Publikationen

Die Publikationen des Instituts für Klinische Genetik der aktuellen Jahre finden Sie in nachfolgender Übersicht. Die Autoren unseres Instituts sind fett markiert. Bitte nutzen Sie die Direktlinks um auf spezielle Jahre zu wechseln.

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Publikationen des Jahres 2020
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome. |►| Engel C, Ahadova A, Seppälä T, Aretz S, Bigirwamungu-Bargeman M, Bläker H, Bucksch K, Büttner R, de Vos Tot Nederveen Cappel W, Endris V, Holinski-Feder E, Holzapfel S, Hüneburg R, Jacobs MAJM, Koornstra JJ, Langers AM, Lepistö A, Morak M, Möslein G, Peltomäki P, Pylvänäinen K, Rahner N, Renkonen-Sinisalo L, Schulmann K, Steinke-Lange V, Stenzinger A, Strassburg CP, van de Meeberg PC, van Kouwen M, van Leerdam M, Vangala DB, Vecht J, Verhulst ML, von Knebel Doeberitz M, Weitz J, Zachariae S, Loeffler M, Mecklin JP, Kloor M, Vasen HF; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry. |►| Gastroenterology. 2020 Jan 8. pii: S0016-5085(20)30014-7. [Epub ahead of print] |►| PMID: 31926173
Publikationen des Jahres 2019

Mutant IDH1 Differently Affects Redox State and Metabolism in Glial Cells of Normal and Tumor Origin. |►|Biedermann J, Preussler M, Conde M, Peitzsch M, Richter S, Wiedemuth R, Abou-El-Ardat K, Krüger A, Meinhardt M, Schackert G, Leenders WP, Herold-Mende C, Niclou SP, Bjerkvig R, Eisenhofer G, Temme A, Seifert M, Kunz-Schughart LA, Schröck E, Klink B. |►|Cancers (Basel). 2019 Dec 16;11(12). pii: E2028. |►| PMID: 31888244.
PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome. |►|Abdin D, Rump A, Tzschach A, Sarnow K, Schröck E, Hackmann K, Di Donato N. |►|Eur J Med Genet. 2019 Dec;62(12):103587. |►|PMID: 30472487.

Community-driven development of a modified progression-free survival ratio for precision oncology. |►| Mock A, Heilig CE, Kreutzfeldt S, Huebschmann D, Heining C, Schröck E, Brors B, Stenzinger A, Jäger D, Schlenk R, Glimm H, Fröhling S, Horak P; DKTK MASTER Network |►| ESMO Open. 2019 Nov 13;4(6):e000583 |►|PMID: 31798980

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment |►| Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K. |►| Am J Hum Genet. 2019 Nov 7;105(5):987-995. |►| PMID: 31587868

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. |►|Oziębło D, Sarosiak A, Leja ML, Budde BS, Tacikowska G, Di Donato N, Bolz HJ, Nürnberg P, Skarżyński H, Ołdak M. |►| J Transl Med. 2019 Oct 26;17(1):351 [Epub ahead of print] |►| PMID: 31655630

Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis. |►| Yang X, Bayat V, DiDonato N, Zhao Y, Zarnegar B, Siprashvili Z, Lopez-Pajares V, Sun T, Tao S, Li C, Rump A, Khavari P, Lu B. |►| Hum Mol Genet. 2019 Oct 19. pii: ddz251.  [Epub ahead of print] |►| PMID: 31628467.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. |►|Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG. |►|Am J Hum Genet. 2019 Oct 3;105(4):844-853. |►|PMID: 31585108
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. |►| Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Faust U, Felbor U, Feroce I, Fine M, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Pérez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB. |►| Hum Mutat. 2019 Sep;40(9):1557-1578. |►|PMID: 31131967.

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women. |►|Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C.|►|BMC Cancer. 2019 Aug 8;19(1):787. |►|PMID: 31395037.
Controlling distinct signaling states in cultured cancer cells provides a new platform for drug discovery. |►| Poser SW, Otto O, Arps-Forker C, Ge Y, Herbig M, Andree C, Gruetzmann K, Adasme MF, Stodolak S, Nikolakopoulou P, Park DM, Mcintyre A, Lesche M, Dahl A, Lennig P, Bornstein SR, Schroeck E, Klink B, Leker RR, Bickle M, Chrousos GP, Schroeder M, Cannistraci CV, Guck J, Androutsellis-Theotokis A. |►| FASEB J. 2019 Aug;33(8):9235-9249|►|PMID: 31145643.

Synergistic Highly Potent Targeted Drug Combinations in different Pheochromocytoma Models including Human Tumor Cultures. |►| Fankhauser M, Bechmann N, Lauseker M, Goncalves J, Favier J, Klink B, William D, Gieldon L, Maurer J, Spöttl G, Rank P, Knösel T, Orth M, Ziegler CG, Aristizabal Prada ET, Rubinstein G, Fassnacht M, Spitzweg C, Grossman AB, Pacak K, Beuschlein F, Bornstein SR, Eisenhofer G, Auernhammer CJ, Reincke M, Nölting S. |►| Endocrinology. 2019 Nov 1;160(11):2600-2617. |►| PMID: 31322702.

Genetics of intellectual disability in consanguineous families. |►| Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H. |►| Mol Psychiatry. 2019 Jul;24(7):1027-1039. |►| PMID: 29302074.
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.|►|Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk ØL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla ØL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K.|►| Am J Hum Genet. 2019 Jul 3;105(1):213-220. |►| PMID: 31230721.

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches. |►| Gieldon L, William D, Hackmann K, Jahn W, Jahn A, Wagner J, Rump A, Bechmann N, Nölting S, Knösel T, Gudziol V, Constantinescu G, Masjkur J, Beuschlein F, Timmers HJ, Canu L, Pacak K, Robledo M, Aust D, Schröck E, Eisenhofer G, Richter S, Klink B.|►| Cancers (Basel). 2019 Jun 11;11(6). pii: E809. |►| PMID: 31212687.
The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: high frequency of FANCM pathogenic variants. |►| Schubert S, van Luttikhuizen JL, Auber B, Schmidt G, Hofmann W, Penkert J, Davenport CF, Hille-Betz U, Wendeburg L, Bublitz J, Tauscher M, Hackmann K, Schroeck E, Scholz C, Wallaschek H, Schlegelberger B, Illig T, Steinemann D.|►| Int J Cancer. 2019 Jun 1;144(11):2683-2694.  |►| PMID: 30426508.

DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs. |►|Hoff K, Lemme M, Kahlert AK, Runde K, Audain E, Schuster D, Scheewe J, Attmann T, Pickardt T, Caliebe A, Siebert R, Kramer HH, Milting H, Hansen A, Ammerpohl O, Hitz MP. |►|Clin Epigenetics. 2019 Jun 11;11(1):89. |►| PMID: 31186048.

