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Publikationen 2011

Wissenschaftliche Originalarbeiten

  1. Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L (2011) Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. American Journal of Human Genetics 88:788-795.
  1. Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Nöthen MM, Schumacher J, Reis A (2011) Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. European Journal of Human Genetics19:1161-1166.
  1. Alexander M, Schlesinger M, Jantscheff P, Massing U, Bendas G (2011) Lysophosphatidylcholine (LPC) as a pharmacological molecule for the reduction of tumor cell adhesion and metastasis. International Journal of Clinical Pharmacology and Therapeutics 49:75-77.
  1. Amstadter AB, Balachandar V, Bergen SE, Ceulemans S, Christensen JH, Cole J, Dagdan E, De Luca V, Ducci F, Tee SF, Hartz S, Keers R, Medland S, Melas PA, Mühleisen TW, Ozomaro U, Pidsley R, Scott AP, Sha L, Talati A, Teltsh O, Videtic A, Wang K, Wong CC, Delisi LE (2011) Selected summaries from the XVII World Congress of Psychiatric Genetics, San Diego, California, USA, 4-8 November 2009: Addendum. Psychiatric Genetics 21:55-55.
  1. Aretz S, Vasen JFA, Olschwang S (2011) Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). European Journal of Human Genetics 19: doi:10.1038/ejhg.2011.7.
  1. Bartels E, Draaken M, Kazmierczak B, Spranger S, Schramm C, Baudisch F, Nöthen MM, Schmiedeke E, Ludwig M, Reutter H (2011) De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation. Cytogenetic and Genome Research 134:243-248.
  1. Baumüller S, Herwig MC, Mangold E, Holz FG, Loeffler KU (2011) Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li-Fraumeni syndrome. British Journal of Ophthalmology 95:1470-1478.
  1. Becker T, Herold C, Meesters C, Mattheisen M, Baur MP (2011) Significance levels in genome-wide interaction analysis (GWIA). Annals of Human Genetics 75:29-35.
  1. Belmonte Mahon P, Pirooznia M, Goes FS, Seifuddin F, Steele J, Lee PH, Huang J, Hamshere ML; Bipolar Genome Study (BiGS) Consortium, The Wellcome Trust Case Control Consortium Bipolar Disorder Group, Depaulo JR Jr, Kelsoe JR, Rietschel M, Nöthen M, Cichon S, Gurling H, Purcell S, Smoller JW, Craddock N, Schulze TG, McMahon FJ, Potash JB, Zandi PP (2011) Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder. American Journal of Medical Genetics B Neuropsychiatric Genetics 156B:370-378.
  1. Boehringer S, van der Lijn F, Liu F, Günther M, Sinigerova S, Nowak S, Ludwig KU, Herberz R, Klein S, Hofman A, Uitterlinden AG, Niessen WJ, Breteler MM, van der Lugt A, Würtz RP, Nöthen MM, Horsthemke B, Wieczorek D, Mangold E*, Kayser M* (2011) Genetic determination of human facial morphology: links between cleft-lips and normal variation. European Journal of Human Genetics 19:1192-1197. *These authors contributed equally.
  1. Breuer R, Hamshere ML, Strohmaier J, Mattheisen M, Degenhardt F, Meier S, Paul T, O’Donovan MC, Mühleisen TW, Schulze TG, Nöthen MM, Cichon S, Craddock N, Rietschel M (2011) Independent evidence for the selective influence of GABAA receptors on one component of the bipolar disorder phenotype. Molecular Psychiatry 16:587-589.
  1. Brockschmidt A*, Filippi A*, Charbel Issa P, Nelles M, Urbach H, Eter N, Driever W, Weber RG (2011) Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. Human Genetics 130:645-655. *These authors contributed equally.
  1. Brockschmidt FF, Heilmann S, Ellis JA, Eigelshoven S, Hanneken S, Herold C, Moebus S, Alblas MA, Lippke B, Kluck N, Priebe L, Degenhardt FA, Jamra RA, Meesters C, Jöckel KH, Erbel R, Harrap S, Schumacher J, Fröhlich H, Kruse R, Hillmer AM, Becker T, Nöthen MM (2011) Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness. British Journal of Dermatology 165:1293-1302.
  1. Butterworth AS, Braund PS, Farrall M, Hardwick RJ, Saleheen D, Peden JF, Soranzo N, Chambers JC, Sivapalaratnam S, Kleber ME, Keating B, Qasim A, Klopp N, Erdmann J, Assimes TL, Ball SG, Balmforth AJ, Barnes TA, Basart H, Baumert J, Bezzina CR, Boerwinkle E, Boehm BO, Brocheton J, Bugert P, Cambien F, Clarke R, Codd V, Collins R, Couper D, Cupples LA, de Jong JS, Diemert P, Ejebe K, Elbers CC, Elliott P, Fornage M, Franzosi MG, Frossard P, Garner S, Goel A, Goodall AH, Hengstenberg C, Hunt SE, Kastelein JJ, Klungel OH, Klüter H, Koch K, König IR, Kooner AS, Laaksonen R, Lathrop M, Li M, Liu K, McPherson R, Musameh MD, Musani S, Nelson CP, O’Donnell CJ, Ongen H, Papanicolaou G, Peters A, Peters BJ, Potter S, Psaty BM, Qu L, Rader DJ, Rasheed A, Rice C, Scott J, Seedorf U, Sehmi JS, Sotoodehnia N, Stark K, Stephens J, van der Schoot