Klinik für Medizinische Genetik

Publikationen des Instituts für Humangenetik


Bick U, Engel C, Krug B, Heindel W, Fallenberg EM, Rhiem K, Maintz D, Schmutzler RK on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer (GC_HBOC): High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast cancer and ovarian cancer.
Breast Cancer Research and Treatment; online Febr. 2019;

Krege S, Eckholdt F, Richter-Unruh A, Köhler B, Leuschner I, Menzel HJ, Moss A, Schweizer K, Stein R, Werner-Rosen K, Wieacker P, Wiesemann C, Wünsch L, Richter-Appelt H: Variations of sex development; The first German interdisciplinary consensus paper.
Journal of Pediatric Urology; online Nov. 2018,
https://doi.org/10.1016/j.purol2018.10.008 im Druck3

Tewes AC, Hucke J, Römer T, Kapczuk K, Schippert C, Hillemanns P, Wieacker P, Ledig S: Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update.
Sexual Development; online 2019 Feb 9doi: 10.1159/000496819.
[Epub ahead of print]

Raabe AC, Voss R, Kummerfeld DM, Brosius J, Galiveti CR, Wolters A, Seggewiss J, Huge A, Skryabin B, Roshdestvensky TS: Ectopic expression of Snord115 in choroid plexus interferes with editing but not splicing of 5-Ht2c receptor pre-mRNA in mice.
Scientific Reports; online März 2019 12;9(1):4300. doi: 10.1038/s41598-019-39940-6


Aranda F, Udry S, Perés Wingeyer, Amshoff LC, Bogdanova N, Wieacker P, Latino LO, Markoff A, de Larrañaga G: Maternal carriers of the ANXA5 M2 haplotype are exposed to a greater risk for placenta-mediated pregnancy complications.
Journal of Assisted Reporductions and Genetics; doi: 10.1007/s10815-018-1142-4. [Epub ahead of print]

Engel C, Rhiem K, Hahnen E, Loibl S, Weber KE, Seiler S, Zachariae S, Hauke J, Wappenschmidt B, Waha A, Blümcke B, Kiechle M, Meindl A, Niederacher D, Bartram CR, Speiser D, Schlegelberger B, Arnold N, Wieacker P, Leinert E, Gehring A, Briest S, Kast K, Riess O, Emons G, Weber BHF, Engel J, Schmutzler RK, on behalf of the German Consortium für Hereditary Breast and Ovarian Cancer (GC+HBOC): Prevalence of pathogenic BRCA ½ germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
BioMed Central Cancer; 18:265. doi: 10.1186/s12885-018-4029-y.

Rogenhofer N, Nienaber LRM, Amshoff LC, Bogdanova N, Petroff D, Wieacker P, Thaler CJ, Markoff A: Assessment of M2/ANXA5 haplotype as a risk factor in couples with   placenta-mediated pregnancy complications.
Journal of Assisted Reproduction and Genetics, 35:157-163

Ledig S, Tewes AC, Hucke J, Römer T, Kapczuk K, Schippert C, Hillemanns P, Wieacker P: Array-comparative genomic hybridization analysis in patients with Müllerian fusion anomalies.
Clinical Genetics; 93:640-646

Huhtaniemi I, Hovatta O, La Marca A, Livera G, Monniaux D, Persani L, Heddar A, Jarzabek K, Laisk-Podar T, Salumets A, Tapanainen JS, Veitia RA, Visser JA, Wieacker P, Wolczynski S, Micheline Misrahi: Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.
Trends in Endocrinology & Metabolism, doi: 10.1016/j.tem.2018.03.010. [Epub ahead of print]

Ledig S, Wieacker P: Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.
Medical Genetics; 30:3-11

Weber-Lassalle N, Hauke J, Ramser J, Richter L, Groß E, Blümcke B, Gehring A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E: BRIP1 loss-of-function mutations conver high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Research; 20:7, doi: 10.1186/s13058-018-  0935-9

Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk AE, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E: Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancer Medicine; 7:1349-1358

Markoff A, Bogdanova N: The M2 haplotype of ANXA5 gene in the context of unexplained recurrent miscarriages.
Journal of Community Genetics; 9:101-102

Rebbeck TR, Friebel TM, Friedmann E, Dworniczak B, Nathanson K: Mutation spectrum in a worldwide study of 29.700 families with BRCA1 or BRCA2 mutations.
Human Mutations; 39:593-620

Becker K, van Alen S, Idelevich EA, Schleimer N, Seggewiß J. Mellmann A, Kaspar U, Peters G: Plasmid-Encoded Transferable mecB-Mediated Methicillin Resistance in Staphylococcud aureus.
Emerging Infectious Diseases; 24:242-248

Schaefer C, Mallela N, Seggewiß J, Lechtape B, Omran H, Dirksen U, Korsching E, Potratz J: Target discovery screens using pooled shRNA libraries and next-generation sequencing: A model workflow and analytical algorithm.
PloS One; Jan 31;13(1):e0191570. doi:10.1371/journal.pone.0191570. eCollection 2018

Brenker C, Schiffer C, Wagner IV, Tüttelmann F, Röpke A, Rennhack A, Kaupp UB, Strünker T: Action of steroids and plant triterpenoids on CatSper Ca2+ channels in human sperm.
Proceedings of the National Academy of Sciences; 16;115(3):E344-E346. doi: 10.1073/pnas.1717929115

Bang AK, Busch AS, Almstrup K, Gromoll J, Kliesch S, Rapert-De Meyts E, Skakkebaek NE, Juul A, Tüttelmann F, Jørgengsen N: Is the FSHR 2039A>G variant associated with susceptibility to testicular germ cell cancer?
Andrology; 6:176-183

Tüttelmann F, Ruckert C, Röpke A: Disorders of spermatogenesis: Perspectives for novel genetic diagnostics after 20 years of unchanged routine.
Medizinische Genetik; 30:12-20

Eggermann T, Ledig S, Begemann M, Elbracht M, Kurth I, Wieacker P: Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.
Molecular Genetics & Genomic Medicine; doi: 10.1002/mgg3.426. [Epub ahead of print]

Danisik H, Bogdanova N, Markoff A: Micromolar Zinc in Annexin A5 Anticoagulation as a Potential Remedy for   RPRGL3-Associated Recurrent Pregnancy Loss.
Reproduktive Sciences; doi: 10.1177/1933719118773497. [Epub ahead of print]

Schleimer N, Kaspar U, Drescher M, Seggewiß J, von Eiff C, Proctor RA, Peters G, Kriegeskorte A, Becker K: The Energy-Coupling Factor Transporter Module EcfAA’T, a Novel Candidate for the Genetic Basis of Fatty Acid-Auxotrophic Small-Colony Variants of Staphylococcus aureus.
Frontiers in Microbiology; 9:1863. doi: 10.3389/fmicb.2018.01863. eCollection 2018

Schaefer C, Mallela N, Seggewiß J, Lechtape B, Omran H, Dirksen U, Korsching E, Potratz J: Target discovery screens using pooled shRNA libraries and next-generation sequencing: A model workflow and analytical algorithm.
PLoS One; 31;13(1):e0191570. doi: 10.1371/journal.pone.0191570. eCollection 2018.

Becker K, van Alen S, Idelevich EA, Schleimer N, Seggewiß J, Mellmann A, Kaspar U, Peters G: Plasmid-Encoded Transferable mecB-Mediated Methicillin Resistance in Staphylococcus aureus.
Emerging Infectious Diseases; 24:242-248

Mayer M, Selig K, Tüttelmann F, Dinkel A, Gschwend JE, Herkommer K: Interest in, willingsness-topay for an willingness-to-recommend genetic testing for prostate cancer among affected men after radical prostatectomy.
Familial Cancer;. doi: 10.1007/s10689-018-0101-7. [Epub   ahead of print]

Pfeiffer MJ, Quaranta R, Piccini I, Fell J, Rao J, Röpke A, Seebohm G, Greber B: Cardiogenic programming of human pluripotent stem cells by dose-controlled activation of   EOMES 1.
Natur Communications; doi: 10.1038/s41467-017-02812-6

Tiefenbach M, Scheel M, Maier A, Gehlen M, Schwarz-Eywill M, Werner M, Siebers-Renelt U, Hammer M: Osteomalacia-Clinical aspects, diagnostics and treatment
Zeitschrift für Rheumatolgie; 77:703-718


Rogenhofer N, Markoff A, Wagner A, Klein HG, Petroff D, Schleussner E for the EThlG II Grpup, Thaler CJ: Lessons From the EThIGII Trial: Proper Putative Benefit Assessment of Low-Molecular-Weight Heparin Treatment in M2/ANXA5 Haplotype Carriers.
Clinical an Applied Thrombosis/Hemostasis; 1:27:38

Ang K-Ch, Kathirgamanathan S, Ch’ng ES, Lee Y-Y, Roslani A-L, Naidu B, Kumar K, Abdullah R, Abdul Kadir S-N, Mohd Yusoff N, Abdulla WZ, Bogdanova N,Wieacker P, Markoff A, Tang T-H: Genetic analysis of the M2/ANXA5 haplotype as recurrent pregnancy loss predisposition in the Malay population.
Journal of Assisted Reproduction and Genetics; 34:517-524

Andonova S, Robeva R, Vazharova R, Ledig S, Grozdanova L, Stefanova E, Bradinova I, Todorov T, Hadjidekov G,          Sirakov M, Wieacker P, Kumanov P, Savov A: New Territory           for an Old Disease: 5-Alpfa-Reductase Type 2 Deficiency    in Bulgaria.
Sexual Development; 11:21-28

Hallmann AL, Araúzo-Bravo MJ, Mavrommatis L, Ehrlich M, Röpke A, Brockhaus J, Missler M, Sterneckert J, Schöler HR, Kuhlmann T, Zaehres H, Hargus G: Astrocyte pathology in human neural stemm cell model of frontotemporal dementia caused by mutant TAU protein.
Scientific Reports; doi 10.1038/srep42991

Guala A, Spunton M, Kalantari S, Kennerknecht I, Danesino C: Neoplasia in Cri du Chat Syndrome from Italian and German Databases.
Hindawi; doi.10.1155/2017/5181624

Ang KCh, Kathirgamanathan S, Ch’ng ES, Abdullah WZ, Yosoff NM, Jahnke CHM, Schmitz R, Bogdanova N, Wieacker P, Hock Tang T, Markoff A: Elevated annexin A5 plasma levels in term pregnancies of M2/ANXA5 carriers.
Thrombosis Research; 156:87-90

Hallmann AL, Araúzo-Bravo MJ, Mavrommatis L, Ehrlich M, Röpke A, Brockhaus J, Missler M, Sterneckert J, Schöler HR, Kuhlmann T, Zaehres H, Hargus G: Astrocyte pathology in a human neural stem cell model of frontotemporal dementia caused by mutant TAU protein.
Scientific Reports,7:42991. / doi: 10.1038/srep42991.

