Kliniken & Institute ... Institute Humangenetik Forschung Publikationen 2016

Publikationen 2016

  1. Annamalai K, Gührs KH, Koehler R, Schmidt M, Michel H, Loos C, Gaffney PM, Sigurdson CJ, Hegenbarth U, Schönland S, Fändrich M. Polymorphism of Amyloid Fibrelis in Vivo. ANGEW CHEM INT EDIT 2016;55(1):4822-4825.
  2. Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BH, Mansour S, Albanese A, Garcia S, Ortiz Martin D, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière JB, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. CLIN GENET 2016;89:501-506.
  3. Baertsch MA, Schlenzka J, Mai EK, Merz M, Hillengaß J, Raab MS, Hose D, Wuchter P, Ho AD, Jauch A, Hielscher T, Kunz C, Luntz S, Klein S, Schmidt-Wolf IG, Goerner M, Schmidt-Hieber M, Reimer P, Graeven U, Fenk R, Salwender H, Scheid C, Nogai A, Haenel M, Lindemann HW, Martin H, Noppeney R, Weisel K, Goldschmidt H. Rationale and design of the German-Speaking Myeloma Multicenter Group GMMG trial and ReLApsE a randomized,open, multicenter phase III trial of lenalidomide/dexamethasone versus lenalidomide/dexamethasome plus subsequent autologous stem cell transpl. and lenalidom. maintenance in pat. w/ relapsed multiple myeloma. BMC CANCER 2016;16 (290):1-10.
  4. Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJ, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RC, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics.; Care4Rare Canada Consortium., Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. AM J HUM GENET 2016;98:579-587.
  5. Bochtler T, Hegenbart U, Kunz C, Benner A, Kimmich C, Seckinger A, Hose D, Goldschmidt H, Granzow M, Dreger P, Ho AD, Jauch A, Schönland SO. Prognostic impact of cytogenetic aberrations in AL amyloidosis patients after high-dose melphalan a long-term follow-up study. BLOOD 2016;128(4):594-602.
  6. Boeckxstaens GE, Drug V, Dumitrascu D, Farmer AD, Hammer J, Hausken T, Niesler B, Pohl D, Pojskic L, Polster A, Simren M, Goebel-Stengel M, Van Oudenhove L, Vassallo M, Wensaas KA, Aziz Q, Houghton LA; COST Action BM1106 GENIEUR members. Phenotyping of subjects for large scale studies on patients with IBS. NEUROGASTROENT MOTIL 2016;28:1134-1147.
  7. Brinkmann EM, Mattes B, Kumar R, Hagemann AI, Gradl D, Scholpp S, Steinbeisser H, Kaufmann LT, Özbek S. Secreted Frizzled-related Protein 2 sFRP2 Redirects Non-canonical Wnt Signaling from Fz7 to Ror2 during Vertebrate Gastrulation. J BIOL CHEM 2016;291:13730-13742.
  8. Celli J, Rappold GA, Niesler B. The Human Serotonin Type 3 Receptor Gene HTR3A-E Allelic Variant Database. HUM MUTAT 2016;2:137-147.
  9. Ebrahini-Fakhari D, Wahlster L, Bartz F, Werenbeck-Ueding J, Praggastis M, Zhang J, Joggerst-Thomalla B, Theiss S, Grimm D, Ory DS, Runz H. Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells. HUM MOL GENET 2016;25:3588-3599.
  10. Ehlken N, Lichtblau M, Klose H, Weidenhammer J, Fischer C, Nechwatal R, Uiker S, Halank M, Olsson K, Seeger W, Gall H, Rosenkranz S, Wilkens H, Mertens D, Seyfarth HJ, Opitz C, Ulrich S, Egenlauf B, Grünig E. 54Exercise training improves peak oxygen consumption and haemodynamics in patients with severe pulmonary arterial hypertension and inoperable chronic thrombo-embolic pulmonary hypertension: a prospective, randomized, controlled trial. EUR HEART J 2016;37:35-44.
  11. Eichstaedt C, Song J, Benjamin N, Harutyunova S, Fischer C, Grünig E, Hinderhofer K. EIF2AK mutation as a second hit in hereditary pulmonary arterial hypertension. RESP RES 2016;17:141-141.
  12. Eismann S, Vetter L, Keller M, Bruckner T, Golatta M, Hennings A, Domschke C, Dikow N, Sohn C, Heil J, Schott S. Long-term experience with genetic consultation in people with hereditary breast and ovarian cancer. ARCH GYNECOL OBSTET 2016;294(5):1011-1018.
  13. Enck P, AziZ Q, Giovanni B, Farmer AD, Fukado S, Mayer EA, Niesler B, Quigley EMM, Rajilic-Stojanovic M, Schemann M, Schwille-Kiuntke J, Simren M, Zipfel S, Spiller RC. Irritable Bowel Syndrome. Nat Rev Dis Primers 2016;1604:1-11.
