Publikationen 2012
Wissenschaftliche Originalarbeiten
- Adhikari K, AlChawa T, Ludwig K, Mangold E, Laird
N, Lange C (2012) Is it rare or common? Genetic Epidemiology 36:419-429.
- Antal AS, Kulichova D, Redler S, Betz RC, Ruzicka
T (2012) Steatocystoma multiplex: keratin 17 – the key player? British Journal of Dermatology
167:1395-1397.
- Anthoni
H, Sucheston LE, Lewis BA, Tapia-Páez I, Fan X, Zucchelli M, Taipale M,
Stein CM, Hokkanen ME, Castrén E, Pennington BF, Smith SD, Olson RK,
Tomblin JB, Schulte-Körne G, Nöthen M, Schumacher J, Müller-Myhsok B,
Hoffmann P, Gilger JW, Hynd GW, Nopola-Hemmi J, Leppanen PH, Lyytinen H,
Schoumans J, Nordenskjöld M, Spencer J, Stanic D, Boon WC, Simpson E,
Mäkelä S, Gustafsson JÅ, Peyrard-Janvid M, Iyengar S, Kere J (2012) The
Aromatase Gene CYP19A1: Several genetic and functional lines of evidence
supporting a role in reading, speech and language. Behavior Genetics
42:509-527.
- Bartels
E, Jenetzky E, Solomon BD, Ludwig M, Schmiedeke E, Grasshoff-Derr S,
Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M,
Leonhardt J, Schäfer M, Kujath C, Rißmann A, Nöthen MM, Reutter H, Zwink N
(2012) Inheritance of the VATER/VACTERL association. Pediatric Surgery
International 28:681-685.
- Bartels
E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CH, Marcelis CM, Stressig
R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken M, Hoffmann P, Hilger AC,
Dworschak GC, Baudisch F, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel
A, Berg C, Bartmann P, Nöthen MM, van Rooij IA, Solomon BD, Reutter HM
(2012) VATER/VACTERL association: identification of seven new twin pairs,
a systematic review of the literature, and a classical twin analysis.
Clinical Dysmorphology 21:191-195.
- Becker AA, Graeser MK, Landwehr C, Hilger T, Baus
W, Wappenschmidt B, Meindl A, Weber RG*, Schmutzler RK* (2012) A 24-color
metaphase-based radiation assay discriminates heterozygous BRCA2 mutation
carriers from controls by chromosomal radiosensitivity. Breast Cancer Research
and Treatment 135:167-175. *These authors contributed equally as senior
authors.
- Becker J, Czamara D, Hoffmann P, Landerl K,
Blomert L, Brandeis D, Vaessen A, Maurer U, Moll K, Ludwig KU,
Müller-Myhsok B, M, Schulte-Körne G, Schumacher J (2012) Evidence for the
involvement of ZNF804A in cognitive processes of relevance to reading and
spelling. Translation
Psychiatry 2:e136.
- Becker J*, Wendland JR*, Haenisch B, Nöthen MM,
Schumacher J (2012) A systematic eQTL study of cis-trans epistasis in 210
HapMap individuals. European Journal of Human Genetics 20:97-101. *Authors
contributed equally to this work.
- Begemann M, Spengler S, Gogiel M, Grasshoff U,
Bonin M, Betz RC, Dufke A, Spier I, Eggermann T (2012) Clinical
significance of copy number variations in the 11p15.5 imprinting control
regions: new cases and review of the literature. Journal of Medical Genetics
49:547-553.
- Berner AL, Bagci S, Wohlleber E, Engels E, Müller
A, Bartmann P, Weber RG, Reutter H (2012) Familial translocation
t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p:
Report of a new case and review of the literature. Cytogenetic and Genome Research
136:308-313.
- Betz RC, Cabral RM, Christiano AM, Sprecher E
(2012) Unveiling the roots of monogenic genodermatoses: genotrichoses as a
paradigm. Journal
of Investigative Dermatology 132:906-914.
- Bis JC,
DeCarli C, Smith AV, van der Lijn F, Crivello F, Fornage M, Debette S,
Shulman JM, Schmidt H, Srikanth V, Schuur M, Yu L, Choi SH, Sigurdsson S,
Verhaaren BF, DeStefano AL, Lambert JC, Jack CR Jr, Struchalin M,
Stankovich J, Ibrahim-Verbaas CA, Fleischman D, Zijdenbos A, den Heijer T,
Mazoyer B, Coker LH, Enzinger C, Danoy P, Amin N, Arfanakis K, van Buchem
MA, de Bruijn RF, Beiser A, Dufouil C, Huang J, Cavalieri M, Thomson R,
Niessen WJ, Chibnik LB, Gislason GK, Hofman A, Pikula A, Amouyel P,
Freeman KB, Phan TG, Oostra BA, Stein JL, Medland SE, Vasquez AA, Hibar
DP, Wright MJ, Franke B, Martin NG, Thompson PM; Enhancing Neuro Imaging
Genetics through Meta-Analysis Consortium [Mattheisen M, Mühleisen TW,
Nöthen MM, Cichon S], Nalls MA, Uitterlinden AG, Au R, Elbaz A, Beare RJ,
van Swieten JC, Lopez OL, Harris TB, Chouraki V, Breteler MM, De Jager PL,
Becker JT, Vernooij MW, Knopman D, Fazekas F, Wolf PA, van der Lugt A,
Gudnason V, Longstreth WT Jr, Brown MA, Bennett DA, van Duijn CM, Mosley
TH, Schmidt R, Tzourio C, Launer LJ, Ikram MA, Seshadri S; Cohorts for
Heart and Aging Research in Genomic Epidemiology Consortium (2012) Common
variants at 12q14 and 12q24 are associated with hippocampal volume. Nature
Genetics 44:545-551.
- Bogdanović R, Kuburović V, Stajić N, Mughal SS,
Hilger A, Ninić S, Prijić S, Ludwig M (2012) Liddle syndrome in a Serbian
family and literature review of underlying mutations. European Journal of Pediatrics
171:471-478. Review.
- Brockschmidt A*, Chung B*, Weber S, Fischer DC,
Kolatsi-Joannou M, Christ L, Heimbach A, Shtiza D, Klaus G, Simonetti GD,
Konrad M, Winyard P, Haffner D, Schaefer F, Weber RG (2012) CHD1L: a new
candidate gene for congenital anomalies of the kidneys and urinary tract
(CAKUT). Nephrology Dialysis Transplantation 27:2355-2364. *These authors
contributed equally to this work.
- Brockschmidt A, Trost D, Peterziel H, Zimmermann
K, Ehrler M, Grassmann H, Pfenning PN, Waha A, Wohlleber D, Brockschmidt
FF, Jugold M, Hoischen A, Kalla C, Waha A, Seifert G, Knolle -PA, Latz E,
Hans VH, Wick W, Pfeifer A, Angel P, Weber RG (2012) KIAA1797/FOCAD
encodes a novel focal adhesion protein with tumour suppressor function in
gliomas. Brain
135:1027-1041.
- Broderick
P, Chubb D, Johnson DC, Weinhold N, Försti A, Lloyd A, Olver B, Ma YP,
Dobbins SE, Walker BA, Davies FE, Gregory WA, Child JA, Ross FM, Jackson
GH, Neben K, Jauch A, Hoffmann P, Mühleisen TW, Nöthen MM, Moebus S,
Tomlinson IP, Goldschmidt H, Hemminki K, Morgan GJ, Houlston RS (2012)
Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.
Nature Genetics 44:58-61.
