institut für humangenetik (ihg)

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2011

Adler ID, Favor J. Memorial for Udo H. Ehling (1928-2010). Environ Mol Mutagen. 2011 Apr;52(3):171-3. doi: 10.1002/em.20640. Epub 2011 Jan 6. PubMed PMID: 21381114

Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM,
Hehir-Kwa JY, Kroes HY, de Faber JT, van Schooneveld MJ, Heckenlively JR, Hoyng
CB, den Hollander AI, Cremers FP. High-Resolution Homozygosity Mapping Is a
Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in
the Dutch Population. Invest Ophthalmol Vis Sci. 2011 Apr 6;52(5):2227-39. Print
2011 Apr. PubMed PMID: 21217109

Danhauser K, Iuso A, Haack TB, Freisinger P, Brockmann K, Mayr JA, Meitinger
T
, Prokisch H. Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. Mol Genet Metab. 2011 Mar 30. [Epub ahead
of print] PubMed PMID: 21458341

Del Río P, Irmler M, Arango-González B, Favor J, Bobe C, Bartsch U, Vecino E, Beckers J, Hauck SM, Ueffing M. GDNF-induced osteopontin from Müller glial cells promotes photoreceptor survival in the Pde6b(rd1) mouse model of retinal degeneration. Glia. 2011 May;59(5):821-32. doi: 10.1002/glia.21155. Epub 2011 Feb 28. PubMed PMID: 21360756

Fox ER, Young JH, Li Y, Dreisbach AW, Keating BJ, Musani SK, Liu K, Morrison
AC, Ganesh S, Kutlar A, Ramachandran VS, Polak JF, Fabsitz RR, Dries DL, Farlow
DN, Redline S, Adeyemo A, Hirschorn JN, Sun YV, Wyatt SB, Penman AD, Palmas W,
Rotter JI, Townsend RR, Doumatey AP, Tayo BO, Mosley TH Jr, Lyon HN, Kang SJ,
Rotimi CN, Cooper RS, Franceschini N, Curb JD, Martin LW, Eaton CB, Kardia SL,
Taylor HA, Caulfield MJ, Ehret GB, Johnson T; The International Consortium for Blood Pressure Genome-wide Association Studies (ICBP-GWAS); CARDIoGRAM consortium; CKDGen consortium; KidneyGen consortium; EchoGen consortium; CHARGE-HF consortium, Chakravarti A, Zhu X, Levy D. Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. Hum Mol Genet. 2011 Apr 8. [Epub ahead of print] PubMed PMID: 21378095

Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ,
Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rötig A, de Coo
IF, Smeets HJ. Riboflavin-responsive oxidative phosphorylation complex I
deficiency caused by defective ACAD9: new function for an old gene. Brain. 2011
Jan;134(Pt 1):210-9. Epub 2010 Oct 7. PubMed PMID: 20929961

Greif PA, Eck SH, Konstandin NP, Benet-Pagès A, Ksienzyk B, Dufour A, Vetter
AT, Popp HD, Lorenz-Depiereux B, Meitinger T, Bohlander SK, Strom TM.
Identification of recurring tumor-specific somatic mutations in acute myeloid
leukemia by transcriptome sequencing. Leukemia. 2011 Feb 22. [Epub ahead of
print] PubMed PMID: 21339757

Guelly C, Zhu PP, Leonardis L, Papić L, Zidar J, Schabhüttl M, Strohmaier H,
Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M,
Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M. Targeted
high-throughput sequencing identifies mutations in atlastin-1 as a cause of
hereditary sensory neuropathy type I. Am J Hum Genet. 2011 Jan 7;88(1):99-105.
Epub 2010 Dec 30. PubMed PMID: 21194679; PubMed Central PMCID: PMC3014370

Kowarik MC, Langer S, Keri C, Hemmer B, Oexle K, Winkelmann J. Myoclonus-dystonia in 18p deletion syndrome. Mov Disord. 2011 Feb 15;26(3):560-1. doi: 10.1002/mds.23446. Epub 2010 Dec 13. PubMed PMID: 21462265

Meder B, Haas J, Keller A, Heid C, Just S, Borries A, Boisguerin V, Scharfenberger-Schmeer M, Stähler P, Beier M, Weichenhan D, Strom TM, Pfeufer A, Korn B, Katus HA, Rottbauer W. Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet. 2011 Apr 1;4(2):110-22. Epub 2011 Jan 20. PubMed PMID: 21252143

International Parkinson Disease Genomics Consortium, Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón-Sánchez J, Schulte C, Lesage S, Sveinbjörnsdóttir S, Stefánsson K, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011 Feb 19;377(9766):641-9. Epub 2011 Feb 1. PubMed PMID: 21292315

Oexle K, Meitinger T. Sampling GWAS subjects from risk populations. Genet Epidemiol. 2011 Apr;35(3):148-53. doi: 10.1002/gepi.20562. Epub 2011 Feb 16. PubMed PMID: 21328614

Oexle K, Hempel M, Jauch A, Meitinger T, Rivera-Brugués N, Stengel-Rutkowski S, Strom T. 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. Eur J Med Genet. 2011 Jan 4. [Epub
ahead of print] PubMed PMID: 21211577