CE, van der Schouw YT, Thorsteinsdottir U, Tomaszewski M, van der Harst P, Vasan RS, Wilde AA, Willenborg C, Winkelmann BR, Zaidi M, Zhang W, Ziegler A, de Bakker PI, Koenig W, Mätz W, Trip MD, Reilly MP, Kathiresan S, Schunkert H, Hamsten A, Hall AS, Kooner JS, Thompson SG, Thompson JR, Deloukas P, Ouwehand WH, Watkins H, Danesh J, Samani NJ, IBC 50K CAD Consortium [Collaborators: Barnes T, Rafelt S, Codd V, Tomaszewski M, Ouwehand WH, Bruinsma N, Dekker LR, Henriques JP, Koch KT, de Winter RJ, Alings M, Allaart CF, Gorgels AP, Verheugt FW, Braund PS, Thompson JR, Samani NJ, Mueller M, Meisinger C, DerOhannessian S, Mehta NN, Ferguson J, Hakonarson H, Matthai W, Wilensky R, Hopewell JC, Parish S, Linksted P, Notman J, Gonzalez H, Young A, Ostley T, Munday A, Goodwin N, Verdon V, Shah S, Cobb L, Edwards C, Mathews C, Gunter R, Benham J, Davies C, Cobb M, Cobb L, Crowther J, Richards A, Silver M, Tochlin S, Mozley S, Clark S, Radley M, Kourellias K, Silveira A, Söderholm B, Olsson P, Barlera S, Tognoni G, Rust S, Assmann G, Heath S, Zelenika D, Gut I, Green F, Farrall M, Peden J, Goel A, Ongen H, Franzosi MG, Lathrop M, Seedorf U, Clarke R, Collins R, Hamsten A, Watkins H, Aly A, Anner K, Björklund K, Blomgren G, Cederschiöld B, Danell-Toverud K, Eriksson P, Grundstedt U, Hamsten A, Heinonen M, Hellénius ML, van’t Hooft F, Husman K, Lagercrantz J, Larsson A, Larsson M, Mossfeldt M, Mälarstig A, Olsson G, Sabater-Lleal M, Sennblad B, Silveira A, Strawbridge R, Söderholm B, Öhrvik J, Zaman KS, Mallick NH, Azhar M, Samad A, Ishaq M, Shah N, Samuel M, Schunkert H, König IR, Kathiresan S, Reilly M, Assimes TL, Holm H, Preuss M, Stewart AF, Barbalic M, Gieger C, Absher D, Aherrahrou Z, Allayee H, Altshuler D, Anand S, Andersen K, Anderson JL, Ardissino D, Ball SG, Balmforth AJ, Barnes TA, Becker LC, Becker DM, Berger K, Bis JC, Boekholdt SM, Boerwinkle E, Braund PS, Brown MJ, Burnett MS, Buysschaert I, Carlquist JF, Chen L, Codd V, Davies RW, Dedoussis G, Dehghan A, Demissie S, Devaney J, Do R, Doering A, El Mokhtari NE, Ellis SG, Elosua R, Engert JC, Epstein S, de Faire U, Fischer M, Folsom AR, Freyer J, Gigante B, Girelli D, Gretarsdottir S, Gudnason V, Gulcher JR, Tennstedt S, Halperin E, Hammond N, Hazen SL, Hofman A, Horne BD, Illig T, Iribarren C, Jones GT, Jukema JW, Kaiser MA, Kaplan LM, Kastelein JJ, Khaw KT, Knowles JW, Kolovou G, Kong A, Laaksonen R, Lambrechts D, Leander K, Li M, Lieb W, Diemert P, Lettre G, Loley C, Lotery AJ, Mannucci PM, Maouche S, Martinelli N, McKeown PP, Meisinger C, Meitinger T, Melander O, Merlini PA, Mooser V, Morgan T, Mühleisen TW, Muhlestein JB, Musunuru K, Nahrstaedt J, Nelson CP, Nöthen MM, Olivieri O, Peyvandi F, Patel RS, Patterson CC, Peters A, Qu L, Quyyumi AA, Rader DJ, Rallidis LS, Rice C, Roosendaal FR, Rubin D, Salomaa V, Sampietro ML, Sandhu MS, Schadt E, Schäfer A, Schillert A, Schreiber S, Schrezenmeir J, Schwartz SM, Siscovick DS, Sivananthan M, Sivapalaratnam S, Smith AV, Smith TB, Snoep JD, Soranzo N, Spertus JA, Stark K, Stefansson K, Stirrups K, Stoll M, Tang WH, Thorgeirsson G, Thorleifsson G, Tomaszewski M, Uitterlinden AG, van Rij AM, Voight BF, Wareham NJ, AWells G, Wichmann HE, Willenborg C, Witteman JC, Wright BJ, Ye S, Ziegler A, Cambien F, Goodall AH, Cupples LA, Quertermous T, März W, Hengstenberg C, Blankenberg S, Ouwehand WH, Hall AS, Deloukas P, Thorsteinsdottir U, Roberts R, Thompson JR, O’Donnell CJ, McPherson R, Erdmann J, Samani NJ, Onland-Moret NC, van Setten J, de Bakker PI, Verschuren WM, Boer JM, Wijmenga C, Hofker MH, Maitland-van der Zee AH, de Boer A, Grobbee DE, Attwood T, Belz S, Braund P, Cambien F, Cooper J, Crisp-Hihn A, Diemert P, Deloukas P, Foad N, Erdmann J, Goodall AH, Gracey J, Gray E, Gwilliams R, Heimerl S, Hengstenberg C, Jolley J, Krishnan U, Lloyd-Jones H, Lugauer I, Lundmark P, Maouche S, Moore JS, Muir D, Murray E, Nelson CP, Neudert J, Niblett D, O’Leary K, Ouwehand WH, Pollard H, Rankin A, Rice CM, Sager H, Samani NJ, Sambrook J, Schmitz G, Scholz M, Schroeder L, Schunkert H, Syvannen AC, Tennstedt S, Wallace C] (2011) Large-scale gene-centric analysis identifies novel variants for coronary artery disease. PLoS Genetics 7:e1002260.
  1. Carrai M, Steinke V, Vodicka P, Pardini B, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Gorgens H, Stemmler S, Betz B, Kloor M, Engel C, Buttner R, Naccarati A, Vodickova L, Novotny J, Stein A , Hemminki K, Propping P, Forsti A, Canzian F, Barale R, Campa D (2011) Association between TAS2R38 gene polymorphisms and colorectal cancer risk: A case-control study in two independent populations of Caucasian origin. PLOS ONE 6:e20464.