  14. Evans JD, Girerd B, Montani D, Wang XJ, Galiè N, Austin ED, Elliott G, Asano K, Grünig E, Yan Y, Jing ZC, Manes A, Palazzini M, Wheeler LA, Nakayama I, Satoh T, Eichstaedt C, Hinderhofer K, Wolf M, Rosenzweig EB, Chung WK, Soubrier F, Simonneau G, Sitbon O, Gräf S, Kaptoge S, Di Angelantonio E, Humbert M, Morrell NW. BMPR2 mutations and survival in pulmonary arterial hypertension an individual participant data meta-analysis. LANCET RESP MED 2016;4(2):129-137.
  15. Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsässer M, Pinkert S, Schlesmer M, Bartram CR, Moog U. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. AM J MED GENET A 2016;170 (6):1502-1509.
  16. Gazouli M, Wouters MM, Kapur-Pojskic L, Bengtson MB, Friedman E, Nikcevic G, Demetriou C, Mulak A, Santos J, Niesler B. Lessons learned-resolving the enigma of genetic factors in IBS. NAT REV GASTRO HEPAT 2016;13:77-87.
  17. Goehringer C, Sutter C, Kloor M, Gebert J, Slater EP, Keller M, Treiber I, Ganschow P, Kadmon M, Moog U. Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor. FAM CANCER 2016;16:303-309.
  18. Gramer G, Haege G, Fang-Hoffmann J, Hoffmann GF, Bartram CR, Hinderhofer K, Bugard P, Lindner M. Medium-Chain Acyl-CoA Dehydrogenase Deficiency - Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. J INHERIT METAB DIS 2016;23:101-112.
  19. Hartung B, Temme O, Neuen-Jacob E, Ritz-Timme S, Hinderhofer K, Daldrup T. Ornithine transcarbamylase deficiency of a male newborn with fatal outcome. INT J LEGAL MED 2016;130 (3):783-785.
  20. Heller AM 6 co-Autoren, Janssen JWG, 7 co-Autoren, Giese NA. Establishment and Characterization of a Novel Cell Line ASAN-PaCa, Derived From Human Adenocarcinoma Arising in Intraductal Papillary Mucinous Neoplasm of the Pancreas. PANCREAS 2016;45:1452-1460.
  21. Hoffmann S, Clauss S, Berger IM, Weiß B, Montalbano A, Röth R, Bucher M, Klier I, Wakili R, Seitz H, Schulze-Bahr E, Katus HA, Flachsbart F, Nebel A, Guenther SPW, Bagaev E, Rottbauer W, Kääb S, Just S, Rappold GA. Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation. BASIC RES CARDIOL 2016;111(36):1-15.
  22. Kast K, 10 co-Autoren, Fischer C, Dikow N, 25 co-Autoren, German Consortium for Hereditary Breast and Ovarian Cancer. Prevalence of BRCA1/2 germline mutations in 21401 families with breast and ovarian cancer. J MED GENET 2016;53(7):465-471.
  23. Kayser S, Benner A, Thiede C, Martens U, Huber J, Stadtherr P, Janssen JWG, Röllig C, Uppenkamp MJ, Buchtler T, Hegenbarth U, Ehninger G, Ho AD, Dreger P, Krämer A. Pretransplant NPM1 MRD levels predict outcome after allogeneic hematopoietic stem cell transplantation in patients with acute myeloid leukemia. BLOOD CANCER J 2016;6:1-7.
  24. Kortüm KM, Mai EK, Hanafiah NH, Shi CX, Zhu YX, Bruins L, Barrio S, Jedlowski P, Merz M, Xu J, Stewart RA, Andrulis M, Jauch A, Hillengass J, Goldschmidt H, Bergsagel PL, Braggio E, Stewart AK, Raab MS. Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes. BLOOD 2016;128(9):1226-1233.
  25. Kouz K, 8 co-Autoren, Evers C, 15 co-Autoren, Zenker M. Genotype and phenotype in patients with Noonan syndrome and an RIT mutation. GENET MED 2016;18(12):1226-1234.
  26. Kuçi Z, Bönig H, Kreyenberg H, Bunos M, Jauch A, Janssen JWG, Škifić M, Michel K, Eising B, Lucchini G, Bakhtiar S, Greil J, Lang P, Basu O, von Luettichau I, Schulz A, Sykora KW, Jarisch A, Soerensen J, Salzmann-Manrique E, Seifried E, Klingebiel T, Bader P, Kuçi S. Mesenchymal stromal cells from pooled mononuclear cells of bone marrow donors as recue therapy in pediatric severe steroid-refractory graft-versus-host disease a multicenter survey. HAEMATOLOGICA 2016;101(8):985-994.