Oexle K, Ried JS, Hicks AA, Tanaka T, Hayward C, Bruegel M, Gögele M, Lichtner P, Müller-Myhsok B, Döring A, Illig T, Schwienbacher C, Minelli C, Pichler I, Fiedler GM, Thiery J, Rudan I, Wright AF, Campbell H, Ferrucci L, Bandinelli S, Pramstaller PP, Wichmann HE, Gieger C, Winkelmann J, Meitinger T. Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Hum Mol Genet. 2011 Mar 1;20(5):1042-7. Epub 2010 Dec 10. PubMed PMID: 21149283; PubMed Central PMCID:
PMC3033185

Schulte EC, Knauf F, Kemlink D, Schormair B, Lichtner P, Gieger C, Meitinger T, Winkelmann J. Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome. Neurology. 2011 Mar 22;76(12):1106-8. PubMed PMID: 21422461

Schunkert H, König IR, Kathiresan S, Reilly MP, Assimes TL, Holm H, Preuss M, Stewart AF, Barbalic M, Gieger C, Absher D, Aherrahrou Z, Allayee H, Altshuler D, Anand SS, Andersen K, Anderson JL, Ardissino D, Ball SG, Balmforth AJ, Barnes TA, Becker DM, Becker LC, Berger K, Bis JC, Boekholdt SM, Boerwinkle E, Braund PS, Brown MJ, Burnett MS, Buysschaert I; Cardiogenics, Carlquist JF, Chen L, Cichon S, Codd V, Davies RW, Dedoussis G, Dehghan A, Demissie S, Devaney JM, Diemert P, Do R, Doering A, Eifert S, Mokhtari NE, Ellis SG, Elosua R, Engert JC, Epstein SE, de Faire U, Fischer M, Folsom AR, Freyer J, Gigante B, Girelli D, Gretarsdottir S, Gudnason V, Gulcher JR, Halperin E, Hammond N, Hazen SL, Hofman A, Horne BD, Illig T, Iribarren C, Jones GT, Jukema JW, Kaiser MA, Kaplan LM, Kastelein JJ, Khaw KT, Knowles JW, Kolovou G, Kong A, Laaksonen R, Lambrechts D, Leander K, Lettre G, Li M, Lieb W, Loley C, Lotery AJ, Mannucci PM, Maouche S, Martinelli N, McKeown PP, Meisinger C, Meitinger T, Melander O, Merlini PA, Mooser V, Morgan T, Mühleisen TW, Muhlestein JB, Münzel T, Musunuru K, Nahrstaedt J, Nelson CP, Nöthen MM, Olivieri O, Patel RS, Patterson CC, Peters A, Peyvandi F, Qu L, Quyyumi AA, Rader DJ, Rallidis LS, Rice C, Rosendaal FR, Rubin D,
Salomaa V, Sampietro ML, Sandhu MS, Schadt E, Schäfer A, Schillert A, Schreiber
S, Schrezenmeir J, Schwartz SM, Siscovick DS, Sivananthan M, Sivapalaratnam S,
Smith A, Smith TB, Snoep JD, Soranzo N, Spertus JA, Stark K, Stirrups K, Stoll M,
Tang WH, Tennstedt S, Thorgeirsson G, Thorleifsson G, Tomaszewski M, Uitterlinden
AG, van Rij AM, Voight BF, Wareham NJ, Wells GA, Wichmann HE, Wild PS, Willenborg
C, Witteman JC, Wright BJ, Ye S, Zeller T, Ziegler A, Cambien F, Goodall AH,
Cupples LA, Quertermous T, März W, Hengstenberg C, Blankenberg S, Ouwehand WH,
Hall AS, Deloukas P, Thompson JR, Stefansson K, Roberts R, Thorsteinsdottir U,
O'Donnell CJ, McPherson R, Erdmann J; CARDIoGRAM Consortium, Samani NJ.
Large-scale association analysis identifies 13 new susceptibility loci for
coronary artery disease. Nat Genet. 2011 Mar 6;43(4):333-8. PubMed PMID:
21378990

Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval
SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera
CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi
H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J,
Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner
A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Hexosamine
biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum
Genet. 2011 Feb 11;88(2):162-72. PubMed PMID: 21310273; PubMed Central PMCID:
PMC3035713

Sibbing D, Pfeufer A, Perisic T, Mannes AM, Fritz-Wolf K, Unwin S, Sinner MF, Gieger C, Gloeckner CJ, Wichmann HE, Kremmer E, Schäfer Z, Walch A, Hinterseer M, Näbauer M, Kääb S, Kastrati A, Schömig A, Meitinger T, Bornkamm GW, Conrad M, von Beckerath N. Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy. Eur Heart J. 2011 Jan 18. [Epub ahead of print] PubMed PMID: 21247928.

Sinner MF, Ellinor PT, Meitinger T, Benjamin EJ, Kääb S. Genome-wide association studies of atrial fibrillation: past, present, and future. Cardiovasc Res. 2011 Mar 1;89(4):701-9. Epub 2011 Jan 18. PubMed PMID: 21245058; PubMed Central PMCID: PMC3039249