Publikationen 2019
Wissenschaftliche Originalarbeiten 2019
- Al-Zahrani HS, Al-Tala S, Mohamoud
HSA, Al-Shehri BA, Al-Fadhel S, Al-Qurashi A, Al-Bishri A, Al-Aama JY, Kang C, Betz RC, Jelani M (2019) Novel compound
heterozygous and homozygous variants of laminin subunit β3 gene underlie
non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from
Saudi Arabia. Congenital Anomalies (Kyoto) 59:99-101. PMID: 29900604
- An J, Gharahkhani P, Law MH, Ong JS,
Han X, Olsen CM, Neale RE, Lai J, Vaughan TL, Gockel I, Thieme R, Böhmer AC, Jankowski J, Fitzgerald RC, Schumacher J, Palles C; BEACON; 23andMe
Research Team, Whiteman DC, MacGregor S (2019) Gastroesophageal reflux GWAS
identifies risk loci that also associate with subsequent severe esophageal
diseases. Nature Communications 10(1):4219. doi: 10.1038/s41467-019-11968-2.
Erratum in: Nat Commun. 2019 Dec 4;10(1):5617. PMID: 31527586
- Anderson-Schmidt H, Gade K, Malzahn
D, Papiol S, Budde M, Heilbronner U, Reich-Erkelenz D, Adorjan K, Kalman JL,
Senner F, Comes AL, Flatau L, Gryaznova A, Hake M, Reitt M, Schmauß M, Juckel
G, Reimer J, Zimmermann J, Figge C, Reininghaus E, Anghelescu IG, Konrad C,
Thiel A, von Hagen M, Koller M, Stierl S, Scherk H, Spitzer C, Folkerts H,
Becker T, Dietrich DE, Andlauer TFM, Degenhardt
F, Nöthen MM, Witt SH, Rietschel
M, Wiltfang J, Falkai P, Schulze TG(2019) The influence of religious activity
and polygenic schizophrenia risk on religious delusions in schizophrenia.
Schizophrenia Research 210:255-261. PMID:
30611655
- Arnau-Soler A, Macdonald-Dunlop E,
Adams MJ, Clarke TK, MacIntyre DJ, Milburn K, Navrady L; Generation Scotland; Major Depressive Disorder Working Group of
the Psychiatric Genomics Consortium [Degenhardt F, Forstner AJ, Herms S, Hoffmann
P, Nöthen MM], Hayward C, McIntosh AM, Thomson PA (2019) Genome-wide by
environment interaction studies of depressive symptoms and psychosocial stress
in UK Biobank and Generation Scotland. Translational Psychiatry 2019 Feb
4;9(1):14. doi: 10.1038/s41398-018-0360-y. PMID: 30718454
- Atkins I, Kinnersley B, Ostrom QT,
Labreche K, Il'yasova D, Armstrong GN, Eckel-Passow JE, Schoemaker MJ, Nöthen MM, Barnholtz-Sloan JS, Swerdlow
AJ, Simon M, Rajaraman P, Chanock SJ, Shildkraut J, Bernstein JL, Hoffmann P,
Jöckel KH, Lai RK, Claus EB, Olson SH, Johansen C, Wrensch MR, Melin B, Jenkins
RB, Sanson M, Bondy ML, Houlston RS (2019) Transcriptome-wide association study
identifies new candidate susceptibility genes for glioma. Cancer Research
79:2065-2071. PMID: 30709929
- Bamborschke D, Pergande M, Daimagüler
HS, Mangold E, Dötsch J, Herkenrath
P, Cirak S, Fazeli W (2019) Cleft palate as distinguishing feature in a patient
with GABRB3 epileptic encephalopathy. Neuropediatrics 50:378-381. PMID: 31319422
- Barbu MC, Zeng Y, Shen X, Cox SR,
Clarke TK, Gibson J, Adams MJ, Johnstone M, Haley CS, Lawrie SM, Deary IJ; Major Depressive Disorder Working Group of
the Psychiatric Genomics Consortium [Degenhardt F, Forstner AJ,Herms S, Hoffmann P, Nöthen MM]; 23andMe Research
Team, McIntosh AM, Whalley HC (2019) Association of whole-genome and NETRIN1
signaling pathway-derived polygenic risk scores for major depressive disorder
nd white matter microstructure in the UK biobank. Biological Psychiatry: Cognitive
Neuroscience and Neuroimaging 4:91-100. PMID: 30197049
-
Betz
RC (2019) Novel mutation for disseminated superficial actinic porokeratosis
and its functional impact at the protein level. British Journal of Dermatology
181:241. doi: 10.1111/bjd.18139. Epub 2019 Jul 24. No abstract available. Editorial
Material. PMID: 31340066
- Birtel J, Gliem M, Oishi A, Müller
PL, Herrmann P, Holz FG, Mangold E,
Knapp M, Bolz HJ, Charbel Issa P (2019) Genetic testing in patients with
retinitis pigmentosa: Features of unsolved cases. Clinical & Experimental
Ophthalmology 47:779-786. PMID: 30977268
- Budde M, Anderson-Schmidt H, Gade K,
Reich-Erkelenz D, …, Degenhardt F, Forstner AJ, Rietschel M, Nöthen MM, Falkai P, Schulze TG,
Heilbronner U (2019) A longitudinal approach to biological psychiatric
research: The PsyCourse study. American Journal of Medical Genetics B
Neuropsychiatric Genetics 180:89-102. PMID:
30070057
- Budde M, Friedrichs S,
Alliey-Rodriguez N, Ament S, Badner JA, Berrettini WH, Bloss CS, Byerley W,
Cichon S, Comes AL, Coryell W, Craig DW, Degenhardt
F, Edenberg HJ, Foroud T, Forstner
AJ, Frank J, Gershon ES, Goes FS, Greenwood TA, Guo Y, Hipolito M, Hood L,
Keating BJ, Koller DL, Lawson WB, Liu C, Mahon PB, McInnis MG, McMahon FJ,
Meier SM, Mühleisen TW, Murray SS, Nievergelt CM, Nurnberger JI Jr, Nwulia EA,
Potash JB, Quarless D, Rice J, Roach JC, Scheftner WA, Schork NJ, Shekhtman T,
Shilling PD, Smith EN, Streit F, Strohmaier J, Szelinger S, Treutlein J, Witt
SH, Zandi PP, Zhang P, Zöllner S, Bickeböller H, Falkai PG, Kelsoe JR, Nöthen MM, Rietschel M, Schulze TG,
Malzahn D (2019) Efficient region-based test strategy uncovers genetic risk
factors for functional outcome in bipolar disorder. European
Neuropsychopharmacology 29:156-170. PMID: 30503783
- Budde MK, Kuhn W, Keyver-Paik MD,
Bootz F, Kalff JC, Müller SC, Bieber T, Brossart P, Vatter H, Herrlinger U,
Wirtz DC, Schild HH, Kristiansen G, Pietsch T, Aretz S, Geiser F, Radbruch L, Reich RH, Strassburg CP, Skowasch D,
Essler M, Ernstmann N, Landsberg J, Funke B, Schmidt-Wolf IGH (2019) A
matched-pair analysis on survival and response rates between German and
non-German cancer patients treated at a Comprehensive Cancer Center. BMC
Cancer. 2019 Oct 30;19(1):1024. doi: 10.1186/s12885-019-6241-9. PMID: 31666035
-
Buerfent
BC, Gölz L, Hofmann A, Rühl H,
Stamminger W, Fricker N, Hess T,
Oldenburg J, Nöthen MM, Schumacher J, Hübner MP, Hoerauf A
(2019) Transcriptome-wide analysis of filarial extract-primed human monocytes
reveal changes in LPS-induced PTX3 expression levels. Scientific Reports. 2019 Feb
22;9(1):2562. doi: 10.1038/s41598-019-38985-x. PMID: 30796272
- Castven D, Becker D, Czauderna C,
Wilhelm D, Andersen JB, Strand S, Hartmann M, Heilmann-Heimbach S, Roth W, Hartmann N, Straub BK, Mahn FL, Franck
S, Pereira S, Haupts A, Vogel A, Wörns MA, Weinmann A, Heinrich S, Lang H, Thorgeirsson
SS, Galle PR, Marquardt JU (2019) Application of patient-derived liver cancer
cells for phenotypic characterization and therapeutic target identification.
