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2016  

Alisch, Franz; Weichert, Alexander; Kalache, Karim; Paradiso, Viola; Longardt, Ann Carolin; Dame, Christof; Hoffmann, Katrin; Horn, Denise (2016): Familial Gordon syndrome associated with a PIEZO2 mutation. In: American journal of medical genetics. Part A. DOI: 10.1002/ajmg.a.37997.

Foja, SabineHoffmann, Katrin; Auw-Haedrich, Claudia; Reinhard, Thomas; Rupprecht, Andreas; Gruenauer-Kloevekorn, Claudia (2016): Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies. In: International ophthalmology 36 (6), S. 867–873. DOI: 10.1007/s10792-016-0216-5. 

Job, Florian; Mizumoto, Shuji; Smith, Laurie; Couser, Natario; Brazil, Ashley; Saal, Howard, Patterson, Melanie; Gibson Margaret I.; Soden, Sarah; Miller, Neil; Thiffault, Isabelle; Saunders, Carol; Yamada, Shuhei; Hoffmann, Katrin; Sugahara, Kazuyuki; Farrow, Emily (2016): Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype. In: BMC medical genetics 17 (1), S. 86. DOI: 10.1186/s12881-016-0344-9. 

Kouz, Karim; Lissewski, Christina; Spranger, Stephanie; Mitter, Diana; Riess, Angelika; Lopez-Gonzalez, Vanesa; Lüttgen, Sabine; Aydin, Hatip; von Deimling, Florian; Evers, Christina; Hahn, Andreas; Hempel, Maja; Issa, Ulrike; Kahlert, Anne-Karin; Lieb, Adrian; Villavicencio-Lorini, Pablo et al. (2016): Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. In: Genetics in medicine : official journal of the American College of Medical Genetics. DOI: 10.1038/gim.2016.32. 

Li, Yong; Salfelder, Anika; Schwab, Karl Otfried; Grunert, Sarah Catharina; Velten, Tanja; Lutjohann, Dieter; Villavicencio-Lorini, Pablo et al. (2016): Against all odds: blended phenotypes of three single-gene defects. In: European journal of human genetics : EJHG 24 (9), S. 1274–1279. DOI: 10.1038/ejhg.2015.285. 

Luther, M.; Grunauer-Kloevekorn, C.; Weidle, E.; Passarge, E.; Rupprecht, A.; Hoffmann, K.Foja, S. (2016): TGC-Repeats im Intron 2 des TCF4-Gens haben eine grosse Vorhersagekraft bezuglich Fuchs-Hornhautendotheldystrophie. In: Klinische Monatsblatter fur Augenheilkunde 233 (2), S. 187–194. DOI: 10.1055/s-0035-1546138.  

Miehle, Konstanze; Porrmann, Joseph; Mitter, Diana; Stumvoll, Michael; Glaser, Christiane; Fasshauer, Mathias; Hoffmann, Katrin (2016): Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. In: Clinical endocrinology 84 (1), S. 141–148. DOI: 10.1111/cen.12837. 

Schnipper, Nele; Stassen, Hans H.; Kallinich, Tilmann; Sperling, Karl; Hoffmann, Katrin (2016): Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with Pelger-Huet-Anomaly and treated with Colchicine. In: Cytometry. Part B, Clinical cytometry. DOI: 10.1002/cyto.b.21484.

Schulz, Susanne; Immel, Uta Dorothee; Just, Louise; Schaller, Hans-Gunter; Glaeser, Christiane; Reichert, Stefan (2016): Epigenetic characteristics in inflammatory candidate genes in aggressive periodontitis. In: Human immunology 77 (1), S. 71–75. DOI: 10.1016/j.humimm.2015.10.007.