Marczenke M, Fell J, Piccini I, Röpke A, Seebohm G, Greber B:Generatin and cardiac subtype-specific differentiation of PITX2-deficient human iPS cell lines for exploring familial atrial fibrillation.
Stem Cell Research; 21:26-28

Marczenke M, Piccini I, Mengarelli I, Fell J, Röpke A, Seebohm G, Verkerk AO, Greber B: Cardiac Subtype-Specific Modeling of Kv 1.5 Ion Channel Deficiency Using Human Pluripotent Stem Cells.
Frontiers in Physiology; 8:469 / doi:     10.3389/fphys.2017.00469. eCollection

Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, Hui S, Lemaçon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Dworniczak B: Identification of ten variants associated with risk of    estrogen-receptor-negative breast cancer.
Natur Genetics; doi: 10.1038/ng.3785. [Epub ahead of print]

Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J, McGuffog L, Soucy P, Leslie G, Rizzolo P, Navazio AS, Valentini V, Zelli V, Lee A, Amin Al Olama A, Tyrer JP, Dworniczak B: Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
Journal of Clinical Oncology; 20:2240-2250.

Okutman O, Muller J, Skory V, Garnier JM, Gaucherot A, Baert Y, Lamour V, Serdarogullari M, Gultomruk M, Röpke A, Kliesch S, Herbepin V, Aknin I, Benkhalifa M, Teletin M, Bakircioglu E, Goossens E, Charlet-Berguerand N, Bahceci M, Tüttelmann F, Viville S: A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.
Journal of Assisted Reproduction and Genetics; 34:683-694

Röpke A, Tüttelmann F (Review): MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility.
European Journal of Endocrinology; 177:R249-R259.

Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
European Radiology; 27:5080-5092

Ledig S, Tewes AC, Hucke J, Römer T, Kapczuk K, Schippert C, Hillemanns P, Wieacker P: Array-CGH Analysis in Patients with Müllerian Fusion Anomalies.
Clinical Genetic; doi: 10.1111/cge.13160. [Epub ahead of print]

Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, aivre L, Thauvin-Robinet C, Thevenon J: Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
Journal of Medical Genetics; 54:830-835

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP: Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
American Journal of Medical Genetics A; doi: 10.1002/ajmg.a.38267. [Epub ahead of print]

Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ: Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Molecular Genetics & Genomic Medicine; 5:531-552.

Gross-Thebing T, Yigit S, Pfeiffer J, Reichman-Fried M, Bandemer J, Ruckert C, Rathmer C, Goudarzi M, Stehling M, Tarbastevich K, Seggewiss J, Raz E: The Vertebrae Protein Dead End Maintains Primordial Germ Cell Fate by Inhibiting Somatic Differentiation.
Developmental Cell; 43:704-715

Ruland C, Berlandi J, Eikmeier K, Weinert T, Lin FJ, Ambree O, Seggewiss J, Paulus W, Jeibmann A: Decreased Cerebral Irp-1B Limits Impact of Social Isolation in Wildtype and Alzheimer’s Disease Modelled in Drosophila melanogaster.
Genes, Brain and Behavior; doi: 10.111/gbb. 12451 (Epub ahead of print)

Spiegler V, Hensel A, Seggewiß J, Lubisch M, Liebau E: Transcriptome analysis reveals molecular anthelmintic effects of procyandidins in C. elegans.
PLoS One, 12:e0184656

Neuhaus N, Yoon J, Terwort N, Kliesch S, Seggewiss J, Huge A, Voss R, Schlatt S, Grindberg RV, Schöler HR: Single-cell gene expression analysis reveals diversity among human spermatogonia.
Molecular Human Reproduction; 23:79-90

Wagner NM, van Aaken C, Butschkau A, Bierhansl L, Kellner P, Schleusener V, Seggewiss J, Vollmar B, Nöldge-Schomburg G, Roesner JP: Procalcitonin Impairs Endothelial Cell Function and Viability.
Anesthesia & Analgesia; 124:836-845

Rehkämper J, Tewes AC, Horvath J, Scherer G, Wieacker P, Ledig S: Four Novel NR5A1 Mutations in 46,XY Gondadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localiszation.
Sexual Development; 11:248-253


Dougherty GW, Loges NT, Klinkenbusch JA, Olbrich H,  Pennekamp P, Menchen T, Raidt J, Wallmeier J, Werner  C,  Westermann C, Ruckert C, Mirra V, Hjeij R, Memari  Y,  Durbin R, Kolb-Kokocinski A, Praveen K, Kashef  MA,  Kashef S, Eghtedari F, Häffner K, Valmari P,  Baktai  G, Aviram M, Bentur L, Amirav I, Davis EE,  Katsanis N,  Brueckner M, Shaposhnykov A, Pigino G,Dworniczak B, Omran  H: DNAH11 Localization in the Proximal Region of  Respiratory Cilia Defines Distinct Outer Dynein Arm. American Journal of Respiratory Cell and Molecular  Biology; 55:213-24

Vigorito E, Kuchenbaecker KB, Beesley J, Adlard J,  Agnarsson BA, Andrulis IL, Arun BK, Barjhoux L, Belotti M,  Benitez J, Berger A, Bojesen A, Bonanni B, Brewer C,  Caldes T, Caligo MA, Campbell I, Chan SB, Claes KB, Cohn  DE, Cook J, Daly MB, Damiola F, Davidson R, Pauw Ad,  Delnatte C, Diez O, Domchek SM, Dumont M, Durda K,  Dworniczak B, …………Antoniou AC: Fine-Scale Mapping at  9p22.2 Identifies Candidate Causal Variants That Modify  Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.PLoSOne;27;11(7):e0158801.doi:10.1371/journal.pone.0158801

de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker  LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V,  Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J,  Wappenschmidt B, Becker A, Hansen TV, Behar R,  Investigators K, Niederacher D, Arnold N, Dworniczak B,  Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer  C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C,  Southey MC, van Asperen CJ, Singer CF, Sullivan J,  Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy  H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang- Claude J, Rudolph A, Radice P, Galastri L, Olson JE,  Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G,  Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J,  Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton  DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks  HD, Martins A, Goldgar DE, Spurdle AB: Combined genetic  and splicing analysis of BRCA1 c.[594-2A>C; 641A>G]  highlights the relevance of naturally occurring in-frame  transcripts for developing disease gene variant classification algorithms. Human Molecular Genetics;25:2256-2268

Zühlke C, Hellenbroich Y, Fondel S, Schöpper B, Hüning A, Busche A, Depenbusch M, Schultze-Mosgau A, von Horn K, Osterholz-Zaleski T, Griesinger G, Gillessen-Kaesbach G: Präimplantationsdiagnostik. Erfahrungen aus dem PID-Zentrum Lübeck. Medizinische Genetik;28:304-310

Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, Michailidou K, Ghoussaini  M, Kar S, Freeman A,Hopper  JL, Milne RL, Bolla MK, Wang Q, Dennis J, Agata S,  Ahmed S, Aittomäki K, Andrulis IL, Anton-Culver H,  Antonenkova NN, Arason A,  Arndt V, Arun BK, Arver B,  Bacot F, Barrowdale D, Baynes C, Beeghly-Fadiel A,  Benitez J,  Bermisheva M, Blomqvist C, Blot WJ,  Bogdanova NV, Bojesen SE,  Bonann Bi, Borresen-Dale AL,  Brand JS, Brauch H, Brennan P, Brenner H, Broeks A,  Brüning T,  Burwinke- Bl, Buys SS, Cai Q, Caldes T,  Campbell I, Carpenter J,  Chang-Claude J, Choi JY,  Claes KBM, Clarke C, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M,  De Leeneer K, Devilee P, Diez O,.Domchek SM, Doody  M,  Dorfling CM, Dörk T, dos-Santos- Silva I, Dumont M, Dwek M, Dworniczak B,  ………. Zheng W:  Identification of  independent association  signals and  putative functional  variants  for breast  cancer  risk through fine- scale  mapping of the  12p11  locus Breast Cancer Research; 18: 64, doi: 10.1186/s13058-016- 0718-0

Wanger NM, Van Aken C, Butschkau A, Kellner P, Schleusener V, Seggewiss J, Vollmar B, Nöldge-Schomburg G, Roesner JP: Procalcitonin Impairs Endothelial Cell Function an Viability. Anesthesia-Analgesia; DOI:10.1213 (Epub ahead of print)