International Journal of Cancer 144:2782-2794. PMID: 30485423
- Charbel Issa P, Gliem M, Yusuf IH,
Birtel J, Müller PL, Mangold E,
Downes SM, MacLaren RE, Betz C, Bolz
HJ (2019) A specific macula-predominant retinal phenotype is associated with
the CDHR1 variant c.783G>A, a silent mutation leading to in-frame exon
skipping. Investigative Ophthalmology & Visual Science 2019 Aug
1;60(10):3388-3397. doi: 10.1167/iovs.18-26415. PMID: 31387115
- Chattopadhyay S, Thomsen H, Yadav P,
da Silva Filho MI, Weinhold N, Nöthen MM,
Hoffman P, Bertsch U, Huhn S, Morgan
GJ, Goldschmidt H, Houlston R, Hemminki K, Försti A (2019) Genome-wide
interaction and pathway-based identification of key regulators in multiple
myeloma. Communications Biology 2019 Mar 4;2:89. doi:
10.1038/s42003-019-0329-2. eCollection 2019. PMID: 30854481
- Choi KW, Chen CY, Stein MB,
Klimentidis YC, Wang MJ, Koenen KC, Smoller JW; Major Depressive Disorder Working Group of the Psychiatric Genomics
Consortium [Degenhardt F, Forstner AJ, Herms S, Hoffmann P, Nöthen MM]
(2019) Assessment of bidirectional relationships between physical activity and depression
among adults: A 2-sample mendelian randomization study (2019) JAMA Psychiatry
76:399-408. PMID: 30673066
- Comes AL, Senner F, Budde M, Adorjan
K, Anderson-Schmidt H, Andlauer TFM, Gade K, Hake M, Heilbronner U, Kalman JL,
Reich-Erkelenz D, Klöhn-Saghatolislam F, Schaupp SK, Schulte EC, Juckel G,
Dannlowski U, Schmauß M, Zimmermann J, Reimer J, Reininghaus E, Anghelescu IG,
Arolt V, Baune BT, Konrad C, Thiel A, Fallgatter AJ, Nieratschker V, Figge C,
von Hagen M, Koller M, Becker T, Wigand ME, Jäger M, Dietrich DE, Stierl S,
Scherk H, Spitzer C, Folkerts H, Witt SH, Degenhardt
F, Forstner AJ, Rietschel M, Nöthen MM, Wiltfang J, Falkai P,
Schulze TG, Papiol S (2019) The genetic relationship between educational
attainment and cognitive performance in major psychiatric disorders. Translational
Psychiatry 9:210. PMID: 31462630
-
Cross-Disorder
Group of the Psychiatric Genomics Consortium [MN] (2019) Genomic
relationships, novel loci, and pleiotropic mechanisms across eight psychiatric
disorders. Cell 179(7):1469-1482. PMID: 31835028
- Czamara D, Eraslan G, Page CM, Lahti
J, Lahti-Pulkkinen M, Hämäläinen E, Kajantie E, Laivuori H, Villa PM, Reynolds
RM, Nystad W, Håberg SE, London SJ, O'Donnell KJ, Garg E, Meaney MJ, Entringer
S, Wadhwa PD, Buss C, Jones MJ, Lin DTS, MacIsaac JL, Kobor MS, Koen N, Zar HJ,
Koenen KC, Dalvie S, Stein DJ, Kondofersky I, Müller NS, Theis FJ; Major Depressive Disorder Working Group of
the Psychiatric Genomics Consortium [Degenhard F, Forstner, AJ, Herms S,
Hoffmann P, Nöthen MM], Räikkönen K, Binder EB (2019) Integrated analysis
of environmental and genetic influences on cord blood DNA methylation in
new-borns. Nature Communications Jun 11;10(1):2548. doi:
10.1038/s41467-019-10461-0. PMID: 31186427
- Dalmasso MC, Brusco LI, Olivar N,
Muchnik C, Hanses C, Milz E, Becker J, Heilmann-Heimbach
S, Hoffmann P, Prestia FA,
Galeano P, Avalos MSS, Martinez LE, Carulla ME, Azurmendi PJ, Liberczuk C,
Fezza C, Sampaño M, Fierens M, Jemar G, Solis P, Medel N, Lisso J, Sevillano Z,
Bosco P, Bossù P, Spalletta G, Galimberti D, Mancuso M, Nacmias B, Sorbi S,
Mecocci P, Pilotto A, Caffarra P, Panza F, Bullido M, Clarimon J, Sánchez-Juan
P, Coto E, Sanchez-Garcia F, Graff C, Ingelsson M, Bellenguez C, Castaño EM,
Kairiyama C, Politis DG, Kochen S, Scaro H, Maier W, Jessen F, Mangone CA,
Lambert JC, Morelli L, Ramirez A (2019) Transethnic meta-analysis of rare
coding variants in PLCG2, ABI3, and TREM2 supports their general contribution
to Alzheimer's disease. Translstional Psychiatry 2019 Jan 31;9(1):55. doi:
10.1038/s41398-019-0394-9. PMID: 30705288
- Döhla M, Leichauer K, Gockel I,
Niebisch S, Thieme R, Lundell L, Schumacher
J, Becker J, Rieker RJ, Hartmann
A, Vieth M, Veits L (2019) Characterization of esophageal inflammation in
patients with achalasia. A retrospective immunohistochemical study. Human
Pathology 85:228-234. PMID: 30502378
- Dong J, Gharahkhani P, Chow WH,
Gammon MD, Liu G, Caldas C, Wu AH, Ye W, Onstad L, Anderson LA, Bernstein L,
Pharoah PD, Risch HA, Corley DA, Fitzgerald RC; Stomach and Esophageal Cancer
Study Consortium, Iyer PG, Reid BJ, Lagergren J, Shaheen NJ, Vaughan TL,
MacGregor S, Love S, Palles C, Tomlinson I, Gockel I, May A, Gerges C, Anders
M, Böhmer AC, Becker J, Kreuser N,
Thieme R, Noder T, Venerito M, Veits L, Schmidt T, Schmidt C, Izbicki JR,
Hölscher AH, Lang H, Lorenz D, Schumacher B, Mayershofer R, Vashist Y, Ott K,
Vieth M, Weismüller J, Nöthen MM,
Moebus S, Knapp M, Peters WHM, Neuhaus H, Rösch T, Ell C, Jankowski J, Schumacher J, Neale RE, Whiteman DC,
Thrift AP (2019) No association between Vitamin D status and risk of Barrett's
esophagus or esophageal adenocarcinoma: A mendelian randomization study.
