Kliniken & Institute ... Institute Humangenetik Forschung Publikationen 2013

Publikationen 2013

Bacon C, Endris V, Rappold GA. The cellular function of srGAP3 and its role in neuronal morphogenesis. Mech Dev. 2013;130(6-8):391-395.

Bandapalli OR, Zimmermann M, Kox C, Stanulla M, Schrappe M, Ludwig WD, Koehler R, Muckenthaler MU, Kulozik AE. NOTCH1 activation clinically antagonizes the unfavorable effect of PTEN inactivation in BFM-treated children with precursor T-cell acute lymphoblastic leukemia. Haematologica. 2013;98(6):928-936.

Barenz F, Inoue D, Yokoyama H, Tegha-Dunghu J, Freiss S, Draeger S, Mayilo D, Cado I, Merker S, Klinger M, Hoeckendorf B, Pilz S, Hupfeld K, Steinbeisser H, Lorenz H, Ruppert T, Wittbrodt J, Gruss OJ. The centriolar satellite protein SSX2IP promotes centrosome maturation. J Cell Biol. 2013;202(1):81-95.

Becker N, Byl A, Friedrich S, Jauch A, Schnitzler P, Egerer G, Ho AD, Goldschmidt H, Neben K. Hepatitis B virus infection is associated with deletion of chromosome 8p in multiple myeloma. Eur J Haematol. 2013;90(4):279-285.

Becker-Grunig T, Klose H, Ehlken N, Lichtblau M, Nagel C, Fischer C, Gorenflo M, Tiede H, Schranz D, Hager A, Kaemmerer H, Miera O, Ulrich S, Speich R, Uiker S, Grunig E. Efficacy of exercise training in pulmonary arterial hypertension associated with congenital heart disease. Int J Cardiol. 2013;168(1):375-381.

Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Riess A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linne M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat. 2013;34(1):237-247.

Blattmann P, Schuberth C, Pepperkok R, Runz H. RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function. PLoS Genet. 2013;9(2):e1003338.

Blum WF, Ross JL, Zimmermann AG, Child CJ, Kalifa G, Deal C, Drop SL, Rappold G, Cutler GB, Jr. GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial. J Clin Endocrinol Metab. 2013;98(8):E1383-1392.

Bochtler T, Stolzel F, Heilig CE, Kunz C, Mohr B, Jauch A, Janssen JW, Kramer M, Benner A, Bornhauser M, Ho AD, Ehninger G, Schaich M, Kramer A. Clonal heterogeneity as detected by metaphase karyotyping is an indicator of poor prognosis in acute myeloid leukemia. J Clin Oncol. 2013;31(31):3898-3905.

Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, Bolla MK, Wang Q, Dennis J, McGuffog L, Barrowdale D, Lee A, Healey S, Lush M, Tessier DC, Vincent D, Bacot F, Australian Cancer S, Australian Ovarian Cancer S, Kathleen Cuningham Foundation Consortium for Research into Familial Breast C, Gene Environment I, Breast C, Swedish Breast Cancer S, Hereditary B, Ovarian Cancer Research Group N, Epidemiological study of B, Carriers BM, Genetic Modifiers of Cancer Risk in BMC, Vergote I, Lambrechts S, Despierre E, Risch HA, Gonzalez-Neira A, Rossing MA, Pita G, Doherty JA, Alvarez N, Larson MC, Fridley BL, Schoof N, Chang-Claude J, Cicek MS, Peto J, Kalli KR, Broeks A, Armasu SM, Schmidt MK, Braaf LM, Winterhoff B, Nevanlinna H, Konecny GE, Lambrechts D, Rogmann L, Guenel P, Teoman A, Milne RL, Garcia JJ, Cox A, Shridhar V, Burwinkel B, Marme F, Hein R, Sawyer EJ, Haiman CA, Wang-Gohrke S, Andrulis IL, Moysich KB, Hopper JL, Odunsi K, Lindblom A, Giles GG, Brenner H, Simard J, Lurie G, Fasching PA, Carney ME, Radice P, Wilkens LR, Swerdlow A, Goodman MT, Brauch H, Garcia-Closas M, Hillemanns P, Winqvist R, Durst M, Devilee P, Runnebaum I, Jakubowska A, Lubinski J, Mannermaa A, Butzow R, Bogdanova NV, Dork T, Pelttari LM, Zheng W, Leminen A, Anton-Culver H, Bunker CH, Kristensen V, Ness RB, Muir K, Edwards R, Meindl A, Heitz F, Matsuo K, du Bois A, Wu AH, Harter P, Teo SH, Schwaab I, Shu XO, Blot W, Hosono S, Kang D, Nakanishi T, Hartman M, Yatabe Y, Hamann U, Karlan BY, Sangrajrang S, Kjaer SK, Gaborieau V, Jensen A, Eccles D, Hogdall E, Shen CY, Brown J, Woo YL, Shah M, Azmi MA, Luben R, Omar SZ, Czene K, Vierkant RA, Nordestgaard BG, Flyger H, Vachon C, Olson JE, Wang X, Levine DA, Rudolph A, Weber RP, Flesch-Janys D, Iversen E, Nickels S, Schildkraut JM, Silva Idos S, Cramer DW, Gibson L, Terry KL, Fletcher O, Vitonis AF, van der Schoot CE, Poole EM, Hogervorst FB, Tworoger SS, Liu J, Bandera EV, Li J, Olson SH, Humphreys K, Orlow I, Blomqvist C, Rodriguez-Rodriguez L, Aittomaki K, Salvesen HB, Muranen TA, Wik E, Brouwers B, Krakstad C, Wauters E, Halle MK, Wildiers H, Kiemeney LA, Mulot C, Aben KK, Laurent-Puig P, Altena AM, Truong T, Massuger LF, Benitez J, Pejovic T, Perez JI, Hoatlin M, Zamora MP, Cook LS, Balasubramanian SP, Kelemen LE, Schneeweiss A, Le ND, Sohn C, Brooks-Wilson A, Tomlinson I, Kerin MJ, Miller N, Cybulski C, Henderson BE, Menkiszak J, Schumacher F, Wentzensen N, Le Marchand L, Yang HP, Mulligan AM, Glendon G, Engelholm SA, Knight JA, Hogdall CK, Apicella C, Gore M, Tsimiklis H, Song H, Southey MC, Jager A, den Ouweland AM, Brown R, Martens JW, Flanagan JM, Kriege M, Paul J, Margolin S, Siddiqui N, Severi G, Whittemore AS, Baglietto L, McGuire V, Stegmaier C, Sieh W, Muller H, Arndt V, Labreche F, Gao YT, Goldberg MS, Yang G, Dumont M, McLaughlin JR, Hartmann A, Ekici AB, Beckmann MW, Phelan CM, Lux MP, Permuth-Wey J, Peissel B, Sellers TA, Ficarazzi F, Barile M, Ziogas A, Ashworth A, Gentry-Maharaj A, Jones M, Ramus SJ, Orr N, Menon U, Pearce CL, Bruning T, Pike MC, Ko YD, Lissowska J, Figueroa J, Kupryjanczyk J, Chanock SJ, Dansonka-Mieszkowska A, Jukkola-Vuorinen A, Rzepecka IK, Pylkas K, Bidzinski M, Kauppila S, Hollestelle A, Seynaeve C, Tollenaar RA, Durda K, Jaworska K, Hartikainen JM, Kosma VM, Kataja V, Antonenkova NN, Long J, Shrubsole M, Deming-Halverson S, Lophatananon A, Siriwanarangsan P, Stewart-Brown S, Ditsch N, Lichtner P, Schmutzler RK, Ito H, Iwata H, Tajima K, Tseng CC, Stram DO, van den Berg D, Yip CH, Ikram MK, Teh YC, Cai H, Lu W, Signorello LB, Cai Q, Noh DY, Yoo KY, Miao H, Iau PT, Teo YY, McKay J, Shapiro C, Ademuyiwa F, Fountzilas G, Hsiung CN, Yu JC, Hou MF, Healey CS, Luccarini C, Peock S, Stoppa-Lyonnet D, Peterlongo P, Rebbeck TR, Piedmonte M, Singer CF, Friedman E, Thomassen M, Offit K, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Garber J, Narod SA, Weitzel JN, Montagna M, Olah E, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Imyanitov EN, Tihomirova L, Arun BK, Campbell I, Mensenkamp AR, van Asperen CJ, van Roozendaal KE, Meijers-Heijboer H, Collee JM, Oosterwijk JC, Hooning MJ, Rookus MA, van der Luijt RB, Os TA, Evans DG, Frost D, Fineberg E, Barwell J, Walker L, Kennedy MJ, Platte R, Davidson R, Ellis SD, Cole T, Bressac-de Paillerets B, Buecher B, Damiola F, Faivre L, Frenay M, Sinilnikova OM, Caron O, Giraud S, Mazoyer S, Bonadona V, Caux-Moncoutier V, Toloczko-Grabarek A, Gronwald J, Byrski T, Spurdle AB, Bonanni B, Zaffaroni D, Giannini G, Bernard L, Dolcetti R, Manoukian S, Arnold N, Engel C, Deissler H, Rhiem K, Niederacher D, Plendl H, Sutter C, Wappenschmidt B, Borg A, Melin B, Rantala J, Soller M, Nathanson KL, Domchek SM, Rodriguez GC, Salani R, Kaulich DG, Tea MK, Paluch SS, Laitman Y, Skytte AB, Kruse TA, Jensen UB, Robson M, Gerdes AM, Ejlertsen B, Foretova L, Savage SA, Lester J, Soucy P, Kuchenbaecker KB, Olswold C, Cunningham JM, Slager S, Pankratz VS, Dicks E, Lakhani SR, Couch FJ, Hall P, Monteiro AN, Gayther SA, Pharoah PD, Reddel RR, Goode EL, Greene MH, Easton DF, Berchuck A, Antoniou AC, Chenevix-Trench G, Dunning AM. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet. 2013;45(4):371-384, 384e371-372.