Borgmann J, Tüttelmann F, Dworniczak B, Röpke A, Song HW, Kliesch S, Wilkinson MF, Laurentio S, Gromoll J: The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.Human Molecular Genetics; pii: ddw313 (Epub ahead of print)

Wieacker P: Heterogene Ursachen und Ausprägungen. JATROS Gynäkologie und Geburtshilfe; 4:6-7

Stahn V, Nagel I, Fischer-Huchzermeyer S, Oyen F, Schneppenheim R, Gesk St, Bohring A, Chikobava L, Young P, Gess B, Werner M, Senner V, Harder A: Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor. The American Journal of Pathology; 186:3285-3296

Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P,  Morgan T, Addor MC,  Adès LC, Bertola D, Bohring A,  Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA,  Krakow  D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I,  Wieczorek D, Wilson LC, Hennekam RCM, Sutherland-Smith AJ,  Strom TM, Wilkie AOW, Brown MA, Duncan EI, Markie DM,  Robertson SP: Mutations in MAP3K7 that Alter the Activity  of the TAK1 Signaling Complex Cause Frontometaphyseal  Dysplasia. American Journal of Human Genetics; 99:392-406 (2016)

Lau, M., Anemüller, W., Tröger, B., Fischer, J., Busche, A. Kongenitale Ichthyosiforme Erythrodermie.
Monatsschrift Kinderheilkunde (2016). doi:10.1007/s00112-016-0140-9

Bartha-Doering L, Regele S, Deuster D, Seidl R, Bogdanova N, Röpke A, Wieacker P, am Zenhoff-Dinnesen A. Intrafamilial phenotypic variability of Specific Language Impairment.
Brain & Language; 159:102-108

Rogenhofer N, Markoff A, Wagner A, Klein HG, Petroff D, Schleussner E, EThIG II Group, Thaler CJ. Lessons From the EThIGII Trial: Proper Putative Benefit Assessment of Low-Molecular-Weight Heparin Treatment in M2/ANXA5 Haplotype Carriers.
Clin Appl Thromb Hemost. 2016 Jul 14. [Epub ahead of print]

Wegner RD, Trimborn M, Stumm M, Wieacker P. Humangenetische Grundlagen für Gynäkologen.
Hrsg: De Gruyter Verlag, Berlin, Erstauflage; 31:52, Buchbeitrag

Busche A, Hehr U, Sieg P, Gillessen-Kaesbach G. Van der Woude and Popliteal Pterygium Syndromes: Broad     Intrafamilial Variabililty in a Three Generatoin Family With Mutation in IRF6.
Am J Med Genet A. 2016 Jun 10. doi: 10.1002

Waschk DE, Tewes AC, Römer T, Hucke J, Kapczuk K, Schippert C, Hillemanns P, Wieacker P, Ledig S. Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Clin Genet. 89(5):590-6

Markoff A, Kurahiashi H, Grandone E, Bogdanova N. Annexin A5 haplotype M2 is not a risk factor for recurrent spontaneous abortion in Northern Europe: is there sufficient evicence?
Reprod Biomed Online. 32(5):469-73

Esins J, Schultz J, Stemper C, Kennerknecht I, Bülthoff I. Face Perception and Test Reliabilities in Congenital Prosopagnosia in Seven Tests.
i-PERCEPTION, Januar-Februar: 1-37


Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann A-Ch, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G: Copy number variation of two separate regulatory regions upstream of SOX9 cuases isolated 46,XY of 46,XX disorder of sex development.
Journal of Medical Genetics; 52:240-247

Demetriou C, Abu-Amero S, White S, Peskett E, Markoff A, Stanier P, Moore GE, Regan L: Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion.
Reprod Biomed Online; 31(5):681-8.

Schwickert A, Weghake E, Brüggemann K, Engbers A, Brinkmann BF, Kemper B, Seggewiß J, Stock C, Ebnet K, Kiesel L, Riethmüller C, Götte M: microRNA miR-142-3p Inhibits Breast Cancer Cell Invasiveness by Synchronous Targeting of WASL, Integrin Alpha V, and Additional Cytoskeletal Elements.
PLoS One. 2015 Dec 10;10(12)

Zhang M, Schule JS, Heinick A, Piccini I, Rao J, Quaranta R, Zeuschner D, Malan D, Kim KP, Röpke A, Sasse P, Araúzo-Bravo M, Seebohm G, Schöler H, Fabritz I, Kirchhof P, Müller FU, Greber B: Universal Cardiac Induction of Human Pluripotent Stem Cells in 2D and 3D formats – Implications for In-Vitro Maturation.
Stemm Cells, 33:1456-69

Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Molecular Psychiatry, 21:133-48

Ledig S, Preisler-Adams S, Morlot S, Lier T, Wieacker P: Premature Ovarian Failure Caused by a Heterozygous Missenese Mutation in POF1B and Reciprocal Translokation 46,t(X;3)(q21.1;21.3).
Sexual Development; 9:86-90

Thean Hock T, Bogdanova N, Kai Cheen A, Kathirgamanathan S, Bin Abdulla R, Mohd Yusoff N, Zeidah Abdullah W, Syima Manaf F, Wieacker P, Markoff A: M2/ANXA5 haplotype as a predisposition factor in Malay women and couples experiencing recurrent spontaneous abortion: a pilot study.
Reproductive BioMedicine, online

Böhm M, Maier C, Küfer R, Röpke A, Vogel W, Wieland I: Genetic Variants of DICE1/INTS6 in German Prostate Cancer Families with Linkage to 13q14.
Urology International, 95:386-9

Pennekamp P, Menchen T, Dworniczak B, Hamada H: Situs inversus and ciliary abnormalities: 20 years later, what is the connection?.
Cilia; online

Zitzmann M, Bongers R, Werler S, Bogdanova N, Wistuba J, Kliesch S, Gromoll J, Tüttelmann F: Gene Expression Patterns in Relation to the Clinical Phenotype in Klinefelter Syndrome.
Journal of Clinical Endocrinology & Metabolism; doi: 10.1210/jc.2014-2780

Laursen RJ, Tüttelmann F, Humaidan P, Elbæk HO, Alsbjerg B, Röpke A: Azoospermia and ring chromosome 9-a case report.
Journal of Assisted Reproduction and Genetics; 32:293-296 (2015)

Tewes AC, Rall KK, Römer T, Hucke J, Kapczuk K, Brucker S, Wieacker P, Ledig S: Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.
Fertility and Sterility; online

Budde BS, Mizumoto S, Kogawa R, Becker Ch, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I: Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Human Genetics, online

Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko S, Kliesch S, Schlatt St, Tüttelmann F: X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men.
The New England Journal of Medicine; online

Esins J, Schultz J, Stemper C, Kennerknecht I, Wallraven C, Bülthoff I: Do congenital prosopagnosia and the other-race effect affect the same face recognition mechanisms?
Frontiers in Human Neuroscience; 9: 27 May 2015 dx.doi.org/10.3389/fnhum.2015.00294
A corrigendum on Do congenital prosopagnosia and the     other-race effect affect the same face     recognition     mechanisms? Esins, J., Schultz, J., Wallraven, C., and     Bülthoff, I. (2014).
Front. Hum. Neurosci. 8:759. doi: 10.3389/fnhum.2014.00759

Ehrlich M, Hallmann AL, Reinhard P, Araúro-Bravi MJ, Korr S, Röpke A, Psathaki OE; Ehling P, Meuth SG, Oblak AL, Murrell JR, Ghetti B, Zahres H, Schöler HR, Sterneckert J, Kuhlmann T, Hargus G: Distinct Neurodegenerative Changes in an Induced Pluripotent Stemm Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein.
Stemm Cell Reports; 5:83-96 (2015)

Lange M, Kasper K, Bohring A, Rutsch F, Kluger G, Hoffjan     S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-    Jaschkowtiz B, Graul-Neumann L, Diepold K, Schreyer I,     Bernhard MK, Müller F, Siebers-Renelt U, Beleza-Meireles     A, Uyanik G, Janssens S, Boltshauser E, Winkler J,     Schuierer G, Hehr U: 47 patients with FLNA associated     periventricular nodular heterotopia.
Orphanet Journal of Rare Diseases; 10:134, online: doi: 10.1186/s13023-015-0331-9 (2015)

Dörr H.G., Binder G, Reisch N, Gembruch U, Oppelt P.G., Wieacker P, Kratzsch J: Experts’ Opinion on the Prenatal Therapy of Congeniatl Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency – Guideline of DGKED in cooperation with DGG (S1-Level, AWMF Registry No. 174/013, July 2015), Geburtshilfe und Frauenheilkunde; 75:1232-1238 (2015)


Johnen A, Schmukle St.c, Hüttenbrink J, Kischka C, Kennerknecht I, Dobel Ch: A family at risk: Congenital prosopagnosia, poor face recognition and visuoperceptuel deficits within one family.
Neuropsychologia; 58:52-63

Tewes A-CH, Ledig S, Tüttelmann F, Kliesch S, Wieacker P: DMRT1 mutations are rarely associated with male infertility
Fertility and Sterility, 102:816-820

Richardson ME, Bleizigger A, Tüttelmann F, Gromoll J, Wilkinson MF: Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility.
Human Molecular Genetics; 23:12-23

Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I, Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A, Swe-Brca, Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J, Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P, Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S, Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P, Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Damiola F, Poppe B, Claes K, Piedmonte M, Tucker K, Backes F, Rodríguez G, Brewster W, Wakeley K, Rutherford T, Caldés T, Nevanlinna H, Aittomäki K, Rookus MA, van Os TA, van der Kolk L, de Lange JL, Meijers-Heijboer HE, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Hoogerbrugge N, Collée JM, van Deurzen CH, van der Luijt RB, Devilee P, Hebon, Olah E, Lázaro C, Teulé A, Menéndez M, Jakubowska A, Cybulski C, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Johannsson OT, Maugard C, Montagna M, Tognazzo S, Teixeira MR, Healey S, Investigators K, Olswold C, Guidugli L, Lindor N, Slager S, Szabo CI, Vijai J, Robson M, Kauff N, Zhang L, Rau-Murthy R, Fink-Retter A, Singer CF, Rappaport C, Geschwantler Kaulich D, Pfeiler G, Tea MK, Berger A, Phelan CM, Greene MH, Mai PL, Lejbkowicz F, Andrulis I, Mulligan AM, Glendon G, Toland AE, Bojesen A, Pedersen IS, Sunde L, Thomassen M, Kruse TA, Jensen UB, Friedman E, Laitman Y, Shimon SP, Simard J, Easton DF, Offit K, Couch FJ, Chenevix-Trench G, Antoniou AC, Benitez J: DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
PlOS Genetics; 10:e1004256

Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M , Bindels RJ, Hoenderop JG: New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.
European Journal of Human Genetics; 22:497-504

Saraga M, Vukojević K, Krželj V, Puretić Z, Bočina I, Durdov MG, Weber St, Dworniczak B, Ljubanović DG, Saraga-Babic M: Mechanism of cystogenesis in nephrotic kidneys: a histpathological study.
BMC Nephrology; 15:3

Rogenhofer N, Engels L, Bogdanova N, Tüttelmann F, Thaler CJ, Markov A: Lower Incidence of M2/ANXA5 Carriage in Recurrent Pregnancy Loss Patients With Elevated Lipoprotein(a) Levels.
Clincal and Applied Thrombosis/Hemostasis; 20:706-709

Krausz C, Hoefsloot L, Simoni M, Tüttelmann F: EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.
Andrology; 2:5-19

Rohayem J, Tüttelmann F, Mallidis C, Nieschlag E, Kliesch S, Zitzmann M: Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia
European Journal of Endocrinology; 170:K11-7

Tüttelmann F, Damm OS, Luetjens CM, Baldi M, Zitzmann M, Kliesch S, Nieschlag E, Gromoll J, Wistuba J, Simoni M: Intratesticular testosterone is increased in men with Klinefelter syndrome and may not be released into the bloodstream owing to altered testicular vascularization – a preliminary report
Andrology; 2:275-281

Dondorp W, De Wert G, Pennings G, Shenfield F, Devroey P, Tarlatzis B, Barri P, Diedrich K, Eichenlaub-Ritter U, Tüttelmann F, Provoost V: ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues
Human Reproduction; 29:1353-1359

Busch AS, Tüttelmann F, Zietzmann M, Kliesch S, Gromoll J: The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.
European Journal of Human Gentics; online doi: 10.1038/ejhg.2014.142

Bernemann C1, Hülsewig C, Ruckert C, Schäfer S, Blümel L, Hempel G, Götte M, Greve B, Barth PJ, Kiesel L, Liedtke C: Influence of secreted frizzled receptor protein 1 (SFRP1) on neoadjuvant chemotherapy in triple negative breast cancer does not rely on WNT signaling.
Molecular Cancer; 17;13:174. doi: 10.1186/1476-4598-13-174


Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin J, Petty J, Kiblawi Z, Zuppan C, Conkie-Rosell AM, McDonald MT, Peterson-Carmichael SL, Gaede JT; Shivanna B, Schady D, Friedlich PS, Hay SR, Palafoll IV, Siebers-Renelt S, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-ming L, Lo IFM, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RS, Hagmann C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole S, Hamvas A, Prince LS, Diderich KEM, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Weltny S, Stankiewicz P: Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain.
Human Mutation; 34:801-811 (2013)

Rosenow F, Berkemeier A, Krug U, Müller-Tidow C, Gerss J, Silling G, Groth C, Wieacker P, Bogdanova N, Mesters R, Büchner T, Kienast J, Berdel WE, Stelljes M: CD34+ lineage specific donor cell chimerism for the diagnosis and treatment of impending relapse of AML or myelodysplastic syndrome after allo-SCT.
Bone Marrow Transplantation; 48: 1070–1076; (2013)

Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M, Bartsch O, Steinberger D: Spectrum of novel mutations found in Waardenburg syndrome types 1 und 2: implications for molecular genetic diagnostics.
British Medical Journal, online (2013;3:e001917.doi10.1136)

Schoner K, Kohlhase J, Müller AM, Schramm T, Plassmann M, Schmitz R, Neesen J, Wieacker P, Rehder H: Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate and B3GALTL mutations. – Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Prenatal Diagnosis; 33:75-80 (2013)

Couch FJ…………………………………..Preisler-Adams S, on behalf of CIMBA: Genome Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk.
PLOS Genetics, 9:e1003212 (2013)

Kennerknecht I, Kischka C, Stemper C, Tobias E, Stollhoff R: Heritability of Face Recognition.
InTech-Open Access Publisher, p163-188 (2013)

Reinhardt P, Glatza M, Hemmer K, Tsytsyura Y, Thiel CS, Höing S, Moritz S, Parga JA, Wagner L, Bruder JM, Wu G, Schmid B, Röpke A, Klingauf J, Schwamborn JC, Gasser T, Schöler HR, Sterneckert J: Derivation and expansion using only small molecules of human neural progenitors for neurodegenerative disease modeling.
PLOS ONE, 8:e59252 (2013)

Mayer K, Kennerknecht I, Steinmann B: Clinical utility gene card for: Ehlers-Danlos syndrome types I – VII and variants – update 2012.
European Journal of Human Genetics, ejhg.2012.162 (2013)

Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Ying Yap T, Gardner A, Son Nguyen L, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Voit G, Shaffer LG, Rossenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM: ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity.
American Journal of Human Genetics; 92:681-395 (2013)

Böhm MRR, Tsianakas A, Merté RL, Schiller M, Spieker T, Röpke A, Bräuninger A, Grenzebach UH: Mutational Analysis of GNAQ and GNA11 to Aid Therapy Management of a Choriodal Melanoma Metastatic to the Contralateral Orbit.
JAMA Ophthalmology; 131:812-4 (2013)

Fischer C, Kuchenbäcker K, Engel C, Zachariae S, Rhiem K, Meindl A, Rahner N, Dikow N, Plendl H, Debatin I, Grimm T, Gadzicki D, Flöttmann R, Horvath J, Schröck E, Stock F, Schäfer D, Schwaab I, Kartsonaki C, Mavaddat N, Schlegelberger B, Antoniou AC, Schmutzler R, on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer: Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
Journal of Medical Genetics; 50:360-367 (2013)

Rosenow F, Berkemeier A, Krug U, Müller-Tidow C, Gerss J, Silling G, Groth C, Wieacker P, Bogdanova N, Mesters R, Büchner T, Kienast J, Berdel WE, Stelljes M: CD34+ lineage specific dono cell chimerism for the diagnosis and treatment of impending relapse of AML or myelodysplastic syndrome after allo-SCT.
Bone Marrow Transplantation; 48:1070-1076 (2013)

Kläver R, Tüttelmann F, Bleiziffer A, Haaf T, Klische S, Gromoll J: DNA methylation in spermatozoa as a prospective marker in andrology.
Andrology; 1:731-740 (2013)

Eppelmann U, Gottardo F, Wistuba J, Ehmcke J, Kossack N, Westernstroeer B, Redmann K, Wuebbeling F, Burger M, Tüttelmann F, Kliesch S, Mallidis C: Raman microspectroscopic disbrimination of TCam-2 cultures reveals the presence of two sub-populations of cells.
Cell and Tissue Research; 354:623-32 (2013)

Chianese C, Le Giacco D, Tüttelmann F, Ferlin A, Ntostis P, Vinci S, Balercia G, Ars E, Castañé, Giglio S, Forti G, Kliesch S, Krausz C: Y-Chromosome microdeletions are not associated with SHOX haploinsufficiency.
Human Reproduction; 28:3155-60 (2013)

Esins J, Schultz J, Bülthoff I, Kennerknecht I: Galactose uncovers face recognition and mental images in congenital prosopagnosia: The first case report.
Nutritional Neuroscience; 17:239-40 (2013)

Eisenberger T, Neuhaus Ch, Khan AO, Decker Ch, Preising MN, Friedburg Ch, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig ShM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Reza Ghaffari S, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung St, Schell-Apacik Ch, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ: Increasing the Yield in Targeted Next-Generation Sequencing by Implicatin CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Renital Dystrophies.
PLOS ONE; 8:11, e78496 (2013)

Wieacker P: Genetische Aspekte bei Störungen der Fertilität
Bundesgesundheitsblatt; 56:1642-1652 (2013)

Cox K, Bryce J, Jiang J, Rodie M, Snnott R, Alkhawari M, Arlt W, Audi L, Balsamo An, Bertelloni S, Cools M, Darendelilier F, Drop S. Ellaithi M, Guran T, Hiort O, Holterhus P.M., Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Faisal SA: Novel associations n disorders of sex development: findings from the I-DSD Registry.
Journal of Clincal Endocrinology & Metabolism; e348-55 (2013)


Tüttelmann F, De Gendt K, Amaral A, Giachini C, Welsh M, Blomberg Jensen M, Nurmio M, Wahlgren A, Stukenborg JB: The future of testis research is turning 6! Six years of International Network for Young Researchers in Male Fertility.
International Journal of Andrologie; 35:211-213 (2012)

Köhler B, Kleinemeier E, Lux A, Hiort O, Grüters A, Thyen U, DSD Network Working group: Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study.
Journal of Clinical Endocrinology & Metabolism; 97:577-88 (2012)