Seemanova, Eva; Varon, Raymonda; Vejvalka, Jan; Jarolim, Petr; Seeman, Pavel; Chrzanowska, Krystyna H.; Digweed, Martin; Resnick, Igor; Kremensky, Ivo; Saar, Kathrin; Hoffmann, Katrin et al. (2016): The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? In: PloS one 11 (12), e0167984. DOI: 10.1371/journal.pone.0167984. 

Willkomm, Lena; Heredia, Raul; Hoffmann, Katrin; Wang, Haicui; Voit, Thomas; Hoffman, Eric P.; Cirak, Sebahattin (2016): Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. In: Journal of human genetics 61 (6), S. 571–573. DOI: 10.1038/jhg.2016.6. 

Ziesenitz, Victoria C.; Loukanov, Tsvetomir; Glaeser, Christiane; Gorenflo, Matthias (2016): Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation. In: Cardiology in the young 26 (1), S. 164–167. DOI: 10.1017/S1047951114002753.

Dissertation

Porrmann J (2016) Molekulargenetische Untersuchung und Phänotypkorrelation von Patienten mit Verdacht auf hereditäre Lipodystrophien. Dissertation

2015

Dutta UR, Hansmann I, Schlote D (2015) Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature. EUR J MED GENET, 58:154-9

Luetzkendorf J, Nerger K, Hering J, Moegel A, Hoffmann K, Hoefers C, Mueller-Tidow C, Mueller LP (2015) Cryopreservation does not alter main characteristics of Good Manufacturing Process-grade human multipotent mesenchymal stromal cells including immunomodulating potential and lack of malignant transformation. CYTOTHERAPY, 17:186-98

Grünert SC, Wehrle A, Villavicencio-Lorini P, Lausch E, Vetter B, Schwab KO, Tucci S, Spiekerkoetter U  (2015) Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. BMC Med Genet 16:56

Pfirrmann T, Emmerich D, Ruokonen P, Quandt D, Buchen R, Fischer-Zirnsak B, Hecht J, Krawitz P, Meyer P, Klopocki E, Stricker S, Lausch E, Seliger B, Hollemann T, Reinhard T, Auw-Haedrich C, Zabel B, Hoffmann K and Villavicencio-Lorini P (2015) Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model. Human molecular genetics 24, 3119-3132

Pfirrmann T, Villavicencio-Lorini P, Subudhi AK, Menssen R, Wolf DH and Hollemann T (2015) RMND5 from Xenopus laevis Is an E3 Ubiquitin-Ligase and Functions in Early Embryonic Forebrain Development. PloS One 10, e0120342

Job F, Settle F, Lorey S, Rundfeldt C, Baumann L, Beck-Sickinger AG, Haupts U, Lilie H, Bosse-Doenecke E (2015) Ubiquitin is a versatile scaffold protein for the generation of molecules with de novo binding and advantageous drug-like properties. FEBS OPEN BIO, 5:579-93

Komatsuzaki S, Ogawa E, Shimozawa N, Sakamoto O, Haginoya K, Uematsu M, Hasegawa Y, Matsubara Y, Ohura T (2015) First Japanese case of Zellweger syndrome with a mutation in PEX14. PEDIATR INT, 57:1189-92

Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J (2015) THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. Am J Hum Genet. 97(2):302-10

Liu X, Weidle K, Schröck K, et al. Signatures of Natural Selection at the FTO (Fat Mass and Obesity Associated) Locus in Human Populations. Zhang G, ed. PloS ONE. 2015;10(2):e0117093. doi:10.1371/journal.pone.0117093

Sauer SW, Opp S, Komatsuzaki S, Blank AE, Mittelbronn M, Burgard P, Koeller DM, Okun JG, Kölker S (2015) Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I. BBA-MOL CELL RES, 1852:768-77

Wege N, Schutkowski A, Boenn M, Bialek J, Schlitt A, Noack F, Grosse I, Stangl GI (2015) Men and woman differ in their diurnal expression of monocyte peroximose proliferator-activated receptor-? in the fed but not in the fasted state. FASEB J, 29:2905-11