Chubb D, Weinhold N, Broderick P, Chen B, Johnson DC, Forsti A, Vijayakrishnan J, Migliorini G, Dobbins SE, Holroyd A, Hose D, Walker BA, Davies FE, Gregory WA, Jackson GH, Irving JA, Pratt G, Fegan C, Fenton JA, Neben K, Hoffmann P, Nothen MM, Muhleisen TW, Eisele L, Ross FM, Straka C, Einsele H, Langer C, Dorner E, Allan JM, Jauch A, Morgan GJ, Hemminki K, Houlston RS, Goldschmidt H. Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. Nat Genet. 2013;45(10):1221-1225.

Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A, kConFab I, Radice P, Schmutzler RK, Swe B, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M, Ontario Cancer Genetics N, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Toland AE, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmana J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gomez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT, Hebon, Embrace, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Leone M, Pujol P, Mazoyer S, Bignon YJ, Collaborators GS, Zlowocka-Perlowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jonson L, Andersen MK, Ding YC, Steele L, Foretova L, Teule A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomaki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A, Bcfr, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC, Cimba. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 2013;9(3):e1003212.

Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U. The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? Am J Med Genet A. 2013;161(9):2158-2166.

Dohrn MF, Rocken C, De Bleecker JL, Martin JJ, Vorgerd M, Van den Bergh PY, Ferbert A, Hinderhofer K, Schroder JM, Weis J, Schulz JB, Claeys KG. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. J Neurol. 2013;260(12):3093-3108.

Dorge P, Meissner B, Zimmermann M, Moricke A, Schrauder A, Bouquin JP, Schewe D, Harbott J, Teigler-Schlegel A, Ratei R, Ludwig WD, Koehler R, Bartram CR, Schrappe M, Stanulla M, Cario G. IKZF1 deletion is an independent predictor of outcome in pediatric acute lymphoblastic leukemia treated according to the ALL-BFM 2000 protocol. Haematologica. 2013;98(3):428-432.

Durand C, Rappold GA. Height matters-from monogenic disorders to normal variation. Nat Rev Endocrinol. 2013;9(3):171-177.

Eissmann M, Melzer IM, Fernandez SB, Michel G, Hrabe de Angelis M, Hoefler G, Finkenwirth P, Jauch A, Schoell B, Grez M, Schmidt M, Bartholomae CC, Newrzela S, Haetscher N, Rieger MA, Zachskorn C, Mittelbronn M, Zornig M. Overexpression of the anti-apoptotic protein AVEN contributes to increased malignancy in hematopoietic neoplasms. Oncogene. 2013;32(20):2586-2591.