Parental mosaicism in epilepsies due to alleged de novo variants. |►|Møller RS, Liebmann N, Larsen LHG, Stiller M, Hentschel J, Kako N, Abdin D, Di Donato N, Pal DK, Zacher P, Syrbe S, Dahl HA, Lemke JR.|►|Epilepsia. 2019 Jun;60(6):e63-e66. |►| PMID: 31077350.

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. |►|Park J, Koko M, Hedrich UBS, Hermann A, Cremer K, Haberlandt E, Grimmel M, Alhaddad B, Beck-Woedl S, Harrer M, Karall D, Kingelhoefer L, Tzschach A, Matthies LC, Strom TM, Ringelstein EB, Sturm M, Engels H, Wolff M, Lerche H, Haack TB. |►| Ann Clin Transl Neurol. 2019 Jul;6(7):1319-1326. |►|PMID: 31353862.

Deep sequencing of a recurrent oligodendroglioma and the derived xenografts reveals new insights into the evolution of human oligodendroglioma and candidate driver genes.|►| Exner ND, Valenzuela JAC, Abou-El-Ardat K, Miletic H, Huszthy PC, Radehaus PM, Schröck E, Bjerkvig R, Kaderali L, Klink B, Nigro JM.|►| Oncotarget. 2019 Jun 4;10(38):3641-3653. |►| PMID: 31217899.

Homozygous deletion of the entire AAAS gene in a triple A syndrome patient. |►| Koehler K, Hackmann K, Landgraf D, Schubert T, Shakiba M, Kariminejad A, Huebner A. |►| Eur J Med Genet. 2019 Jul;62(7):103665. |►| PMID: 31071487.
High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer. |►| Bick U, Engel C, Krug B, Heindel W, Fallenberg EM, Rhiem K, Maintz D, Golatta M, Speiser D, Rjosk-Dendorfer D, Lämmer-Skarke I, Dietzel F, Schäfer KWF, Leinert E, Weigel S, Sauer S, Pertschy S, Hofmockel T, Hagert-Winkler A, Kast K, Quante A, Meindl A, Kiechle M, Loeffler M, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). |►|  Breast Cancer Res Treat. 2019 May;175(1):217-228. |►| PMID: 30725383
Detection of a multi-lineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome. |►|Ulrich M, Tinschert S, Siebert E, Franke I, Tüting T, Ulrich J, Schanze D, Wieland I, Zenker M.|►| Pigment Cell Melanoma Res. 2019 May;32(3):470-473. |►| PMID: 30548225.
The CD98 heavy chain is a marker and regulator of head and neck squamous cell carcinoma radiosensitivity.|►| Digomann D, Kurth I, Tyutyunnykova A, Chen O, Löck S, Gorodetska I, Peitzsch C, Skvortsova I, Negro G, Aschenbrenner B, Eisenhofer G, Richter S, Heiden S, Porrmann J, Klink B, Schwager C, Dowle AA, Hein L, Kunz-Schughart LA, Abdollahi A, Lohaus F, Krause M, Baumann M, Linge A, Dubrovska A. |►| Clin Cancer Res. 2019 May 15;25(10):3152-3163. |►| PMID: 30670494.

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples. |►|Zakrzewski F, Gieldon L, Rump A, Seifert M, Grützmann K, Krüger A, Loos S, Zeugner S, Hackmann K, Porrmann J, Wagner J, Kast K, Wimberger P, Baretton G, Schröck E, Aust D, Klink B. |►|BMC Cancer. 2019 Apr 27;19(1):396. |►| PMID: 31029168.

Vitamin K-antagonism impairs the bone marrow microenvironment and hematopoiesis. |►|Verma D, Kumar R, S Pereira R, Karantanou C, Zanetti C, Minciacchi VR, Fulzele K, Kunz K, Hoelper S, Zia-Chahabi S, Jabagi MJ, Emmerich J, Dray-Spira R, Kuhlee F, Hackmann K, Schroeck E, Wenzel P, Müller S, Filmann N, Fontenay M, Divieti-Pajevic P, Krause DS.|►| Blood. 2019 Jul 18;134(3):227-238. 
|►| PMID: 31003999
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes. |►| Vos JR, Giepmans L, Röhl C, Geverink N, Hoogerbrugge N; ERN GENTURIS. |►|  2019 Apr;18(2):281-284. |►| PMID: 30302652.

Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.|►| Gröschel S, Hübschmann D, Raimondi F, Horak P, Warsow G, Fröhlich M, Klink B, Gieldon L, Hutter B, Kleinheinz K, Bonekamp D, Marschal O, Chudasama P, Mika J, Groth M, Uhrig S, Krämer S, Heining C, Heilig CE, Richter D, Reisinger E, Pfütze K, Eils R, Wolf S, von Kalle C, Brandts C, Scholl C, Weichert W, Richter S, Bauer S, Penzel R, Schröck E, Stenzinger A, Schlenk RF, Brors B, Russell RB, Glimm H, Schlesner M, Fröhling S. |►|Nat Commun. 2019 Apr 9;10(1):1635. |►| PMID: 30967556.
Response to Olaparib in a PALB2 Germline Mutated Prostate Cancer and Genetic Events Associated with Resistance. |►| Horak P, Weischenfeldt J, von Amsberg G, Beyer B, Schutte A, Uhrig S, Gieldon L, Klink B, Feuerbach L, Hubschmann D, Kreutzfeldt S, Heining C, Maier S, Hutter B, Penzel R, Schlesner M, Eils R, Sauter G, Stenzinger A, Brors B, Schröck E, Glimm H, Fröhling S, Schlomm T. |►| Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003657. |►| PMID: 30833416.

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S, Gieldon L, Pang Y, Peitzsch M, Huynh T, Leton R, Viana B, Ercolino T, Mangelis A, Rapizzi E, Menschikowski M, Aust D, Kroiss M, Beuschlein F, Gudziol V, Timmers HJ, Lenders J, Mannelli M, Cascon A, Pacak K, Robledo M, Eisenhofer G, Klink B. |►| Genet Med. 2019 Mar;21(3):705-71 |►| PMID: 30050099.

Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients. |►| Rizza R, Hackmann K, Paris I, Minucci A, De Leo R, Schrock E, Urbani A, Capoluongo E, Gelli G, Concolino P. |►| Mol Diagn Ther. 2019 Feb;23(1):121-126. |►| PMID: 30506513.
Human gastric cancer modelling using organoids.
Seidlitz T, Merker SR, Rothe A, Zakrzewski F, von Neubeck C, Grützmann K, Sommer U, Schweitzer C, Schölch S, Uhlemann H, Gaebler AM, Werner K, Krause M, Baretton GB, Welsch T, Koo BK, Aust DE, Klink B, Weitz J, Stange DE. |►| 2019 Feb;68(2):207-217. |►| PMID: 29703791

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. |►| Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. |►| Am J Hum Genet. 2019 Feb 7;104(2):203-212.|►| PMID: 30612693.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. |►| Biol Psychiatry. 2019 Feb 15;85(4):287-297.  |►|PMID: 29724491.