  1. Chen X, Lee G, Maher BS, Fanous AH, Chen J, Zhao Z, Guo A, van den Oord E, Sullivan PF, Shi J, Levinson DF, Gejman PV, Sanders A, Duan J, Owen MJ, Craddock NJ, O’Donovan MC, Blackman J, Lewis D, Kirov GK, Qin W, Schwab S, Wildenauer D, Chowdari K, Nimgaonkar V, Straub RE, Weinberger DR, O’Neill FA, Walsh D, Bronstein M, Darvasi A, Lencz T, Malhotra AK, Rujescu D, Giegling I, Werge T, Hansen T, Ingason A, Nöthen MM, Rietschel M, Cichon S, Djurovic S, Andreassen OA, Cantor RM, Ophoff R, Corvin A, Morris DW, Gill M, Pato CN, Pato MT, Macedo A, Gurling HM, McQuillin A, Pimm J, Hultman C, Lichtenstein P, Sklar P, Purcell SM, Scolnick E, St Clair D, Blackwood DH, Kendler KS, GROUP investigators, the International Schizophrenia Consortium (2011) GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia. Molecular Psychiatry 16:1117-1129.
  1. Cichon S*, Mühleisen TW*, Degenhardt FA, Mattheisen M, Miró X, Strohmaier J, Steffens M, Meesters C, Herms S, Weingarten M, Priebe L, Haenisch B, Alexander M, Vollmer J, Breuer R, Schmäl C, Tessmann P, Moebus S, Wichmann HE, Schreiber S, Müller-Myhsok B, Lucae S, Jamain S, Leboyer M, Bellivier F, Etain B, Henry C, Kahn JP, Heath S; Bipolar Disorder Genome Study (BiGS) Consortium, Hamshere M, O’Donovan MC, Owen MJ, Craddock N, Schwarz M, Vedder H, Kammerer-Ciernioch J, Reif A, Sasse J, Bauer M, Hautzinger M, Wright A, Mitchell PB, Schofield PR, Montgomery GW, Medland SE, Gordon SD, Martin NG, Gustafsson O, Andreassen O, Djurovic S, Sigurdsson E, Steinberg S, Stefansson H, Stefansson K, Kapur-Pojskic L, Oruc L, Rivas F, Mayoral F, Chuchalin A, Babadjanova G, Tiganov AS, Pantelejeva G, Abramova LI, Grigoroiu-Serbanescu M, Diaconu CC, Czerski PM, Hauser J, Zimmer A, Lathrop M, Schulze TG, Wienker TF, Schumacher J, Maier W, Propping P, Rietschel M*, Nöthen MM* (2011) Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. American Journal of Human Genetics 88:372-381. *These authors contributed equally.
  1. Cremer T, Propping P (2011) Ziele und Grenzen der Quantifizierung genetischer Risiken. [Goals and limitations of the quantification of genetic risks] Medizinische Genetik 23:385-399.
  1. Culic V, Betz RC, Refke M, Fumic K, Pavelic J (2011) Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene. European Journal of Medical Genetics 54:205-208.
  1. Czamara D, Bruder J, Becker J, Bartling J, Hoffmann P, Ludwig KU, Müller-Myhsok B, Schulte-Körne G (2011) Association of a rare variant with mismatch negativity in a region between KIAA0319 and DCDC2 in dyslexia. Behavior Genetics 41:110-119.
  1. de Assis NA, Nowak S, Ludwig KU, Reutter H, Vollmer J, Heilmann S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A, Knapp M, Wienker TF, Kramer FJ, Hoffmann P, Nöthen MM, Mangold E (2011) SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in Central European patients. International Journal of Pediatric Otorhinolaryngology 75:49-52.
  1. Denayer E , Chmara M, Brems H, Kievit AM, van Bever Y, Van den Ouweland AMW , Van Minkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, Beert E, Ishizaki T, Mori T, Keymolen K, Van den Ende J, Mangold E, Peltonen S, Brice G, Rankin J, Van Spaendonck-Zwarts KY, Yoshimura A, Legius E (2011) Legius syndrome in fourteen families. Human Mutation 32:E1985-E1998.
  1. Dobbins SE Broderick P, Melin B, Feychting M, Johansen C, Andersson U, Brännström T, Schramm J, Olver B, Lloyd A, Ma YP, Hosking FJ, Lönn S, Ahlbom A, Henriksson R, Schoemaker MJ, Hepworth SJ, Hoffmann P, Mühleisen TW, Nöthen MM, Moebus S, Eisele L, Kosteljanetz M, Muir K, Swerdlow A, Simon M, Houlston RS (2011) Common variation at 10p12.31 near MLLT10 influences meningioma risk. Nature Genetics 43:825-827.
  1. Dong L, Bilbao A, Laucht M, Henriksson R, Yakovleva T, Ridinger M, Desrivieres S, Clarke TK, Lourdusamy A, Smolka MN, Cichon S, Blomeyer D, Treutlein J, Perreau-Lenz S, Witt S, Leonardi-Essmann F, Wodarz N, Zill P, Soyka M, Albrecht U, Rietschel M, Lathrop M, Bakalkin G, Spanagel R, Schumann G (2011) Effects of the circadian rhythm gene period 1 (Per1) on psychosocial stress-induced alcohol drinking. American Journal of Psychiatry 168:1090-1098.
  1. Draaken M, Giesen CA, Kesselheim AL, Jabs R, Aretz S, Kugaudo M, Chrzanowska KH, Krajewska-Walasek M, Ludwig M (2011) Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Human Genetics 129:513-519.
  1. Ebert AK, Falkert A, Hofstädter A, Reutter H, Rösch WH (2011) Pregnancy management in women within the bladder-exstrophy-epispadias complex (BEEC) after continent urinary diversion. Archives of Gynecology and Obstetrics 284:1043-1046.
