Publications 2010

Göhring I, Tagariello A, Endele S, Stolt CC, Ghassibé M, Fisher M, Thiel CT, Trautmann U, Vikkula M, Winterpacht A, Fitzpatrick DR, Rauch A: (2010) Disruption of ST5 is associated with mental retardation and multiple congenital anomalies. J Med Genet. 2010;47(2): 91-8
Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M: (2010) A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010;42(1): 27-9
Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A: (2010) Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet. 2010;47(5): 321-31
Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, Reis A: (2010) Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2010;51(1): 249-54
Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Weber BH, Kruse FE, Schlotzer-Schrehardt U, Reis A: (2010) Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma. J Glaucoma. 2010;19(8): 561-5
Lehmann ML, Selinski S, Blaszkewicz M, Orlich M, Ovsiannikov D, Moormann O, Guballa C, Kress A, Truss MC, Gerullis H, Otto T, Barski D, Niegisch G, Albers P, Frees S, Brenner W, Thuroff JW, Angeli-Greaves M, Seidel T, Roth G, Dietrich H, Ebbinghaus R, Prager HM, Bolt HM, Falkenstein M, Zimmermann A, Klein T, Reckwitz T, Roemer HC, Lohlein D, Weistenhofer W, Schöps W, Beg AE, Aslam M, Bánfi G, Romics I, Ickstadt K, Schwender H, Winterpacht A, Hengstler JG, Golka K: (2010) Rs710521[A] on chromosome 3q28 close to TP63 is associated with increased urinary bladder cancer risk. Arch Toxicol. 2010;84(12): 967-78
Azzato EM, Tyrer J, Fasching PA, Beckmann MW, Ekici AB, Schulz-Wendtland R, Bojesen SE, Nordestgaard BG, Flyger H, Milne RL, Arias JI, Menéndez P, Benitez J, Chang-Claude J, Hein R, Wang-Gohrke S, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Margolin S, Mannermaa A, Kosma VM, Kataja V, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer , Beesley J, Chen X, Chenevix-Trench G, Couch FJ, Olson JE, Fredericksen ZS, Wang X, Giles GG, Severi G, Baglietto L, Southey MC, Devilee P, Tollenaar RA, Seynaeve C, Garcia-Closas M, Lissowska J, Sherman ME, Bolton KL, Hall P, Czene K, Cox A, Brock IW, Elliott GC, Reed MW, Greenberg D, Anton-Culver H, Ziogas A, Humphreys M, Easton DF, Caporaso NE, Pharoah PD: (2010) Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival. J Natl Cancer Inst. 2010;102(9): 650-62
Huehne K, Schaal U, Leis S, Uebe S, Gosso MF, van den Maagdenberg AM, Maihöfner C, Birklein F, Rautenstrauss B, Winterpacht A: (2010) Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS). Neurosci Lett. 2010;472(1): 19-23
Goecke TW, Ekici AB, Niesler B, Loehberg CR, Hammer C, Rappold G, Schanze D, Straub V, Altmann HH, Strissel P, Strick R, Beckmann MW, Fasching PA: (2010) Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy. Acta Obstet Gynecol Scand. 2010;89(1): 7-14
Isidor B, Pichon O, Redon R, Day-Salvatore D, Hamel A, Siwicka KA, Bitner-Glindzicz M, Heymann D, Kjellén L, Kraus C, Leroy JG, Mortier GR, Rauch A, Verloes A, David A, Le Caignec C: (2010) Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet. 2010;87(1): 95-100
Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Wissinger B, Weisschuh N: (2010) Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population. BMC Genet. 2010;11(): 8