- Carrera
N, Arrojo M, Sanjuán J, Ramos-Ríos R, Paz E, Suárez-Rama JJ, Páramo M,
Agra S, Brenlla J, Martínez S, Rivero O, Collier DA, Palotie A, Cichon S,
Nöthen MM, Rietschel M, Rujescu D, Stefansson H, Steinberg S, Sigurdsson
E, St Clair D, Tosato S, Werge T, Stefansson K, González JC, Valero J,
Gutiérrez-Zotes A, Labad A, Martorell L, Vilella E, Carracedo Á, Costas J
(2012) Association study of nonsynonymous single nucleotide polymorphisms
in schizophrenia. Biological Psychiatry 71: 169-177.
- Christoforou A, Dondrup M, Mattingsdal M,
Mattheisen M, Giddaluru S, Nöthen MM, Rietschel M, Cichon S, Djurovic S,
Andreassen OA, Jonassen I, Steen VM, Puntervoll P, Le Hellard S (2012)
Linkage-disequilibrium-based binning affects the interpretation of GWASs. American Journal of Human
Genetics 90:727-733.
- Christoforou A, Mattheisen M, Giddaluru S, Steen
VM, Le Hellard S (2012) Response to Zhu et al. Zhu X, Feng T, Elston RC
(2012) Linkage-disequilibrium-based binning misleads the interpretation of
genome-wide association studies. American Journal of Human Genetics
90:965-968]. American Journal of Human Genetics 90:969-970.
- Degenhardt F, Priebe L, Herms S, Mattheisen M,
Mühleisen TW, Meier S, Moebus S, Strohmaier J, Groß M, Breuer R, Lange C,
Hoffmann P, Meyer-Lindenberg A, Heinz A, Walter H, Lucae S, Wolf C,
Müller-Myhsok B, Holsboer F, Maier W, Rietschel M, Nöthen MM, Cichon S
(2012) Association between copy number variants in 16p11.2 and major
depressive disorder in a German case-control sample. American Journal of Medical
Genetics Part B 159B:263-273.
- Derks EM, Vorstman JA, Ripke S, Kahn RS;
Schizophrenia Psychiatric Genomic Consortium [Cichon S, Mattheisen M,
Nöthen S], Ophoff RA (2012) Investigation of the genetic association
between quantitative measures of psychosis and schizophrenia: a polygenic
risk score analysis. PLoS One 7:e37852.
- Draaken M, Prins W, Zeidler C, Hilger A, Mughal
SS, Latus J, Boemers TM, Schmidt D, Schmiedeke E, Spychalski N, Bartels E,
Nöthen MM, Reutter H, Ludwig M (2012) Involvement of the WNT and FGF
signaling pathways in non-isolated anorectal malformations: sequencing
analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene. International Journal of
Molecular Medicine 30:1459-1464.
- Ebert AK, Kliesch S, Neissner C, Reutter H, Rösch
WH (2012) Testicular tumors in patients with exstrophy-epispadias complex.
Journal
of Urology 188:1300-1305.
- Ebert
AK, Reutter H, Neissner C, Rösch W (2012) Transition von Jugendlichen mit
Blasenekstrophie-Epispadie Komplex in die Erwachsenenmedizin: Implikationen
des Langzeitverlaufes für das Management [Transition of adolescents with
the exstrophy-epispadias complex to adult medicine: Influence of long-term
outcome results on management]. Klinische Pädiatrie 224:455-460.
- Eggermann T, Spengler S, Gamerdinger U, Denecke
B, Grimm S, Grimm M, Schubert R, Schwanitz G (2012) Duplication
3q13.11q23: Longitudinal study in a patient over a period of more than 7
years and refinements of the breakpoints. Journal of Pediatric Genetics 2:143-147.
- Engel
C, Loeffler M, Steinke V, Rahner N, Holinski-Feder E, Dietmaier W,
Schackert HK, Goergens H, von Knebel Doeberitz M, Goecke TO, Schmiegel W,
Buettner R, Moeslein G, Letteboer TG, García EG, Hes FJ, Hoogerbrugge N,
Menko FH, van Os TA, Sijmons RH, Wagner A, Kluijt I, Propping P, Vasen HF
(2012) Risks of less common cancers in proven mutation carriers with lynch
syndrome. Journal of Clinical Oncology 30:4409-4415.
- Engels
H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler
M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam
RCM, Rudnik-Schöneborn S, Kreiß-Nachtsheim M, Reutter H (2012) A phenotype
map for 14q32.3 terminal deletions. American Journal of Medical Genetics
Part A 158A:695-706.
- Ersland KM, Christoforou A, Stansberg C, Espeseth
T, Mattheisen M, Mattingsdal M, Hardarson GA, Hansen T, Fernandes CP,
Giddaluru S, Breuer R, Strohmaier J, Djurovic S, Nöthen MM, Rietschel M,
Lundervold AJ, Werge T, Cichon S, Andreassen OA, Reinvang I, Steen VM, Le
Hellard S (2012) Gene-based analysis of regionally enriched cortical genes
in GWAS data sets of cognitive traits and psychiatric disorders. PLoS ONE 7: e31687.
- Etain B, Dumaine A, Bellivier F, Pagan C,
Francelle L, Goubran-Botros H, Moreno S, Deshommes J, Moustafa K, Le Dudal
K, Mathieu F, Henry C, Kahn JP, Launay JM, Mühleisen TW, Cichon S,
Bourgeron T, Leboyer M, Jamain S (2012) Genetic and functional
abnormalities of the melatonin biosynthesis pathway in patients with
bipolar disorder. Human
Molecular Genetics 21:4030-4037.
- Falk A, Koch P, Kesavan J, Takashima Y, Ladewig
J, Alexander M, Wiskow O, Tailor J, Trotter M, Pollard S, Smith A, Brüstle
O (2012) Capture of neuroepithelial-like stem cells from pluripotent stem
cells provides a versatile system for in vitro production of human
neurons. PLoS
ONE 7:e29597.
- Fier H, Won S, Prokopenko D, AlChawa T, Ludwig
KU, Fimmers R, Silverman EK, Pagano M, Mangold E, Lange C (2012)
'Location, Location, Location': a spatial approach for rare variant
analysis and an application to a study on non-syndromic cleft lip with or
without cleft palate. Bioinformatics 28:3027-3033.
- Fischer
B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H,
Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano
RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E,
Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U (2012)
Further characterization of ATP6V0A2-related autosomal recessive cutis
laxa. Human Genetics 131:1761-1773.
- Forstbauer
LM*, Brockschmidt FF*, Moskvina V, Herold C, Redler S, Herzog A, Hillmer
AM, Meesters C, Heilmann S, Albert F, Alblas M, Hanneken S, Eigelshoven S,
Giehl KA, Jagielska D, Blume-Peytavi U, Bartels NG, Kuhn J, Hennies HC,
Goebeler M, Jung A, Peitsch WK, Kortüm AK, Moll I, Kruse R, Lutz G, Wolff
H, Blaumeiser B, Böhm M, Kirov G, Becker T, Nöthen MM, Betz RC (2012)
Genome-wide pooling approach identifies SPATA5 as a new susceptibility
locus for alopecia areata. European Journal of Human
Genetics 20:326-332. *These authors contributed equally to this work.
- Frank J, Cichon S, Treutlein J, Ridinger M,
Mattheisen M, Hoffmann P, Herms S, Wodarz N, Soyka M, Zill P, Maier W,
Mössner R, Gaebel W, Dahmen N, Scherbaum N, Schmäl C, Steffens M, Lucae S,
Ising M, Müller-Myhsok B, Nöthen MM, Mann K, Kiefer F, Rietschel M (2012)
Genome-wide significant association between alcohol dependence and a
variant in the ADH gene cluster. Addiction Biology 17:171-180.