Clinical Gastroenterology and Hepatology 17:2227-2235. PMID: 30716477
- Drange OK, Smeland OB, Shadrin AA,
Finseth PI, Witoelar A, Frei O; Psychiatric
Genomics Consortium Bipolar Disorder Working Group [Degenhardt F, Forstner AJ,
Hoffmann P, Nöthen MM], Wang Y, Hassani S, Djurovic S, Dale AM, Andreassen
OA (2019) Genetic overlap between Alzheimer's disease and bipolar disorder
implicates the MARK2 and VAC14 genes. Frontiers in Neuroscience 13:220. doi:
10.3389/fnins.2019.00220. PMID: 30930738
-
Dworschak
GC, Reutter H, Hilger AC (2019) Expanding the knowledge on development of
CAKUT: molecular genetics and beyond. Annals of Translational Medicine 7:596.
doi: 10.21037/atm.2019.09.157. No abstract available. PMID: 31807577
- Ebert AK, Zwink N, Jenetzky E, Stein R,
Boemers TM, Lacher M, Fortmann C, Obermayr F, Fisch M, Mortazawi K, Schmiedeke
E, Eisenschmidt V, Schäfer M, Hirsch K, Rösch WH, Reutter H (2019)
Association between exstrophy-epispadias complex and congenital anomalies: A
German multicenter study. Urology 123:210-220.
PMID: 30076940
- Fard MAF, Rebelo AP, Buglo E, Nemati
H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde
A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer
DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei
Z, Yousefi M, Farpour HR, Kessler C, Mangold
E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M,
Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S,
Faghihi MA (2019) Truncating mutations in UBAP1 cause hereditary spastic paraplegia.
American Journal of Human Genetics 104:767-773. Erratum in: Am J Hum Genet.
2019 Jun 6;104(6):1251. PMID: 30929741
- Foo JC, Streit F, Frank J, Witt SH,
Treutlein J; Major Depressive Disorder
Working Group of the Psychiatric Genomics Consortium [Degenhard F, Forstner,
AJ, Herms S, Hoffmann P, Nöthen MM], Baune BT, Moebus S, Jöckel KH, Forstner AJ, Nöthen MM, Rietschel M,
Sartorius A, Kranaster L (2019) Evidence for increased genetic risk load for
major depression in patients assigned to electroconvulsive therapy. American
Journal of Medical Genetics B Neuropsychiatric Genetics 180:35-45. PMID:
30507021
- Frank M, Dragano N, Arendt M, Forstner AJ, Nöthen MM, Moebus S, Erbel R, Jöckel KH, Schmidt B (2019) A genetic
sum score of risk alleles associated with body mass index interacts with
socioeconomic position in the Heinz Nixdorf Recall Study. PLoS One 14:e0221252.
PMID: 31442235
- Gallon R, Mühlegger B, Wenzel SS,
Sheth H, Hayes C, Aretz S, Dahan K,
Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy
U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M,
Pander HJ, Perez-Alonso V, Perne C,
Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY,
Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K
(2019) A sensitive and scalable microsatellite instability assay to diagnose
constitutional mismatch repair deficiency by sequencing of peripheral blood
leukocytes. Human Mutation 40:649-655. PMID: 30740824
- Gialluisi A, Andlauer TFM,
Mirza-Schreiber N, Moll K, Becker J,
Hoffmann P, Ludwig KU, Czamara D, St Pourcain B, Brandler W, Honbolygó F, Tóth
D, Csépe V, Huguet G, Morris AP, Hulslander J, Willcutt EG, DeFries JC, Olson
RK, Smith SD, Pennington BF, Vaessen A, Maurer U, Lyytinen H, Peyrard-Janvid M,
Leppänen PHT, Brandeis D, Bonte M, Stein JF, Talcott JB, Fauchereau F, Wilcke
A, Francks C, Bourgeron T, Monaco AP, Ramus F, Landerl K, Kere J, Scerri TS,
Paracchini S, Fisher SE, Schumacher J,
Nöthen MM, Müller-Myhsok B,
Schulte-Körne G (2019) Genome-wide association scan identifies new variants
associated with a cognitive predictor of dyslexia. Translational Psychiatry
9(1):77. doi: 10.1038/s41398-019-0402-0. PMID: 30741946
- Gliem C, Minnerop M, Roeske S,
Gärtner H, Schoene-Bake JC, Adler S, Witt JA, Hoffstaedter F, Schneider-Gold C,
Betz RC, Helmstaedter C, Tittgemeyer
M, Amunts K, Klockgether T, Weber B, Kornblum C (2019) Tracking the brain in
myotonic dystrophies: A 5-year longitudinal follow-up study. PLoS One. 2019 Mar
7;14(3):e0213381. doi: 10.1371/journal.pone.0213381. eCollection 2019. PMID:
30845252
- Goltermann J, Redlich R, Dohm K,
Zaremba D, Repple J, Kaehler C, Grotegerd D, Förster K, Meinert S, Enneking V,
Schlaghecken E, Fleischer L, Hahn T, Kugel H, Jansen A, Krug A, Brosch K,
Nenadic I, Schmitt S, Stein F, Meller T, Yüksel D, Fischer E, Rietschel M, Witt
SH, Forstner AJ, Nöthen MM, Kircher T, Thalamuthu A,
Baune BT, Dannlowski U, Opel N (2019) Apolipoprotein E homozygous ε4 allele
status: A deteriorating effect on visuospatial working memory and global brain
structure. Frontiers in Neurology May 27;10:552. doi: 10.3389/fneur.2019.00552.
PMID: 31191441
- Grolleman JE, de Voer RM, Elsayed FA,
Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de
Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang
A, Spier I, Hüneburg R, James PA, Li
N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet
K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van
Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska
D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD,
Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP (2019)
Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype
(2019) Cancer Cell 35:256-266.e5. doi: 10.1016/j.ccell.2018.12.011. PMID:
30753826
- Grove J, Ripke S, Als TD, Mattheisen
M, … , Xu X; Autism Spectrum Disorder Working Group of the Psychiatric Genomics
Consortium; BUPGEN; Major Depressive
Disorder Working Group of the Psychiatric Genomics Consortium [Degenhard F,
Forstner, AJ, Herms S, Hoffmann P, Nöthen MM]; 23andMe Research Team,
Stefansson K, Geschwind DH, Nordentoft M, Hougaard DM, Werge T, Mors O,
Mortensen PB, Neale BM, Daly MJ, Børglum AD (2019) Identification of common
genetic risk variants for autism spectrum disorder. Nature Genetics 51:431-444.
PMID: 30804558
- Haertle L, Müller T, Lardenoije R,
Maierhofer A, Dittrich M, Riemens RJM, Stora S, Roche M, Leber M, Riedel-Heller
S, Wagner M, Scherer M, Ravel A, Mircher C, Cieuta-Walti C, Durand S, van de
Hove DLA, Hoffmann P, Ramirez A,
Haaf T, El Hajj N, Mégarbané A (2019) Methylomic profiling in trisomy 21
identifies cognition- and Alzheimer's disease-related dysregulation. Clinical
Epigenetics 2019 Dec 16;11(1):195. doi: 10.1186/s13148-019-0787-x. PMID:
31843015
- Hauke J, Hahnen E, Schneider S, Reuss
A, Richters L, Kommoss S, Heimbach A,
Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N,
Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D,
Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C,
Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A,
Schmutzler RK, Harter P (2019) Deleterious somatic variants in 473 consecutive
individuals with ovarian cancer: results of the observational AGO-TR1 study
(NCT02222883). Journal of Medical Genetics 56:574-580. PMID: 30979843
-
Henn
J*, Spier I*, Adam RS, Holzapfel S, Uhlhaas S, Kayser K, Plotz G, Peters S,
Aretz S (2019) Diagnostic yield and
clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Hereditary Cancer in Clinical Practice Jan 23;17:5. doi:
10.1186/s13053-018-0102-4. eCollection 2019. PMID: 30680046. *These authors contributed equally to this
work.