  1. Eggermann T, Gamerdinger U, Schubert R, Spengler S, Scholz M, Hansmann D, Tariverdian G, Baudis M, Schwanitz G (2011) Supernumerary asymmetric dic(15;15) with secondary mosaic formation in one of two developmentally retarded twins International Journal of Human Genetics 11:75-82.
  1. Erhardt A, Czibere L, Roeske D, Lucae S, Unschuld PG, Ripke S, Specht M, Kohli MA, Kloiber S, Ising M, Heck A, Pfister H, Zimmermann P, Lieb R, Pütz B, Uhr M, Weber P, Deussing JM, Gonik M, Bunck M, Keßler MS, Frank E, Hohoff C, Domschke K, Krakowitzky P, Maier W, Bandelow B, Jacob C, Deckert J, Schreiber S, Strohmaier J, Nöthen M, Cichon S, Rietschel M, Bettecken T, Keck ME, Landgraf R, Müller-Myhsok B, Holsboer F, Binder EB (2011) TMEM132D, a new candidate for anxiety phenotypes: evidence from human and mouse studies. Molecular Psychiatry 16:647-663.
  1. Erk S, Meyer-Lindenberg A, Opitz von Boberfeld C, Esslinger C, Schnell K, Kirsch P, Mattheisen M, Mühleisen TW, Cichon S, Witt SH, Rietschel M, Nöthen MM, Walter H (2011) Hippocampal function in healthy carriers of the CLU Alzheimer’s disease risk variant. Journal of Neuroscience 31:18180-18184.
  1. Esslinger C, Kirsch P, Haddad L, Mier D, Sauer C, Erk S, Schnell K, Arnold C, Witt SH, Rietschel M, Cichon S, Walter H, Meyer-Lindenberg A (2011) Cognitive state and connectivity effects of the genome-wide significant psychosis variant in ZNF804A. Neuroimage 54:2514-2523.
  1. Frieling T, Meis K, Kolck UW, Homann J, Hülsdonk A, Haars U, Hertfelder HJ, Oldenburg J, Seidel H, Molderings GJ (2011) Hinweise auf eine gesteigerte Mastzellaktivität bei Patienten mit therapierefraktärem Reizdarmsyndrom. [Evidence for mast cell activation in patients with therapy-resistant irritable Bowel syndrome]. Zeitschrift für Gastroenterologie 49:191-194.
  1. Ghassibe-Sabbagh M, Desmyter L, Langenberg T, Claes F, Boute O, Bayet B, Pellerin P, Hermans K, Backx L, Mansilla MA, Imoehl S, Nowak S, Ludwig KU, Baluardo C, Ferrian M, Mossey PA, Noethen M, Dewerchin M, Francois G, Revencu N, Vanwijck R, Hecht J, Mangold E, Murray J, Rubini M, Vermeesch JR, Poirel HA, Carmeliet P, Vikkula M (2011) FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. American Journal of Human Genetics 88:150-161.
  1. Gonzalez-Carmona MA, Vogt A, Heinicke T, Quasdorff M, Hoffmann P, Yildiz Y, Schneider C, Serwe M, Bartenschlager R, Sauerbruch T, Caselmann WH (2011) Inhibition of hepatitis C virus gene expression by adenoviral vectors encoding antisense RNA in vitro and in vivo. Journal of Hepatology 55:19-28.
  1. Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C (2011) Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Medical Genetics 12:106.
  1. Gullotti L, Czerwitzki J, Kirfel J, Propping P, Rahner N, Steinke V, Kahl P, Engel C, Schule R, Büttner R, Friedrichs N (2011) FHL2 expression in peritumoural fibroblasts correlates with lymphatic metastasis in sporadic but not in HNPCC-associated colon cancer. Laboratory Investigation 91:1695-1705.
  1. Haenisch B, Bönisch H, Cichon S, Allam JP, Novak N, Molderings GJ (2011) Effects of exogenous agmatine in human leukemia HMC-1 and HL-60 cells on proliferation, polyamine metabolism and cell cycle. Leukemia Research 35:1248-1253.
  1. Hanneken S, Rütten A, Eigelshoven S, Braun-Falco M, Pasternack SM, Ruzicka T, Nöthen MM, Betz RC, Kruse R (2011) Morbus Galli-Galli. [Galli-Galli disease]. Hautarzt 62:842-851.
  1. Hansen T, Ingason A, Djurovic S, Melle I, Fenger M, Gustafsson O, Jakobsen KD, Rasmussen HB, Tosato S, Rietschel M, Frank J, Owen M, Bonetto C, Suvisaari J, Thygesen JH, Pétursson H, Lönnqvist J, Sigurdsson E, Giegling I, Craddock N, O’Donovan MC, Ruggeri M, Cichon S, Ophoff RA, Pietiläinen O, Peltonen L, Nöthen MM, Rujescu D, St Clair D, Collier DA, Andreassen OA, Werge T (2011) At-risk variant in TCF7L2 for type II diabetes increases risk of schizophrenia. Biological Psychiatry 70:59-63.
  1. Hardt K, Heick SB, Betz B, Goecke T, Yazdanparast H, Küppers R, Servan K, Steinke V, Rahner N, Morak M, Holinski-Feder E, Engel C, Möslein G, Schackert HK, von Knebel Doeberitz M, Pox C; Propping P; German HNPCC consortium, Hegemann JH, Royer-Pokora B (2011) Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. Familial Cancer 10:273-284.
  1. Håvik B, Le Hellard S, Rietschel M, Lybæk H, Djurovic S, Mattheisen M, Mühleisen TW, Degenhardt F, Priebe L, Maier W, Breuer R, Schulze TG, Agartz I, Melle I, Hansen T, Bramham CR, Nöthen MM, Stevens B, Werge T, Andreassen OA, Cichon S, Steen VM (2011) The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia. Biological Psychiatry 70:35-42.