- Gardès P, Forveille M, Alyanakian MA, Aucouturier
P, Ilencikova D, Leroux D, Rahner N, Mazerolles F, Fischer A, Kracker S,
Durandy A (2012) Human MSH6 deficiency is associated with impaired
antibody maturation. Journal of Immunology 188:2023-2029.
- Gerrish
A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R,
Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A,
Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi
P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan
K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA,
Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N,
Rossor M, Collinge J, Maier W, Jessen F, Kölsch H, Heun R, Schürmann B,
Bussche HV, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L,
Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P,
Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam
R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, Shaw
CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus
S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin
SG, Jones L, Holmans PA, O'Donovan MC, Owen MJ, Williams J (2012) The role
of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's
disease. Journal of Alzheimer’s Disease 28:377-387.
- Giard C, Nicolie B, Drouet M, Lefebvre-Lacoeuille
C, Le Sellin J, Bonneau JC, Maillard H, Rénier G, Cichon S, Ponard D,
Drouet C, Martin L (2012) Angio-oedema induced by oestrogen contraceptives
is mediated by bradykinin and is frequently associated with urticaria. Dermatology 225:62-69.
- Giehl
KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P,
Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC*, Strom TM*
(2012) Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma
type Buschke-Fischer-Brauer. American Journal of Human
Genetics 91:754-759. *These authors contributed equally to this work.
- Gladwin TE, Derks EM; Genetic Risk and Outcome of
Psychosis (GROUP), Rietschel M, Mattheisen M, Breuer R, Schulze TG, Nöthen
MM, Levinson D, Shi J, Gejman PV, Cichon S, Ophoff RA (2012) Segment-wise
genome-wide association analysis identifies a candidate region associated
with schizophrenia in three independent samples. PLoS One 7:e38828.
- Gockel HR, Gockel I, Schimanski CC, Schier F,
Schumacher J, Nöthen MM, Lang H, Müller M, Eckardt AJ, Eckardt VF (2012)
Etiopathological aspects of achalasia: lessons learned with Hirschsprung's
disease. Diseases
of the Esophagus 25:566-572.
- Goes
FS, Hamshere ML, Seifuddin F, Pirooznia M, Belmonte-Mahon P, Breuer R,
Schulze T, Nöthen MM, Cichon S, Rietschel M, Holmans P, Zandi PP; Bipolar
Genome Study (BiGS), Craddock N, Potash JB (2012). Genome-wide association of mood-incongruent
psychotic bipolar disorder. Translational Psychiatry 2:e180.
- Hackmann
K, Engels H, Schröck E (2012) Molekulare Karyotypisierung in der
genetischen Diagnostik: Technologien und Anwendungen. Medizinische Genetik
2javascript:setTextFormatInput('strong','form0','text_ger','ger');4:86-93.
- Hammer
C,Mühleisen TW, Haenisch B, Degenhardt F, Mattheisen M, Breuer R, Witt SH,
Strohmaier J, Oruc L, Rivas F, Babadjanova G, Grigoroiu-Serbanescu M,
Hauser J, Röth R, Rappold G, Rietschel M, Nöthen MM, Niesler B (2012)
Replication of functional serotonin receptor type 3A and B variants in
bipolar affective disorder: a European multicenter study. Translation
Psychiatry2:e103.
- Hartz
SM, Short SE, Saccone NL, Culverhouse R, Chen L, Schwantes-An TH, Coon, H,
Han Y, Stephens SH, Sun J, Chen X, Ducci F, Dueker N, Franceschini N,
Frank J, Geller F, Gubjartsson D, Hansel NN, Jiang C, Keskitalo-Vuokko K,
Liu Z, Lyytikäinen LP, Michel M, Rawal R, Rosenberger A, Scheet P, Shaffer
JR, Teumer A, Thompson JR, Vink JM, Vogelzangs N, Wenzlaff AS, Wheeler W,
Xiao X, Yang BZ, Aggen SH, Balmforth AJ, Baumeister SE, Beaty T, Bennett
S, Bergen AW, Boyd HA, Broms U, Campbell H, Chatterjee N, Chen J, Cheng
YC, Cichon S, Couper D, Cucca F, Dick DM, Foroud T, Furberg H, Giegling I,
Gu F, Hall AS, Hällfors J, Han S, Hartmann AM, Hayward C, Heikkilä K,
Hewitt JK, Hottenga JJ, Jensen MK, Jousilahti P, Kaakinen M, Kittner SJ,
Konte B, Korhonen T, Landi MT, Laatikainen T, Leppert M, Levy SM, Mathias
RA, McNeil DW, Medland SE, Montgomery GW, Muley T, Murray T, Nauck M,
North K, Pergadia M, Polasek O, Ramos EM, Ripatti S, Risch A, Ruczinski I,
Rudan I, Salomaa V, Schlessinger D, Styrkársdóttir U, Terracciano A, Uda
M, Willemsen G, Wu X, Abecasis G, Barnes K, Bickeböller H, Boerwinkle E,
Boomsma DI, Caporaso N, Duan J, Edenberg HJ, Francks C, Gejman PV,
Gelernter J, Grabe HJ, Hops H, Jarvelin MR, Viikari J, Kähönen M, Kendler
KS, Lehtimäki T, Levinson DF, Marazita ML, Marchini J, Melbye M, Mitchell
BD, Murray JC, Nöthen MM, Penninx BW, Raitakari O, Rietschel M, Rujescu D,
Samani NJ, Sanders AR, Schwartz AG, Shete S, Shi J, Spitz M, Stefansson K,
Swan GE, Thorgeirsson T, Völzke H, Wei Q, Wichmann HE, Amos CI, Breslau N,
Cannon DS, Ehringer M, Grucza R, Hatsukami D, Heath A, Johnson EO, Kaprio
J, Madden P, Martin NG, Stevens VL, Stitzel JA, Weiss RB, Kraft P, Bierut
LJ (2012) Increased genetic vulnerability to smoking at CHRNA5 in
early-onset smokers. Archives of General Psychiatry 69:854-860.
- Håvik
B, Degenhardt FA, Johansson S, Fernandes CP, Hinney A, Scherag A, Lybæk H,
Djurovic S, Christoforou A, Ersland KM, Giddaluru S, O'Donovan MC, Owen
MJ, Craddock N, Mühleisen TW, Mattheisen M, Schimmelmann BG, Renner T,
Warnke A, Herpertz-Dahlmann B, Sinzig J, Albayrak Ö, Rietschel M, Nöthen
MM, Bramham CR, Werge T, Hebebrand J, Haavik J, Andreassen OA, Cichon S,
Steen VM, Le Hellard S (2012) DCLK1 variants are associated across
schizophrenia and attention deficit/hyperactivity disorder. PLoS One
7:e35424.
- Heindl
M, Händel N, Ngeow J, Kionke J, Wittekind C, Kamprad M, Rensing-Ehl A, Ehl
S, Reifenberger J, Loddenkemper C, Maul J, Hoffmeister A, Aretz S, Kiess
W, Eng C, Uhlig HH (2012). Autoimmunity, intestinal
lymphoid hyperplasia and defects in mucosal B cell homeostasis in PTEN
hamartoma tumor syndrome. Gastroenterology 142:1093-1096.
- Herold C*, Mattheisen M*, Lacour A*,
Vaitsiakhovich T, Angisch M, Drichel D, Becker T (2012) Integrated
genome-wide pathway association analysis with INTERSNP. Human Heredity 73:63-72. *These
authors contributed equally to this work.
- Hilger A, Schramm C, Draaken M, Mughal SS,
Dworschak G, Bartels E, Hoffmann P, Nöthen MM, Reutter H, Ludwig M (2012)
Familial occurrence of the VATER/VACTERL association. Pediatric Surgery International
28:725-729.