- Hermasch MA, Schön MP, Betz RC, Frank J (2019) Zwei Frauen mit
Haarverlust [Two females with hair loss] (2019) Journal oft the German Society
of Dermatology [Deutsche Dermatologische Gesellschaft] 2019 Aug;17(8):845-847.
doi: 10.1111/ddg.13886_g. PMID: 31437369
-
Hochfeld
LM, Keller A, Anhalt T, Fricker N; Meta-analysis for
Androgenetic Alopecia Novel determinants (MAAN) Consortium, Nöthen MM, Heilmann-Heimbach S (2019) Insights into male androgenetic alopecia:
differential gene expression profiling of plucked hair follicles and
integration with genetic data. Journal of Investigative Dermatology 39:235-238.
PMID: 30009830
- Howe LJ, Richardson TG, Arathimos R,
Alvizi L, Passos-Bueno MR, Stanier P, Nohr E, Ludwig KU, Mangold E,
Knapp M, Stergiakouli E, Pourcain BS, Smith GD, Sandy J, Relton CL, Lewis SJ,
Hemani G, Sharp GC (2019) Evidence for DNA methylation mediating genetic
liability to non-syndromic cleft lip/palate. Epigenomics 11:133-145. PMID:
30638414
- Hsieh TC, Mensah MA, Pantel JT,
Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O,
Braaten O, Ciaccio C, Coutelier M, Cremer
K, Danyel M, … , Mangold E,
Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L,
Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S,
Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E,
Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A,
Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M,
Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM (2019) PEDIA: prioritization
of exome data by image analysis. Genetic Medicine 21:2807-2814. PMID: 31164752
- Huckins LM, Dobbyn A, Ruderfer DM,
Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K,
Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S; CommonMind
Consortium; The Schizophrenia Working
Group of the Psychiatric Genomics Consortium [Degenhard F, Herms S, Hofmann A, Hoffmann
P, Nöthen MM]; iPSYCH-GEMS Schizophrenia Working Group, Demontis D, Børglum
AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox
NJ, Im HK, Sklar P, Stahl EA (2019) Gene expression imputation across multiple
brain regions provides insights into schizophrenia risk. Nature Genetics
51:659-674. Erratum in: Nature Genetics 2019 Jun;51(6):1068. PMID: 30911161
Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nature Genetics Jun;51(6):1068. doi: 10.1038/s41588-019-0435-6. PMID: 31086353
- Ijaz A, Wolf S, Mandukhail SR, Basit S, Betz RC*, Wali A* (2019) UV-sensitive syndrome: Whole exome
sequencing identified a nonsense mutation in the gene UVSSA in two
consanguineous pedigrees from Pakistan. Journal of Dermatological Science
95:113-118. PMID: 31421932. *These
authors contributed equally.
- Jamil MA, Sharma A, Nuesgen N,
Pezeshkpoor B, Heimbach A, Pavlova
A, Oldenburg J, El-Maarri O (2019) F8 inversions at Xq28 causing hemophilia A
are associated with specific methylation changes: implication for molecular
epigenetic diagnosis. Frontiers in Genetics 2019 May 29;10:508. doi:
10.3389/fgene.2019.00508. eCollection 2019. PMID: 31191618
- Kalman JL, Papiol S, Forstner AJ, Heilbronner U, Degenhardt F, Strohmaier J, …, Frisen L, Frye MA, Fullerton JM, Gade K, Gard
S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Gryaznova A, Hake M, Hauser J, Herms S, Hoffmann P, Hou L, Jäger M, Jamain S, Jiménez E, …, Witt S, Wright
A, Zandi PP, Zimmermann J, Nöthen M,
Rietschel M, Schulze TG (2019) Investigating polygenic burden in age at disease
onset in bipolar disorder: Findings from an international multicentric study.
Bipolar Disorders 2019 Feb;21(1):68-75. doi: 10.1111/bdi.12659. Epub 2018 Jun
28. PMID 29956436
-
Kause
F, Zhang R, Ludwig M, Schmiedeke
E, Rissmann A, Thiele H, Altmueller J, Herms
S, Hilger AC, Hildebrandt F, Reutter H (2019) HSPA6: A new autosomal
recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth
Defects Research 111:591-597. PMID: 30887706
- Khandelwal KD, van den Boogaard MH, Mehrem SL, Gebel J, Fagerberg C, van
Beusekom E, van Binsbergen E, Topaloglu O, Steehouwer M, Gilissen C, Ishorst N, van Rooij IALM, Roeleveld N,
Christensen K, Schoenaers J, Bergé S, Murray JC, Hens G, Devriendt K, Ludwig KU, Mangold E, Hoischen A, Zhou H, Dötsch V, Carels CEL, van Bokhoven H
(2019) Deletions and loss-of-function variants in TP63 associated with
orofacial clefting. European Journal of Human Genetics 27:1101-1112. PMID: 30850703
- Klaschik K, Hauke J, Neidhardt G,
Tränkle C, Surowy HM, Heilmann-Heimbach
S, Rappl G, Mangold E, Arnold N,
Niederacher D, Sutter C, Burwinkel B, Engel C, Wappenschmidt B, Meindl A, Ernst
C, Weber-Lassalle K, Weber-Lassalle N, Schmidt S, Borde J, Schmutzler RK,
Hahnen E, Pohl-Rescigno E (2019) The GPRC5A frameshift variant c.183del is not
associated with increased breast cancer risk in BRCA1 mutation carriers.
International Journal of Cancer 144:1761-1763. PMID: 30474284
- Knuever J, Persa OD, Illerhaus A, Ralser DJ, Hartmann K, Betz RC, Tantcheva-Poór I (2019) Mast
cell activation in Dowling-Degos disease. British Journal of Dermatology
181:1312-1314. PMID: 31206596
- Kolvenbach CM*, Dworschak GC*, Frese S,
Japp AS, Schuster P, Wenzlitschke N, Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause
F, Schneider R, Taranta-Janusz K, Szczepańska M, Pawlaczyk K, Newman WG, Beaman
GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij IALM, Schreuder MF,
Steffens M, Weber S, Merz WM, Feldkötter M, Hoppe B, Thiele H, Altmüller J,
Berg C, Kristiansen G, Ludwig M, Reutter
H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B*, Hilger AC* (2019) Rare variants in BNC2
are implicated in autosomal-dominant congenital lower urinary-tract obstruction.