Harder A, Wesemann A, Hagel Ch, Schittenhelm J, Fischer S, Tatagiba M, Nagel Ch, Jeibmann A, Bohring A, Mautner V.F, Paulus W: Hybrid Neurofibroma/Schannoma is Overrepresented Among Schwannomatosis and Neurofibromatosis Patients.
American Journal of Surgical Pathology; 36:702-709 (2012)

Ledig S, Hiort O, Wünsch L, Wieacker P: Partial deletion of DMRT1 causes 46;XY ovotesticular disorder of sexual development.
European Journal of Endocrinology; 167:119-124 (2012)

Tüttelmann F, Laan M, Grigorova M, Punab M, Sober Sõber, Gromoll J: Combined Effects of the Variants FSHB-211G/T and FSHR2039A>G on Male Reproductive Parameters.
Journal of Clinical Endocrinology & Metabolism; 97:3639-3647 (2012)

Rogenhofer N, Engels L, Bogdanova N, Tüttelmann F, Markoff A, Christian Thaler: Paternal and maternal carriage of the annexin A5 M2 haplotype are equal risk factors for recurrent pregnancy loss: a pilot study.
Fertility and Sterility; 98:383-8 (2012)

Halimeh S, Krümpel A, Rott H, Bogdanova N, Budde U, Manner D, Faeser B, Mesters R, Nowak-Göttl U: Long-term secondary prophylaxis in children, adolescents and young adult with von Willebrand disease.
Thrombsis and Haemostasis; 105:597-604 (2012)

Schlump J.U, Stein A, Hehr U, Karen T, Möller-Hartmann C, Elcioglu N.H, Bogdanova N, Woike H.F, Lohmann D.R, Felderhoff-Mueser U, Linz A, Wieczorek D: Treacher Collins syndrome: clinical implications for the paediatrician – a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
European Journal auf Pediatrics; 171:1611-1618 (2012)

Bogdanova N, Baleva M, Kremensky I, Markoff A: The annexin A5 protective shield model revisited: inherited carriage of the M2/ANXA5 haplotype in placenta as a predisposing factor for the development of obstetric antiphospholipid antibodies.
Lupus; 21:796-798 (2012)

Hansmann T, Pliushch G, Leubner M, Kroll P, Endt D, Gehring A, Preisler-Adams S, Wieacker P, Haaf T: Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian and early-onset sporadic breast cancer.
Human Molecular Genetics; 21:4669-79 (2012)

Ledig S, Bruckner S, Barresi G, Schomburg J, Rall K, Wieacker P: Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Human Reproduction; 27:2872-5 (2012)

Mavaddat N,......., Preisler-Adams S, CIMBA: Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Cancer Epidemiol Biomarkers Prev.; 21:134-147 (2012)

Ramus SJ,......., Preisler-Adams S, (CIMBA): Ovarian Cancer Susceptibility Alleles and Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers.
Human Mutation; 33:690-702 (2012)

Antoniou AC,......., Preisler-Adams S, CIMBA: Common variants at 12p11, 12q24, 9p21, 9q31.2 and ZNF365 are associated with breast cancer risk forBRCA1 and/or BRCA2 mutation carriers.
Breast Cancer Research; online 2012

Couch FJ,......., Preisler-Adams S,Consortium of Investigators of Modifiers of BRCA1/2: Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Cancer Epidemiol Biomarkers Prev.; 21:645-657 (2012)

Jakubowska A,......., Preisler-Adams S, CIMBA: Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA 1/2 mutation carriers: results from a multicenter study.
British Journal of Cancer; 106:2016-2024 (2012)

Yoshiba S, Shiratori H, Kuo I.Y, Kawasumi A, Shinohoara K, Nonaka S, Asai Y, Sasaki G, Belo J.A, Sasaki H, Nakai J, Dworniczak B, Ehrlich B.E, Pennekamp P, Hamada H: Cilia at the Node of Mouse Embryos Sense Fluid Flow for Left-Right Determination via Pks2.
Science; 338:226-231 (2012)

Kennerknecht I, Hämmerle J.H, Blench R.M: The Peopling of Nias, from the Perspective of Oral Literature and Molecular Genetic Data.
In Crossing Borders. Selected Papers from the 13th International Conference of the European Association Southeast Asian Archaeologists; Crossing Borders; 2:3-15 (2012)

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, Hoyer J, Josef P, Röpke A, Moog U, Riess A, Thiel Ch.T, Tzschach A, Wiesener A, Wohlleber E, Zweier Ch, Ekici A.B, Zink A.M, Rump A, Meisinger Ch, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wiecker P, Riess O, Meitinger T, Reis A, Strom T: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
The Lancet; 380:1674-82 (2012)

Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I,Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer: BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.
Clinical Genetics; 82:478-483 (2012)

Schüring AN, Busch AS, Bogdanova N, Gromoll J, Tüttelmann F: Effects of the FSH-ß-Subunit Promoter Polymorphism -211G?T on the Hypothalamic-Pituitary-Ovarian Axis in Normally Cycling Women Indicate a Gender-Specific Regulation of Gonadotropin Secretion.
Journal of Clinical Endocrinology & Matabolism; online November 2012

Schoner K, Kohlhase J, Müller AM, Schramm Th, Plassmann M, Schmitz R, Neesen J, Wieacker P, Rehder H: Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters’ plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Prenatal Diagnosis, online November 2012

Ding YC,.......,.Preisler-Adams S, Consortium of Investigators of Modifiers of BRCA ½ (CIMBA): A Nonsynosymous Polymorphism in IRS1 Modiefies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers.
Cancer Epidemiology, Biomarkers & Prevention, 21:1362-1370 (2012)

Saadettin S, Kaiser M, Nass M, Trau St, Roepke A, Storsberg J, Hampel Z, Paulsen F, Kalinski T: Oligophrenin-1 ( Ophn1 ) is expressed in mouse retinal vessels.
Gene Expression Patterns; 12:63-67 (2012)

Amaral A, Wahlgren A, Tüttelmann F, De Gendt K, Blomberg Jensen M, Nurmio M, Welsh M, Stukenborg JB: Minutes of the 5th meeting of the International Network for Young Researchers in Male Fertility.
Asian Journal of Andrology; online (2012)


Pelz AF, Agaimy A, Daniels M, Evert M, Schul HU, Lüders P, Müller G, Lasota J, Röpke A, Wieacker P, Miettinen M,Schneider-Stock R: Gastrointestinal stromal tumor presenting as a rectovaginal mass. Clinicopathologic and molecular-genetic characterization of a rare tumor with a literature review.Human Pathology; 42:586-593 (2011)

Schüring A, Schulte N, Kelsch R, Röpke A, Kiesel L, Götte M: Characterization of endometrial mesenchymal stem-like cells obtained by endometrial biopsy during routine diagnostics.
Fertility and Sterility, 95:423-426 (2011)

Stollhoff R, Jost J, Elze T, Kennerknecht I: Devicits in Long-Term Recognition Memory Reveal Dissociated Subtypes in Congenital Prosopagnosia.
PloS ONE; online 2011

Schneider H, Hammersen J, Preisler-Adams S, Kenneth Huttner, Wolfgang Rascher, Bohring A: Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.
Journal of Medical Genetics; 48:426-432 (2011)

Ruggieri M, Roggini M, Kennerknecht I, Agata Polizzi, Distefano A, Pavone V: Spectrum of sekeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome.
Acta Paediatrica, online (2011)

Psathaki OE, Hübner K, Sabour D, Sebastiano V, Wu G, Sugawa F, Wieacker P, Pennekamp P, Schöler HR: Ultrastructural Characterization of Mouse Embryonic Stem Cell-Derived Oocytes and Granulosa Cells.
Stem Cells and Development; online (2011)

Stollhoff R, Kennerknecht I, Elze T, Jost J: A computational model of dysfunctional facial encoding in congenital prosopagnosia.
Neural Networks; 24:652-664 (2011)

Köhler B, Biebermann H, Friedsam V, Gellermann J, Maier RF, Pohl M, Wieacker P, Hiort O, Grüters A, Krude H: Analysis oft he Wilms‘ Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development.
Journal of Clinical Endocrinology & Metabolism; im Druck (April 2011)

Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, Röpke A: Copy Numer Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome.
PLoSONE; 6:e19426 (April 2011)

Wieacker P: Genetische Aspekte der Fertilitätsstörungen.
Medizinische Genetik; 23:229-230 (2011)

Ledig S, Wieacker P: Genetische Ursachen der prämaturen Ovarialinsuffizienz und Ovardysgenesie.
Medizinische Genetik, 23:237-243 (2011)

Wieacker P, Preisler-Adams S: Störungen der Bildung von Sexualsteroidhormonen und Hyperandrogenämie bei der Frau.
Medizinische Genetik, 23:244-248 (2011)

Wieacker P, Ledig S: Androgeninsensitivität
Medizinische Genetik, 23:249-253 (2011)

Wieacker P, Ledig S: Störungen der männlichen Gonadendifferenzierung.
Medizinische Genetik, 23:231-236 (2011)

Wieacker P, Ledig S, Bogdanova N: Genetisch bedingte Entwicklungsstörungen der Genitalwege.
Medizinische Genetik, 23:267-270 (2011)

Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A: Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.
Journal of Medical Gentics; 48:426-432 (2011)

Tüttelmann F: Genetische Aspekte bei Spermatogenesestörungen.
Medizinische Genetik, 23:259-266 (2011)

Preisler-Adams S, Bogdanova N: Habituelle Aborte.
Medizinische Genetik, 23:271-274 (2011)

Pennekamp P, Feldner S, Seesing FJ, Psathaki OE, Schöler HR, Wieacker P, Dworniczak B: Bcar3 Is Expressed in Sertoli Cells and Germ Cells oft he Developing Testis in Mice.
Sexual Development; online (2011)