- Hoyer J, Ekici AB, Endele S, Popp B, Zweier C,
Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring
I, Zink AM, Rappold G, Schröck E, Wieczorek D, Riess O, Engels H, Rauch A,
Reis A (2012) Haploinsufficiency of ARID1B, a member of the SWI/SNF-A
chromatin-remodeling complex, is a frequent cause of intellectual
disability. American
Journal of Human Genetics 90:565-572.
- Jagielska D, Redler S, Brockschmidt FF, Herold C,
Pasternack SM, Garcia Bartels N, Hanneken S, Eigelshoven S, Refke M, Barth
S, Giehl KA, Kruse R, Lutz G, Wolff H, Blaumeiser B, Böhm M, Blume-Peytavi
U, Becker T, Nöthen MM, Betz RC (2012) Follow-up study of the first
genome-wide association scan in alopecia areata: IL13 and KIAA0350 as
susceptibility loci supported with genome-wide significance. Journal of Investigative
Dermatology 132:2192-2197.
- Jenetzky
E, Reckin S, Schmiedeke E, Schmidt D, Schwarzer N, Grasshoff-Derr S, Zwink
N, Bartels E, Rissmann A, Leonhardt J, Weih S, Obermayr F, Rädecke J,
Palta M, Kosch F, Götz G, Hofbauer A, Schäfer M, Reutter H, Holland-Cunz
S, Märzheuser S (2012) Practice of dilatation after surgical correction in
anorectal malformations. Pediatric Surgery International 28:1095-1099.
- Jostins
L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP,
Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E,
Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T,
Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L,
Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Büning C, Cohain A,
Cichon S, D’Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C,
Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M,
Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen
TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrence IC, Lees
CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri
O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell
RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte
J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C,
Wilson DC, Winkenmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H;
International IBD Genetics Consortium (IIBDGC), Silverberg MS, Annese V,
Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE,
Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC, Cho JH (2012)
Host-microbe interactions have shaped the genetic architecture of
inflammatory bowel disease. Nature 491:119-124.
- Karagiannidis
I, Rizzo R, Tarnok Z, Wolanczyk T, Hebebrand J, Nöthen MM, Lehmkuhl G,
Farkas L, Nagy P, Barta C, Szymanska U, Panteloglou G, Miranda DM, Feng Y,
Sandor P, Barr C; TSGeneSEE, Paschou P (2011) Replication of association between
a SLITRK1 haplotype and Tourette syndrome in a large sample of families.
Molecular Psychiatry 17:665-668.
- Keers R, Pedroso I, Breen G, Aitchison KJ, Nolan
PM, Cichon S, Nöthen MM, Rietschel M, Schalkwyk (2012) Reduced anxiety and
depression-like behaviours in the circadian period mutant mouse
afterhours. PLoS
One 7:e38263.
- Keller MC, Simonson MA, Ripke S, Neale BM, Gejman
PV, Howrigan DP, Lee SH, Lencz T, Levinson DF, Sullivan PF; Schizophrenia
Psychiatric Genome-Wide Association Study Consortium [Cichon S, Nöthen MM,
Mattheisen M] (2012) Runs of homozygosity implicate autozygosity as a
schizophrenia risk factor. PLoS Genetics 8:e1002656.
- Kleffmann W, Zink AM, Lee JA, Senderek J, Mangold
E, Moog U, Rappold GA, Wohlleber E, Engels H (2012) 5q31 microdeletions:
definition of a critical region and analysis of LRRTM2, a candidate gene
for intellectual disability. Molecular Syndromology 3:68-75.
- Krämer B, Körner C, Kebschull M, Glässner A,
Eisenhardt M, Nischalke HD, Alexander M, Sauerbruch T, Spengler U,
Nattermann J (2012) Natural killer p46High expression defines a natural
killer cell subset that is potentially involved in control of hepatitis C
virus replication and modulation of liver fibrosis. Hepatology 56:1201-1213.
- Ladewig J, Mertens J, Kesavan J, Doerr J, Poppe
D, Glaue F, Herms S, Wernet P, Kögler G, Müller F-J, Koch P, Brüstle O
(2012) Small molecules enable highly efficient neuronal conversion of
human fibroblasts. Nature
Methods 9:575-578.
- Lennertz L, Wagner M, Wölwer W, Schuhmacher A,
Frommann I, Berning J, Schulze-Rauschenbach S, Landsberg MW, Steinbrecher
A, Alexander M, Franke PE, Pukrop R, Ruhrmann S, Bechdolf A, Gaebel W,
Klosterkötter J, Häfner H, Maier W, Mössner R (2012) A promoter variant of
SHANK1 affects auditory working memory in schizophrenia patients and in
subjects clinically at risk for psychosis. European Archives of Psychiatry and Clinical
Neuroscience 262:117-124.
- Li M,
Wang Y, Zheng XB, Ikeda M, Iwata N, Luo XJ, Chong SA, Lee J, Rietschel M,
Zhang F, Müller-Myhsok B, Cichon S, Weinberger DR, Mattheisen M, Schulze
TG, Martin NG, Mitchell PB, Schofield PR, Liu JJ, Su B; MooDS Consortium
(2012) Meta-analysis and brain imaging data support the involvement of
VRK2 (rs2312147) in schizophrenia susceptibility. Schizophrenia Research
142:200-205.
- Li R*,
Brockschmidt FF*, Kiefer AK*, Stefansson H*, Nyholt DR*, Song K*,
Vermeulen SH*, Kanoni S*, Glass D, Medland SE, Dimitriou M, Waterworth D,
Tung JY, Geller F, Heilmann S, Hillmer AM, Bataille V, Eigelshoven S, Hanneken
S, Moebus S, Herold C, den Heijer M, Montgomery GW, Deloukas P, Eriksson
N, Heath AC, Becker T, Sulem P, Mangino M, Vollenweider P, Spector TD,
Dedoussis G**, Martin NG** Kiemeney LA** Mooser V** Stefansson K** Hinds
DA** Nöthen MM** Richards JB**(2012) Six novel susceptibility loci for
early-onset androgenetic alopecia and their unexpected association with
common diseases. PLoS Genetics 8:e1002746.
*These authors contributed equally to this work. **These authors also
contributed equally to this work.
- Lin Z,
Chen Q, Shi L, Lee M, Giehl KA, Tang Z, Wang H, Zhang J, Yin J, Wu L, Xiao
R, Liu X, Dai L, Zhu X, Li R, Betz RC, Zhang X, Yang Y (2012)
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal
dysplasia. American Journal of Human Genetics 91:906-911.
- Lu AT, Bakker S, Janson E, Cichon S, Cantor RM,
Ophoff RA (2012) Prediction of serotonin transporter promoter polymorphism
genotypes from single nucleotide polymorphism arrays using machine learning
methods. Psychiatric
Genetics 22:182-188.
- Ludwig
KU*, Mangold E*, Herms S, Nowak S, Reutter H, Paul A, Becker J, Herberz R,
AlChawa T, Nasser E, Böhmer AC, Mattheisen M, Alblas MA, Barth S, Kluck N,
Lauster C, Braumann B, Reich RH, Hemprich A, Pötzsch S, Blaumeiser B,
Daratsianos N, Kreusch T, Murray JC, Marazita ML, Ruczinski I, Scott AF,
Beaty TH, Kramer FJ, Wienker TF, Steegers-Theunissen RP, Rubini M, Mossey
PA, Hoffmann P, Lange C, Cichon S, Propping P, Knapp M, Nöthen MM (2012)
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft
palate identify six new risk loci. Nature Genetics 44:968-971. *These
authors contributed equally to this work.