Goode EL, Chenevix-Trench G, Song H, Ramus SJ, Notaridou M, Lawrenson K, Widschwendter M, Vierkant RA, Larson MC, Kjaer SK, Birrer MJ, Berchuck A, Schildkraut J, Tomlinson I, Kiemeney LA, Cook LS, Gronwald J, Garcia-Closas M, Gore ME, Campbell I, Whittemore AS, Sutphen R, Phelan C, Anton-Culver H, Pearce CL, Lambrechts D, Rossing MA, Chang-Claude J, Moysich KB, Goodman MT, Dörk T, Nevanlinna H, Ness RB, Rafnar T, Hogdall C, Hogdall E, Fridley BL, Cunningham JM, Sieh W, McGuire V, Godwin AK, Cramer DW, Hernandez D, Levine D, Lu K, Iversen ES, Palmieri RT, Houlston R, van Altena AM, Aben KK, Massuger LF, Brooks-Wilson A, Kelemen LE, Le ND, Jakubowska A, Lubinski J, Medrek K, Stafford A, Easton DF, Tyrer J, Bolton KL, Harrington P, Eccles D, Chen A, Molina AN, Davila BN, Arango H, Tsai YY, Chen Z, Risch HA, McLaughlin J, Narod SA, Ziogas A, Brewster W, Gentry-Maharaj A, Menon U, Wu AH, Stram DO, Pike MC, Wellcome Trust Case-Control Consortium , Beesley J, Webb PM, Australian Cancer Study (Ovarian Cancer) , Australian Ovarian Cancer Study Group , Ovarian Cancer Association Consortium (OCAC) , Chen X, Ekici AB, Thiel FC, Beckmann MW, Yang H, Wentzensen N, Lissowska J, Fasching PA, Despierre E, Amant F, Vergote I, Doherty J, Hein R, Wang-Gohrke S, Lurie G, Carney ME, Thompson PJ, Runnebaum I, Hillemanns P, Dürst M, Antonenkova N, Bogdanova N, Leminen A, Butzow R, Heikkinen T, Stefansson K, Sulem P, Besenbacher S, Sellers TA, Gayther SA, Pharoah PD, Ovarian Cancer Association Consortium (OCAC): (2010) A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet. 2010;42(10): 874-9
Hüffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, Korendowych E, Juneblad K, Apel M, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Lascorz J, Böhm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Herold C, Steffens M, Klareskog L, Wienker TF, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A: (2010) Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet. 2010;42(11): 996-9
Genetic Analysis of Psoriasis Consortium &amp; the Wellcome Trust Case Control Consortium 2 , Strange A, Capon F, Spencer CC, Knight J, Weale ME, Allen MH, Barton A, Band G, Bellenguez C, Bergboer JG, Blackwell JM, Bramon E, Bumpstead SJ, Casas JP, Cork MJ, Corvin A, Deloukas P, Dilthey A, Duncanson A, Edkins S, Estivill X, Fitzgerald O, Freeman C, Giardina E, Gray E, Hofer A, Hüffmeier U, Hunt SE, Irvine AD, Jankowski J, Kirby B, Langford C, Lascorz J, Leman J, Leslie S, Mallbris L, Markus HS, Mathew CG, McLean WH, McManus R, Mossner R, Moutsianas L, Naluai AT, Nestle FO, Novelli G, Onoufriadis A, Palmer CN, Perricone C, Pirinen M, Plomin R, Potter SC, Pujol RM, Rautanen A, Riveira-Munoz E, Ryan AW, Salmhofer W, Samuelsson L, Sawcer SJ, Schalkwijk J, Smith CH, Ståhle M, Su Z, Tazi-Ahnini R, Traupe H, Viswanathan AC, Warren RB, Weger W, Wolk K, Wood N, Worthington J, Young HS, Zeeuwen PL, Hayday A, Burden AD, Griffiths CE, Kere J, Reis A, McVean G, Evans DM, Brown MA, Barker JN, Peltonen L, Donnelly P, Trembath RC: (2010) A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet. 2010;42(11): 985-90