Ellinghaus D, Folseraas T, Holm K, Ellinghaus E, Melum E, Balschun T, Laerdahl JK, Shiryaev A, Gotthardt DN, Weismuller TJ, Schramm C, Wittig M, Bergquist A, Bjornsson E, Marschall HU, Vatn M, Teufel A, Rust C, Gieger C, Wichmann HE, Runz H, Sterneck M, Rupp C, Braun F, Weersma RK, Wijmenga C, Ponsioen CY, Mathew CG, Rutgeerts P, Vermeire S, Schrumpf E, Hov JR, Manns MP, Boberg KM, Schreiber S, Franke A, Karlsen TH. Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4. Hepatology. 2013;58(3):1074-1083.

Elsässer M, Bosselmann S, Moog U, Sinn P, Capper D, Schlehe B, Sohn C. Heidelberger Fetal Board. Der Frauenarzt 2013;54:381-382.

Evers C, Jungwirth M, Morgenthaler J, Hinderhofer K, Maas B, Janssen J, Jauch A, Hehr U, Steinbeisser H, Moog U. Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox. Clin Genet. 2013, Apr 24 Epub ahead of print.

Fischer C, Kuchenbacker K, Engel C, Zachariae S, Rhiem K, Meindl A, Rahner N, Dikow N, Plendl H, Debatin I, Grimm T, Gadzicki D, Flottmann R, Horvath J, Schrock E, Stock F, Schafer D, Schwaab I, Kartsonaki C, Mavaddat N, Schlegelberger B, Antoniou AC, Schmutzler R, German Consortium for Hereditary B, Ovarian C. Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium. J Med Genet. 2013;50(6):360-367.

Franz C, Hoffmann K, Hinz U, Singer R, Hund E, Gotthardt DN, Ganten T, Kristen AV, Hegenbart U, Schonland S, Hinderhofer K, Buchler MW, Schemmer P. Modified body mass index and time interval between diagnosis and operation affect survival after liver transplantation for hereditary amyloidosis: a single-center analysis. Clin Transplant. 2013;27 Suppl 25:40-48.

Freunscht I, Popp B, Blank R, Endele S, Moog U, Petri H, Prott EC, Reis A, Rubo J, Zabel B, Zenker M, Hebebrand J, Wieczorek D. Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct. 2013;9(20):11.

Friedrich K, Rupp C, Hov JR, Steinebrunner N, Weiss KH, Stiehl A, Brune M, Schaefer PK, Schemmer P, Sauer P, Schirmacher P, Runz H, Karlsen TH, Stremmel W, Gotthardt DN. A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis. PLoS One. 2013;8(3):e58734.

Frühmesser A, Blake J, Haberlandt E, Baying B, Raeder B, Runz H, Spreiz A, Fauth C, Benes V, Utermann G, Zschocke J, Kotzot D. Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. Eur J Hum Genet. 2013;21(10):1177-1180.

Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, Barrowdale D, Dunning AM, Lee A, Dennis J, Healey S, Dicks E, Soucy P, Sinilnikova OM, Pankratz VS, Wang X, Eldridge RC, Tessier DC, Vincent D, Bacot F, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Investigators KC, Peterlongo P, Schmutzler RK, Nathanson KL, Piedmonte M, Singer CF, Thomassen M, Ontario Cancer Genetics N, Hansen T, Neuhausen SL, Blanco I, Greene MH, Garber J, Weitzel JN, Andrulis IL, Goldgar DE, D'Andrea E, Caldes T, Nevanlinna H, Osorio A, van Rensburg EJ, Arason A, Rennert G, van den Ouweland AM, van der Hout AH, Kets CM, Aalfs CM, Wijnen JT, Ausems MG, Hebon, Embrace, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Jacobs C, Adlard J, Tischkowitz M, Porteous ME, Damiola F, Collaborators GS, Golmard L, Barjhoux L, Longy M, Belotti M, Ferrer SF, Mazoyer S, Spurdle AB, Manoukian S, Barile M, Genuardi M, Arnold N, Meindl A, Sutter C, Wappenschmidt B, Domchek SM, Pfeiler G, Friedman E, Jensen UB, Robson M, Shah S, Lazaro C, Mai PL, Benitez J, Southey MC, Schmidt MK, Fasching PA, Peto J, Humphreys MK, Wang Q, Michailidou K, Sawyer EJ, Burwinkel B, Guenel P, Bojesen SE, Milne RL, Brenner H, Lochmann M, Network G, Aittomaki K, Dork T, Margolin S, Mannermaa A, Lambrechts D, Chang-Claude J, Radice P, Giles GG, Haiman CA, Winqvist R, Devillee P, Garcia-Closas M, Schoof N, Hooning MJ, Cox A, Pharoah PD, Jakubowska A, Orr N, Gonzalez-Neira A, Pita G, Alonso MR, Hall P, Couch FJ, Simard J, Altshuler D, Easton DF, Chenevix-Trench G, Antoniou AC, Offit K. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet. 2013;9(3):e1003173.