2014

Ezgu F, KrejEzgu F, Krejci P, Li S, de Sousa C, Graham JJ, Hansmann I, He W, Porpora K, Wand D, Wertelecki W, Schneider A, Wilcox WR (2014) Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome. CLIN GENET, Jul;86(1):74-84

Hamann L, Glaeser C, Schulz S, Gross M, Franke A, Nöthlings U, Schumann RR (2014) A mirco RNA-146a polymorphism is associated with coronary restenosis. INT J IMMUNOGENET, 41:393-6

Schulz S, Reichert S, Streetz K, Trautwein C, Reichert Y, Gläser C, Schaller HG, Stein JM (2014) Tumor necrosis factor-? and oral inflammation in patients with Crohn disease. J PERIODONTOL, 85:1424-31

Thieme T, Patzschke R, Job F, Liebold J, Seemann P, Lilie H, Balbach J, Schwarze E (2014) Biophysical and structural characterization of a folded core domain within the proregion of growth and differentiation factor-5. FEBS J, 281:4866-77

Weber T, Wickenhauser C, Monecke A, Gläser C, Stadler M, Desole M, Ligeti K, Behrmann C, Müller-Tidow C, Müller LP (2014) Treatment of rare co-occurrence of Epstein-Barr virus-driven post-transplant lymphoproliferative disorder and hemophagocytic lymphohistiocytosis after allogeneic stem cell transplantation. Transpl Infect Dis, 16:988-92

Dissertation

Arelin M (2014) Ein neues autosomal-rezessives Syndrom mit schwerer mentaler Retardierung und Mikrozephalie: Genkartierung und indirekte Pränataldiagnostik. Dissertation 

2013

Arélin M, Schulze B, Müller-Myhsok B, Horn D, Diers A, Uhlenberg B, Nürnberg P, Nürnberg G, Becker C, Mundlos S, Lindner TH, Sperling K, Hoffmann K (2013) Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. Eur J Hum Genet, 21: 367-72

Burghoff S, Flögel U, Bongardt S, Burkart V, Sell H, Tucci S, Ikels K, Eberhard D, Kern M, Klöting N, Eckel J, Schrader J (2013) Deletion of CD73 promotes dyslipidemia and intramyocellular lipid accumulation in muscle of mice. ARCH PHYSIOL BIOCHEM, 119: 39-51

Ding Z, Burghoff S, Buchheiser A, Kögler G, Schrader J (2013) Survival, integration, and differentiation of unrestricted somatic stem cells in the heart. CELL TRANSPLANT, 22: 15-27

Foja S, Jung M, Harwardt B, Riemann D, Pelz-Ackermann O, Schroeder IS (2013) Hypoxia supports reprogramming of mesenchymal stromal cells via induction of embryonic stem cell-specific microRNA-302 cluster and pluripotency-associated genes. Cell Reprogram, 15: 68-79

Grünert SC, Villavicencio-Lorini P, Wermuth B, Lehnert W, Sass JO, Schwab KO (2013) Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. J Diabetes Metab Disord, 12: 37

Hamann L, Koch A, Sur S, Hoefer N, Glaeser C, Schulz S, Gross M, Franke A, Nöthlings U, Zacharowski K, Schumann RR (2013) Association of a common TLR-6 polymorphism with coronary artery disease - implications for healthy ageing? Immun Ageing, 10: 43

Heller R, Hoffmann K. Genetische Diagnostik und Beratung bei Arthrogryposis Medizinische Genetik; 2013(3)

Schulz S, Schlitt A, Lutze A, Lischewski S, Seifert T, Dudakliewa T, Gawe R, Werdan K, Hofmann B, Gläser C, Schaller HG, Reichert S (2013) Genetic variants in TNF? and the one-year cardiovascular outcome in patients with coronary heart disease. Int J Cardiol, 168: 1688-90

Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D (2013) Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. Eur J Hum Genet, 21: 743-8

Zlomuzica A, Burghoff S, Schrader J, Dere E (2013) Superior working memory and behavioural habituation but diminished psychomotor coordination in mice lacking the ecto-5'-nucleotidase (CD73) gene. Purinergic Signal, 9: 175-82

Dissertationen

Baasanjav S (2013) Identifizierung und Charakterisierung genetischer Ursachen von Skelettdysplasien. Dissertation

Matthes F (2013) Klonierung und Charakterisierung beider chromosomalen Bruchpunkte einer reziproken Translokation t(17;20)(q25;q13) bei einer Patientin mit Silver-Russel-Syndrom. Dissertation 

Uhle I (2013) Molekularzytogenetische Charakterisierung einer inv(6)(p12.3q25.3) bei einem Patienten mit Dysmorphiezeichen. Dissertation

2012

Bönner F, Borg N, Burghoff S, Schrader J (2012) Resident cardiac immune cells and expression of the ectonucleotidase enzymes CD39 and CD73 after ischemic injury. PLoS One, 7: e34730

Flögel U, Burghoff S, van Lent PLEM, Temme S, Galbarz L, Ding Z, El-Tayeb A, Huels S, Bönner F, Borg N, Jacoby C, Müller CE, van den Berg WB, Schrader J (2012) Selective activation of adenosine A2A receptors on immune cells by a CD73-dependent prodrug suppresses joint inflammation in experimental rheumatoid arthritis. SCI TRANSL MED, 4: 146ra108

Graul-Neumann LM, Hoffmann K, Robinson P, Horn D. Progeroide Variante eines Marfan-Syndroms-Eine neue Entität. Medgen. 2012 24: 279-283

Ott CE, Hein H, Lohan S, Hoogeboom J, Foulds N, Grünhagen J, Stricker S, Villavicencio-Lorini P, Klopocki E, Mundlos S (2012) Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. J MED GENET, 49: 437-41

Parthey K, Kornhuber M, Kunze C, Wand D, Nolte KW, Nikolin S, Weis J, Schröder JM (2012) SOX10 mutation with peripheral amyelination and developmental disturbance of axons. Muscle Nerve, 45: 284-90

Schulz S, Schlitt A, Lutze A, Lischewski S, Seifert T, Dudakliewa T, Gawe R, Werdan K, Hofmann B, Gläser C, Schaller HG, Reichert S (2012) The importance of genetic variants in TNF for periodontal disease in a cohort of coronary patients. J Clin Periodontol, 39: 699-706

Strotmann R, Schröck K, Böselt I, Stäubert C, Russ A, Schöneberg T (2011) Evolution of GPCR: change and continuity. Mol Cell Endocrinol, 331: 170-8

Dissertation

Gravemann S (2012) Effect of lamin B receptor mutations on the expression and distribution of LBR interaction partners. Dissertation

2011

Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SAA, Langer R, Saleh AAH, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nürnberg P, Sugahara K, Mundlos S, Hoffmann K (2011) Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. AM J HUM GENET, 89: 15-27

Buchheiser A, Ebner A, Burghoff S, Ding Z, Romio M, Viethen C, Lindecke A, Köhrer K, Fischer JW, Schrader J (2011) Inactivation of CD73 promotes atherogenesis in apolipoprotein E-deficient mice. CARDIOVASC RES, 92: 338-47

Burghoff S, Schrader J (2011) Secretome of human endothelial cells under shear stress. J PROTEOME RES, 10: 1160-9

Engel KMY, Schröck K, Teupser D, Holdt LM, Tönjes A, Kern M, Dietrich K, Kovacs P, Krügel U, Scheidt HA, Schiller J, Huster D, Brockmann GA, Augustin M, Thiery J, Blüher M, Stumvoll M, Schöneberg T, Schulz A (2011) Reduced food intake and body weight in mice deficient for the G protein-coupled receptor GPR82. PLoS One, 6: e29400

