-12.

33.      Törnblom H, Simren M, Barbara G, Niesler B Funding for gastrointestinal disease research in the European Union LANCET 2018;3:593-3.

34.      Vijayakrishnan J, Studd J, Broderick P, Kinnersley B, Holroyd A, Law P, Kumar R, Allan J, Harrison C, Moorman A, Vora A, Roman E, Rachakonda S, Kinsey S, Sheridan E, Thompson P, Irving J, Koehler R, Hoffmann P, Nöthen M, Heilmann-Heimbach S, Jöckel K, Easton D, Pharaoh P, Dunning A, Peto J, Canzian F, Swerdlow A, Eeles R, Kote-Jarai Z, Muir K, Pashayan N; PRACTICAL C, Greaves M, Zimmerman M, Bartram C, Schrappe M, Stanulla M, Hemminki K, Houlston R Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia NAT COMMUN 2018;9:1-9.

35.      Waszak S, Northcott P, Buchhalter I, Robinson G, Sutter C, Groebner S, Grund K, Brugières L, Jones D, Pajtler K, Morrissy A, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, Segura-Wang M, Weischenfeldt J, Rausch T, Mardin B, Zhou X, Baciu C, Lawerenz C, Chan J, Varlet P, Guerrini-Rousseau L, Fults D, Grajkowska W, Hauser P, Jabado N, Ra Y, Zitterbart K, Shringarpure S, De La Vega F, Bustamante C, Ng H, Perry A, MacDonald T, Hernáiz Driever P, Bendel A, Bowers D, McCowage G, Chintagumpala M, Cohn R, Hassall T, Fleischhack G, Eggen T, Wesenberg F, Feychting M, Lannering B, Schuez J, Johansen C, Andersen T, Röösli M, Kuehni C, Grotzer M, Kjaerheim K, Monoranu C, Archer T, Duke E, Pomeroy S, Shelagh R, Frank S, Sumerauer D, Scheurlen W, Ryzhova M, Milde T, Kratz C, Samuel D, Zhang J, Solomon D, Marra M, Eils R, Bartram C, von Hoff K, Rutkowski S, Ramaswamy V, Gilbertson R, Korshunov A, Taylor M, Lichter P, Malkin D, Gajjar A, Korbel J, Pfister S Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort LANCET ONCOL 2018;19:785-14.

36.      Yadav P, Merz M, Mai E, Försti A, Jauch A, Goldschmidt H, Hemminki K Cytogenetic aberrations in multiple myeloma are associated with shifts in serum immunoglobulin isotypes distribution and levels HAEMATOLOGICA 2018;103:162-3.