Patterns of Tumor Progression Predict Small and Tissue-Specific Tumor-Originating Niches. |►| Buder T, Deutsch A, Klink B, Voss-Böhme A. |►|Front Oncol. 2019 Jan 10;8:668. |►|PMID: 30687642.
Novel truncating PPM1D mutation in a patient with intellectual disability.
Porrmann J, Rump A, Hackmann K, Di Donato N, Kahlert AK, Wagner J, Jahn A, Eger I, Flury M, Schrock E, Tzschach A, Gieldon L. |►| Eur J Med Genet. 2019 Jan;62(1):70-72. |►| PMID: 29758292
 
Publikationen des Jahres 2018

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. |►| Alter S, Hotz A, Jahn A, Di Donato N, Schröck E, Smitka M, von der Hagen M, Schallner J, Menschikowski M, Gillitzer C, Laass MW, Fischer J, Tzschach A. |►| Am J Med Genet A. 2018 Dec;176(12):2862-2866. |►| PMID: 30561130.
No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies. |►|Engel C, Vasen HF, Seppälä T, Aretz S, Bigirwamungu-Bargeman M, de Boer SY, Bucksch K, Büttner R, Holinski-Feder E, Holzapfel S, Hüneburg R, Jacobs MAJM, Järvinen H, Kloor M, von Knebel Doeberitz M, Koornstra JJ, van Kouwen M, Langers AM, van de Meeberg PC, Morak M, Möslein G, Nagengast FM, Pylvänäinen K, Rahner N, Renkonen-Sinisalo L, Sanduleanu S, Schackert HK, Schmiegel W, Schulmann K, Steinke-Lange V, Strassburg CP, Vecht J, Verhulst ML, de Vos Tot Nederveen Cappel W, Zachariae S, Mecklin JP, Loeffler M; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry. |►| Gastroenterology. 2018 Nov;155(5):1400-1409.e2. |►| PMID: 30063918

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. |►|Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N. |►|Nat Commun. 2018 Nov 19;9(1):4930. |►| PMID: 30451859.
X-Chromosomale Intelligenzminderung |►| Tzschach, A |►| medgen. Nov 30:328-333

Patients with congenital heart defect and their families support genetic heart research. |►|Helm PC, Bauer UMM, Abdul-Khaliq H, Baumgartner H, Kramer HH, Schlensak C, Pickardt T, Kahlert AK, Hitz MP. |►| Congenit Heart Dis. 2018 Sep;13(5):685-689 |►| PMID: 30272834.

Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. |►|PLoS One. 2018 Aug 9;13(8):e0201041. |►| PMID: 30091983.

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D.|►|Breast Cancer Res. 2018 Aug 7;20(1):87.|►|PMID: 30086788.

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion.
Lenk J, Porrmann J, Smitka M, Eger I, Schröck E, Hackmann K, Herber R, Raiskup F, Tzschach A. |►| Ophthalmic Genet. 2018 Oct;39(5):645-647. |►| PMID: 30058938.

The power of the Mediator complex - expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.
Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Menzel C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM. |►| Clin Genet. 2018 Nov;94(5):450-456. |►| PMID: 30006928

Nivolumab maintenance after salvage autologous stem cell transplantation results in long term remission in multiple relapsed primary cns lymphoma.
Terziev D, Hutter B, Klink B, Stenzinger A, Stögbauer F, Glimm H, Fröhling S, Wickenhauser C, Jordan K, Hurtz HJ, Müller LP, Rüssel J, Weber T. |►| Eur J Haematol. 2018 Jul;101(1):115-118.|►| PMID: 29624748

Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. |►| Hum Mutat. 2018 Sep;39(9):1226-1237. |►| PMID: 29897170

Network-based analysis of oligodendrogliomas predicts novel cancer gene candidates within the region of the 1p/19q co-deletion.
Gladitz J, Klink B, Seifert M. |►| Acta Neuropathol Commun. 2018 Jun 11;6(1):49. |►| PMID: 29890994

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nürnberg G, Toliat M, Nürnberg P, Mürbe D, Bolz HJ. |►| Genet Med. 2018 Jun;20(6):614-621.  |►| PMID: 29309402

NRG1 Fusions in KRAS Wild-type Pancreatic Cancer.
Heining C, Horak P, Uhrig S, Codo PL, Klink B, Hutter B, Fröhlich M, Bonekamp D, Richter D, Steiger K, Penzel R, Endris V, Ehrenberg KR, Frank S, Kleinheinz K, Toprak UH, Schlesner M, Mandal R, Schulz L, Lambertz H, Fetscher S, Bitzer M, Malek NP, Horger MS, Giese NA, Strobel O, Hackert T, Springfeld C, Feuerbach L, Bergmann F, Schröck E, von Kalle C, Weichert W, Scholl C, Ball CR, Stenzinger A, Brors B, Fröhling S, Glimm H.|►| Cancer Discov. 2018 Sep;8(9):1087-1095. |►| PMID: 29802158

Pericytes/vessel-associated mural cells (VAMCs) are the major source of key epithelial-mesenchymal transition (EMT) factors SLUG and TWIST in human glioma.
Mäder L, Blank AE, Capper D, Jansong J, Baumgarten P, Wirsik NM, Zachskorn C, Ehlers J, Seifert M, Klink B, Liebner S, Niclou S, Naumann U, Harter PN, Mittelbronn M. |►| Oncotarget. 2018 May 8;9(35):24041-24053. |►| PMID: 29844871

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC.  |►| Eur J Hum Genet. 2018 Aug;26(8):1132-1142. |►| PMID: 29706637

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.|►| Genet Med. 2018 Nov;20(11):1354-1364. |►|PMID: 29671837

Comparative analysis of histologically classified oligodendrogliomas reveals characteristic molecular differences between subgroups.
Lauber C, Klink B, Seifert M. |►| BMC Cancer. 2018 Apr 10;18(1):399. |►| PMID: 29631562

Whole exome sequencing identifies mTOR and KEAP1 as potential targets for radiosensitization of HNSCC cells refractory to EGFR and β1 integrin inhibition.
Klapproth E, Dickreuter E, Zakrzewski F, Seifert M, Petzold A, Dahl A, Schröck E, Klink B, Cordes N. |►|  Oncotarget. 2018 Apr 6;9(26):18099-18114. |►| PMID: 29719593

Early stage pancreatic cancer. |►|Kahlert C, Distler M, Aust D, Gieldon L, Weitz J, Welsch T. |►|Chirurg. 2018 Apr;89(4):257-265. |►| PMID: 29264630.
Genetik der kortikalen Fehlbildungen |►| Di Donato, N |►| medgen 2018. 30:21-36

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history. |►| 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, Gehrig A, Briest S, Kast K, Riess O, Emons G, Weber BHF, Engel J, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) |►| BMC Cancer. 2018 Mar 7;18(1):265. |►| PMID: 29514593.

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.
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. |►| Cancer Med. 2018 Apr;7(4):1349-1358. |►|
PMID: 29522266.