American Journal of Human Genetics 104:994-1006. PMID: 31051115. *These authors contributed equally to
this work
- Kunkle BW, Grenier-Boley B, Sims R,
Bis JC, …[Nöthen MM] …; Alzheimer
Disease Genetics Consortium (ADGC), European Alzheimer’s Disease Initiative
(EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium
(CHARGE), Genetic and environmental risk in AD/Defining Genetic, Polygenic and
Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES) (2019) Genetic
meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and
implicates Aβ, tau, immunity and lipid processing. Nature Genetics 51:414-430. PMID:
30820047
Erratum in: Nat Genet. 2019 Sep;51(9):1423-1424. PMID: 31417202
- Lardenoije R, Roubroeks JAY, Pishva
E, Leber M, Wagner H, Iatrou A, Smith AR, Smith RG, Eijssen LMT, Kleineidam L,
Kawalia A, Hoffmann P, Luck T,
Riedel-Heller S, Jessen F, Maier W, Wagner M, Hurlemann R, Kenis G, Ali M, Del
Sol A, Mastroeni D, Delvaux E, Coleman PD, Mill J, Rutten BPF, Lunnon K,
Ramirez A, van den Hove DLA (2019) Alzheimer's disease-associated
(hydroxy)methylomic changes in the brain and blood. Clinical Epigenetics 2019
Nov 27;11(1):164. doi: 10.1186/s13148-019-0755-5. PMID: 31775875
- Law PJ, Timofeeva M,
Fernandez-Rozadilla C, …, Casey G, Hoffmann P, Nöthen MM, Jöckel KH, Easton DF, Pharoah PDP, Peto J, Canzian F,
Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N; PRACTICAL consortium,
Harkin A, Allan K, McQueen J, Paul J, Iveson T, Saunders M, Butterbach K,
Chang-Claude J, Hoffmeister M, Brenner H, Kirac I, Matošević P, Hofer P,
Brezina S, Gsur A, Cheadle JP, Aaltonen LA, Tomlinson I, Houlston RS, Dunlop MG
(2019) Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
Nature Communications 10:2154. doi: 10.1038/s41467-019-09775-w. PMID: 31089142
- Leonenko G, Sims R, Shoai M, Frizzati
A, Bossù P, Spalletta G, Fox NC, Williams J; GERAD consortium [Nöthen MM], Hardy J, Escott-Price V (2019) Polygenic
risk and hazard scores for Alzheimer's disease prediction. Annals of Clinical
and Translational Neurology 6:456-465. PMID: 30911569
- Malhotra R, Mauer AC, Lino Cardenas
CL, Guo X, Yao J, Zhang X, Wunderer F, Smith AV, Wong Q, Pechlivanis S, Hwang
SJ, Wang J, Lu L, Nicholson CJ, Shelton G, Buswell MD, Barnes HJ, Sigurslid HH,
Slocum C, Rourke CO, Rhee DK, Bagchi A, Nigwekar SU, Buys ES, Campbell CY,
Harris T, Budoff M, Criqui MH, Rotter JI, Johnson AD, Song C, Franceschini N,
Debette S, Hoffmann U, Kälsch H, Nöthen
MM, Sigurdsson S, Freedman BI, Bowden DW, Jöckel KH, Moebus S, Erbel R,
Feitosa MF, Gudnason V, Thanassoulis G, Zapol WM, Lindsay ME, Bloch DB, Post
WS, O'Donnell CJ (2019) HDAC9 is implicated in atherosclerotic aortic
calcification and affects vascular smooth muscle cell phenotype. Nature
Genetics 51:1580-1587. PMID: 31659325
- Malki L, Sarig O, Romano MT, Méchin
MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad
J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A,
Dlova NC, Betz RC, Sprecher E (2019)
Variant PADI3 in central centrifugal cicatricial alopecia. New England Journal of
Medicine 380:833-841. PMID: 30763140
- Mallmann MR, Mack-Detlefsen B, Reutter H, Pohle R, Gottschalk I,
Geipel A, Berg C, Boemers TM, Gembruch U (2019) Isolated bladder exstrophy in
prenatal diagnosis. Archives of Gynecology and Obstetrics 300:355-363. PMID:
31115647
- Mallmann MR, Reutter H, Gottschalk I, Geipel A, Berg C, Gembruch U (2019) Prenatal
diagnosis of enterolithiasis in 20 cases. Fetal Diagnosis and Therapy
46:266-273. PMID: 30879001
- Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C,
Boemers TM, Gembruch U (2019) Prenatal diagnosis of hydro(metro)colpos: A
series of 20 cases. Fetal Diagnosis and Therapy 45:62-68. PMID: 29478043
- Mann N, Kause F, Henze EK, Gharpure
A, Shril S, Connaughton DM, Nakayama M, Klämbt V, Majmundar AJ, Wu CW,
Kolvenbach CM, Dai R, Chen J, van der Ven AT, Ityel H, Tooley MJ, Kari JA,
Bownass L, El Desoky S, De Franco E, Shalaby M, Tasic V, Bauer SB, Lee RS,
Beckel JM, Yu W, Mane SM, Lifton RP, Reutter
H, Ellard S, Hibbs RE, Kawate T, Hildebrandt F (2019) CAKUT and autonomic
dysfunction caused by acetylcholine receptor mutations. American Journal of
Human Genetics 105:1286-1293. PMID: 31708116
- Meller T, Schmitt S, Stein F, Brosch
K, Mosebach J, Yüksel D, Zaremba D, Grotegerd D, Dohm K, Meinert S, Förster K,
Redlich R, Opel N, Repple J, Hahn T, Jansen A, Andlauer TFM, Forstner AJ, Heilmann-Heimbach S, Streit F, Witt SH, Rietschel M, Müller-Myhsok
B, Nöthen MM, Dannlowski U, Krug A,
Kircher T, Nenadić I (2019) Associations of schizophrenia risk genes
ZNF804A and CACNA1C with schizotypy and modulation of attention in healthy
subjects. Schizophrenia Research 208:67-75. PMID: 31076262
- Melzer C, Sharma A, Peters S, Aretz S, Biswas A, Holz FG, Loeffler KU, Herwig-Carl MC (2019)
Basal cell carcinomas developing independently from BAP1-tumor predisposition
syndrome in a patient with bilateral uveal melanoma: Diagnostic challenges to
identify patients with BAP1-TPDS. Genes Chromosomes Cancer 58:357-364. PMID:
30578689
- Mullins N, Bigdeli TB, Børglum AD,
Coleman JRI, Demontis D, Mehta D, Power RA, Ripke S, Stahl EA, Starnawska A,
Anjorin A; M.R.C.Psych, Corvin A, Sanders AR, Forstner AJ, Reif A, Koller
AC, Świątkowska B, …, Bellivier F, Degenhardt
F, Breen G, Morken G, Turecki G, Rouleau GA, Grabe HJ, Völzke H, Jones I,
Giegling I, Agartz I, Melle I, Lawrence J, …, Leboyer M, Frye M, Nöthen MM, Alda M, ..., McGrath P, Hoffmann P, McGuffin P, Lee PH, Mortensen PB, Kahn RS, Ophoff RA,
Adolfsson R, Van der Auwera S, Djurovic S, Kloiber S, Heilmann-Heimbach S, Jamain S, Hamilton SP, …, Appadurai V, Cahn W,
Milaneschi Y; Major Depressive Disorder
Working Group of the Psychiatric Genomics Consortium [Degenhard F, Forstner,
AJ, Herms S, Hoffmann P, Nöthen MM]; Bipolar Disorder Working Group of the
Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric
Genomics Consortium, Fanous AH, Kendler KS, McQuillin A, Lewis CM (2019) GWAS
of suicide attempt in psychiatric disorders and association with major depression
polygenic risk scores. American Journal of Psychiatry 176:651-660. PMID:
31164008
- Munz M, Richter GM, Loos BG, Jepsen
S, Divaris K, Offenbacher S, Teumer A, Holtfreter B, Kocher T, Bruckmann C,
Jockel-Schneider Y, Graetz C, Ahmad I, Staufenbiel I, van der Velde N,
Uitterlinden AG, de Groot LCPGM, Wellmann J, Berger K, Krone B, Hoffmann P, Laudes M, Lieb W, Franke A,
Erdmann J, Dommisch H, Schaefer AS (2019) Meta-analysis of genome-wide
association studies of aggressive and chronic periodontitis identifies two
novel risk loci. European Journal of Human Genetics 27:102-113. PMID: 30218097
- Musliner KL, Mortensen PB, McGrath
JJ, Suppli NP, Hougaard DM, Bybjerg-Grauholm J, Bækvad-Hansen M, Andreassen O,
Pedersen CB, Pedersen MG, Mors O, Nordentoft M, Børglum AD, Werge T, Agerbo E; Bipolar Disorder Working Group of the
Psychiatric Genomics Consortium
[Nöthen MM] (2019) Association of polygenic liabilities for major
depression, bipolar disorder, and schizophrenia with risk for depression in the
Danish population. JAMA Psychiatry 76:516-525. PMID: 30698613
- Niazi Y, Thomsen H, Smolkova B,
Vodickova L, Vodenkova S, Kroupa M, Vymetalkova V, Kazimirova A, Barancokova M,
Volkovova K, Staruchova M, Hoffmann P,
Nöthen MM, Dušinská M, Musak L,
Vodicka P, Hemminki K, Försti A (2019) Genetic variation associated with
chromosomal aberration frequency: A genome-wide association study.