Behre HM, Tüttelmann F, Ledig S, Wieacker P: Hypogonadotroper Hypogonadismus aufgrund eines IHH oder Kallmann-Syndroms beim Mann.
Medizinische Genetik; 23:254-258 (2011)

van Oven M, Hämmerle JM, van Schoor M, Kushnick G, Pennekamp P, Zega I, Lao O, Brown L, Kennerknecht I, Kayser M: Unexpected island effects at an extreme: reduced Y-chromosome and mitochondrial DNA diversity in Nias.
Molecular Biology and Evolution; 28:1349-1361 (2011)

Ledig S, Schippert C, Strick R, Beckmann M, Oppelt PG, Wieacker P: Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
Fertil Sterility;95:1589-1594 (2011)

Dinkelacker V, Grüter M, Klaver P, Grüter T, Specht K, Weis S, Kennerknecht I, Elger C.E., Fernandez G: Congenital prosopagnosia: multistage anatomical and functional deficits in face processing circuitry.
Journal of Neurolgy; 258:770-782 (2011)


Bogdanova N, Siebers U, Kelsch R, Markoff A, Röpke A, Exeler R, Tsokas J, Wieacker P: Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Müllerian derivatives.
Human Reproduction; 25:1339-1343 (2010)

Mitter D, Delle Chiaie B, Lüdecke H.J., Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Röpke A, Ramos-Arroyo M.A, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D: Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1.
American Journal of medical genetics; 152A:1213-1221 (2010)

Abdul-Ghafar A, Bogdanova N, Lim LC, Zhao Y, Markoff A, Tien L: Ten novel Factor VIII (F8C) mutations in eighteen haemophilia A families detected in Singapore.
Haemophilia; 16:545-566 (2010)

Jakubiczka S, Schröder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P: Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal.
Sexual Development; 4:143-149 (2010)

Köhnemann St, Pennekamp P, Schmit PF, Pfeiffer H: qPCR and mtDNA SNP analysis of experimentally degraded hair samples and its application in forensic casework.
International Journal of Legal Medicine; 124:337-342 (2010)

Makarov R, Steiner B, Gucev Z, Tasic V, Wieacker P, Wieland I: The impact of CFNS-causing EFNB1 Mutations on ephrin-B1 function
BMC Medical Genetics; online (Juni 2010)

Vujic M, Heyer Ch.M., Ars E, Hopp K, Markoff A, Örndal Ch, Rudenherd B, Nasr S.H., Torres V.E, Torra R, Bogdanova N, Harris P.C.: Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifesations of ARPKD.
Journal of the American Society of Nephrology; 21:1097-1102 (2010)

Ledig S, Röpke A, Wieacker P: Copy Number Variants in Premature Ovarian Failure and Ovarian Dysgenesis.
Sexual Development; 4:225-232 (2010)

Allanson J.E, Bohring A, Dorr H.G, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz C.P, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M: The Face of Noonan Syndrom: Does Phenotype Predict Genotype
Medical Genetics; 152:1960-1966 (2010)

Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, Kuechler A, Wieacker P: Array-CGH analysis in patients with syndromic an non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci
Human Reproduction; 25:2637-2646 (2010)

Jürgensen M, Kleinemeier E, Lux A, Steensma TD, Cohen-Kettenis PT, Hiort O, Thyen U and the DSD Network Working Group (Listed in the Acknowledgements): Psychosexual Development in Children with Disorder of Sex Development (DSD) – Results from the German Clinical Evaluation Study.
Journal of Pediatric Endocrinology & Metabolism; 23:565-578 (2010)

Bashamboo A, Ledig S, Wieacker P, Achermann JC, McElreavey K: New Technolgies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD).
Sexual Development; 4:213-224 (2010)

Stollhoff R, Jost J, Elze T, Kennerknecht I: The Early Time Course of Compensatory Face Processing in Congenital Prosopagnosia.
PLoS one; online (Juli 2010)

Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser St, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B: Novel CHD7 mutation contributing to the mutation spectrum in patients with CHARGE syndrome.
European Journal of Medical Genetics; 53:280-285 (210)

Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber St, Konrad M: Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome.
Clinical Journal of the American Society of Nephrology; 5:2075-84 (2010)

Bogdanova N, Markoff A: Hereditary thrombophilic risk factors for reccurent pregnancy loss.
Journal of Community Genetics; 1:47-53 (2010)

Liu M, Shi S, Senthilnathan S, Yu J, Wu E, Bergmann C, Zerres K, Bogdanova N, Coto E, Deltas C, Pierides A, Demetriou K, Devuyst O, Gitomer B, Laakso, Lumiaho A, Lamnissou K, Magistroni R, Parfrey P, Breuning M, Peters DJM, Torra R, Winearls CHG, Torres VE, Harris PC, Paterson AD, Pei Y: Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKD.
Journal of the American Society of Nephrology; 21:1510-1520 (2010)

Markoff A, Gerdes S, Feldner S, Bogdanova N, Gerke V, Grandone E: Reduced allele specific annexin A5 mRNA levels in placentas carrying the M2/ANXA5 allele
Placenta; 31:937-940 (2010)

Wieacker P: Geschlechtsdifferenzierung und ihre Abweichungen.
Göttinger Schriften zum Medizinrecht; Band 10:1-11 (2010)

Wieacker P, Steinhard J: Pränataldiagnostik genetischer Erkrankungen.
Deutsches Ärzteblatt; 48:857-862 (2010)

Georg I, Bagheri-Fam S, Knower KC, Wieacker P, Scherer G, Harley VR: Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
Sexual Development, 4:321-325 (2010)

Lionetti E, Pavone P, Kennerknecht I, Failla G, Schepis C, de Pasquale, Pavone L, Ruggieri: Neurological Manifestations in Individuals with Pure Cutaneous or Syndromic (Ruggieri-Happle Syndrome) Phenotypes with „Cutis Tricolor“: A Study of 14 Cases.
Neuropediatrics; 41:60-65 (2010)

Mayer K, Kennerknecht I, Steinmann B: Clinical utility card for: Ehlers-Danlos syndrome types I-VII
European Journal of Human Genetics, online (2010)

Toddenroth D, Dugas M, Kennerknecht I: Sorting chromosomes as a software-based exercise.
Medical Education; 44:1127 (2010)

Krug U, Rölling Ch, Koschmieder A, Heinecke A, Sauerland M.C, Schaich M, Thiede Ch, Kramer M, Braess J, Spiekermann K, Haferlach T, Haferlach C, Koschmieder St, Rohde Ch, Serve H, Wörmann B, Hiddemann W, Ehninger G, Berdel W.E, Büchner T, Müller-Tidow C, for the German Acute Myeloid Leukaemia Cooperative Group and the Study Alliance Leukemia Investigators.
The Lancet; 376:2000-2008 (2010)


Leyle R, Béna F, Gagos S, Gehring C, Lopez G, Schninzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre, Pelet A, Lyonnet St, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin J, Florentin-Arar L, Kitsiou S, Yahya-Graison E, Costantine M, Sine P.-M, Delabar JM, Antonarakis ST.E: Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
European Journal of Human Genetics; 17:454-466 (2009)

Jenkins ZA, von Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Garcia-Miñaur, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RCM, Donnai D, Mansour S, Cormier-Daire V, Robertson StP: Germline mutations in WTX cause a sclerosing skeletal dysplasia but not predispose to tumorigenesis.
Nature Genetics; 1:95-100 (2009)

Bisping G, Wenning D, Kropff M, Gustavus D, Müller-Tidow C, Stelljes M, Munzert G, Hilberg F, Roth GJ, Stefanic M, Volpert S, Mesters RM, Berdel WE, Kienast J: Bortezomib, Dexamethasone, and Fibroblast Growth Factor Receptor 3-Specific Tyrosine Kinase Inhibitor in t(4;14) Myeloma.
Clinical Cancer Research; 15:520-531 (2009)

Romaker D, Puetz M, Teschner S, Donauer J, Geyer M, Gerke P, Rumberger B, Dworniczak B, Pennekamp P, Buchholz B, Neumann HPH, Kumar R, Gloy J, Eckardt KU, Walz G: Increased Expression of Secreted Frizzled-Related Protein 4 in Polycystic Kidneys.
Journal of the American Society of Nephrology, 20:48-46 (2009)

Yeung CH, Tüttelmann F, Bergmann M, Nordhoff V, Vorona E, Cooper TG: Coiled sperm from infertile patients: characteristics, associated factors and biological implication.
Human Reproduction; 24:1288-95 (2009)

Wieacker P: Genetic Aspects of Premature Ovarian Failure.
Journal of Reproductive Medicine and Endocrinology; 6:17-18 (2009)

Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoelzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheurer V: Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
European Journal of Human Genetics; 17:420-425 (2009)

Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Velez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stasthinko E, Potocki L, Van Allen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstadt PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Polstra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M: Clinical Spectrum of SIX3-Associated Mutations in Holoprosencephaly: Correlation between Genotype, Phenotype, and Function.
Journal of Medical Genetics; 46:389-398 (2009)

Tuettelmann F, Simoni M: Current Recommendations for Genetic Testing in Male Infertility.
European Urological Review; Touch Briefings 88-92 (2009)

Weiss FU, Simon P, Bogdanova N, Maullem S, Lerch MM: Functional characterisation of the CFTR mutations M348V and A1087P from patients with pancreatitis suggests functional interaction between CFTR monomers.
GUT; 58:733-734 (2009)

Markoff A, Gerke V, Bogdanova N: Combined homology modelling and evolutionary significance evalutation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function.
Haemophilia; 15:932-941 (2009)

Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier Ch, Leinung St, Bohring A, Mitulla B, Peter U, Froster U: New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas.
Annals of Human Genetics; 73:283-291 (2009)