- Mahmoudi H*, Tug E*, Parlak AH, Atasoy HI, Ludwig
M, Polat M, Pasternack SM**, Betz RC** (2012) Identification of an
alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a
Turkish family with hypotrichosis and woolly hair. Experimental
Dermatology 21:469-471. *These authors contributed equally to this work.
**Senior authors contributed equally to this work.
- Mangold E*, Reutter H*, León-Cachón RB, Ludwig
KU, Herms S, Chacón-Camacho Ó, Ortiz-López R, Paredes-Zenteno M,
Arizpe-Cantú A, Muñoz-Jiménez SG, Nowak S, Kramer FJ, Wienker TF, Nöthen
MM, Knapp M, Rojas-Martínez A* (2012) Evaluating SKI as a candidate gene
for non-syndromic cleft lip with or without cleft palate. European Journal
of Oral Sciences 120:373-377. *These authors contributed equally to this
work.
- Mattheisen M*, Mühleisen TW*, Strohmaier J,
Treutlein J, Nenadic I, Alblas M, Meier S, Degenhardt F, Herms S, Hoffmann
P, Witt SH, Giegling I, Sauer H, Schulze TG, Rujescu D, Nöthen MM,
Rietschel M, Cichon S (2012) Genetic variation at the synaptic vesicle
gene SV2A is associated with schizophrenia. Schizophrenia Research 141:262-265. *These
authors contributed equally to this work.
- Meier
S, Mattheisen M, Vassos E, Strohmaier J, Treutlein J, Josef F, Breuer R,
Degenhardt F, Mühleisen TW, Müller-Myhsok B, Steffens M, Schmael C,
McMahon FJ; Bipolar Disorder Genome Study (BiGS) Consortium, Nöthen MM,
Cichon S, Schulze TG, Rietschel M, Kelsoe JR, Greenwood TA, Nievergelt CM,
Barrett TB, McKinney R, Shilling PD, Schork NJ, Smith EN, Bloss CS,
Nurnberger J, Edenberg HJ, Foroud T, Koller DL, Gershon ES, Liu CY, Badner
JA, Scheftner W, Lawson WB, Nwulia EA, Hipolito M, Coryell W, Rice J,
Byerley W, McMahon F, Chen DT, Schulze TG, Berrettini W, Potash JB, Zandi
PP, Mahon PB, McInnis M, Craig D, Szelinger S (2012) Genome-wide
significant association between a ‘negative mood delusions’ dimension in
bipolar disorder and genetic variation on chromosome 3q26.1. Translational
Psychiatry 2:e165.
- Miró
X*, Meier S*, Dreisow ML, Frank J, Strohmaier J, Breuer R, Schmäl C,
Albayram Ö, Pardo-Olmedilla MT, Mühleisen TW, Degenhardt FA, Mattheisen M,
Reinhard I, Bilkei-Gorzo A, Cichon S, Seidenbecher C, Rietschel M**,
Nöthen MM**, Zimmer A** (2012) Studies in humans and mice implicate
neurocan in the etiology of mania. American
Journal of Psychiatry 169:982-990. *These authors contributed equally to
this work. **These
authors contributed equally as senior authors.
- Molderings
GJ (2012) Physiological, pathophysiological and therapeutic impact of the
enteric serotonergic system. Arzneimittelforschung 62:157-166.
- Molderings
GJ, Haenisch B (2012) Agmatine (decarboxylated l-arginine): physiological
role and therapeutic potential. Pharmacology and Therapeutics 133:351-365.
- Morris
AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV, Steinthorsdottir V,
Strawbridge RJ, Khan H, Grallert H, Mahajan A, Prokopenko I, Kang HM, Dina
C, Esko T, Fraser RM, Kanoni S, Kumar A, Lagou V, Langenberg C, Luan J,
Lindgren CM, Müller-Nurasyid M, Pechlivanis S, Rayner NW, Scott LJ,
Wiltshire S, Yengo L, Kinnunen L, Rossin EJ, Raychaudhuri S, Johnson AD, Dimas
AS, Loos RJ, Vedantam S, Chen H, Florez JC, Fox C, Liu CT, Rybin D, Couper
DJ, Kao WH, Li M, Cornelis MC, Kraft P, Sun Q, van Dam RM, Stringham HM,
Chines PS, Fischer K, Fontanillas P, Holmen OL, Hunt SE, Jackson AU, Kong
A, Lawrence R, Meyer J, Perry JR, Platou CG, Potter S, Rehnberg E,
Robertson N, Sivapalaratnam S, Stančáková A, Stirrups K, Thorleifsson G,
Tikkanen E, Wood AR, Almgren P, Atalay M, Benediktsson R, Bonnycastle LL,
Burtt N, Carey J, Charpentier G, Crenshaw AT, Doney AS, Dorkhan M, Edkins
S, Emilsson V, Eury E, Forsen T, Gertow K, Gigante B, Grant GB, Groves CJ,
Guiducci C, Herder C, Hreidarsson AB, Hui J, James A, Jonsson A, Rathmann
W, Klopp N, Kravic J, Krjutškov K, Langford C, Leander K, Lindholm E,
Lobbens S, Männistö S, Mirza G, Mühleisen TW, Musk B, Parkin M, Rallidis
L, Saramies J, Sennblad B, Shah S, Sigurðsson G, Silveira A, Steinbach G,
Thorand B, Trakalo J, Veglia F, Wennauer R, Winckler W, Zabaneh D,
Campbell H, van Duijn C, Uitterlinden AG, Hofman A, Sijbrands E, Abecasis
GR, Owen KR, Zeggini E, Trip MD, Forouhi NG, Syvänen AC, Eriksson JG,
Peltonen L, Nöthen MM, Balkau B, Palmer CN, Lyssenko V, Tuomi T, Isomaa B,
Hunter DJ, Qi L; Wellcome Trust Case Control Consortium; Meta-Analyses of
Glucose and Insulin-related traits Consortium (MAGIC) Investigators;
Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Asian
Genetic Epidemiology Network–Type 2 Diabetes (AGEN-T2D) Consortium; South
Asian Type 2 Diabetes (SAT2D) Consortium, Shuldiner AR, Roden M, Barroso
I, Wilsgaard T, Beilby J, Hovingh K, Price JF, Wilson JF, Rauramaa R,
Lakka TA, Lind L, Dedoussis G, Njølstad I, Pedersen NL, Khaw KT, Wareham
NJ, Keinanen-Kiukaanniemi SM, Saaristo TE, Korpi-Hyövälti E, Saltevo J,
Laakso M, Kuusisto J, Metspalu A, Collins FS, Mohlke KL, Bergman RN,
Tuomilehto J, Boehm BO, Gieger C, Hveem K, Cauchi S, Froguel P,
Baldassarre D, Tremoli E, Humphries SE, Saleheen D, Danesh J, Ingelsson E,
Ripatti S, Salomaa V, Erbel R, Jöckel KH, Moebus S, Peters A, Illig T, de
Faire U, Hamsten A, Morris AD, Donnelly PJ, Frayling TM, Hattersley AT,
Boerwinkle E, Melander O, Kathiresan S, Nilsson PM, Deloukas P,
Thorsteinsdottir U, Groop LC, Stefansson K, Hu F, Pankow JS, Dupuis J,
Meigs JB, Altshuler D, Boehnke M, McCarthy MI; DIAbetes Genetics Replication
And Meta-analysis (DIAGRAM) Consortium (2012) Large-scale association
analysis provides insights into the genetic architecture and
pathophysiology of type 2 diabetes. Nature Genetics 44:981-990.