Environmental and Molecular Mutagenesis 60:17-28. PMID: 30368896
- Niazi Y, Thomsen H, Smolkova B,
Vodickova L, Vodenkova S, Kroupa M, Vymetalkova V, Kazimirova A, Barancokova M,
Volkovova K, Staruchova M, Hoffmann P,
Nöthen MM, Dusinska M, Musak L,
Vodicka P, Hemminki K, Försti A (2019) Distinct pathways associated with
chromosomal aberration frequency in a cohort exposed to genotoxic compounds
compared to general population. Mutagenesis 34:323-330. PMID: 31586183
- Park J, Koko M, Hedrich UBS, Hermann
A, Cremer K, Haberlandt E, Grimmel
M, Alhaddad B, Beck-Woedl S, Harrer M, Karall D, Kingelhoefer L, Tzschach A,
Matthies LC, Strom TM, Ringelstein EB, Sturm M, Engels H, Wolff M, Lerche H, Haack TB (2019) KCNC1-related
disorders: new de novo variants expand the phenotypic spectrum. Ann Clin Transl
Neurol 6:1319-1326. PMID: 31353862
- Pechlivanis S*, Heilmann-Heimbach S*, Erbel R, Mahabadi AA, Hochfeld LM, Jöckel KH, Nöthen
MM, Moebus S (2019) Male-pattern baldness and incident coronary heart
disease and risk factors in the Heinz Nixdorf Recall Study. PLoS One 14): e0225521.
doi: 10.1371/journal.pone.0225521. eCollection 2019. PMID: 31743359. *These authors contributed equally to
this work
- Polimanti R, Peterson RE, Ong JS,
MacGregor S, Edwards AC, Clarke TK, Frank J, Gerring Z, Gillespie NA, Lind PA,
Maes HH, Martin NG, Mbarek H, Medland SE, Streit F; Major Depressive Disorder Working Group of the Psychiatric Genomics
Consortium [Degenhardt F, Forstner
AJ, Hoffmann P, Nöthen MM], Agrawal A, Edenberg HJ, Kendler KS, Lewis CM,
Sullivan PF, Wray NR, Gelernter J, Derks EM (2019) Evidence of causal effect of
major depression on alcohol dependence: ÄFÄindings from the psychiatric
genomics consortium. Psychological Medicine 49:1218-1226. PMID: 30929657
-
Ralser
DJ, Takeuchi H, Fritz G, Basmanav FB,
Effern M, Sivalingam S,
El-Shabrawi-Caelen L, Degirmentepe EN, Kocatürk E, Singh M, Booken N, Spierings
NMK, Schnabel V, Heineke A, Knuever J, Wolf S, Wehner M, Tronnier M, Leverkus M, Tantcheva-Poór I, Wenzel J, Oji
V, Has C, Hölzel M, Frank J, Haltiwanger RS, Betz RC (2019) Altered notch signaling in Dowling-Degos sisease:
Additional mutations in POGLUT1 and further insights into disease pathogenesis.
Journal of Investigative Dermatology 139:960-964. PMID: 30414910
- Rongve A, Witoelar A, Ruiz A,
Athanasiu L, Abdelnour C, Clarimon J, Heilmann-Heimbach
S, Hernández I, Moreno-Grau S, de Rojas I, Morenas-Rodríguez E, Fladby T,
Sando SB, Bråthen G, Blanc F, Bousiges O, Lemstra AW, van Steenoven I, Londos
E, Almdahl IS, Pålhaugen L, Eriksen JA, Djurovic S, Stordal E, Saltvedt I,
Ulstein ID, Bettella F, Desikan RS, Idland AV, Toft M, Pihlstrøm L, Snaedal J,
Tárraga L, Boada M, Lleó A, Stefánsson H, Stefánsson K, Ramírez A, Aarsland D,
Andreassen OA (2019) GBA and APOE ε4 associate with sporadic dementia with Lewy
bodies in European genome wide association study. Science Reports 2019 May
7;9(1):7013. doi: 10.1038/s41598-019-43458-2. Erratum in: Sci Rep. 2019 Oct
17;9(1):15168. PMID: 31065058
- Satizabal CL, Adams HHH, Hibar DP, … ,
Nöthen MM, …, Shulman JM, Thompson
PM, Seshadri S, Ikram MA (2019) Genetic architecture of subcortical brain
structures in 38,851 individuals. Nature Genetics 51:1624-1636. PMID: 31636452
-
Schlaweck
AE, Tazi-Ahnini R, Basmanav FBÜ,
Mohungoo J, Pasternack-Ziach SM,
Mattheisen M, Oprisoreanu AM, Humbatova
A, Wolf S, Messenger A, Betz RC (2ß19 Autosomal-dominant
hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2
(2019) PLoS One. 2019 Dec 2;14(12): e0225943. doi:
10.1371/journal.pone.0225943. eCollection 2019. PMID: 31790498
-
Schröder
J, Schüller V, May A, Gerges C, Anders M, Becker J, Hess T,
Kreuser N, Thieme R, Ludwig KU,
Noder T, Venerito M, Veits L, Schmidt T, Fuchs C, Izbicki JR, Hölscher AH,
Dakkak D, Jansen-Winkeln B, Moulla Y, Lyros O, Niebisch S, Mehdorn M, Lang H,
Lorenz D, Schumacher B, Mayershofer R, Vashist Y, Ott K, Vieth M, Weismüller J,
Mangold E, Nöthen MM, Moebus S, Knapp M, Neuhaus H, Rösch T, Ell C, Gockel I,
Schumacher J, Böhmer AC (2019) Identification
of loci of functional relevance to Barrett's esophagus and esophageal
adenocarcinoma: Cross-referencing of expression quantitative trait loci data
from disease-relevant tissues with genetic association data. PLoS One Dec
31;14(12): e0227072. doi: 10.1371/journal.pone.0227072. eCollection 2019. PMID:
31891614
- Schulz H, Ruppert AK, Zara F, Madia
F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C,
Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS,
Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan
H, Ozbek U, Hoffmann P, Schramm S,
Tsortouktzidis D, Becker AJ, Sander T (2019) No evidence for a BRD2 promoter
hypermethylation in blood leukocytes of Europeans with juvenile myoclonic
epilepsy. Epilepsia 60:e31-e36. PMID: 30719712
- Schwarz E, Doan NT, Pergola G,
Westlye LT, Kaufmann T, Wolfers T, Brecheisen R, Quarto T, Ing AJ, Di Carlo P,
Gurholt TP, Harms RL, Noirhomme Q, Moberget T, Agartz I, Andreassen OA, Bellani
M, Bertolino A, Blasi G, Brambilla P, Buitelaar JK, Cervenka S, Flyckt L,
Frangou S, Franke B, Hall J, Heslenfeld DJ, Kirsch P, McIntosh AM, Nöthen MM, Papassotiropoulos A, de
Quervain DJ, Rietschel M, Schumann G, Tost H, Witt SH, Zink M, Meyer-Lindenberg
A; IMAGEMEND Consortium, Karolinska Schizophrenia Project (KaSP) Consortium
(2019) Reproducible grey matter patterns index a multivariate, global
alteration of brain structure in schizophrenia and bipolar disorder. Translational
Psychiatry Jan 17;9(1):12. doi: 10.1038/s41398-018-0225-4. PMID: 30664633
- Schweiger JI, Bilek E, Schäfer A,
Braun U, Moessnang C, Harneit A, Post P, Otto K, Romanczuk-Seiferth N, Erk S,