Lux A, Kropf S, Kleinemeier E, Jürgensen M, Thyen U, The DSD Network Working Group: Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality.
BMC Public Health, 21;9:110 (2009)

Bohring A, Stamm Th, Spaich Ch, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Röpke A: WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes.
American Journal of Human Genetics; 85:97-105 (2009)

Kalinski T, Röpke A, Saadettin S, Kouznetsova I, Röpke M, Roessner A: Down-regulation of ephrin-A5, a gene of normal cartilage, in chondrosarcoma
Human Pathology, 40:1679-85 (2009)

Poplinski A, Wieacker P, Kliesch S, Gromoll J: Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX maleness from Klinefelter syndrome
European Journal of Endocrinology, online (2009)
European Journal of Endocrinology, 162:169-175(2010)

Simoni M, Wieacker P: Zytogenetische und molekulargenetische Untersuchungen.
Andrologie, 3. Auflage:126-130, Buchbeitrag (2009)

Behre H.M., Nieschlag E, Partsch C.J., Wieacker P, Simoni M: Störungen im Bereich des Hypothalamus und der Hypophyse. In: Andrologie, 3. Auflage, Herausgeber: Springer Verlag, 177-198, Buchbeitrag (2009)

Nieschlag E, Behre H.M., Wieacker P, Meschede D, Kamischke A, Kliesch S: Störungen im Bereich des Testes.
Andrologie, 3. Auflage:202-244, Buchbeitrag (2009)

Behre H.M., Nieschlag E, Weidner W, Wieacker P: Störungen im Bereich der ableitenden Samenwege und akzessorischen Geschlechtsdrüsen.
Andrologie, 3. Auflage:268-282, Buchbeitrag (2009)

Wieacker P, Behre H.M., Nieschlag E: Störungen im Bereich von Androgenzielorgangen.
Andrologie, 3. Auflage:326-338, Buchbeitrag (2009)

Poplinski A, Tüttelmann F, Kanber D, Horsthemke B, Gromoll J: Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1
International Journal of Andrology; online (Okt. 2009)

Tüttelmann F, Křenková, Römer S, Nestorovic AR, Ljujic M, Štambergová A, Macek M, Macek Sr. M, Nieschlag E, Gromoll J, Simoni M: A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts
International Journal of Andrology; online (Okt. 2009)

Yeung CH, Callies C, Tüttelmann F, Kliesch S, Cooper TG: Aquaporins in the human testis and spermatozoa – identification, involvement in sperm volume regulation and clinical relevance
International Journal of Andrology; online (Okt. 2009)

Schüring AN, Lutz F, Tüttelmann F, Gromoll J, Kiesel L, Götte M: Role of syndecan-3 polymorphisms in obesity and female hyperandrogenism.
Journal of Molecular Medicine; online (Okt. 2009)

Romaker D, Puetz M, Teschner S, Donauer J, Geyer M, Gerke P, Rumberger B, Dworniczak B, Pennekamp P, Buchholz B, Neumann HPH, Kumar R, Gloy J, Eckhardt KU, Walz G: Increased Expression of Secreted Frizzled-Related Protein 4 in Polycystic Kidneys.
Journal of the American Society of Nephrology; 20:48-46 (2009)

Tüttelmann F, Nieschlag E: Classification of Andrological Disorders.
Andrology, 3rd Completely Revised and Updated Edition:87-92, Buchbeitrag (2009)

Simoni M, Wieacker P: Cytogenetic and Molecular Genetic Investigations.
Andrology, 3rd Completely Revised and Updated Edition: 119-127, Buchbeitrag (2009)

Behre HM, Nieschlag, Partsch CJ, Wieacker P, Simoni M: Diseases of the Hypothalamus and the Pituitary Gland.
Andrology, 3rd Completely Revised and Updated Edition: 170-192, Buchbeitrag (2009)Nieschlag E, Behre HM, Wieacker P, Meschede D, Kamsichke A, Kliesch S: Disorders at the Testicular Level.
Andrology, 3rd Completely Revised and Updated Edition: 194-238, Buchbeitrag (2009)

Behre HM, Nieschlag E, Weidner W, Wieacker P: Diseases of the Seminal Ducts.
Andrology, 3rd Completely Revised and Updated Edition: 264-278, Buchbeitrag (2009)

Wieacker P, Behre HM, Nieschlag E: Disorders of Androgen Target Organs.
Andrology, 3rd Completely Revised and Updated Edition: 323-337, Buchbeitrag (2009)

Graeser M, Engel C, Rhiem K, Gadzicki D, Bick U, Kast K, Froster U, Schlehe B, Bechtold A, Arnold N, Preisler-Adams S, Nestle-Kraemling C, Zaino M, Loeffler M, Kiechle M, Meindl A, Varga D, Schmutzler R: Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Journal of Clinical Oncology; 27:5887-5892 (2009)

Graeser M, Bosse K, Brosig M, Engel C, Schmutzler R on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer: Association of hormone receptor status with grading, age of onset, and tumor size in BRCA1-associated breast cancer.
Virchows Archiv; 454:519-524 (2009)


Kennerknecht I, Pluempe N, Welling B: Congenital prosopagnosia – a common hereditary cognitive dysfunction in humans
Bioscience; 1:3150-3158 (2008)

Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshhan K, Wieacker P: Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
Prenatal Diagnosis; 28:42-45 (2008)

Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooly KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deissler H, Caldes T, Kämpjärvi K, Nevanlinna H, Simard J, Simard J,Beesley J, Chen X, the Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Pereira LH, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Oczelik H, OCGN, Gerdes AM, Caligo MA, Laitman Y, Kaufmann B, Milgrom R, Friedman E, The Swedish BRCA1 and BRCA2 study collaborators, Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benitez J, Hamann U, Hogervorst FB, Manders P, Ligtenberg MJ, van den Ouweland AM, The DNA-HEBON collaborators, Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu C, Eccles D, Davidson R, Douglas F, EMBRACE, Godwin AK; Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D, GEMO, Chenevix-Trench G, Easton DF, on behalf of CIMBA: Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
American Journal of Human Genetics; online (2008)

Agaimy A, Pelz AF, Wieacker P, Roessner A, Wünsch PH, Schneider-Stock R: Gastrointestinal stromal tumors of the vermiform appendix: clincopathologic, immunohistochemical, and molecular study of 2 cases with literature review
Human Pathology, 39(8):1252-7. (2008)

Ledig S, Röpke A, Haeuslr G, Hinney B, Wieacker P: BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.
Am J Obstet Gynecol, 198:84.el-5, (2008)

Wieland I, Wieacker P, Prager B: Gene symbol: EFNB1. Disease: Craniofrontal syndrome.
Human Genetics, 123:105 , (2008)

Wieland I, Bohring A, Wieacker P: Gene symbol: EFNB1. Disease: Craniofrontal syndrome.
Human Genetics, 123:105 , (2008)

Bogdanova N, Markoff A: Genetic Predispositions to Thrombophilia Associated with Recurrent Pregnancy Loss.
Journal of Reproductiove Medicine and Endocrinology; 5:101-5, (2008)

Burtey St, Riera M, Ribe É, Pennekamp P, Rance R, Luciani J, Dworniczak B, Mattei MG, Fontés M: Centrosome overduplication and mitotic instability in PKD2 transgenic lines.
Cell Biology International, 32:1193-8 (2008)

Kirsch St, Pasantes J, Wolf A, Bogdanova N, Münch N, Pennekamp P, Krawczak M, Dworniczak B, Schempp W: Chromosomal evolution of the PKD1 gene family in primates.
BMC Evolutinary Biology, 8:263 (2008)

Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry, Wieacker P, P:Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 an the cellular mosaic
European Journal of Human Genetics; 16:184-191 (2008)

Burtey St, Riera M, Ribe E, Pennekamp P, Passage E, Rance R, Dworniczak B, Fontés M: Overexpression of PKD2 in the mouse is associated with renal tobulopathy
Nephrol Dial Transplant; 23: 1157-65 (2008)

Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, Biebermann H, Schnabel D, Grüters A, Achermann JC: Five Novel Mutations in Steroidogenic Factor 1 (SF1, NR5A1) in 46,XY Patients With Severe Underandrogenization But Without Adrenal Insufficiency
Human Mutation, 29:59-64 (2008)

Bissé E, Zorn N, Preisler-Adams S, Epting Th, Sommer O, Schaeffer Ch, van Dorsselaer A, Horst J, Wieland H: Haemoglbin Hokusetsu [β52 (D3)] Asp→Gly in German families associated with inclusion body
Ann Hematol, 87:463-466 (2008)

Osorio A, Pollán M, Pita G, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Preisler-Adams S, Niederacher D, Hofmann W, Gadzicki D, Jakubowska A, Hamann U, Lubinski J, Toloczko-Grabarek A, Cybulski C, Debniak T, Llort G, Yannoukakos D, Díez O, Peissel B, Peterlongo P, Radice P, Heikkinen T, Nevanlinna H, Mai PL, Loud JT, McGuffog L, Antoniou AC and Benitez J on behalf of CIMBA: An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers.
British Journal of Cancer, 99: 974–977 (2008)

Bissé E, Schaeffer C, Hovasse A, Preisler-Adams S, Epting T, Baumstark M, Van Dorsselaer A, Horst J,  Wieland H (2008): Haemoglobin Noah Mehmet Oeztuerk (α2δ2143(H21)His→Tyr: A novel δ-chain variant in the 2,3-DPG binding site
Journal of Chromatography B, 871:55-59 (2008)

Kennerknecht I, Ho NY, Wong VCN: Prevalence of Hereditary Prosopagnsia (HPA) in Hong Kong Chinese Population
American Journal of Medical Genetics Part A, 146:2863-2870 (2008)