Hagen A, Bigl A, Wand D, Klopocki E, Heller R, Siekmeyer M, Siekmeyer W, Kiess W, Merkenschlager A (2011) Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings. AM J MED GENET A, 155A: 3075-81

Hoffmann K, Heller R (2011) Uniparental disomies 7 and 14. BEST PRACT RES CL EN, 25: 77-100

Horn P, Cortese-Krott MM, Keymel S, Kumara I, Burghoff S, Schrader J, Kelm M, Kleinbongard P (2011) Nitric oxide influences red blood cell velocity independently of changes in the vascular tone. FREE RADICAL RES, 45: 653-61

Kalk P, Sharkovska Y, Kashina E, von Websky K, Relle K, Pfab T, Alter M, Guillaume P, Provost D, Hoffmann K, Fischer Y, Hocher B (2011) Endothelin-converting enzyme/neutral endopeptidase inhibitor SLV338 prevents hypertensive cardiac remodeling in a blood pressure-independent manner. Hypertension, 57: 755-63

Knierim E, Leisle L, Wagner C, Weschke B, Lucke B, Bohner G, Dreier JP, Schuelke M (2011) Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. Stroke, 42: e14-7

Knierim E, Lucke B, Schwarz JM, Schuelke M, Seelow D (2011) Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing. PLoS One, 6: e28240

Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA (2011) Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nat Genet, 43: 1189-92

Reichert S, Stein JM, Klapproth J, Zimmermann U, Reichert Y, Gläser C, Schaller HG, Schulz S (2011) The genetic impact of the Q551R interleukin-4 receptor alpha polymorphism for aggressive or chronic periodontitis and the occurrence of periodontopathic bacteria. Arch Oral Biol, 56: 1485-93

Romio M, Reinbeck B, Bongardt S, Hüls S, Burghoff S, Schrader J (2011) Extracellular purine metabolism and signaling of CD73-derived adenosine in murine Treg and Teff cells. AM J PHYSIOL-CELL PH, 301: C530-9

Schulz S, Stein JM, Altermann W, Klapproth J, Zimmermann U, Reichert Y, Gläser C, Schaller HG, Reichert S (2011) Single nucleotide polymorphisms in interleukin-1gene cluster and subgingival colonization with Aggregatibacter actinomycetemcomitans in patients with aggressive periodontitis. Hum Immunol, 72: 940-6

Shen W, Shi D, Wand D, Guo Y, Hai S, Yue Z (2011) Quinestrol treatment induced testicular damage via oxidative stress in male Mongolian gerbils (Meriones unguiculatus). EXP ANIM TOKYO, 60: 445-53

Dissertationen 

Hohner M (2011) Molekularzytogenetische Charakterisierung eines Deletions- bzw. Duplikationssyndroms im proximalen 15q Arm. Dissertation 

Kabisch A (2011) Untersuchungen zu genetischen Varianten von atheriosklerotischen Risikogenen in einer Population gesunder Blutspender der Region Halle-Merseburg-Bitterfeld. Dissertation 

Schmidt C (2011) Anwendung einer molekulargenetischen Stufendiagnostik bei klinischem Verdacht auf ein Alagille-Syndrom. Dissertation 

Other

Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bönnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Privé GG, Hannink M, Nürnberg P, Voit T. Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain. 2010 Jul;133(Pt 7):2123-35. 

Clayton P, Fischer B, Mann A, Mansour S, Rossier E, Veen M, Lang C, Baasanjav S, Brossuleit K, Gravemann S, Schnipper N, Karbasyian M, Demuth I, Zwerger M, Vaya A, Utermann G, Mundlos S, Stricker S, Sperling K, Hoffmann K. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of the Lamin B receptor. Nucleus 1 (4): 354 – 366, 2010. 

Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S. Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. BMC Med Genet. 2010 Jul 9;11:110.

Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A. 2010 Nov;152A(11):2749-55.

Gravemann S, Schnipper N, Meyer H, Vaya A, Nowaczyk MJM, Rajab A, Hofmann WK, Salewsky B, Tönnies H, Neitzel H, Stassen HH, Sperling K, Hoffmann K. Dosage effect of zero to three functional LBR-genes in vivo and in vitro. Nucleus 1: 1-12, 2010. 

Weise A, Timmermann B, Grabherr M, Werber M, Heyn P, Kosyakova N, Liehr T, Neitzel H, Konrat K, Bommer C, Dietrich C, Rajab A, Reinhardt R, Mundlos S, Lindner TH, Hoffmann K. High-throughput sequencing of microdissected chromosomal regions. Eur J Hum Genet 18: 457–462, 2010 

Pegoraro G, Kubben N, Wickert U, Göhler H, Hoffmann K, Misteli T. Ageing-related chromatin defects through loss of the NURD complex. Nat Cell Biol 11: 1261-1267, 2009

Tönjes A, Koriath M, Schleinitz D, Dietrich K, Böttcher Y, Rayner NW, Almgren P, Enigk B, Richter O, Rohm S, Fischer-Rosinsky A, Pfeiffer A, Hoffmann K, Krohn K, Aust G, Spranger J, Groop L, Blüher M, Kovacs P, Stumvoll M. Genetic variation in GPR133 is associated with height - Genome wide association study in the self-contained population of Sorbs. Hum Mol Genet 18: 4662-4668, 2009

Tönjes A, Zeggini E, Kovacs P, Böttcher Y, Schleinitz D, Dietrich K, Morris AP, Enigk B, Rayner NW, Koriath M, Eszlinger M, Kemppinen A, Prokopenko I, Hoffmann K, Teupser D, Thiery J, Krohn K, McCarthy MI, Stumvoll M. Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany. Eur J Hum Genet 18: 104-110, 2009

Seifert W, Beninde J, Hoffmann K, Lindner TH, Bassir C, Aksu F, Hübner C, Verbeek NE, Mundlos S, Horn D. HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.  Eur J Hum Genet 17: 1570-1576, 2009

Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet 5: e1000487, 2009

Stassen HH, Hoffmann K, Scharfetter C. The difficulties of reproducing conventionally derived results through 500k-chip technology. BMC Genetics Suppl. 7: S66, 2009

Seelow D, Göhler H, Hoffmann K. FragIdent - Automatic identification and characterisation of cDNA-fragments. BMC Genomics 10: 95, 2009

Hoffmann K, Planitz C, Rüschendorf F, Müller-Myhsok B, Stassen HH, Lucke B, Mattheisen M, Stumvoll M, Bochmann R, Zschornack M, Wienker TF, Nürnberg P, Reis A, Luft FC, Lindner TH. A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany. J Hypertens 27: 983-990, 2009

Türkmen S, Hoffmann K, Demirhan O, Aruoba D, Humphrey N, Mundlos S. Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. Eur J Hum Genet 16: 1070-1074, 2008

Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S. Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. Am J Med Genet 146A: 965-976, 2008

Sanggaard KM, Kjaer KW, Eiberg H, Nuernberg G, Nuernberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjærg L. A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. Am J Med Genet Part A 146A: 1017-1025, 2008

Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott C, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet 82: 464-476, 2008

Schwabe GC, Hoffmann K, Loges NK, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin J-L, Niggemann B, Omran H, Antonarakis SE, Bartoloni L. Primary ciliary dyskinesia with normal axoneme ultrastructure caused by DNAH11 mutations. Hum Mutat 29: 289-298, 2008

Seelow D, Hoffmann K, Lindner TH. AssociationDB: Web-based exploration of genomic association. Bioinformatics 23: 2643-2644, 2007