Bolton KL, Tyrer J, Song H, Ramus SJ, Notaridou M, Jones C, Sher T, Gentry-Maharaj A, Wozniak E, Tsai YY, Weidhaas J, Paik D, Van Den Berg DJ, Stram DO, Pearce CL, Wu AH, Brewster W, Anton-Culver H, Ziogas A, Narod SA, Levine DA, Kaye SB, Brown R, Paul J, Flanagan J, Sieh W, McGuire V, Whittemore AS, Campbell I, Gore ME, Lissowska J, Yang HP, Medrek K, Gronwald J, Lubinski J, Jakubowska A, Le ND, Cook LS, Kelemen LE, Brook-Wilson A, Massuger LF, Kiemeney LA, Aben KK, van Altena AM, Houlston R, Tomlinson I, Palmieri RT, Moorman PG, Schildkraut J, Iversen ES, Phelan C, Vierkant RA, Cunningham JM, Goode EL, Fridley BL, Kruger-Kjaer S, Blaeker J, Hogdall E, Hogdall C, Gross J, Karlan BY, Ness RB, Edwards RP, Odunsi K, Moyisch KB, Baker JA, Modugno F, Heikkinenen T, Butzow R, Nevanlinna H, Leminen A, Bogdanova N, Antonenkova N, Doerk T, Hillemanns P, Dürst M, Runnebaum I, Thompson PJ, Carney ME, Goodman MT, Lurie G, Wang-Gohrke S, Hein R, Chang-Claude J, Rossing MA, Cushing-Haugen KL, Doherty J, Chen C, Rafnar T, Besenbacher S, Sulem P, Stefansson K, Birrer MJ, Terry KL, Hernandez D, Cramer DW, Vergote I, Amant F, Lambrechts D, Despierre E, Fasching PA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Australian Ovarian Cancer Study Group , Australian Cancer Study (Ovarian Cancer) , Ovarian Cancer Association Consortium , Johnatty SE, Webb PM, Beesley J, Chanock S, Garcia-Closas M, Sellers T, Easton DF, Berchuck A, Chenevix-Trench G, Pharoah PD, Gayther SA: (2010) Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet. 2010;42(10): 880-4
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K: (2010) Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010;42(11): 1021-6
Hammer C, Fasching PA, Loehberg CR, Rauh C, Ekici AB, Jud SM, Bani MR, Beckmann MW, Strick R, Niesler B: (2010) Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy. Pharmacogenomics. 2010;11(7): 943-50
Muschler MA, Hillemacher T, Kraus C, Kornhuber J, Bleich S, Frieling H: (2010) DNA methylation of the POMC gene promoter is associated with craving in alcohol dependence. J Neural Transm. 2010;117(4): 513-9
Hüffmeier U, Bergboer JG, Becker T, Armour JA, Traupe H, Estivill X, Riveira-Munoz E, Mossner R, Reich K, Kurrat W, Wienker TF, Schalkwijk J, Zeeuwen PL, Reis A: (2010) Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. J Invest Dermatol. 2010;130(4): 979-84
Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Gramer G, Wissinger B, Weisschuh N: (2010) Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. J Glaucoma. 2010;19(2): 136-41
Smigiel R, Szafranska A, Czyzewska M, Rauch A, Zweier Ch, Patkowski D: (2010) Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. J Appl Genet. 2010;51(1): 111-3
Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV, Cornelia Kraus , Ekici AB, Reis A, Rauch A: (2010) Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat. 2010;31(6): 722-33
Hüffmeier U, Estivill X, Riveira-Munoz E, Traupe H, Wendler J, Lohmann J, Böhm B, Burkhardt H, Reis A: (2010) Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients. Ann Rheum Dis. 2010;69(5): 876-8
Uebe S, Pasutto F, Krumbiegel M, Schanze D, Ekici AB, Reis A: (2010) GPFrontend and GPGraphics: graphical analysis tools for genetic association studies. BMC Bioinformatics. 2010;11(): 472
Choi JS, Cheng X, Foster E, Leffler A, Tyrrell L, Te Morsche RH, Eastman EM, Jansen HJ, Huehne K, Nau C, Dib-Hajj SD, Drenth JP, Waxman SG: (2010) Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia. Brain. 2010;133(Pt 6): 1823-35