  1. Hinney A, Scherag A, Jarick I, Albayrak Ö, Pütter C, Pechlivanis S, Dauvermann MR, Beck S, Weber H, Scherag S, Nguyen TT, Volckmar AL, Knoll N, Faraone SV, Neale BM, Franke B, Cichon S, Hoffmann P, Nöthen MM, Schreiber S, Jöckel KH, Wichmann HE, Freitag C, Lempp T, Meyer J, Gilsbach S, Herpertz-Dahlmann B, Sinzig J, Lehmkuhl G, Renner TJ, Warnke A, Romanos M, Lesch KP, Reif A, Schimmelmann BG, Hebebrand J; Psychiatric GWAS Consortium: ADHD subgroup (2011) Genome-wide association study in german patients with attention deficit/hyperactivity disorder. American Journal of Medical Genetics B Neuropsychiatric Genetics 156B:888-897.
  1. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC; Alzheimer’s Disease Neuroimaging Initiative, van Duijn CM, Breteler MM, Ikram MA, DeStefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S; CHARGE consortium, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alpérovitch A, Lathrop M; EADI1 consortium, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snaedal J, Björnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossù P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O’Donovan M, Amouyel P, Williams J (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease. Nature Genetics 43:429-436.
  1. Huhn S, Ingelfinger D, Bermejo JL, Bevier M, Pardini B, Naccarati A, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Pox CP, Goecke T, Kloor M, Loeffler M, Büttner R, Vodickova L, Novotny J, Demir K, Cruciat CM, Renneberg R, Huber W, Niehrs C, Boutros M, Propping P, Vodièka P, Hemminki K, Försti A (2011) Polymorphisms in CTNNBL1 in relation to colorectal cancer with evolutionary implications. International Journal of Molecular Epidemiology and Genetics 2:36-50.
  1. Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, Kristinsson KT, le Roux L, Gustafsson O, Craddock N, Möller HJ, McQuillin A, Muglia P, Cichon S, Rietschel M, Ophoff RA, Djurovic S, Andreassen OA, Pietiläinen OP, Peltonen L, Dempster E, Collier DA, St Clair D, Rasmussen HB, Glenthøj BY, Kiemeney LA, Franke B, Tosato S, Bonetto C, Saemundsen E, Hreidarsson SJ; GROUP Investigators, Nöthen MM, Gurling H, O’Donovan MC, Owen MJ, Sigurdsson E, Petursson H, Stefansson H, Rujescu D, Stefansson K, Werge T (2011) Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. American Journal of Psychiatry 168:408-417.
  1. Ingason A, Rujescu D, Cichon S, Sigurdsson E, Sigmundsson T, Pietiläinen OP, Buizer-Voskamp JE, Strengman E, Francks C, Muglia P, Gylfason A, Gustafsson O, Olason PI, Steinberg S, Hansen T, Jakobsen KD, Rasmussen HB, Giegling I, Möller HJ, Hartmann A, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Bramon E, Kiemeney LA, Franke B, Murray R, Vassos E, Toulopoulou T, Mühleisen TW, Tosato S, Ruggeri M, Djurovic S, Andreassen OA, Zhang Z, Werge T, Ophoff RA; GROUP Investigators, Rietschel M, Nöthen MM, Petursson H, Stefansson H, Peltonen L, Collier D, Stefansson K, St Clair DM (2011) Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Molecular Psychiatry 16:17-25.
  1. Jacquemont S, Birnbaum S, Redler S, Steinbach P, Biancalana V (2011) Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. European Journal of Human Genetics 19: doi:10.1038/ejhg.2011.55.
  1. Jenetzky E, Wijers CHW, Marcelis CM, Zwink N, Reutter H, van Rooij IALM (2011) Bias in patient series with VACTERL association. American Journal of Medical Genetics Part A 155A:2039-2041.
  1. John K K-G*, Brockschmidt FF*, Redler S, Herold C, Hanneken, Sandra, Eigelshoven S, Giehl KA, De Weert J, Lutz G Kruse R, Wolff H, Blaumeiser B, Böhm M, Becker T, Nöthen MM, Betz RC (2011) Genetic variants in CTLA4 are strongly associated with alopecia areata. Journal of Investigative Dermatology 131:1169-1172. *These authors contributed equally to this work.
  1. Kähler AK, Djurovic S, Rimol LM, Brown AA, Athanasiu L, Jönsson EG, Hansen T, Gústafsson O, Hakan H, Giegling I, Muglia P, Cichon S, Rietschel M, Pietiläinen OPH, Peltonen L, Bramon E, Collier D, StClair D, Sigurdsson E, Petursson H, Rujescu D, Melle I, Werge T, Steen VM, Dale AM, Matthews RT, Agartz I, Andreassen OA (2011) Candidate gene analysis of the HNK-1 pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area. Biological Psychiatry 69:90-96.
  1. Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, Schackert HK, Steinke V, Holinski-Feder E, Morak M, Kloor M, Büttner R, Verwiel ET, van Krieken JH, Nagtegaal ID, Goossens M, van der Post RS, Niessen RC, Sijmons RH, Kluijt I, Hogervorst FB, Leter EM, Gille JJ, Aalfs CM, Redeker EJ, Hes FJ, Tops CM, van Nesselrooij BP, van Gijn ME, Gómez García EB, Eccles DM, Bunyan DJ, Syngal S, Stoffel EM, Culver JO, Palomares MR, Graham T, Velsher L, Papp J, Oláh E, Chan TL, Leung SY, van Kessel AG, Kiemeney LA, Hoogerbrugge N, Ligtenberg MJ (2011) Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncology 12:49-55.
  1. Kiefer F, Witt SH, Frank J, Richter A, Treutlein J, Lemenager T, Nöthen MM, Cichon S, Batra A, Berner M, Wodarz N, Zimmermann US, Spanagel R, Wiedemann K, Smolka MN, Heinz A, Rietschel M, Mann K (2011) Involvement of the atrial natriuretic peptide transcription factor GATA4 in alcohol dependence, relapse risk and treatment response to acamprosate. Pharmacogenomics Journal 11:368-374.
  1. Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S (2011) . Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. American Journal of Human Genetics 88:70-75.