Hoffmann K, Mattheisen M, Dahm S, Nürnberg P, Roe C, Johnson J, Cox NJ, Wichmann HE, Wienker TF, Schulze J, Schwarz PE, Lindner TH. A German genomewide linkage scan for type 2 diabetes supports a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2. Diabetologia 50: 1418-1422, 2007

Hoffmann K, Sperling K, Olins AL, Olins DE. The granulocyte nucleus and lamin B receptor: avoiding the ovoid. Chromosoma 116: 227-235, 2007

Hoffmann K, Müller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal γ subunit. Am J Hum Genet 79: 303-312, 2006

Franke A, Wollstein A, Teuber M, Wittig M, Lu T, Hoffmann K, Nurnberg P, Krawczak M, Schreiber S, Hampe J. GENOMIZER: an integrated analysis system for genome-wide association data. Hum Mutat 27: 583-588, 2006

Berger M, Stassen HH, Kohler K, Krane V, Monks D, Wanner C, Hoffmann K, Hoffmann MM, Zimmer M, Bickeboller H, Lindner TH. Hidden population substructures in an apparently homogeneous population bias association studies. Eur J Hum Genet 14: 236-244, 2006

Türkmen S, Demirhan O, Hoffmann K, Diers A, Zimmer C, Sperling K, Mundlos S. Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. J Med Genet 43: 461-464, 2006

Hoffmann K, Lindner TH. easyLINKAGE-Plus – automated linkage analyses using large-scale SNP data. Bioinformatics 21: 3565-3567, 2005

Rajab A, Hoffmann K, Ganesh A, Sethu AU, Mundlos S. Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman. Am J Med Genet 134: 151-157, 2005

Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Megarbane A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet 37: 221-223, 2005

Lindner TH, Hoffmann K. easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics 21: 405-407, 2005

Dietter J, Spiegel A, an Mey D, Pflug HJ, Al-Kateb H, Hoffmann K, Wienker TF, Strauch K. Efficient two-trait-locus linkage analysis through program optimization and paralleli-zation: application to hypercholesterolemia. Eur J Hum Genet 12: 542-550, 2004

Stassen HH, Hoffman K, Scharfetter C. Similarity by state/descent and genetic vector spaces: analysis of a longitudinal family study. BMC Genet 4 Suppl 1: S59, 2003

Shultz LD, Lyons BL, Burzenski LM, Gott B, Samuels R, Schweitzer PA, Dreger C, Herrmann H, Kalscheuer V, Olins AL, Olins DE, Sperling K, Hoffmann K. Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly. Hum Mol Genet 12: 61-69, 2003

Geier C, Perrot A, Ozcelik C, Binner P, Counsell D, Hoffmann K, Pilz B, Martiniak Y, Gehmlich K, van der Ven PF, Furst DO, Vornwald A, von Hodenberg E, Nürnberg P, Scheffold T, Dietz R, Osterziel KJ. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation 107: 1390-1395, 2003

Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, Karl H, Kaps R, Muller D, Vaya A, Aznar J, Ware RE, Sotelo Cruz N, Lindner TH, Herrmann H, Reis A, Sperling K. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). Nat Genet 31: 410-414, 2002

Al-Kateb H, Bähring S, Hoffmann K, Strauch K, Busjahn A, Nürnberg G, Jouma M, Bautz EKF,  Dresel HA, Luft FC. Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. Circ Res 90: 951-958, 2002

Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hübner C. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 29: 75-77, 2001

Hoffmann K, Stassen HH, Reis A. Genkartierung in Isolatpopulationen. Med Genetik 12: 428-437, 2000

Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij II, Knoers N, Cochat P, Sulakova T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M.

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Eur J Hum Genet 8: 414-422, 2000

Hoffmann K, Schott U, Erb M, Albes J, Claussen CD, Duda SH. Remote suturing for percutaneous closure of popliteal artery access. Cathet Cardiovasc Diag 43: 477-482, 1998