Fletcher O, Johnson N, Dos Santos Silva I, Orr N, Ashworth A, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Burwinkel B, Bartram CR, Meindl A, Schmutzler RK, Cox A, Brock I, Elliott G, Reed MW, Southey MC, Smith L, Spurdle AB, Hopper JL, Couch FJ, Olson JE, Wang X, Fredericksen Z, Schürmann P, Waltes R, Bremer M, Dörk T, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Hall P, Czene K, Humphreys K, Liu J, Ahmed S, Dunning AM, Maranian M, Pharoah PD, Chenevix-Trench G, kConFab Investigators , AOCS Group , Beesley J, Bogdanova NV, Antonenkova NN, Zalutsky IV, Anton-Culver H, Ziogas A, Brauch H, Ko YD, Hamann U, GENICA Consortium , Fasching PA, Strick R, Ekici AB, Beckmann MW, Giles GG, Severi G, Baglietto L, English DR, Milne RL, Benitez J, Arias JI, Pita G, Nordestgaard BG, Bojesen SE, Flyger H, Kang D, Yoo KY, Noh DY, Mannermaa A, Kataja V, Kosma VM, Garcia-Closas M, Chanock S, Lissowska J, Brinton LA, Chang-Claude J, Wang-Gohrke S, Broeks A, Schmidt MK, van Leeuwen FE, Van't Veer LJ, Margolin S, Lindblom A, Humphreys MK, Morrison J, Platte R, Easton DF, Peto J, Breast Cancer Association Consortium: (2010) Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiol Biomarkers Prev. 2010;19(9): 2143-51
Teupser D, Baber R, Ceglarek U, Scholz M, Illig T, Gieger C, Holdt LM, Leichtle A, Greiser KH, Huster D, Linsel-Nitschke P, Schafer A, Braund PS, Tiret L, Stark K, Raaz-Schrauder D, Fiedler GM, Wilfert W, Beutner F, Gielen S, Grosshennig A, König IR, Lichtner P, Heid IM, Kluttig A, El Mokhtari NE, Rubin D, Ekici AB, Reis A, Garlichs CD, Hall AS, Matthes G, Wittekind C, Hengstenberg C, Cambien F, Schreiber S, Werdan K, Meitinger T, Loeffler M, Samani NJ, Erdmann J, Wichmann HE, Schunkert H, Thiery J: (2010) Genetic regulation of serum phytosterol levels and risk of coronary artery disease. Circ Cardiovasc Genet. 2010;3(4): 331-9
Griffin HR, Töpf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA: (2010) Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart. 2010;96(20): 1651-5
Pasutto F, Reis A: (2010) No Evidence of Association of Heterozygous NTF4 Mutations in Patients with Primary Open-Angle Glaucoma Response Am J Hum Genet. 2010;86(3): 500-500
Raaz-Schrauder D, Klinghammer L, Ekici AB, Herrmann M, Daniel WG, Reis A, Garlichs CD: (2010) INSTABILITY OF CORONARY PLAQUES IS CLINICALLY AND ANGIOGRAPHICALLY ASSOCIATED WITH SPECIFIC CRP-RECEPTOR SUBTYPE Atheroscler Suppl. 2010;11(2): P91 -
Raaz-Schrauder D, Ekici AB, Cicha I, Klinghammer L, Herrmann M, Daniel WG, Reis A, Garlichs CD: (2010) ROLE OF FC chi RIIa GENOTYPE FOR THE PROINFLAMMATORY EFFECTS OF C-REACTIVE PROTEIN ON HUMAN ENDOTHELIAL CELLS Atheroscler Suppl. 2010;11(2): W19 -
Hüffmeier U, Traupe H, Mossner R, Reich K, Kurrat W, Estivill X, Riveira-Munoz E, Wendler J, Lohmann J, Böhm B, Burkhardt H, Reis A: (2010) Deletion of LCE3C and LCE3B genes at PSORS4 contributes to susceptibility to psoriasis vulgaris but not to psoriatic arthritis in German patients Exp Dermatol. 2010;19(2): 178-178
Smigiel R, Bednarczyk D, Laczmanski L, Rauch A, Zweier C, Patkowski D, Laczmanska I: (2010) Study of a Hirschsprung's Disease Patient Cohort Using Multiplex Ligation-Dependent Probe Amplification Adv Clin Exp Med. 2010;19(1): 83-88
Ekici AB, Hilfinger D, Jatzwauk M, Thiel CT, Wenzel D, Lorenz I, Boltshauser E, Goecke TW, Staatz G, Morris-Rosendahl DJ, Sticht H, Hehr U, Reis A, Rauch A: (2010) Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. Mol Syndromol. 2010;1(3): 99-112
Allanson JE, Bohring A, Dörr HG, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz CP, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M: (2010) The face of Noonan syndrome: Does phenotype predict genotype. Am J Med Genet A. 2010;152A(8): 1960-6