Gazou A, Riess A, Grasshoff U, Schaferhoff K, Bonin M, Jauch A, Riess O, Tzschach A. Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. Am J Med Genet A. 2013;161A(4):860-864.

Glaser A, Arora R, Hoffmann S, Li L, Gretz N, Papaioannou VE, Rappold GA. Tbx4 interacts with the short stature homeobox gene Shox2 in limb development. Dev Dyn. 2013, Dec 17 Epub ahead of print.

Gorny AK, Kaufmann LT, Swain RK, Steinbeisser H. A secreted splice variant of the Xenopus frizzled-4 receptor is a biphasic modulator of Wnt signalling. Cell Commun Signal. 2013;11(89):6.

Gottschling S, Granzow M, Kuner R, Jauch A, Herpel E, Xu EC, Muley T, Schnabel PA, Herth FJ, Meister M. Mesenchymal stem cells in non-small cell lung cancer--different from others? Insights from comparative molecular and functional analyses. Lung Cancer. 2013;80(1):19-29.

Grunig E, Henn P, D'Andrea A, Claussen M, Ehlken N, Maier F, Naeije R, Nagel C, Prange F, Weidenhammer J, Fischer C, Bossone E. Reference values for and determinants of right atrial area in healthy adults by 2-dimensional echocardiography. Circ Cardiovasc Imaging. 2013;6(1):117-124.

Grunig E, Tiede H, Enyimayew EO, Ehlken N, Seyfarth HJ, Bossone E, D'Andrea A, Naeije R, Olschewski H, Ulrich S, Nagel C, Halank M, Fischer C. Assessment and prognostic relevance of right ventricular contractile reserve in patients with severe pulmonary hypertension. Circulation. 2013;128(18):2005-2015.

Hagenmueller M, Riffel JH, Bernhold E, Fan J, Zhang M, Ochs M, Steinbeisser H, Katus HA, Hardt SE. Dapper-1 induces myocardial remodeling through activation of canonical Wnt signaling in cardiomyocytes. Hypertension. 2013;61(6):1177-1183.

Harmel EM, Binder G, Barnikol-Oettler A, Caliebe J, Kiess W, Losekoot M, Ranke MB, Rappold GA, Schlicke M, Stobbe H, Wit JM, Pfaffle R, Klammt J. Alu-Mediated Recombination Defect in IGF1R: Haploinsufficiency in a Patient with Short Stature. Horm Res Paediatr. 2013, Nov 26 Epub ahead of print.

Harzheim D, Klose H, Pinado FP, Ehlken N, Nagel C, Fischer C, Ghofrani A, Rosenkranz S, Seyfarth HJ, Halank M, Mayer E, Grunig E, Guth S. Anxiety and depression disorders in patients with pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension. Respir Res. 2013;14(104):10.

Hoffmann S, Berger IM, Glaser A, Bacon C, Li L, Gretz N, Steinbeisser H, Rottbauer W, Just S, Rappold G. Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia. Basic Res Cardiol. 2013;108(2;339):11.

Horn S, Figl A, Rachakonda PS, Fischer C, Sucker A, Gast A, Kadel S, Moll I, Nagore E, Hemminki K, Schadendorf D, Kumar R. TERT promoter mutations in familial and sporadic melanoma. Science. 2013;339(6122):959-961.