Generation of iPSCs carrying a common LRRK2 risk allele for in vitro modeling of idiopathic Parkinson's disease.
Marrone L, Bus C, Schöndorf D, Fitzgerald JC, Kübler M, Schmid B, Reinhardt P, Reinhardt L, Deleidi M, Levin T, Meixner A, Klink B, Glatza M, Gloeckner CJ, Gasser T, Sterneckert J. |►| PLoS One. 2018 Mar 7;13(3):e0192497. |►| PMID: 29513666.

Sema3a plays a role in the pathogenesis of CHARGE syndrome.
Ufartes R, Schwenty-Lara J, Freese L, Neuhofer C, Möller J, Wehner P,  van Ravenswaaij-Arts CMA, Wong MTY, Schanze I, Tzschach A, Bartsch O,   Borchers A, Pauli S. |►| Hum Mol Genet. 2018 Apr 15;27(8):1343-1352.  |►| PMID: 29432577

Next generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of Neurofibromatosis Type 1.
Gieldon L, Masjkur JR, Richter S, Därr R, Lahera M, Aust DE, Zeugner S, Rump A, Hackmann K, Tzschach A, Januszewicz A, Prejbisz A, Eisenhofer G, Schroeck E, Robledo M, Klink B. |►| Eur J Endocrinol. 2018 Feb;178(2):K1-K9. |►|PMID: 29158289

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig 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. |►| Breast Cancer Res. 2018 Jan 24;20(1):7. |►|PMID: 29368626

Isogenic FUS-eGFP iPSC Reporter Lines Enable Quantification of FUS Stress Granule Pathology that Is Rescued by Drugs Inducing Autophagy.
Marrone L, Poser I, Casci I, Japtok J, Reinhardt P, Janosch A, Andree C, Lee HO, Moebius C, Koerner E, Reinhardt L, Cicardi ME, Hackmann K, Klink B, Poletti A, Alberti S, Bickle M, Hermann A, Pandey UB, Hyman AA, Sterneckert JL .|►| Stem Cell Reports. 2018 Feb 13;10(2):375-389. |►|PMID: 29358088

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.
Zenker M, Tinschert S, Wieland I, Schanze D, Happle R. |►| Acta Derm Venereol. 2018 Apr 27;98(5):534-535.|►| PMID: 29335739

A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another.
Gieldon L, Wagner J, Rump A. |►| Breast Cancer Res Treat. 2018 Jan;167(1):305-307. |►| PMID: 28900739

Integrative genomic and transcriptomic analysis of leiomyosarcoma.
Chudasama P, Mughal SS, Sanders MA, Hübschmann D, Chung I, Deeg KI, Wong SH, Rabe S, Hlevnjak M, Zapatka M, Ernst A, Kleinheinz K, Schlesner M, Sieverling L, Klink B, Schröck E, Hoogenboezem RM, Kasper B, Heilig CE, Egerer G, Wolf S, von Kalle C, Eils R, Stenzinger A, Weichert W, Glimm H, Gröschel S, Kopp HG, Omlor G, Lehner B, Bauer S, Schimmack S, Ulrich A, Mechtersheimer G, Rippe K, Brors B, Hutter B, Renner M, Hohenberger P, Scholl C, Fröhling S.|►| Nat Commun. 2018 Jan 10;9(1):144. |►|PMID: 29321523

CASP9 Germline Mutation in a Family with Multiple Brain Tumors.
Ronellenfitsch MW, Ji Eun O, Satomi K, Sumi K, Harter PN, Steinbach JP, Felsberg J, Capper D, Voegele C, Durand G, McKay J, Le Calvez-Kelm F, Schittenhelm J, Klink B, Mittelbronn M, Ohgaki H. |►| Brain Pathol. 2018 Jan;28(1):94-102.|►| PMID: 27935156

Publikationen des Jahres 2017

Chromosomal instability induced by increased BIRC5/Survivin levels affects tumorigenicity of glioma cells.
Conde M, Michen S, Wiedemuth R, Klink B, Schröck E, Schackert G, Temme A.|►|BMC Cancer. 2017 Dec 28;17(1):889. |►|PMID: 29282022

Early stage pancreatic cancer.
Kahlert C, Distler M, Aust D, Gieldon L, Weitz J, Welsch T.|►|Chirurg. 2017 Dec 20. |►| PMID: 29264630

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.
Schmelzer L, Smitka M, Wolf C, Lucas N, Tüngler V, Hahn G, Tzschach A, Di Donato N, Lee-Kirsch MA, von der Hagen M. |►| Eur J Paediatr Neurol. 2017 Nov 22. pii: S1090-3798(17)31719-1. |►| PMID: 29221912

BRCA1/2 missense mutations and the value of in-silico analyses.
Sadowski CE, Kohlstedt D, Meisel C, Keller K, Becker K, Mackenroth L, Rump A, Schröck E, Wimberger P, Kast K. |►| Eur J Med Genet. 2017 Nov;60(11):572-577. |►| PMID: 28807866

Pierpont syndrome: report of a new patient.
Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A. |►| Clin Dysmorphol. 2017 Oct; 26(4):205-208. |►| PMID: 28562391

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
Porrmann J, Betcheva-Krajcir E, Di Donato N, Kahlert AK, Schallner J, Rump A, Schröck E, Dobritzsch D, Roelofsen J, van Kuilenburg ABP, Tzschach A. |►| Am J Med Genet A. 2017 Oct;173(10):2736-2742 |►|
PMID: 28742244

Musculoskeletal disease in MDA5-related type I interferonopathy - a Mendelian mimic of Jaccoud's arthropathy.
de Carvalho LM, Ngoumou G, Park JW, Ehmke N, Deigendesch N, Kitabayashi N, Melki I, Souza FFL, Tzschach A, Nogueira-Barbosa MH, Ferriani V, Louzada-Junior P, Junior WM, Lourenço CM, Horn D, Kallinich T, Stenzel W, Hur S, Rice GI, Crow YJ. |►| Arthritis Rheumatol. 2017 Oct;69(10):2081-2091. |►| PMID: 28605144

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.
Concolino P, Rizza R, Hackmann K, Minucci A, Scaglione GL, De Bonis M, Costella A, Zuppi C, Schrock E, Capoluongo E. |►| Mol Diagn Ther. 2017 Oct;21(5):539-545. |►| PMID: 28620890

FOXP1-related intellectual disability syndrome: a recognisable entity.
Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. |►| J Med Genet. 2017 Sep;54(9):613-623. |►| PMID: 28735298.