Flotho C, Batz C, Hasle H, Bergsträsser E, van den Heuvel-Eibrink MM, Zecca M, Niemeyer CM, Zenker M: (2010) Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML. Blood. 2010;115(4): 913
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M: (2010) Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat. 2010;31(9): 992-1002
Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F, Gesselschaft für Paediatrische Nephrologie (GPN) Study Group: (2010) Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant. 2010;25(9): 2970-6
Vulpoi C, Zenker M, Grigoras M, Poeata I, Indrei A, Vasiliu L, Idriceanu J, Mogos V, Rusu C: (2010) Clinical variability of LEOPARD syndrome: Study of a new family Endocr J. 2010;57 Suppl. (): S620-S620
Mautner VF, Nguyen R, Bernhard A, von Kodolitsch Y, Zenker M, Kutsche K: (2010) Neuro-cardio-facio-cutaneous syndromes. Overlapping phenotypes with a shared molecular pathway interdisciplinary health management Med. Genet.. 2010;22(1): 10-19
Fabretto A, Kutsche K, Harmsen MB, Demarini S, Gasparini P, Fertz MC, Zenker M: (2010) Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Eur J Med Genet. 2010;53(5): 322-4
Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T: (2010) Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A. 2010;152A(1): 4-24
Milne RL, Gaudet MM, Spurdle AB, Fasching PA, Couch FJ, Benitez J, Arias Pérez JI, Zamora MP, Malats N, Dos Santos Silva I, Gibson LJ, Fletcher O, Johnson N, Anton-Culver H, Ziogas A, Figueroa J, Brinton L, Sherman ME, Lissowska J, Hopper JL, Dite GS, Apicella C, Southey MC, Sigurdson AJ, Linet MS, Schonfeld SJ, Freedman DM, Mannermaa A, Kosma VM, Kataja V, Auvinen P, Andrulis IL, Glendon G, Knight JA, Weerasooriya N, Cox A, Reed MW, Cross SS, Dunning AM, Ahmed S, Shah M, Brauch H, Ko YD, Bruning T, GENICA Network , Lambrechts D, Reumers J, Smeets A, Wang-Gohrke S, Hall P, Czene K, Liu J, Irwanto AK, Chenevix-Trench G, Holland H, kConFab , AOCS , Giles GG, Baglietto L, Severi G, Bojensen SE, Nordestgaard BG, Flyger H, John EM, West DW, Whittemore AS, Vachon C, Olson JE, Fredericksen Z, Kosel M, Hein R, Vrieling A, Flesch-Janys D, Heinz J, Beckmann MW, Heusinger K, Ekici AB, Haeberle L, Humphreys MK, Morrison J, Easton DF, Pharoah PD, Garcia-Closas M, Goode EL, Chang-Claude J: (2010) Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study. Breast Cancer Res. 2010;12(6): R110
Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nürnberg G, Nurnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R: (2010) Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. Hum Mutat. 2010;31(9): 1059-68
Zweier C, de Jong EK, Oortveld MAW, Zweier M, Reis A, Rauch A, Schenck A: (2010) From human mutations in CNTNAP2/Nrx-IV and NRXN1/Nrx-1 underlying a wide spectrum of brain disorders to a joint synaptic mechanism in Drosophila J Neurogenet. 2010;24 1(): 13-14
Mkrtchyan H, Gross M, Hinreiner S, Polytiko A, Manvelyan M, Mrasek K, Kosyakova N, Ewers E, Nelle H, Liehr T, Bhatt S, Thoma K, Gebhart E, Wilhelm S, Fahsold R, Volleth M, Weise A: (2010) The human genome puzzle - the role of copy number variation in somatic mosaicism. Curr Genomics. 2010;11(6): 426-31
Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, De Paepe AM, Loeys BL: (2010) Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet. 2010;18(8): 895-901

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