- Mühleisen
TW*, Mattheisen M*, Strohmaier J, Degenhardt F, Priebe L, Schultz CC,
Breuer R, Meier S, Hoffmann P; GROUP Investigators, Rivandeneira F, Hofman
A, Uitterlinden AG, Moebus S, Gieger C, Emeny R, Ladwig KH, Wichmann HE,
Schwarz M, Kammerer-Ciernioch J, Schlösser RG, Nenadic I, Sauer H, Mössner
R, Maier W, Rujescu D, Lange C, Ophoff RA, Schulze TG, Rietschel M, Nöthen
MM, Cichon S (2012) Association between schizophrenia and common variation
in neurocan (NCAN), a genetic risk factor for bipolar disorder.
Schizophrenia Research 138:69-73. *These authors contributed equally to
this work.
- Nasser
E, Mangold E, Tradowsky DC, Fier H, Becker J, Boehmer AC, Herberz R,
Fricker N, Barth S, Wahle P, Nowak S, Reutter H, Reich RH, Lauster C,
Braumann B, Kreusch T, Hemprich A, Pötzsch B, Hoffmann P, Kramer FJ, Knapp
M, Lange C, Nöthen MM, Ludwig KU (2012) Resequencing of VAX1 in patients
with nonsyndromic cleft lip with or without cleft palate. Birth Defects
Res A Clinical and Molecular Teratology 94:925-933.
- Naz G,
Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M,
Ahmad W, Betz RC (2012) FZD6 encoding the Wnt receptor frizzled 6 is
mutated in autosomal-recessive nail dysplasia. British Journal of
Dermatology 166:1088-1094.
- Nenadic
I, Maitra R, Scherpiet S, Gaser C, Schultz CC, Schachtzabel C, Smesny S,
Reichenbach JR, Treutlein J, Mühleisen TW, Deufel T, Cichon S, Rietschel
M, Nöthen MM, Sauer H, Schlösser RG (2012) Glutamate receptor delta
(GRID1) genetic variation and brain structure in schizophrenia. Journal of
Psychiatric Research 46:1531-1539.
- Ng KP,
Hillmer AM, Chuah CT, Juan WC, Ko TK, Teo AS, Ariyaratne PN, Takahashi N,
Sawada K, Fei Y, Soh S, Lee WH, Huang JW, Allen JC Jr, Woo XY, Nagarajan
N, Kumar V, Thalamuthu A, Poh WT, Ang AL, Mya HT, How GF, Yang LY, Koh LP,
Chowbay B, Chang CT, Nadarajan VS, Chng WJ, Than H, Lim LC, Goh YT, Zhang
S, Poh D, Tan P, Seet JE, Ang MK, Chau NM, Ng QS, Tan DS, Soda M, Isobe K,
Nöthen MM, Wong TY, Shahab A, Ruan X, Cacheux-Rataboul V, Sung WK, Tan EH,
Yatabe Y, Mano H, Soo RA, Chin TM, Lim WT, Ruan Y, Ong ST (2012) A common
BIM deletion polymorphism mediates intrinsic resistance and inferior
responses to tyrosine kinase inhibitors in cancer. Nature Medicine
18:521-528.
- Nickl-Jockschat
T, Stöcker T, Markov V, Krug A, Huang R, Schneider F, Habel U, Zerres K,
Nöthen MM, Treutlein J, Rietschel M, Shah NJ, Kircher T (2012) The impact
of a Dysbindin schizophrenia susceptibility variant on fiber tract
integrity in healthy individuals: A TBSS-based diffusion tensor imaging
study. NeuroImage 60:847-853.
- Nieuwenhuis
MH, Marleen Kets C, Murphy-Ryan M, Colas C, Möller P, Hes FJ, Hodgson SV,
Olderode-Berends MJ, Aretz S, Heinimann K, Gomez Garcia EB, Douglas F,
Spigelman A, Timshel S, Lindor NM, Vasen HF (2012). Is colorectal
surveillance indicated in patients with PTEN mutations? Colorectal Disease
14:e562-566.
- Nieuwenhuis
MH, Vogt S, Jones N, Nielsen M, Hes FJ, Sampson JR, Aretz S, Vasen HF
(2012). Evidence for accelerated colorectal adenoma-carcinoma progression
in MUTYH-associated polyposis? Gut 61:734-738.
- Paschou
P, Stylianopoulou E, Karagiannidis I, Rizzo R, Tarnok Z, Wolanczyk T,
Hebebrand J, Nöthen MM, Lehmkuhl G, Farkas L, Nagy P, Szymanska U, Lykidis
D, Androutsos C, Tsironi V, Koumoula A, Barta C, Klidonas S, Ypsilantis P,
Simopoulos C; TSGeneSEE Consortium, Skavdis G, Grigoriou M (2012)
Evaluation of the LIM homeobox genes LHX6 and LHX8 as candidates for
Tourette syndrome. Genes Brain and Behavior 11:444-451.
- Pedroso
I, Lourdusamy A, Rietschel M, Nöthen MM, Cichon S, McGuffin P, Al-Chalabi
A, Barnes MR, Breen G (2012) Common genetic variants and gene-expression
changes associated with bipolar disorder are over-represented in brain
signalling pathway genes. Biological Psychiatry 72:311-317.
- Priebe
L, Degenhardt FA, Herms S, Haenisch B, Mattheisen M, Nieratschker V,
Weingarten M, Witt S, Breuer R, Paul T, Alblas M, Moebus S, Lathrop M,
Leboyer M, Schreiber S, Grigoroiu-Serbanescu M, Maier W, Propping P,
Rietschel M, Nöthen MM, Cichon S*, Mühleisen TW* (2012) Genome-wide survey
implicates the influence of copy number variants (CNVs) in the development
of early-onset bipolar disorder. Molecular Psychiatry 17:421-432. *These
authors contributed equally to this work.
- Rahner
N, Brockschmidt FF, Steinke V, Kahl P, Becker T, Vasen HF, Wijnen JT, Tops
CJ, Holinski-Feder E, Ligtenberg MJ, Spruijt L, Görgens H, Stemmler S,
Kloor M, Dietmaier W; Dutch Cancer Genetics Group, Schumacher J, Nöthen
MM, Propping P (2012) Mutation and association analyses of the candidate
genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained
MSH2-deficient tumors. Familial Cancer 11:19-26.
- Rauch
A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B,
Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D,
Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener
A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert
H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess
O, Meitinger T, Reis A, Strom TM (2012) Range of genetic mutations
associated with severe non-syndromic sporadic intellectual disability: an
exome sequencing study. Lancet 380:1674-1682.
- Redler
S, Albert F, Brockschmidt FF, Herold C, Hanneken S, Eigelshoven S, Giehl
KA, Kruse R, Lutz G, Wolff H, Blaumeiser B, Böhm M, Becker T, Nöthen MM,
Betz RC (2012) Investigation of selected cytokine genes suggests that
IL2RA and the TNF/LTA locus are risk factors for severe alopecia areata.
British Journal of Dermatology 167:1360-1365.
- Redler
S, Brockschmidt FF, Tazi-Ahnini R, Drichel D, Birch MP, Dobson K, Giehl
KA, Herms S, Refke M, Kluck N, Kruse R, Lutz G, Wolff H, Böhm M, Becker T,
Nöthen MM, Messenger AG, Betz RC (2012) Investigation of the male pattern
baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female
pattern hair loss. British Journal of Dermatology 166:1314-1318.
- Redler
S, Tazi-Ahnini R, Drichel D, Birch MP, Brockschmidt FF, Dobson K, Giehl
KA, Refke M, Kluck N, Kruse R, Lutz G, Wolff H, Böhm M, Becker T, Nöthen
MM, Betz RC*, Messenger A*(2012) Selected variants of the
steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid
hormone receptors ESR1, ESR2 and PGR: No association with female pattern
hair loss identified. Experimental Dermatology 21:390-393. *These authors
contributed equally to this work.