Cell adhesion heterogeneity reinforces tumour cell dissemination: novel insights from a mathematical model.
Reher D, Klink B, Deutsch A, Voss-Böhme A. |►| Biol Direct. 2017 Aug 11;12(1):18. |►| PMID: 28800767

ATM Deficiency Generating Genomic Instability Sensitizes Pancreatic Ductal Adenocarcinoma Cells to Therapy-Induced DNA Damage.
Perkhofer L, Schmitt A, Romero Carrasco MC, Ihle M, Hampp S, Ruess DA, Hessmann E, Russell R, Lechel A, Azoitei N, Lin Q, Liebau S, Hohwieler M, Bohnenberger H, Lesina M, Algül H, Gieldon L, Schröck E, Gaedcke J, Wagner M, Wiesmüller L, Sipos B, Seufferlein T, Reinhardt HC, Frappart PO, Kleger A.|►| Cancer Res. 2017 Oct 15;77(20):5576-5590. |►| PubMed PMID: 28790064

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Heilmann-Heimbach S, Franke A, Lieb W, Thiele H, Altmüller J, Nürnberg P, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.|►| JAMA Oncol. 2017 Sep 1;3(9):1245-1248. |►| PubMed PMID: 28033443

Precision oncology based on omics data: The NCT Heidelberg experience.
Horak P, Klink B, Heining C, Gröschel S, Hutter B, Fröhlich M, Uhrig S, Hübschmann D, Schlesner M, Eils R, Richter D, Pfütze K, Geörg C, Meißburger B, Wolf S, Schulz A, Penzel R, Herpel E, Kirchner M, Lier A, Endris V, Singer S, Schirmacher P, Weichert W, Stenzinger A, Schlenk RF, Schröck E, Brors B, von Kalle C, Glimm H, Fröhling S. |►| Int J Cancer. 2017 Sep 1;141(5):877-886. |►| PMID: 28597939

The conjugated antimetabolite 5-FdU-ECyd and its cellular and molecular effects on platinum-sensitive vs. -resistant ovarian cancer cells in vitro.
Schott S, Wimberger P, Klink B, Grützmann K, Puppe J, Wauer US, Klotz DM, Schröck E, Kuhlmann JD.|►| Oncotarget. 2017 Aug 14;8(44):76935-76948.|►| PMID: 29100359

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-Wödl S, Schallner J, Di Donato N, Schröck E, Tzschach A. |►| Am J Med Genet A. 2017 Sep;173(9):2545-2550. |►| Epub 2017 Aug 4. |►| PMID: 28777483

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF, Bosson C, Dieterich K, Jaillard S, Odent S, Poke G, Beddow R, Digilio MC, Novelli A, Bernardini L, Pisanti MA, Mackenroth L, Hackmann K, Vogel I, Christensen R, Fokstuen S, Béna F, Amblard F, Devillard F, Vieville G, Apostolou A, Jouk PS, Guebre-Egziabher F, Sartelet H, Coutton C.|►| J Med Genet. 2017 Jul;54(7):502-510. |►| PMID: 28270404

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. |►| J Med Genet. 2017 Jul;54(7):460-470. |►| PMID: 28377535

Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome.
Concolino P, Rizza R, Hackmann K, Paris I, Minucci A, De Paolis E, Scambia G, Zuppi C, Schrock E, Capoluongo E. |►| Breast Cancer Res Treat. 2017 Jul;164(2):497-503. |►| PMID: 28488140

The contribution of homology arms to nuclease-assisted genome engineering.
Baker O, Tsurkan S, Fu J, Klink B, Rump A, Obst M, Kranz A, Schröck E, Anastassiadis K, Stewart AF. |►|Nucleic Acids Res. 2017 Jun 5. |►|PMID: 28582546

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the aetiology of autosomal recessive intellectual disability.
Musante L, Püttmann L, Kahrizi K, Garshasbi M, Hu H, Stehr H, Lipkowitz B, Otto S, Jensen LR, Tzschach A, Jamali P, Wienker T, Najmabadi H, Ropers HH, Kuss AW. |►| Hum Mutat. 2017 Jun;38(6):621-636. |►| PMID: 28236339

Lissencephaly: Expanded imaging and clinical classification.
Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB.|►| Am J Med Genet A. 2017 Jun;173(6):1473-1488. |►| PMID: 28440899

ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator.
Jahn A, Rane G, Paszkowski-Rogacz M, Sayols S, Bluhm A, Han CT, Draškovič I, Londoño-Vallejo JA, Kumar AP, Buchholz F, Butter F, Kappei D.|►| EMBO Rep. 2017 Jun;18(6):929-946. |►| PMID: 28500257

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.
Podolska A, Kobelt A, Fuchs S, Hackmann K, Rump A, Schröck E, Kutsche K, Di Donato N. |►| Am J Med Genet A. 2017 May;173(5):1334-1341. |►| PMID: 28371302

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
Meisel C, Sadowski CE, Kohlstedt D, Keller K, Stäritz F, Grübling N, Becker K, Mackenroth L, Rump A, Schröck E, Arnold N, Wimberger P,  Kast K. |►| Arch Gynecol Obstet. 2017 May;295(5):1227-1238. |►| PMID: 28324225

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.
Pinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B, Striessnig J. Hum Mol Genet. 2017 May 4. |►| PMID: 28472301

Blood RNA biomarkers in prodromal PARK4 and REM sleep behavior disorder show role of complexin-1 loss for risk of Parkinson's disease. 
Lahut S, Gispert S, Ömür Ö, Depboylu C, Seidel K, Domínguez-Bautista JA, Brehm N, Tireli H, Hackmann K, Pirkevi C, Leube B, Ries V, Reim K, Brose N, den Dunnen WF, Johnson M, Wolf Z, Schindewolf M, Schrempf W, Reetz K, Young P, Vadasz D, Frangakis AS, Schröck E, Steinmetz H, Jendrach M, Rüb U, Başak AN, Oertel W, Auburger G. |►| Dis Model Mech. 2017 May 1;10(5):619-631. |►| PMID: 28108469

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP; DDD Study, Zuberi SM. |►| Epilepsia. 2017 Apr;58(4):565-575. |►| PMID: 28166369.

Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.
Eisenhofer G, Klink B, Richter S, Lenders JW, Robledo M. |►| Clin Biochem Rev. 2017 Apr;38(2):69-100. |►|
PMID: 29332973

Structural, Functional and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Pannone L, Bocchinfuso G, Flex E, Rossi C, Baldassarre G, Lissewski C, Pantaleoni F, Consoli F, Lepri F, Magliozzi M, Anselmi M, Sorge G, Karaer K, Cuturilo G, Sartorio A, Tinschert S, Accadia M, Digilio MC, Zampino G, De Luca A, Cavé H, Zenker M, Gelb BD, Dallapiccola B, Stella L, Ferrero GB, Martinelli S, Tartaglia M. |►| Hum Mutat. 2017 Apr;38(4):451-459. |►| PubMed PMID: 28074573

Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas.
Pamporaki C, Hamplova B, Peitzsch M, Prejbisz A, Beuschlein F, Timmers HJLM, Fassnacht M, Klink B, Lodish M, Stratakis CA, Huebner A, Fliedner S, Robledo M, Sinnott RO, Januszewicz A, Pacak K, Eisenhofer G.|►| J Clin Endocrinol Metab. 2017 Apr 1;102(4):1122-1132.|►| PMID: 28324046

Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas. 
Abou-El-Ardat K, Seifert M, Becker K, Eisenreich S, Lehmann M, Hackmann K, Rump A, Meijer G, Carvalho B, Temme A, Schackert G, Schröck E, Krex D, Klink B. |►| Neuro Oncol. 2017 Apr 1;19(4):546-557. |►| PMID: 28201779

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.
Kasper BS, Dörfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C.|►| Epilepsy Behav. 2017 Apr;69:104-109. |►| PMID: 28237832

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW. |►|PLoS Genet. 2017 Mar 27;13(3):e1006683. |►|PMID: 28346496

Publikationen des Jahres 2016

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. |►| Rath M, Spiegler S, Nath N, Schwefel K, Di Donato N, Gerber J, Korenke GC, Hellenbroich Y, Hehr U, Gross S, Sure U, Zoll B, Gilberg E, Kaderali L, Felbor U. |►| Mol Genet Genomic Med. 2016 Dec 20;5(1):21-27. |►| PMID: 28116327.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. |►| Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG. |►| Neuromuscul Disord. 2016 Nov;26(11):744-748. |►| PMID: 27751653.

The molecular and phenotypic spectrum of IQSEC2-related epilepsy. |►|  Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T. |►| Epilepsia. 2016 Nov;57(11): 1858-1869. |►| PMID: 27665735.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.|►| Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN. |►| Am J Hum Genet. 2016 Oct 18.pii: S0002-9297(16)30390-1. |►| PMID: 27773430.

Janus face-like effects of Aurora B inhibition: antitumoral mode of action versus induction of aneuploid progeny. |►| Wiedemuth R, Klink B, Fujiwara M, Schröck E, Tatsuka M, Schackert G, Temme A. |►| Carcinogenesis. 2016 Oct;37(10):993-1003. |►| PMID: 27515963.

Deciphering Developmental Disorders Study., Hurles ME. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. |►| Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study., Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium., Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; |►| Nat Genet. 2016 Sep;48(9):1060-5. |►| PMID: 27479907.

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH. |►| Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A. |►| Breast Cancer Res Treat. 2016 Aug 31. |►| PMID: 27581129.

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.|►| Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavičius R, Macháčková E, Foretová L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, DiDonato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, Schröck E, Klink B. |►|
PLoS Genet. 2016 Aug 9;12(8):e1006248.|►| PMID: 27504877.

Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome. |►| Happle R, Tinschert S. |►| Br J Dermatol. 2016 Aug 3. |►| PMID: 27484736

Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration. |►| Busch A, Hoffjan S, Bergmann F, Hartung B, Jung H, Hanel D, Tzschach A, Kadar J, von Kodolitsch Y, Germer CT, Trobisch H, Strasser E, Wildenauer R. |►| Orphanet J Rare Dis. 2016 Aug 3;11(1):111. |►| PubMed PMID: 27488172

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease. |►| Becker K, Siegert S, Toliat MR, Du J, Casper R, Dolmans GH, Werker PM, Tinschert S, Franke A, Gieger C, Strauch K, Nothnagel M, Nürnberg P, Hennies HC; German Dupuytren Study Group. |►| PLoS One. 2016 Jul 28;11(7):e0158101. |►| PubMed PMID: 27467239

Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. |►|Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B, Zarghooni V, Herold N, Ditsch N, Kiechle M, Braun M, Fischer C, Dikow N, Schott S, Rahner N, Niederacher D, Fehm T, Gehrig A, Mueller-Reible C, Arnold N, Maass N, Borck G, de Gregorio N, Scholz C, Auber B, Varon-Manteeva R, Speiser D, Horvath J, Lichey N, Wimberger P, Stark S, Faust U, Weber BH, Emons G, Zachariae S, Meindl A, Schmutzler RK, Engel C; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). |►|J Med Genet. 2016 Jul;53(7):465-71 |►|PMID: 26928436.

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.|►| Beste C, Ocklenburg S, von der Hagen M, Di Donato N.|►| Brain Struct Funct. 2016 Jun;221(5):2487-91.|►| PubMed PMID: 25930014.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.|►|Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T,  Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.|►| J Exp Med. 2016 Jun 27;213(7):1163-74. |►|PMID: 27325888

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. |►| Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B. |►| Hum Mutat. 2016 Jun 15. |►|PMID: 27302555

Chromosome aberration associated with hippocampal impairment. |►|Haussmann R, Meissner G, Linn J, Hackmann K, Betcheva-Krajcir E, Tzschach A, Donix M. |►| Psychiatry Res. 2016 Jun 2;254:1-2. |►|PMID: 27285109

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. |►|Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium.; 16p11.2 Consortium., Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. |►|Mol Psychiatry. |►|2016 May 31. |►|PMID: 27240531.

Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs. |►| Laugsch M, Rostovskaya M, Velychko S, Richter C, Zimmer A, Klink B, Schröck E, Haase M, Neumann K, Thieme S, Roesler J, Brenner S, Anastassiadis K. |►| Mol Ther. 2016 Apr;24(4):812-22. |►| PubMed PMID: 26316390.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.  |►|  Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M.  |►|  Genet Med. 2016 Apr 21  |►|  PMID: 27101134

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.  |►|  Di Donato N, Kuechler A, Velgano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB.  |►|  Am J Med Genet A. 2016 May 30  |►|  PMID: 27240540

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.  |►|  Mackenroth L, Hackmann K, Klink B, Weber JS, Mayer B, Schröck E, Tzschach A.  |►|  Am J Med Genet A. 2016 Jun 3  |►|  PMID: 27255444

BOD1 Is Required for Cognitive Function in Humans and Drosophila.  |►|  Esmaeeli-Nieh S, Fenckova M, Porter IM, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Weißmann R, Behjati F, Tzschach A, Felbor U, Scherthan H, Sayfati SM, Ropers HH, Kahrizi K, Najmabadi H, Swedlow JR, Schenck A, Kuss AW.  |►|  PLoS Genet. 2016 May 11;12(5):e1006022  |►|  PMID: 27166630

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.  |►|  Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S.  |►|  Neurology. 2016 Mar 8;86(10):954-62  |►| PMID: 26865513.

An Epigenetic Reprogramming Strategy to Resensitize Radioresistant Prostate Cancer Cells.  |►|  Peitzsch C, Cojoc M, Hein L, Kurth I, Mäbert K, Trautmann F, Klink B, Schröck E, Wirth MP, Krause M, Stakhovsky EA, Telegeev GD, Novotny V, Toma M, Muders M, Baretton GB, Frame FM, Maitland NJ, Baumann M, Dubrovska A. |►| Cancer Res. 2016 May 1;76(9):2637-51. doi: 10.1158/0008-5472.CAN-15-2116. |►| PMID: 26984757.

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis. |►| Pistorius S, Klink B, Pablik J, Rump A, Aust D, Garzarolli M, Schröck E, Schackert HK. |►| Hered Cancer Clin Pract. 2016 May 10;14:11 |►| PMID: 27168869.