  27. Kumar R, Ciprianidis A, Theiß S, Steinbeißer H, Kaufmann LT. Nemo-like kinase 1 Nlk1 and paraxial protocadherin (PAPC cooperatively control Xenopus gastrulation through regulation of Wnt/planar cell polarity PCP signaling. DIFFERENTIATION 2016;93:27-38.
  28. Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB; GEMO Study Collaborators., Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S; EMBRACE., Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hallberg E, Hamann U, Hansen TV, Harrington PA, Hartman M, Hassan N, Healey S; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON)., Heitz F, Herzog J, Høgdall E, Høgdall CK, Hogervorst FB, Hollestelle A, Hopper JL, Hulick PJ, Huzarski T, Imyanitov EN; KConFab Investigators.; Australian Ovarian Cancer Study Group., Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John EM, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan BY, Khan S, Kiemeney LA, Kjaer SK, Knight JA, Konstantopoulou I, Kosma VM, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine DA, Li J, Lindblom A, Long J, Lophatananon A, Loud JT, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger LF, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp AR, Milne RL, Montagna M, Moysich KB, Muir K, Mulligan AM, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Nord S, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olswold C, O'Malley D, Orlow I, Orr N, Osorio A, Park SK, Pearce CL, Pejovic T, Peterlongo P, Pfeiler G, Phelan CM, Poole EM, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Rhenius V, Rhiem K, Risch HA, Rodriguez G, Rossing MA, Rudolph A, Salvesen HB, Sangrajrang S, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Sellers TA, Seynaeve C, Shah M, Shen CY, Shu XO, Sieh W, Singer CF, Sinilnikova OM, Slager S, Song H, Soucy P, Southey MC, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, Toland AE, Tomlinson I, Torres D, Truong T, Tseng CC, Tung N, Tworoger SS, Vachon C, van den Ouweland AM, van Doorn HC, van Rensburg EJ, Van't Veer LJ, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel JN, Wentzensen N, Whittemore AS, Wildiers H, Winqvist R, Wu AH, Yannoukakos D, Yoon SY, Yu JC, Zheng W, Zheng Y, Khanna KK, Simard J, Monteiro AN, French JD, Couch FJ, Freedman ML, Easton DF, Dunning AM, Pharoah PD, Edwards SL, Chenevix-Trench G, Antoniou AC, Gayther SA. Functional mechanisms underlying pleiotropic risk alleles at the 19p131 breast-ovarian cancer susceptibility locus. NAT COMMUN 2016;7:1-22.
  29. Liseko K, Schönland S, Jauch A, Andrulis M, Röcken C, Ho AD, Goldschmidt H, Hegenbarth U, Hundemer M. Flow-cytometry-based characterization of underlying clonal B and plasma cells in patients with light chain amyloidosis. CANCER MED-US 2016;5(7):1464-1472.
  30. Lisenko K, Schönland S, Hegenbart U, Wallenwein K, Braun UI, Mai EK, Hillengass J, Raab M, Jauch A, Ho AD, Goldschmidt H, Hundemer M. Potential therapeutic targets in plasma cell disorders: A flow cytometry study. CYTOM PART B-CLIN CY 2016;92:145-152.
  31. Mai EK, Hielscher T, Kloth KJ, Merz M, Shah S, Hillengass M, Wagner, Hose D, Raab MS, Jauch A, Delorme S, Goldschmidt H, Weber MA, Hillengass J. Association between magnetic resonance imaging patterns and baseline disease features in multiple myeloma analyzing surrogates of tumour mass and biology. EUR RADIOL 2016;26:3939-3948.
  32. Marchini A, Ogata T, Rappold GA. A Track Record on SHOX From Basic Research to Complex Models and Therapy. ENDOCR REV 2016;37 (4):417-448.
  33. Martinez C, Rodino-Janeiro BK, Lobo B, Stanifer ML, Klaus B, Granzow M, Alonso Cotoner C, Pihrau M, Roeth R, Rappold G, Huber W, Gonzalez Silos R, Lorenzo J, de Torres I, Azpiroz F, Boulant S, Vicario M, Niesler B, Santos J. miR-16 and miR-125b are involved in barrier function dysregulation through the moldulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea. GUT 2016;eap:1-16.
  34. Merz M, Hielscher T, Seckinger A, Hose D, Mai EK, Raab MS, Goldschmidt H, Jauch A, Hillengass J. Baseline characteristics, chromosomal alterations and treatment affecting prognosis of deletion 17p in newly diagnosed myeloma. AM J HEMATOL 2016;91(11):473-477.
  35. Merz M, Moehler TM, Ritsch J, Bäuerle T, Zechmann CM, Wagner B, Jauch A, Hose D, Kunz C, Hielscher T, Laue H, Goldschmidt H, Delorme S, Hillengass J. Prognostic significance of increased bone marrow microcirculation in newly diagnosed multiple myeloma: results of a prospective DCE-MRI study. EUR RADIOL 2016;5:1404-1411.