Kennknecht I, Pluepme N, Welling B: Congenital prosopagnosia – a common hereditary cognitive dysfunction in humans
Frontiers in Bioscience; 13:3150-3158 (2008)

Romaker D, Puetz M, Tescher S, Donauer J, Geyer M, Gerke P, Rumberger B, Dworniczak B, Pennekamp P, Buchholz B, Neumann HPH, Kumar R, Gloy J, Eckardt K.-U., Waldz G: Increased Expression of Secreted Frizzled-Related Protein 4 in Polycystic Kidneys
Journal of the American Society of Nephrology; (2008)

Tüttelmann F, Gromoll J, Kliesch S: Genetik der männlichen Infertilität
Der Urologe; 47:1561-1567 (2008)

Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos St: Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
Nature Genetics; 40:1410-1412 (2008)

Schulz S, Vollech M, Muschke P, Wieland I, Wieacker P: Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 by a paternal balanced insertion (5;7).
The Application of Clinical Genetics; 1:19-22 (2008)

Traykova-Brauch M, Schönig K, Greiner O, Miloud T, Jauch A, Bode M, Felsher DW, Glick AB, Kwiatkowski DJ, Bujard H, Horst J, von Knebel Doeberitz M, Niggli, FK, Kriz W, Gröne HJ, Koesters R: An efficient and versatile system for acute and chronic modulation of renal tubular function in trensgenic mice.
Nature Medicine; 14:979-84 (2008)


Kurnik K, Kreuz W, Horneff S, Düring Ch, Schobess R, Bidlingmaier Ch, Escuriola Ettingshausen C, Krümpel A, Bogdanova N, Nowak-Göttl U: Effects of the factor V G1691A mutation and the factor II G20210A variant on the clinical expression of severe hemophilia. A Children – results of a multicenter study
Haematologica; 92:982-985(2007)

Markoff A, Bogdanova N, Knop M, Rüffer C, Kenis H, Lux P, Reutelingsperger Ch, Todorov V, Dworniczak B, Horst J, Gerke V: Annexin A5 Interacts with Polycystin-1 and Interferes with the Polycystin-1 Stimulated Recruitment of E-cadherin into Adherens Junctions
Journal of Molecular Biology; 369:954-966 (2007)

Members of the ADPKD Gene Variant Consortium include the following: Harris P.C, Rosetti S, Peters D, Breuning M, Petri Henske E, Koizum A, Inoue S, Shimitzu Y, Thongnoppakhun W, Yenchitsomanus P-t, Deltas C, Sandford R, Torra R, Turco A.E, Jeffery St, Fontes M, Somlo St, Furu L.M, Smulder I.M, Mercier B, Ferec C, Burtey St, Pei Y, Kalaydijieva L, Bogdanova N, McCluskey M, Geon L.J, Wouters C.H, Reiterova J, Stekrova J, San Millan J.L, Aguiari G, Del Senno L: Analysis of published PKD1 gene sequence variants
Nature Genetics; 39 (Correspondence), (2007)

Todorova A, Georggieva B, Tourney I, Todorov T, Bogdanova N, Mitev V, Mueller C.R, Kremensky I, Horst J: A large deletion and novel point mutation in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients
Neurogenetics; 8:225-229 (2007)

Bogdanova N, Markoff A, Eisert R, Wermes C, Pollmann H, Todorova A, Chlystun M, Nowak-Göttl U, Horst J: Spectrum of Molecular Defects and Mutation Detection Rate in Patients With Mild and Moderate Hemophilia A
Human Mutation; 28:54-60 (2007)

Bogdanova N, Horst J, Chlystun M, Croucher P.J.P, Nebel A, Bohring A, Todorova A, Schreiber St, Gerke V, Krawaczak M, Markoff A: A common haplotype of the annexin A5 (ANXA5) gene promotor is associated with recurrent pregnancy loss Bogdanova N, Markoff A, Eisert R, Wermes C, Pollmann H, Todorova A, Chlystun M, Nowak-Göttl U, Horst J: Spectrum of Molecular Defects and Mutation Detection Rate in Patients With Mild and Moderate Hemophilia A
Human Mutation; 28:54-60 (2007)

Frank V, Ortiz Brüchle N, Mager S, Frints S.G.M, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch Ch, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C: Aberrant Splicing Is a Common Mutational Mechanism in MKS1, a Key Player in Meckel-Gruber Syndrome
Human Mutation; Mutation in Brief #967 online (2007)

Stypmann J, Engelen MA, Orwat St, Bilbilis K, Rothenburger M, Eckardt L, Haverkamp W, Horst J, Dworniczak B, Pennekamp P: Cardiovascular characterization of Pkd2+/LacZ mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD)
International Journal of Cardiology; 2:158-166 (2007

Grueter M, Grueter T, Bell V, Horst J, Laskowski W, Sperling K, Halligan PW, Ellis HD, Kennerknecht I: Hereditary prosopagnosia: the first case series.
Cortex; 43:734-749 (2007)

Dworniczak B, Skryabin B, Tchinda J, Heuck S, Seesing FJ, Metzger D, Chambon P, Horst J, Pennekamp P: Inducible Cre/loxP Recombination in the Mouse Proximal Tubule
Nephron Experimental Nephrology; 106:e11-e20 online (2007)

Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K: Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonoczphaly) Syndrome
American Journal of Human Genetics; 81:835-841 (2007)

Wieacker P: Genetische Ursachen der Infertilität und des Hypognoadismus des Mannes
Fortschritt und Fortbildung in der Medizin, Band 31:65-71, Buchbeitrag (2007)

Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P: Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
Clinical Genetics, online (2007)

Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oel-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schwierer G, Topalogla H, Aigner L, Lochmüller H, Winkler J: Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease
Neurogenetics, 72:506-516 (2007)

Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P: Dissecting the molecular mechanisms in craniofrontonalsal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic
European Journal of Human Genetics, 1-8 (2007)

Muschke P, Kölsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P: The Heterozygous LMNA Mutatin p.R471G Causes a Variable Phenotype With Features of Two Types of Familial Partial Lipodystrophy
American Journal of Medical Genetics; 143A:2810-2814 (2007)

Röpke A, Kalinski T, Kluba U, von Falkenhausen U, Wieacker PF, Röpke M:PLAG1 activation in lipoblastoma coinciding with low-level amplification of a derivative chromosome 8 with a deletion del(8)(q13q21.2)
Cytogenetic and Genome Research; 119:33-38 (2007)

Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H,Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J: Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Neurology; 69:442-447 (2007)

Wieacker P, Stratakis CA, Horvath A, Klose S, Nickel I, Muschke P: Male infertility as a component of Carney complex
Andrologia; 39:196-197 (2007)

Couch FJ, Sinilnikova O, Vierkant RA, Pankratz VS, Fredericksen ZS, Stoppa-Lyonnet D, Coupier I, Hughes D, Hardouin 

A, Berthet P, Peock S, Cook M, Baynes C, Hodgson S, Morrison PJ, Porteous ME,Jakubowska A, Lubinski J, Gronwald J, 

Spurdle AB, kConFab, Schmutzler R, Versmold B, Engel C, Meindl A, Sutter C, Horst J, Schaefer D, Offit K, Kirchoff T, Andrulis IL, Ilyushik E, Glendon G, Devilee , Vreeswijk MP, Vasen HF, Borg A, Backenhorn K, Struewing JP, Greene MH, Neuhausen SL, Rebbeck TR, Nathason K, Domchek S, Wagner T, Grber JE, Szabo C, Zikan M, Foretova L,Olson JE, Sellers TA, Lindor N, Nevanlinna H, Tommiska J, Aittomaki K, Hamann Z, Rashid MU, Torres D, Simard J, Durocher F, Guenard F, Lynch HT, Isaacs C, Weitzel J, Olopade OI, Narod S, Daly MB, Godwin AK, Tomlinson G, Easton DF, Chenevix-Trench G, Antoniu AC, Consortium of Investigators of Modifiers of BRCA ½:AURKA F311 polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA ½ study.
Cancer Epidemiol Biomarkers; 16:1416-21 (2007)

Antonion AC, Sinilnikova OM,Simard J, Léoné M, Dumont M, Neuhausen SL, Struewing JP, Stoppa-Lyonnet D, Barjhoux L. Hughes DJ, Coupier I, Belotti M, Lasset C, Bonadona V, Bignon YJ, Genetic Modifiers of Cancer Risk in BRCA ½ Mutation Carries Study (GEMO), Rebbek TR, Wagner T, Lynch HT, Domchek SM, Nathanson KL, Garber JE, Weitzel J, Narod SA, Tomlinson G, Olopade OI, Godwin A, Isaacs C, Jakubowska A, Lubinski J, Gronwald J, Górski B, Byrski T, Huzarski T, Peock S, Cook M, Baynes C, Murray A, Rogers M, Daly PA, Dorkins H, Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE), Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Niederacher D, Deissler H, German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC), Spurdl AB, Chen X, Waddell N, Cloonan N, Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), Kirchoff T, Offit K, Friedmann E, Kaufmann B, Laitman Y, Galore G, Rennert G, Lejbkowicz F, Raskin L, Andrulis IL, Ilyushik E, Ozcelik H, Devilee P, Vreeswijk MP, Greene MH, Prindiville SA, Osorio A, Benitez J, Zikan M, Szabo CI, Kilpivaara O, Nevanlinna H, Hamann U, Durocher F, Arason A, Couch FJ, Easton DF, Chenevix-Trench G, Consortium of Investigation of Modifiers of BRCA ½ (CIMBA): RAD51 153G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.
American Journal of Human Genetics; 81:1186-200 (2007)

Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P: Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients wieth craniofrontonasal syndrome.
Clinical Genetics; 72:506-516 (2007)