- Reutter
H, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Eggermann T, Spengler
S, Bartmann P, Rudnik-Schöneborn S (2012) Primary pulmonary hypertension,
congenital heart defect, central nervous system malformations, hypo- and
aplastic toes: another case of Yunis-Varón syndrome or report of a new
entity. European Journal of Medical Genetics 55:27-31.
- Rietschel
M*, Mattheisen M*, Degenhardt F, Genetic Risk and Outcome in Psychosis
(GROUP Investigators), Mühleisen TW, Kirsch P, Esslinger C, Herms S,
Demontis D, Steffens M, Strohmaier J, Haenisch B, Breuer R, Czerski PM,
Giegling I, Strengman E, Schmael C, Mors O, Mortensen PB, Hougaard DM,
Ørntoft T, Kapelski P, Priebe L, Basmanav FF, Forstner AJ, Hoffman P,
Meier S, Nikitopoulos J, Moebus S, Alexander M, Mössner R, Wichmann H-,
Schreiber S, Rivandeneira F, Hofman A, Uitterlinden AG, Wienker TF,
Schumacher J, Hauser J, Maier W, Cantor RM, Erk S, Schulze TG; SGENE-plus
Consortium, Craddock N, Owen MJ, O'Donovan MC, Børglum AD, Rujescu D,
Walter H, Meyer-Lindenberg A, Nöthen NM**, Ophoff RA**, Cichon S** (2012)
Association between genetic variation in a region on chromosome 11 and
schizophrenia in large samples from Europe. Molecular Psychiatry
17:906-917. *These authors contributed equally to this work. **These
authors contributed equally to this work.
- Roos A,
Schwanitz G, Diepolder I, Senderek J, Eggermann K (2012) Search for
cryptic subtelomeric aberrations in patients with non-classical
Marinesco-Sjögren phenotype. Journal of Pediatric Neurology 10:167-172.
- Sarig
O, Bercovici S, Zoller L, Goldberg I, Indelman M, Nahum S, Israeli S,
Sagiv N, Martinez de Morentin H, Katz O, Baum S, Barzilai A, Trau H,
Murrell DF, Bergman R, Hertl M, Rosenberg S, Nöthen MM, Skorecki K,
Schmidt E, Zillikens D, Darvasi A, Geiger D, Rosset S, Ibrahim SM,
Sprecher E (2012) Population-specific association between a polymorphic
variant in ST18, encoding a pro-apoptotic molecule, and pemphigus
vulgaris. Journal of Investigative Dermatology 132:1798-1805.
- Schmiedeke
E, Zwink N, Schwarzer N, Bartels E, Schmidt D, Grasshoff-Derr S,
Holland-Cunz S, Hosie S, Jablonka K, Maerzheuser S, Reutter H, Lorenz C,
Jenetzky E (2012) Unexpected results of a nationwide,
treatment-independent assessment of fecal incontinence in patients with
anorectal anomalies. Pediatric Surgery International 28:825-830.
- Schmieder
A, Pasternack SM, Krahl D, Betz RC, Leverkus M (2012) Galli-Galli disease
is an acantholytic variant of Dowling-Degos disease: additional genetic
evidence in a German family. Journal of American Academy of Dermatology
66:e250-251.
- Schulz
AC, Bartels E, Stressig R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken
M, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Heydweiller
A, Bachour H, Schumacher J, Bartmann P, Nöthen MM, Reutter H (2012) Nine
new twin pairs with esophageal atresia, a review of the literature, and
performance of a twin study of the disorder. Birth Defects Research Part A
94:182-186.
- Schulz
AC, Stressig R, Ritgen J, Bagci S, Müller A, Gembruch U, Geipel A, Berg C,
Bartmann P, Reutter H (2012) A classic twin study of isolated
gastroschisis. Fetal Pediatric Pathology 31:324-330.
- Shi H,
Belbin O, Medway C, Brown K, Kalsheker N, Carrasquillo M, Proitsi P,
Powell J, Lovestone S, Goate A, Younkin S, Passmore P; Genetic and
Environmental Risk for Alzheimer's Disease Consortium [Nöthen MM], Morgan
K; Alzheimer's Research UK Consortium (2012) Genetic variants influencing
human aging from late-onset Alzheimer's disease (LOAD) genome-wide
association studies (GWAS). Neurobiology of Aging 33:1849.e5-1849.e18.
- Solomon
BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D,
Reutter H, Giampietro PF (2012) Clinical geneticists' views of
VACTERL/VATER association. American Journal of Medical Genetics A
158A:3087-3100.
- Spier
I, Horpaopan S, Vogt S, Uhlhaas S, Morak M, Stienen D, Draaken M, Ludwig
M, Holinski-Feder E, Nothen MM, Hoffmann P, Aretz S (2012) Deep intronic
APC mutations explain a substantial proportion of patients with familial
or early-onset adenomatous polyposis. Human Mutation 33:1045-1050.
- Stein
JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R,
Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM,
Chakravarty MM, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes
AJ, Homuth G, Hottenga JJ, Langan C, Lopez LM, Hansell NK, Hwang KS, Kim
S, Laje G, Lee PH, Liu X, Loth E, Lourdusamy A, Mattingsdal M, Mohnke S,
Maniega SM, Nho K, Nugent AC, O'Brien C, Papmeyer M, Pütz B, Ramasamy A,
Rasmussen J, Rijpkema M, Risacher SL, Roddey JC, Rose EJ, Ryten M, Shen L,
Sprooten E, Strengman E, Teumer A, Trabzuni D, Turner J, van Eijk K, van
Erp TG, van Tol MJ, Wittfeld K, Wolf C, Woudstra S, Aleman A, Alhusaini S,
Almasy L, Binder EB, Brohawn DG, Cantor RM, Carless MA, Corvin A, Czisch
M, Curran JE, Davies G, de Almeida MA, Delanty N, Depondt C, Duggirala R,
Dyer TD, Erk S, Fagerness J, Fox PT, Freimer NB, Gill M, Göring HH, Hagler
DJ, Hoehn D, Holsboer F, Hoogman M, Hosten N, Jahanshad N, Johnson MP,
Kasperaviciute D, Kent JW Jr, Kochunov P, Lancaster JL, Lawrie SM, Liewald
DC, Mandl R, Matarin M, Mattheisen M, Meisenzahl E, Melle I, Moses EK,
Mühleisen TW, Nauck M, Nöthen MM, Olvera RL, Pandolfo M, Pike GB, Puls R,
Reinvang I, Rentería ME, Rietschel M, Roffman JL, Royle NA, Rujescu D,
Savitz J, Schnack HG, Schnell K, Seiferth N, Smith C, Steen VM, Valdés
Hernández MC, Van den Heuvel M, van der Wee NJ, Van Haren NE, Veltman JA,
Völzke H, Walker R, Westlye LT, Whelan CD, Agartz I, Boomsma DI, Cavalleri
GL, Dale AM, Djurovic S, Drevets WC, Hagoort P, Hall J, Heinz A, Jack CR
Jr, Foroud TM, Le Hellard S, Macciardi F, Montgomery GW, Poline JB,
Porteous DJ, Sisodiya SM, Starr JM, Sussmann J, Toga AW, Veltman DJ,
Walter H, Weiner MW; Alzheimer's Disease Neuroimaging Initiative; EPIGEN
Consortium; IMAGEN Consortium; Saguenay Youth Study Group, Bis JC, Ikram
MA, Smith AV, Gudnason V, Tzourio C, Vernooij MW, Launer LJ, DeCarli C,
Seshadri S; Cohorts for Heart and Aging Research in Genomic Epidemiology
Consortium, Andreassen OA, Apostolova LG, Bastin ME, Blangero J, Brunner
HG, Buckner RL, Cichon S, Coppola G, de Zubicaray G bI, Deary IJ, Donohoe
G, de Geus EJ, Espeseth T, Fernández G, Glahn DC, Grabe HJ, Hardy J,
Hulshoff Pol HE, Jenkinson M, Kahn RS, McDonald C, McIntosh AM, McMahon
FJ, McMahon KL, Meyer-Lindenberg A, Morris DW, Müller-Myhsok B, Nichols
TE, Ophoff RA, Paus T, Pausova Z, Penninx BW, Potkin SG, Sämann PG, Saykin
AJ, Schumann G, Smoller JW, Wardlaw JM, Weale ME, Martin NG, Franke B,
Wright MJ, Thompson PM; Enhancing Neuro Imaging Genetics through
Meta-Analysis Consortium (2012) Identification of common variants
associated with human hippocampal and intracranial volumes. Nature
Genetics 44:552-561.