Hristov G, Marttila T, Durand C, Niesler B, Rappold GA, Marchini A. SHOX triggers the lysosomal pathway of apoptosis via oxidative stress. Hum Mol Genet. 2013, Nov 13 Epub ahead of print.

Hullein J, Jethwa A, Stolz T, Blume C, Sellner L, Sill M, Langer C, Jauch A, Paruzynski A, von Kalle C, Schmidt M, Glimm H, Zenz T. Next-generation sequencing of cancer consensus genes in lymphoma. Leuk Lymphoma. 2013;54(8):1831-1835.

Iskar M, Zeller G, Blattmann P, Campillos M, Kuhn M, Kaminska KH, Runz H, Gavin AC, Pepperkok R, van Noort V, Bork P. Characterization of drug-induced transcriptional modules: towards drug repositioning and functional understanding. Mol Syst Biol. 2013;9(662):13.

Jethwa A, Hullein J, Stolz T, Blume C, Sellner L, Jauch A, Sill M, Kater AP, te Raa GD, Geisler C, van Oers M, Dietrich S, Dreger P, Ho AD, Paruzynski A, Schmidt M, von Kalle C, Glimm H, Zenz T. Targeted resequencing for analysis of clonal composition of recurrent gene mutations in chronic lymphocytic leukaemia. Br J Haematol. 2013;163(4):496-500.

Koehler R, Bartram CR. [Molecular genetic detection of minimal residual disease (MRD) in children with acute lymphoblastic leukemia]. Klin Padiatr. 2013;225 Suppl 1:S40-44.

Landry JJ, Pyl PT, Rausch T, Zichner T, Tekkedil MM, Stutz AM, Jauch A, Aiyar RS, Pau G, Delhomme N, Gagneur J, Korbel JO, Huber W, Steinmetz LM. The genomic and transcriptomic landscape of a HeLa cell line. G3 (Bethesda). 2013;3(8):1213-1224.

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Migliorini G, Fiege B, Hosking FJ, Ma Y, Kumar R, Sherborne AL, da Silva Filho MI, Vijayakrishnan J, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson P, Hoffmann P, Nothen MM, Muhleisen TW, Eisele L, Zimmermann M, Bartram CR, Schrappe M, Greaves M, Stanulla M, Hemminki K, Houlston RS. Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. Blood. 2013;122(19):3298-3307.

Moehler TM, Seckinger A, Hose D, Andrulis M, Moreaux J, Hielscher T, Willhauck-Fleckenstein M, Merling A, Bertsch U, Jauch A, Goldschmidt H, Klein B, Schwartz-Albiez R. The glycome of normal and malignant plasma cells. PLoS One. 2013;8(12):e83719.

Moog U, Uyanik G, Kutsche K. CASK-Related Disorders. 2013 Nov 26. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviewsTM [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: www.ncbi.nlm.nih.gov/books/NBK169825/

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Pfarr N, Fischer C, Ehlken N, Becker-Grunig T, Lopez-Gonzalez V, Gorenflo M, Hager A, Hinderhofer K, Miera O, Nagel C, Schranz D, Grunig E. Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. Respir Res. 2013;14(3):9.

Pfeiffer MJ, Esteves TC, Balbach ST, Arauzo-Bravo MJ, Stehling M, Jauch A, Houghton FD, Schwarzer C, Boiani M. Reprogramming of two somatic nuclei in the same ooplasm leads to pluripotent embryonic stem cells. Stem Cells. 2013;31(11):2343-2353.

Purrucker JC, Hund E, Hinderhofer K, Kollmer J, Schonland S, Hegenbart U. Doxycycline in ATTRY69H (p.ATTRY89H) amyloidosis with predominant leptomeningeal manifestation. Amyloid. 2013;20(4):279-280.

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Weinhold N, Johnson DC, Chubb D, Chen B, Forsti A, Hosking FJ, Broderick P, Ma YP, Dobbins SE, Hose D, Walker BA, Davies FE, Kaiser MF, Li NL, Gregory WA, Jackson GH, Witzens-Harig M, Neben K, Hoffmann P, Nothen MM, Muhleisen TW, Eisele L, Ross FM, Jauch A, Goldschmidt H, Houlston RS, Morgan GJ, Hemminki K. The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. Nat Genet. 2013;45(5):522-525.