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. |►| Gburek-Augustat J, Beck-Woedl S, Tzschach A, Bauer P, Schoening M, Riess A. |►| Eur J Paediatr Neurol. 2016 Apr 28. pii: S1090-3798(16)30008-3. doi: 10.1016/j.ejpn.2016.04.005. |►| PMID: 27184330.

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. |►| Mackenroth L, Rump A, Lorenz P, Schröck E, Tzschach A. |►| Clin Dysmorphol. 2016 Apr 7. |►| PMID: 27057656.

Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs.  |►|  Laugsch M, Rostovskaya M, Velychko S, Richter C, Zimmer A, Klink B, Schröck E, Haase M, Neumann K, Thieme S, Roesler J, Brenner S, Anastassiadis K.  |►|  Mol Ther. 2016 Apr;24(4):812-22. doi: 10.1038/mt.2015.154. Epub 2015 Aug 28. |►| PMID: 26316390

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure. |►| Dehmel M, Brenner S, Suttorp M, Hahn G, Schützle H, Dinger J, Di Donato N, Mackenroth L, von der Hagen M.  |►| Neuropediatrics. 2016 Jun;47(3):182-6. doi: 10.1055/s-0036-1578799. Epub 2016 Mar 7. |►| PMID: 26951492

An unusual phenotype of MEN1 syndrome with a SI-NEN associated with a deletion of the MEN1 gene. |►| Manoharan J, Lopez CL, Hackmann K, Albers MB, Pehl A, Kann PH, Slater EP, Schröck E, Bartsch DK.
|►| Endocrinol Diabetes Metab Case Rep. 2016;2016:160011. doi: 10.1530/EDM-16-0011. Epub 2016 Mar 2.
|►| PMID: 27076911

Directed evolution of a recombinase that excises the provirus of most HIV-1 primary isolates with high specificity. |►| Karpinski J, Hauber I, Chemnitz J, Schäfer C, Paszkowski-Rogacz M, Chakraborty D, Beschorner N, Hofmann-Sieber H, Lange UC, Grundhoff A, Hackmann K, Schrock E, Abi-Ghanem J, Pisabarro MT, Surendranath V, Schambach A, Lindner C, van Lunzen J, Hauber J, Buchholz F. |►| Nat Biotechnol. 2016 Apr;34(4):401-9. doi: 10.1038/nbt.3467. Epub 2016 Feb 22. |►| PMID: 26900663

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.  |►|  Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A.  |►|  J Med Genet. 2016 Feb 3. pii: jmedgenet-2015-103511. |►| PMID: 26843489.

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. |►| Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D. |►| Am J Med Genet A. 2016 Apr;170(4):1080-5. doi: 10.1002/ajmg.a.37547. Epub 2016 Jan 22. |►| PMID:26799614

Spatially Resolved Genome-wide Transcriptional Profiling Identifies BMP Signaling as Essential Regulator of Zebrafish Cardiomyocyte Regeneration.  |►| Wu CC, Kruse F, Vasudevarao MD, Junker JP, Zebrowski DC, Fischer K, Noël ES, Grün D, Berezikov E, Engel FB, van Oudenaarden A, Weidinger G, Bakkers J.  |►|  Dev Cell. 2016 Jan 11;36(1):36-49. |►| PMID: 26748692

Publikationen des Jahres 2015

Comparative transcriptomics reveals similarities and differences between astrocytoma grades.
|►|  Seifert M, Garbe M, Friedrich B, Mittelbronn M, Klink B.  |►|  BMC Cancer. 2015 Dec 16;15(1):952. |►| PMID: 26673168

Epigenetic mutation of the succinate dehydrogenase C promoter in a patient with two paragangliomas.  |►|  Richter S, Klink B, Nacke B, deCubas AA, Mangelis A, Rapizzi E, Meinhardt M, Skondra C, Mannelli M, Robledo M, Menschikowski M, Eisenhofer G.  |►|  J Clin Endocrinol Metab. 2015 Dec 11:jc20153856. |►| PMID: 26652933

Model-Based Evaluation of Spontaneous Tumor Regression in Pilocytic Astrocytoma.   |►|  Buder T, Deutsch A, Klink B, Voss-Böhme A.  |►|  PLoS Comput Biol. 2015 Dec 10;11(12):e1004662. |►| PMID: 26658166

Identification and Characterisation of a Novel Constitutional PIK3CA Mutation in a Child lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum" (PROS).  |►|  Donato ND, Rump A, Mirzaa GM, Alcantara D, Oliver A, Schrock E, Dobyns WB, O'Driscoll M.  |►|  Hum Mutat. 2015 Nov 23 |►| PMID: 26593112

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?  |►|  Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.  |►|  Am J Med Genet A. 2015 Sep 11 |►| PMID: 26358559

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.  |►|  Mackenroth L, Hackmann K, Beyer A, Schallner J, Novotna B, Klink B, Schröck E, Di Donato N.  |►|  Am J Med Genet A. 2015 Sep 3 |►| PMID: 26334553

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.   |►|  Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T.   |►|  Am J Hum Genet. 2015 Aug 6;97(2):343-52 |►| PMID: 26235985

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.  |►|  Schlegelberger B, Kreipe H, Lehmann U, Steinemann D, Ripperger T, Göhring G, Thomay K, Rump A, Di Donato N, Suttorp M.  |►|  Pediatr Blood Cancer. 2015 Aug;62(8):1481-4 |►| PMID: 25787918

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.  |►|  Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB.  |►|  Hum Mol Genet. 2015 Jul 23. pii: ddv286 |►| PMID: 26206890

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.  |►|  Kehrer M, Schäferhoff K, Bonin M, Jauch A, Bevot A, Tzschach A.  |►|  Am J Med Genet A. 2015 Jun 10 |►| PMID: 26061568

HBOC multi-gene panel testing: comparison of two sequencing centers.  |►|  Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schröck E, Bauer P, Rump A.  |►|  Breast Cancer Res Treat. 2015 Jul |►| PMID: 26022348

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient  |►|  Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson PN, Vingron M, Tinschert S, Mundlos S, Kolanczyk M.  |►|  Eur J Hum Genet. 2015 Jun;23(6):870-3 |►| PMID:25293717

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.  |►|  Beste C, Ocklenburg S, von der Hagen M, Di Donato N.  |►|  Brain Struct Funct. 2015 May 1. |►| PMID: 25930014

Congenital CLN disease in two siblings.  |►|  Meyer S, Yilmaz U, Kim YJ, Steinfeld R, Meyberg-Solomayer G, Oehl-Jaschkowitz B, Tzschach A, Gortner L, Igel J, Schofer O.  |►|  Wien Med Wochenschr. 2015 May;165(9-10):210-3 |►| PMID: 26059544