Wackerhagen C, Mattheisen M, Mühleisen TW, Cichon S, Nöthen MM, Frank J, Witt SH, Rietschel M, Heinz A, Walter H,
Meyer-Lindenberg A, Tost H (2019) Effects of BDNF Val66Met genotype and
schizophrenia familial risk on a neural functional network for cognitive
control in humans. Neuropsychopharmacology 44:590-597. PMID: 30375508
- Seppälä TT, Ahadova A,
Dominguez-Valentin M, Macrae F, Evans DG, Therkildsen C, Sampson J, Scott R,
Burn J, Möslein G, Bernstein I, Holinski-Feder E, Pylvänäinen K,
Renkonen-Sinisalo L, Lepistö A, Lautrup CK, Lindblom A, Plazzer JP, Winship I,
Tjandra D, Katz LH, Aretz S,
Hüneburg R, Holzapfel S, Heinimann K, Valle AD, Neffa F, Gluck N, de Vos Tot
Nederveen Cappel WH, Vasen H, Morak M, Steinke-Lange V, Engel C, Rahner N,
Schmiegel W, Vangala D, Thomas H, Green K, Lalloo F, Crosbie EJ, Hill J, Capella
G, Pineda M, Navarro M, Blanco I, Ten Broeke S, Nielsen M, Ljungmann K, Nakken
S, Lindor N, Frayling I, Hovig E, Sunde L, Kloor M, Mecklin JP, Kalager M,
Møller P (2019) Lack of association between screening interval and cancer stage
in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch
syndrome database report. Hereditary Cancer in Clinical Practice Feb 28;17:8.
doi: 10.1186/s13053-019-0106-8. eCollection 2019. PMID: 30858900
- Sharma A, Fröhlich H, Zhang R, Ebert AK, Rösch W, Reis H,
Kristiansen G, Ellinger J, Reutter H
(2019) Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome
analysis provide no evidence for underlying disease-mechanisms of this
association. Cancer Genetics 235-236:18-20. PMID: 31296310
- Spalthoff R, Degenhardt F, Awasthi S, Heilmann-Heimbach
S, Besteher B, Gaser C, Ripke S, Nöthen
MM, Nenadić I (2019) Effects of a neurodevelopmental genes based polygenic
risk score for schizophrenia and single gene variants on brain structure in
non-clinical subjects: A preliminary report. Schizophrenia Research
212:225-228. PMID: 31395486
-
Spier
I, Engels H, Stutte S, Reutter
H, Bartels E, Matos Meder S, Begemann M, Mangold
E, Eggermann T (2019) Male infant with paternal uniparental diploidy
mosaicism and a 46,XX/46,XY karyotype. American Journal of Medical Genetics
Part A 179:2252-2256. PMID: 31373173
- Stahl EA, Breen G, Forstner AJ,…, Degenhardt F, …, Herms S, …,
Hoffmann P, …, Maaser A, …, Nöthen
MM,… Kelsoe J, Sklar P; Bipolar
Disorder Working Group of the Psychiatric Genomics Consortium (2019) Genome-wide
association study identifies 30 loci associated with bipolar disorder. Nature
Genetics 51:793-803. PMID: 31043756
- Suerink M, Rodríguez-Girondo M, van
der Klift HM, Colas C, Brugieres L, Lavoine N, Jongmans M, Munar GC, Evans DG,
Farrell MP, Genuardi M, Goldberg Y, Gomez-Garcia E, Heinimann K, Hoell JI, Aretz S, Jasperson KW, Kedar I, Modi
MB, Nikolaev S, van Os TAM, Ripperger T, Rueda D, Senter L, Sjursen W, Sunde L,
Therkildsen C, Tibiletti MG, Trainer AH, Vos YJ, Wagner A, Winship I, Wimmer K,
Zimmermann SY, Vasen HF, van Asperen CJ, Houwing-Duistermaat JJ, Ten Broeke SW,
Nielsen M (2020) An alternative approach to establishing unbiased colorectal
cancer risk estimation in Lynch syndrome. Genetic Medicine 21:2706-2712. PMID: 31204389
- Takahashi H, Cornish AJ, Sud A, Law
PJ, Disney-Hogg L, Calvocoressi L, Lu L, Hansen HM, Smirnov I, Walsh KM,
Schramm J, Hoffmann P, Nöthen MM,
Jöckel KH, Schildkraut JM, Simon M, Bondy M, Wrensch M, Wiemels JL, Claus EB, Turnbull
C, Houlston RS (2019) Mendelian randomization provides support for obesity as a
risk factor for meningioma. Scientific Reports Jan 22;9(1):309. doi:
10.1038/s41598-018-36186-6. PMID: 30670737
- Ten Broeke SW, Rodríguez-Girondo M,
Suerink M, Aretz S, Bernstein I,
Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M,
Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N,
Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V,
Wagner A, Tops CMJ, Nielsen M (2019) The Apparent Genetic Anticipation in
PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.
Cancer Epidemiology, Biomarkers & Prevention 28:1010-1014. PMID: 30824524
- Thomsen H, Chattopadhyay S, Weinhold
N, Vodicka P, Vodickova L, Hoffmann P,
Nöthen MM, Jöckel KH, Langer C,
Hajek R, Hallmans G, Pettersson-Kymmer U, Ohlsson C, Späth F, Houlston R,
Goldschmidt H, Hemminki K, Försti A (2019) Genome-wide association study of
monoclonal gammopathy of unknown significance (MGUS): comparison with multiple
myeloma. Leukemia 33:1817-1821. PMID: 30737484
- Trautmann M, Cyra M, Isfort I, Jeiler
B, Krüger A, Grünewald I, Steinestel K, Altvater B, Rossig C, Hafner S, Simmet
T, Becker J, Åman P, Wardelmann E,
Huss S, Hartmann W (2019) Phosphatidylinositol-3-kinase (PI3K)/akt signaling is
functionally essential in myxoid liposarcoma. Molecular Cancer Therapeutics
18:834-844. PMID: 30787173
- Vackova Z, Niebisch S, Triantafyllou
T, Becker J, Hess T, Kreuser N, Kanoni S, Deloukas P, Schüller V, Heinrichs SK,
Thieme R, Nöthen MM, Knapp M, Spicak
J, Gockel I, Schumacher J, Theodorou
D, Martinek J (2019) First genotype-phenotype study reveals HLA-DQβ1 insertion
heterogeneity in high-resolution manometry achalasia subtypes. United European
Gastroenterology Journal 7:45-51. PMID:
30788115
- van de Putte R, Wijers CHW, Reutter H, Vermeulen SH, Marcelis CLM,
Brosens E, Broens PMA, Homberg M, Ludwig M, Jenetzky E, Zwink N, Sloots CEJ, de
Klein A, Brooks AS, Hofstra RMW, Holsink SAC, van der Zanden LFM, Galesloot TE,
Tam PK, Steehouwer M, Acuna-Hidalgo R, Vorst MV, Kiemeney LA, Garcia-Barceló
MM, de Blaauw I, Brunner HG, Roeleveld N, van Rooij IALM (2019) Exome chip
association study excluded the involvement of rare coding variants with large
effect sizes in the etiology of anorectal malformations. PLoS One 14:e0217477.