- Sullivan
P, Psychiatric Genetics Investigators [Cichon S, Nöthen MM] (2012) Don't
give up on GWAS. Molecular Psychiatry 17:2-3.
- Terhal
PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis
C, Kerr B, Kinning E, Mansour S, Hennekam RC, van der Hout AH,
Cormier-Daire V, Lund AM, Goodwin L, Mégarbané A, Lees M, Betz RC, Tobias
ES, Coucke P, Mortier GR (2012) Mutation-based growth charts for SEDC and
other COL2A1 related dysplasias. American Journal of Medical Genetics C
Seminar Medical Genetics 160C:205-216.
- Thier
M, Wörsdörfer P, Lakes YB, Gorris R, Herms S, Opitz T, Seiferling D,
Quandel T, Hoffmann P, Nöthen MM, Brüstle O, Edenhofer F (2012) Direct
conversion of fibroblasts into stably expandable neural stem cells. Cell
Stem Cell 10:473-479.
- Tsoi
LC, Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y,
Tejasvi T, Gudjonsson JE, Kang HM, Allen MH, McManus R, Novelli G,
Samuelsson L, Schalkwijk J, Ståhle M, Burden AD, Smith CH, Cork MJ,
Estivill X, Bowcock AM, Krueger GG, Weger W, Worthington J, Tazi-Ahnini R,
Nestle FO, Hayday A, Hoffmann P, Winkelmann J, Wijmenga C, Langford C,
Edkins S, Andrews R, Blackburn H, Strange A, Band G, Pearson RD, Vukcevic
D, Spencer CC, Deloukas P, Mrowietz U, Schreiber S, Weidinger S, Koks S,
Kingo K, Esko T, Metspalu A, Lim HW, Voorhees JJ, Weichenthal M, Wichmann
HE, Chandran V, Rosen CF, Rahman P, Gladman DD, Griffiths CE, Reis A, Kere
J; Collaborative Association Study of Psoriasis (CASP); Genetic Analysis
of Psoriasis Consortium; Psoriasis Association Genetics Extension;
Wellcome Trust Case Control Consortium 2, Nair RP, Franke A, Barker JN,
Abecasis GR, Elder JT, Trembath RC (2012) Identification of 15 new
psoriasis susceptibility loci highlights the role of innate immunity.
Nature Genetics 44:1341-1348.
- van Bon
BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H,
Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M,
Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner
HG, de Vries BB, Hoischen A (2012) Cantú syndrome is caused by mutations
in ABCC9. American Journal of Human Genetics 90:1094-1101.
- Vassos
E, Steinberg S, Cichon S, Breen G, Sigurdsson E, Andreassen OA, Djurovic
S, Morken G, Grigoroiu-Serbanescu M, Diaconu CC, Czerski PM, Hauser J,
Babadjanova G, Abramova LI, Mühleisen TW, Nöthen MM, Rietschel M, McGuffin
P, Clair DS, Gustafsson O, Melle I, Pietiläinen OP, Ruggeri M, Tosato S,
Werge T, Ophoff RA; GROUP Consortium, Rujescu D, Borglum AD, Mors O,
Mortensen PB, Demontis D, Hollegaard MV, van Winkel R, Kenis G, De Hert M,
Réthelyi JM, Bitter I, Rubino IA, Golimbet V, Kiemeney LA, van den Berg
LH, Franke B, Jönsson EG, Farmer A, Stefansson H, Stefansson K, Collier DA
(2012) Replication study and meta-analysis in European samples supports
association of the 3p21.1 locus with bipolar disorder. Biological
Psychiatry 72:645-650.
- Wilcke
A, Ligges C, Burkhardt J, Alexander M, Wolf C, Quente E, Ahnert P,
Hoffmann P, Becker A, Müller-Myhsok B, Cichon S, Boltze J, Kirsten H
(2012) Imaging genetics of FOXP2 in dyslexia. European Journal of Human
Genetics 20:224-229.
- Willour
VL, Seifuddin F, Mahon PB, Jancic D, Pirooznia M, Steele J, Schweizer B,
Goes FS, Mondimore FM, Mackinnon DF; The Bipolar Genome Study (BiGS)
Consortium, Perlis RH, Lee PH, Huang J, Kelsoe JR, Shilling PD, Rietschel
M, Nöthen M, Cichon S, Gurling H, Purcell S, Smoller JW, Craddock N,
Depaulo JR Jr, Schulze TG, McMahon FJ, Zandi PP, Potash JB (2012) A
genome-wide association study of attempted suicide. Molecular Psychiatry
17:433-444.
- Wittler
L, Hilger A, Proske J, Pennimpede T, Draaken M, Ebert AK, Rösch W, Stein
R, Nöthen MM, Reutter H, Ludwig M (2012) Murine expression and mutation
analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1)
gene, a candidate for human epispadias. Gene 506:392-395.
- Zwink N, Jenetzky E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Weih S, Hosie S, Reifferscheid P, Ameis H, Kujath C, Rißmann A, Obermayr F, Schwarzer N, Bartels E, Reutter H, Brenner H; CURE-Net Consortium (2012) Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study. Orphanet Journal of Rare Diseases 7:65.
Übersichtsarbeiten / Bücher / Kommentare
- Gockel
I, Müller M, Schumacher J (2012) Achalasia – a disease of unknown cause
that is often diagnosed too late [Achalasie – eine oft zu spät
diagnostizierte und ätiologisch ungeklärte Krankheit]. Deutsches
Ärzteblatt International 109:209-214.
- Hackmann
K, Engels H, Schröck E (2012) Molekulare Karyotypisierung in der
genetischen Diagnostik: Technologien und Anwendungen. Medizinische Genetik
24:86-93.
- Haenisch
B, Nöthen MM, Molderings GJ (2012) Systemic mast cell activation disease:
the role of molecular genetic alterations in pathogenesis, heritability
and diagnostics. Immunology 137:197-205.
- Roos A, Brauers E, Buchkremer S, Spengler S,
Schüler HM, Schwanitz G (2012) Subtelomeric endings-chromosomal regions
with a high diagnostic impact in mental retardation syndromes: Insights
from the past two decades. Taking a closer look at chromosome tips. In:
Mancini DF, Greco CM (eds.) Intellectual disability. management, causes
and social perceptions. Nova Science Publishers:1-30.
- Schumacher
J, Propping P (2012) Seelische Erkrankungen zwischen Anlage und Umwelt:
Neue humangenetische Befunde zu einem alten Problem. In: Freytag H, Krahl
G, Krahl C, Thomann K-D (Hrsg): Psychotraumatologische Begutachtung.
Referenz-Verlag Frankfurt, 49-68.
- Spier I, Aretz S (2012) Polyposissyndrome des Gastrointestinaltrakts [Gastrointestinal polyposis syndromes]. Internist 53:371-383