  1. Koch P, Breuer P, Peitz M, Jungverdorben J, Kesavan J, Poppe D, Doerr J, Ladewig J, Mertens J, Tüting T, Hoffmann P, Klockgether T, Evert BO, Wüllner U, Brüstle O (2011) Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Nature 480:543-548.
  1. König IR, Schumacher J, Hoffmann P, Kleensang A, Ludwig KU, Grimm T, Neuhoff N, Preis M, Roeske D, Warnke A, Propping P, Remschmidt H, Nöthen MM, Ziegler A, Müller-Myhsok B, Schulte-Körne G (2011) Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21. American Journal of Medical Genetics Part B Neuropsychiatric Genetics 156B:36-43.
  1. Kohli MA, Lucae S, Saemann PG, Schmidt MV, Demirkan A, Hek K, Czamara D, Alexander M, Salyakina D, Ripke S, Hoehn D, Specht M, Menke A, Hennings J, Heck A, Wolf C, Ising M, Schreiber S, Czisch M, Müller MB, Uhr M, Bettecken T, Becker A, Schramm J, Rietschel M, Maier W, Bradley B, Ressler KJ, Nöthen MM, Cichon S, Craig IW, Breen G, Lewis CM, Hofman A, Tiemeier H, van Duijn CM, Holsboer F, Müller-Myhsok B, Binder EB (2011) The neuronal transporter gene SLC6A15 confers risk to major depression. Neuron 70:252-265.
  1. Kohonen-Corish MR, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RG, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, Maglott D, Møller P, Morreau H, Möslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CM, Weber TK, de Wind N, Woods MO; Contributors to the InSiGHT-HVP Workshop (2011) Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Human Mutation 32:491-494.
  1. Krug A, Markov V, Krach S, Jansen A, Zerres K, Eggermann T, Stöcker T, Shah NJ, Nöthen MM, Georgi A, Strohmaier J, Rietschel M, Kircher T (2011) Genetic variation in G72 correlates with brain activation in the right middle temporal gyrus in a verbal fluency task in healthy individuals. Human Brain Mapping 32:118-126.
  1. Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D (2011) Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. American Journal of Medical Genetics Part A 155A:1857-64.
  1. Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ (2011) Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Human Mutation 32:407-414.
  1. Leon CA, Schumacher J, Kluck N, Herold C, Schulze TG, Propping P, Rietschel M, Cichon S, Nöthen MM, Abou Jamra R (2011) Association study of the GRIA1 and CLINT1 (Epsin 4) genes in a German schizophrenia sample. Psychiatric Genetics 21:114-114.
  1. Lipman PJ, Yip WK, AlChawa T, Ludwig KU, Mangold E, Lange C (2011) On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium. Genetic Epidemiology 35:880-886.
  1. Maerzheuser S, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Schmiedeke E, Schwarzer N, Spychalski N, Goetz G, Schmidt D (2011) German network for congenital uro-rectal malformations: first evaluation and interpretation of postoperative urological complications in anorectal malformations. Pediatric Surgery International 27:1085-1089.
  1. Malhotra D, McCarthy S, Michaelson JJ, Vacic V, Burdick KE, Yoon S, Cichon S, Corvin A, Gary S, Gershon ES, Gill M, Karayiorgou M, Kelsoe JR, Krastoshevsky O, Krause V, Leibenluft E, Levy DL, Makarov V, Bhandari A, Malhotra AK, McMahon FJ, Nöthen MM, Potash JB, Rietschel M, Schulze TG, Sebat J (2011) High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron 72:951-63.
  1. Matsson H, Tammimies K, Zucchelli M, Anthoni H, Onkamo P, Nopola-Hemmi J, Lyytinen H, Leppanen PH, Neuhoff N, Warnke A, Schulte-Körne G, Schumacher J, Nöthen MM, Kere J, Peyrard-Janvid M (2011) SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations. Behavior Genetics 41:134-140.
  1. McMahon FJ, Akula N, Cichon S, Detera-Wadleigh SD, Edenberg H, Holsboer F, Nöthen MM, Nurnberger JI, Potash J, Preisig M, Rietschel M, Schulze TG (2011) Replication of association of 3p21.1 with susceptibility to bipolar disorder but not major depression Reply. Nature Genetics 43:5-5.
  1. Minnerop M, Weber B, Schoene-Bake JC, Roeske S, Mirbach S, Anspach C, Schneider-Gold C, Betz RC, Helmstaedter C, Tittgemeyer M, Klockgether T, Kornblum C (2011) The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. Brain 134:3527-3543.
  1. Molderings GJ, Homann J, Raithel M, Frieling T (2011) Toward a global classification of mast cell activation diseases. Journal of Allergy and Clinical Immunology 127:1311-1311.
  1. Molderings GJ, Raithel M, Kratz F, Azemar M, Haenisch B, Harzer S, Homann J (2011) Omalizumab treatment of systemic mast cell activation disease: experiences from four cases. Internalal Medicine 50, 611-615.
  1. Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G (2011) Phenotypic spectrum associated with CASK loss-of-function mutations. Journal of Medical Genetics 48:741-751.
  1. Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E, the German HNPCC Consortium (2011) Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. Journal of Medical Genetics 48:513-519.
  1. Mühleisen TW, Basmanav FB, Forstner AJ, Mattheisen M, Priebe L, Herms S, Breuer R, Moebus S, Nenadic I, Sauer H, Mössner R, Maier W, Rujescu D, Ludwig M, Rietschel M, Nöthen MM, Cichon S (2011) Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. Schizophrenia Research 127:35-40.
  1. Noeker M, Schmitz M, Schmiedeke E, Zwink N, Reutter H, Schmidt D, Jenetzky E (2011) Medical predictors of psychological anxieties in VATER patients. Pediatric Surgery International 27:1079-1083.