  36. Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M, Waqas A, So J, Rappold GA, Vincent JB, Ayub M. Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability. J HUM GENET 2016;61(10):867-872.
  37. Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, Rappold GA. Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO MOL MED 2016;8(1):1455-1469.
  38. Moog U, Zschocke J, Grünewald S. Inherited Metabolic Diseases. NULL 2016;NULL:-.
  39. Möricke A, Zimmermann M, Valsecchi MG, Stanulla M, Biondi A, Mann G, Locatelli F, Cazzaniga G, Niggli F, Aricò M, Bartram CR, Attarbaschi A, Silvestri D, Beier R, Basso G, Ratei R, Kulozik AE, Lo Nigro L, Kremens B, Greiner J, Parasole R, Harbott J, Caruso R, von Stackelberg A, Barisone E, Rössig C, Conter V, Schrappe M. Dexamethasone vs prednisone in induction treatment of pediatric ALL: results of the randomized trial AIEOP-BFM ALL 2000. BLOOD 2016;127 (17):2101-2112.
  40. Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J MED GENET 2016;53:98-110.
  41. Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. J MED GENET 2016;53:138-144.
  42. Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläaser D, Joset P, DDD Study, Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C. FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. J MED GENET 2016;54:64-72.
  43. Rosenbaum C, Schick MA, Wollborn J, Heider A, Scholz CJ, Cecil A, Niesler B, Hirrlinger J, Walles H, Metzger M. Activation of Myenteric Glia during Acute Inflammation In Vitro and In Vivo. PLOS ONE 2016;11(3):1-20.
  44. Schäfer M, Kadmon M, Schmidt W, Treiber I, Moog U, Sutter C, Stehr M. Neonatal Gardner Fibroma leads to detection of familial adenomatous polyposis two case reports. EUR J PEDIATR SURG 2016;4:17-21.
  45. Schmitteckert S, Mederer T, Niesler B. Genetik der Darm-Hirn-Achse am Besipiel des Reizdarmsymdroms. Neurologisch 2016;02/16:22-27.
  46. Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, Rantala J, Yoon SY, Caligo MA, Spugnesi L, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Toland AE, Senter L, Andrulis IL, Glendon G, Hulick PJ, Imyanitov EN, Greene MH, Mai PL, Singer CF, Rappaport-Fuerhauser C, Kramer G, Vijai J, Offit K, Robson M, Lincoln A, Jacobs L, Machackova E, Foretova L, Navratilova M, Vasickova P, Couch FJ, Hallberg E, Ruddy KJ, Sharma P, Kim SW; kConFab Investigators., Teixeira MR, Pinto P, Montagna M, Matricardi L, Arason A, Johannsson OT, Barkardottir RB, Jakubowska A, Lubinski J, Izquierdo A, Pujana MA, Balmaña J, Diez O, Ivady G, Papp J, Olah E, Kwong A; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON)., Nevanlinna H, Aittomäki K, Perez Segura P, Caldes T, Van Maerken T, Poppe B, Claes KB, Isaacs C, Elan C, Lasset C, Stoppa-Lyonnet D, Barjhoux L, Belotti M, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Kast K, Arnold N, Varon-Mateeva R, Wand D, Godwin AK, Evans DG, Frost D, Perkins J, Adlard J, Izatt L, Platte R, Eeles R, Ellis S; EMBRACE., Hamann U, Garber J, Fostira F, Fountzilas G, Pasini B, Giannini G, Rizzolo P, Russo A, Cortesi L, Papi L, Varesco L, Palli D, Zanna I, Savarese A, Radice P, Manoukian S, Peissel B, Barile M, Bonanni B, Viel A, Pensotti V, Tommasi S, Peterlongo P, Weitzel JN, Osorio A, Benitez J, McGuffog L, Healey S, Gerdes AM, Ejlertsen B, Hansen TV, Steele L, Ding YC, Tung N, Janavicius R, Goldgar DE, Buys SS, Daly MB, Bane A, Terry MB, John EM, Southey M, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L. Male breast cancer in BRCA1 and BRCA1 mutation carriers pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. BREAST CANCER RES 2016;18(1):1-13.
  47. Sollis E, Graham SA, Vino A, Froehlich H, Vreeburg M, Dimitropoulou D, Gilissen C, Pfundt R, Rappold GA, Brunner HG, Deriziotis P, Fisher SE. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. HUM MOL GENET 2016;25 (3):546-557.
  48. Song J, Eichstaedt CA, Rodriguez Viales R, Benjamin N, Harutyunova S, Fischer C, Grünig E, Hinderhofer K. Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool. CLIN SCI 2016;130:2043-2052.
  49. Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. J INHERIT METAB DIS 2016;39:3-16.
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