doi: 10.1371/journal.pone.0217477. eCollection 2019. PMID: 31136621
- van Rooij IA, Ludwig KU, Welzenbach J,
Ishorst N, Thonissen M, Galesloot
TE, Ongkosuwito E, Bergé SJ, Aldhorae K, Rojas-Martinez A, Kiemeney LA,
Vermeesch JR, Brunner H, Roeleveld N, Devriendt K, Dormaar T, Hens G, Knapp M,
Carels C, Mangold E (2019)
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association
Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports
SH3PXD2A as a Clefting Susceptibility Gene. Genes (Basel) 2019 Dec 7;10(12).
pii: E1023. doi: 10.3390/genes10121023. PMID: 31817908. *These authors contributed equally to this work.
- Vos JR, Giepmans L, Röhl C, Geverink
N, Hoogerbrugge N; ERN GENTURIS [Aretz
S, Spier I] (2019) Boosting care and knowledge about hereditary cancer:
European reference network on genetic tumour risk syndromes. Familial Cancer
18:281-284. PMID: 30302652
- Walton E, Hibar D, Yilmaz Z,
Jahanshad N, Cheung J, Batury VL, Seitz J, Bulik CM; PGC-ED; ENIGMA Genetics Working Group [Nöthen MM],
Thompson PM, Ehrlich S (2019) Exploration of shared genetic architecture
between subcortical brain volumes and anorexia nervosa. Molecular Neurobiology
56:5146-5156. PMID: 30519816
Went M, Kinnersley B, Sud A, Johnson DC, Weinhold N, Försti A, van Duin M, Orlando G, Mitchell JS, Kuiper R, Walker BA, Gregory WM,
Hoffmann P
- , Jackson
GH, Nöthen MM, da Silva Filho MI,
Thomsen H, Broyl A, Davies FE, Thorsteinsdottir U, Hansson M, Kaiser M,
Sonneveld P, Goldschmidt H,
Stefansson K, Hemminki K, Nilsson B, Morgan GJ, Houlston RS (2019) Transcriptome-wide
association study of multiple myeloma identifies candidate susceptibility
genes. Human Genomics 13:37. doi: 10.1186/s40246-019-0231-5. PMID: 31429796
- Yu D, Sul JH, Tsetsos F, Nawaz MS, … ,
Singer HS, Nöthen MM, Hebebrand J,
Hinney A, King RA, Fernandez TV, Barta C, …, Davis LK, Paschou P, Coppola G,
Mathews CA, Scharf JM; Tourette Association of America International Consortium
for Genetics, the Gilles de la Tourette GWAS Replication Initiative, the
Tourette International Collaborative Genetics Study, and the Psychiatric
Genomics Consortium Tourette Syndrome Working Group (2019) Interrogating the
genetic determinants of Tourette's syndrome and other tic disorders through
genome-wide association studies. American Journal of Psychiatry 176:217-227.
PMID: 30818990
- Zeck F, Reutter H (2019) Gastrointestinal diseases among relatives of patients with esophageal atresia with or without tracheoesophageal fistula. Translational Pediatrics 8:378-382. PMID: 31993350
Übersichtsarbeiten / Bücher / Kommentare 2019
- Frank J, Betz RC (2019) Haaranomalien bei syndromalen Erkrankungen [Hair
anomalies in syndromic disorders]. Hautarzt 70:514-519. PMID: 31197391. Review
- Frese S, Weigert A, Hoppe B,
Feldkötter M, Ludwig M, Weber S, Kiliś-Pstrusińska K, Zaniew M, Reutter H, Hilger AC (2019) A classic twin study of lower urinary tract
obstruction: Report of 3 cases and literature review. Lower Urinary Tract
Symptoms 11:O85-O88. PMID: 29664229. Review
- Horn LC, Emons G, Aretz S, Bock N, Follmann M, Lax S,
Nothacker M, Steiner E, Mayr D; Deutsche Krebsgesellschaft (DKG); Kommission
zur Erstellung der S3-Leitlinie „Diagnostik, Therapie und Nachsorge der
Patientinnen mit Endometriumkarzinom“ (2019) S3-Leitlinie Diagnostik und
Therapie des Endometriumkarzinoms. [S3 guidelines on the diagnosis and
treatment of carcinoma of the endometrium: Requirements for pathology].
Pathologe 40:21-35. PMID: 30756154. Review
- Hüneburg R, Aretz S, Büttner R, Daum S, Engel C, Fechner G, Habermann JK,
Heling D, Hoffmann K, Holinski-Feder E, Kloor M, von Knebel-Döberitz M,
Loeffler M, Möslein G, Perne C,
Redler S, Rieß O, Schmiegel W, Seufferlein T, Siebers-Renelt U, Steinke-Lange
V, Tecklenburg J, Vangala D, Vilz T, Weitz J, Wiedenmann B, Strassburg CP,
Nattermann J (2019) Empfehlungen zur Früherkennung, Risikoreduktion,
Überwachung und Therapie bei Patienten mit Lynch-Syndrom [Current
recommendations for surveillance, risk reduction and therapy in Lynch syndrome
patients]. Zeitschrift für Gastroenterologie 57:1309-1320. PMID: 31739377
-
Ludwig
KU, Degenhardt F, Nöthen MM (2019): Die Rolle seltener Varianten bei
häufigen Krankheiten [The role of rare variants in common diseases].
Medizinische Genetik 31:212-221.
- Nöthen MM (2019) Fortschritte bei der Diagnostik und Therapie erblicher Krankheiten.in: Erzbischöfliches Generalvikariat Paderborn. Ärztetag 2018: Molekulare Medizin – Möglichkeiten, Grenzen, Risiken. S. 19-25.
-
Nöthen
MM, Degenhardt F, Forstner AJ (2019) Durchbrüche im Verständnis der
molekularen Ursachen psychiatrischer Störungen [Breakthrough in understanding
the molecular causes of psychiatric disorders]. Nervenarzt 90:99-106. doi:
10.1007/s00115-018-0670-6. Review.PMID:
30758637
-
Nöthen
MM, Degenhardt F, Forstner AJ (2019) Molekulargenetische
Erkenntnisse erweitern das Verständnis psychiatrischer Störungen [Molecular
genetic knowledge extends the understanding of psychiatric disorders].
Nervenarzt 90:742-744. PMID: 31187174
-
Spier I, Hüneburg R, Vilz T, Aretz S. Gastrointestinale Polyposis-Syndrome (2019) Journal
Onkologie 9:29-44. Review
- Spier I, Hüneburg R, Vilz T, Aretz S. Gastrointestinale Polyposis-Syndrome (2019) Journal Onkologie 12: 33-41. Review