  1. Oschatz C, Maas C, Lecher B, Jansen T, Björkqvist J, Tradler T, Sedlmeier R, Burfeind P, Cichon S, Hammerschmidt S, Müller-Esterl W, Wuillemin WA, Nilsson G, Renné T (2011) Mast cells increase vascular permeability by heparin-initiated bradykinin formation in vivo. Immunity 34:258-268.
  1. Pabst S, Golebiewski M, Herms S, Karpushova A, Díaz-Lacava A, Walier M, Zimmer S, Cichon S, Wienker TF, Nöthen MM, Nickenig G, Meyer R, Skowasch D, Grohé C (2011) Caspase recruitment domain 15 gene haplotypes in sarcoidosis. Tissue Antigens 77:333-337.
  1. Pernhorst K, Raabe A, Niehusmann P, van Loo KM, Grote A, Hoffmann P, Cichon S, Sander T, Schoch S, Becker AJ (2011) Promoter variants determine gamma-aminobutyric acid homeostasis-related gene transcription in human epileptic hippocampi. Journal of Neuropathology and Experimental Neurology 70:1080-1088.
  1. Pütter C, Pechlivanis S, Nöthen MM, Jöckel KH, Wichmann HE, Scherag A (2011) Missing heritability in the tails of quantitative traits? A simulation study on the impact of slightly altered true genetic models. Human Heredity 72:173-181.
  1. Qi L, Chen K, Hur DJ, Yagnik G, Lakshmanan Y, Kotch LE, Ashrafi GH, Martinez-Murillo F, Kowalski J, Naydenov C, Wittler L, Gearhart JP, Draaken M, Reutter H, Ludwig M, Boyadjiev SA (2011) Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. International Journal of Molecular Medicine 27:755-65.
  1. Qiu JH, Hutter P, Rahner N, Patton S, Olschwang S (2011) The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome. Human Mutation 32:696-697.
  1. Raithel M, Zopf Y, Kimpel S, Naegel A, Molderings GJ, Buchwald F, Schultis HW, Kressel J, Hahn EG, Konturek P (2011) The measurement of leukotrienes in urine as diagnostic option in systemic mastocytosis. Journal of Physiology and Pharmacology 62:469-472.
  1. Redler S, Birch MP, Drichel D, Dobson K, Brockschmidt FF, Tazi-Ahnini R, Giehl KA, Kluck N, Kruse R, Lutz G, Wolff H, Becker T, Nöthen MM, Messenger AG, Betz RC (2011) Investigation of variants of the aromatase gene (CYP19A1) in female pattern hair loss. British Journal of Dermatology 165:703-705.
  1. Redler S, Kruse R, Eigelshoven S, Hanneken S, Refke M, Wen Y, Zhang X, Cichon S, Betz RC, Nöthen MM (2011) Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report. Journal of the American Academy of Dermatology 64:e45-e50.
  1. Refke M, Pasternack SM, Fiebig B, Wenzel S, Ishorst N, Ludwig M, Nöthen MM, Seyger MM, Hamel BC, Betz RC (2011) Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay. British Journal of Dermatology 165:1127-1132.
  1. Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R, Schröder A, Boemers TM, Bartels E, Vogt H, Utsch B, Müller M, Detlefsen B, Zwink N, Rogenhofer S, Gobet R, Beckers GM, Bökenkamp A, Kajbafzadeh AM, Jaureguizar E, Draaken M, Lakshmanan Y, Gearhart JP, Ludwig M, Nöthen MM, Jenetzky E (2011) Phenotype severity in the exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. Journal of Pediatrics 159:825-831.
  1. Ripke S, Sanders AR, Kendler KS, Levinson DF, Sklar P, Holmans PA, Lin DY, Duan J, Ophoff RA, Andreassen OA, Scolnick E, Cichon S, St Clair D, Corvin A, Gurling H, Werge T, Rujescu D, Blackwood DH, Pato CN, Malhotra AK, Purcell S, Dudbridge F, Neale BM, Rossin L, Visscher PM, Posthuma D, Ruderfer DM, Fanous A, Stefansson H, Steinberg S, Mowry BJ, Golimbet V, De Hert M, Jönsson EG, Bitter I, Pietiläinen OP, Collier DA, Tosato S, Agartz I, Albus M, Alexander M, Amdur RL, Amin F, Bass N, Bergen SE, Black DW, Børglum AD, Brown MA, Bruggeman R, Buccola NG, Byerley WF, Cahn W, Cantor RM, Carr VJ, Catts SV, Choudhury K, Cloninger CR, Cormican P, Craddock N, Danoy PA, Datta S, de Haan L, Demontis D, Dikeos D, Djurovic S, Donnelly P, Donohoe G, Duong L, Dwyer S, Fink-Jensen A, Freedman R, Freimer NB, Friedl M, Georgieva L, Giegling I, Gill M, Glenthøj B, Godard S, Hamshere M, Hansen M, Hansen T, Hartmann AM, Henskens FA, Hougaard DM, Hultman CM, Ingason A, Jablensky AV, Jakobsen KD, Jay M, Jürgens G, Kahn RS, Keller MC, Kenis G, Kenny E, Kim Y, Kirov GK, Konnerth H, Konte B, Krabbendam L, Krasucki R, Lasseter VK, Laurent C, Lawrence J, Lencz T, Lerer FB, Liang KY, Lichtenstein P, Lieberman JA, Linszen DH, Lönnqvist J, Loughland CM, Maclean AW, Maher BS, Maier W, Mallet J, Malloy P, Mattheisen M, Mattingsdal M, McGhee KA, McGrath JJ, McIntosh A, McLean DE, McQuillin A, Melle I, Michie PT, Milanova V, Morris DW, Mors O, Mortensen PB, Moskvina V, Muglia P, Myin-Germeys I, Nertney DA, Nestadt G, Nielsen J, Nikolov I, Nordentoft M, Norton N, Nöthen MM, O’Dushlaine CT, Olincy A, Olsen L, O’Neill FA, Orntoft TF, Owen MJ, Pantelis C, Papadimitriou G, Pato MT, Peltonen L, Petursson H, Pickard B, Pimm J, Pulver AE, Puri V, Quested D, Quinn EM, Rasmussen HB, Réthelyi JM, Ribble R, Rietschel M, Riley BP, Ruggeri M, Schall U, Schulze TG, Schwab SG, Scott RJ, Shi J, Sigurdsson E, Silverman JM, Spencer CC, Stefansson K, Strange A, Strengman E, Stroup TS, Suvisaari J, Terenius L, Thirumalai S, Thygesen JH, Timm S, Toncheva D, van den Oord E, van Os J, van Winkel R, Veldink J, Walsh D, Wang AG, Wiersma D, Wildenauer DB, Williams HJ, Williams NM, Wormley B, Zammit S, Sullivan PF, O’Donovan MC, Daly MJ, Gejman PV [The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium] (2011) Genome-wide association study identifies five new schizophrenia loci. Nature Genetics 43:969-976.
  1. Roeske D*, Ludwig KU*, Neuhoff N, Becker J, Bartling J, Bruder J, Brockschmidt FF, Warnke A, Remschmidt H, Hoffmann P, Müller-Myhsok B, Nöthen MM and Schulte-Körne G (2011) First genome-wide association scan on neurophysiological endophenotypes points to transregulation-effects on SLC2A3 in dyslexic children. Molecular Psychiatry 16:97-107. *Authors contributed equally
  1. Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O’Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145:513-528.
  1. Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nöthen MM, Ludwig M, Reutter H (2011) De novo microduplication at 22q11.21 in a patient with VACTERL association. European Journal of Medical Genetics 54:9-13.
  1. Schramm C*, Draaken M*, Bartels E, Boemers TM, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Baudisch F, Priebe L, Hoffmann P, Zink AM, Engels H, Brockschmidt FF, Aretz S, Nöthen MM, Ludwig M, Reutter H (2011) De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. American Journal of Medical Genetics Part A 155A:445-449. *Authors contributed equally.
  1. Schultz CC, Nenadic I, Koch K, Wagner G, Roebel M, Schachtzabel C, Mühleisen TW, Nöthen MM, Cichon S, Deufel T, Kiehntopf M, Rietschel M, Reichenbach JR, Sauer H, Schlösser RG (2011) Reduced cortical thickness is associated with the glutamatergic regulatory gene risk variant DAOA Arg30Lys in schizophrenia. Neuropsychopharmacology 36:1747-1753.
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Übersichtsarbeiten / Bücher / Kommentare

 

  1. Aretz S (2011) Familiäre adenomatöse Polyposis und andere Polyposis-Syndrome – humangenetischer Blickwinkel [Familial adenomatous polyposis and other polyposis syndromes – the human genetics point of view]. Viszeralmedizin 27:281-289.
  1. Bergen SE, Balhara YPS, Christoforou A, Cole J, Degenhardt F, Dempster E, Fatjo-Vilas M, Khedr Y, Lopez LM, Lysenko L, McGrath LM, Mühleisen TW, Neves FS, Nymberg C, Ozomaro U, Verweij KJH, Voineskos AN, Zai CC, O’Shea, A, DeLisi LE (2011) Summaries from the XVIII World Congress of Psychiatric Genetics, Athens, Greece, 3-7 October 2010. Psychiatric Genetics 21:136-172.
  1. Cremer T, Propping P (2011) Ziele und Grenzen der Quantifizierung genetischer Risiken. [Goals and limitations of the quantification of genetic risks]. Medizinische Genetik 23:385-399.
  1. Eggermann T, Schwanitz G (2011) Genetics of Down syndrome. In: Genetics and etiology of Down syndrome. Intech (Open access book), ISBN 978-953-307-631-7:1-32.
  1. Freitag C, Grimm T, Nöthen M, Maier W, Deckert J, Hassler F, Falkai P (2011) Bedeutung des neuen Gendiagnostikgesetzes für die Kinder- und Jugendpsychiatrie, -psychosomatik und –psychotherapie sowie die Psychiatrie, Psychosomatik und Psychotherapie. [Importance of the new genetic testing law for the child and adolescent psychiatry, psychosomatic medicine and psychotherapy and psychiatry, psychosomatic medicine and psychotherapy]. Nervenarzt 4:526-528.
  1. Haenisch B, Bönisch H (2011) Depression and antidepressants: Insights from knockout of dopamine, serotonin or noradrenaline re-uptake transporters. Pharmacology and Therapeutics 129:352-368. Review
  1. Mangold E, Ludwig KU, Nöthen MM (2011) Breakthroughs in the genetics of orofacial clefting. Trends in Molecular Medicine 17:725-733. Review
  1. Molderings GJ, Brettner S, Homann J, Afrin LB (2011) Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. Journal of Hematology and Oncology 4, 10. Review
  1. Schramm C, Draaken M, Tewes G, Bartels E, Schmiedeke E, Märzheuser S, Grasshoff-Derr S, Hosie S, Holland-Cunz S, Priebe L, Kreiß-Nachtsheim M, Hoffmann P, Aretz S, Nöthen MM, Reutter H, Ludwig M (2011) Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature. European Journal of Pediatrics 170:741-746. Review
  1. Schumacher J, Kristensen AS, Wendland JR, Nöthen MM, Mors O, McMahon FJ (2011) The genetics of panic disorder. Journal of Medical Genetics 48:361-368. Review
  1. Schwanitz G (2011) Endoreduplikationen beim Menschen. Entwicklung der Forschung über 50 Jahre. Zeitschrift für Phytotherapie 32:122-126.
  1. Steinke V, Propping P (2011) Lynch-Syndrom – deutsche Erfahrungen [Lynch syndrome – experiences from Germany]. Viszeralmedizin 27:275-280.
  1. Stuhrmann-Spangenberg M, Engels H, Fritz B, Gabriel H, Gläser D, Henn W, Liehr T, Miller K, Rieder H (2011) S2-Leitlinie Humangenetische Diagnostik [S2-guideline human genetic diagnostic]. Medizinische Genetik 23, 281-323.