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.  |►|  Papuc SM, Hackmann K, Andrieux J, Vincent-Delorme C, Budişteanu M, Arghir A, Schrock E, Ţuţulan-Cuniţă AC, Di Donato N.  |►|  Eur J Med Genet. 2015 May;58(5):319-23 |►| PMID: 25858704

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.  |►|  Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC.  |►|  Eur J Med Genet. 2015 May;58(5):279-92 |►| PMID: 25792522

The importance of genetic susceptibility in Dupuytren's disease.  |►|  Becker K, Tinschert S, Lienert A, Bleuler PE, Staub F, Meinel A, Rößler J, Wach W, Hoffmann R, Kühnel F, Damert HG, Nick HE, Spicher R, Lenze W, Langer M, Nürnberg P, Hennies HC.  |►|  Clin Genet. 2015 May;87(5):483-7 |►| PMID: 24749973

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.  |►|  Kobus K, Hartl D, Ott CE, Osswald M, Huebner A, von der Hagen M, Emmerich D, Kühnisch J, Morreau H, Hes FJ, Mautner VF, Harder A, Tinschert S, Mundlos S, Kolanczyk M.  |►|  PLoS One. 2015 Mar 16;10(3):e0119030 |►| PMID: 25775093

Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.  |►|  Kehrer M, Liehr T, Benkert T, Singer S, Grasshoff U, Schaeferhoff K, Bonin M, Weichselbaum A, Tzschach A.  |►|  Am J Med Genet A. 2015 Mar;167A(3):653-6 |►| PMID: 25691419

Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?  |►|  Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U.  |►|  Am J Med Genet A. 2015 Mar;167A(3):553-62 |►| PMID: 25691408

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.  |►|  Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT.  |►|  Eur J Hum Genet. 2015 Mar;23(3):292-301 |►| PMID: 25052316

Next-generation sequencing in X-linked intellectual disability  |►|  Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P.  |►|  Eur J Hum Genet. 2015 Feb 4 |►| PMID: 25649377

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes  |►|  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.  |►|  Mol Psychiatry. 2015 Feb 3 |►| PMID: 25644381

Variants in CUL4B are associated with cerebral malformations  |►|  Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP.  |►|  Hum Mutat. 2015 Jan;36(1):106-17 |►| PMID: 25385192

Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies.  |►|  Rath M, Najm J, Sirb H, Kentouche K, Dufke A, Pauli S, Hackmann K, Liehr T, Hübner CA, Felbor U; Kompetenznetzwerk Hämorrhagische Diathesen Ost (KHDO).  |►|  Hamostaseologie. 2015;35 Suppl 1:S36-42. |►| PMID: 26540129

Publikationen des Jahres 2014

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.  |►|  Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP.  |►|  Nat Genet. 2014 Dec;46(12):1283-92 |►| PMID: 25344692

Validation of the Manchester scoring system for predicting BRCA1/2 mutations in 9,390 families suspected of having hereditary breast and ovarian cancer.  |►|  Kast K, Schmutzler RK, Rhiem K, Kiechle M, Fischer C, Niederacher D, Arnold N, Grimm T, Speiser D, Schlegelberger B, Varga D, Horvath J, Beer M, Briest S, Meindl A, Engel C.  |►|  Int J Cancer. 2014 Nov 15;135(10):2352-61 |►| PMID: 24700448

Universal Tre (uTre) recombinase specifically targets the majority of HIV-1 isolates.  |►|  Karpinski J, Chemnitz J, Hauber I, Abi-Ghanem J, Paszkowski-Rogacz M, Surendranath V, Chakrabort D, Hackmann K, Schröck E, Pisabarro MT, Hauber J, Buchholz F.  |►|  J Int AIDS Soc. 2014 Nov 2;17(4 Suppl 3):19706 |►| PMID: 25397454

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.  |►|  Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson PN, Vingron M, Tinschert S, Mundlos S, Kolanczyk M.  |►|  Eur J Hum Genet. 2014 Oct 8 |►| PMID: 25293717

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.  |►|  Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators.  |►|  Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):262-75 |►| PMID: 25168959

Females with de novo aberrations in PHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.  |►|  Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D.  |►|  Am J Med Genet C Semin Med Genet. 2014 Sep;166(3):290-301 |►| PMID: 25099957

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.  |►|  von der Hagen M, Pivarcsi M, Liebe J, von Bernuth H, Didonato N, Hennermann JB, Bührer C, Wieczorek D, Kaindl AM.  |►|  Dev Med Child Neurol. 2014 Aug;56(8):732-41 |►| PMID: 24617602

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases  |►|  Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT.  |►|  Eur J Hum Genet. 2014 Jul 23. |►| (PMID: 25052316)

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families  |►|  Steinke V, Holzapfel S, Loeffler M, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Pox C, Royer-Pokora B, von Knebel-Doeberitz M, Büttner R, Propping P, Engel C; German HNPCC Consortium  |►|  Int J Cancer. 2014 Jul 1;135(1):69-77 |►| PMID: 24493211

Autoregressive higher-order hidden Markov models: exploiting local chromosomal dependencies in the analysis of tumor expression profiles  |►|  Seifert M, Abou-El-Ardat K, Friedrich B, Klink B, Deutsch A.  |►|  PLoS One. 2014 Jun 23;9(6):e100295 |►| PMID: 24955771

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance  |►|  Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA  |►|  Hum Mol Genet. 2014 Jun 1;23(11):2888-900 |►| PMID: 24403048

Interstitial deletion 1p36.32 in two brothers with a distinct phenotype - Overgrowth, macrocephaly and nearly normal intellectual function  |►|  Di Donato N, Klink B, Hahn G, Schrock E, Hackmann K  |►|  Eur J Med Genet. 2014 May 23. pii: S1769-7212(14)00116-5 |►| PMID: 24862882

Survivin safeguards chromosome numbers and protects from aneuploidy independently from p53  |►|  Wiedemuth R, Klink B, Töpfer K, Schröck E, Schackert G, Tatsuka M, Temme A  |►|  Mol Cancer. 2014 May 9;13(1):107 |►| (PMID: )

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness  |►|  Eisenberger T, Di Donato N, Baig SM, Neuhaus C, Beyer A, Decker E, Mürbe D, Decker C, Bergmann C, Bolz HJ  |►|  Hum Mutat. 2014 May;35(5):565-70 |►| PMID: 24886358

Clinical phenotypes of MAGEL2 mutations and deletions  |►|  Buiting K, Di Donato N, Beygo J, Bens S, von der Hagen M, Hackmann K, Horsthemke B  |►|  Orphanet J Rare Dis. 2014 Mar 25;9:40 |►| PMID: 24661356

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors  |►|  Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U  |►|  Mol Genet Genomic Med. 2014 Mar;2(2):176-85 |►| PMID: 24661356

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes  |►|  Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, Didonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C  |►|  Clin Genet. 2014 Feb 14 |►| PMID: 24635570

MYCN and survivin cooperatively contribute to malignant transformation of fibroblasts  |►|  Hipp NI, Christner L, Wirth T, Mueller-Klieser W, Walenta S, Schröck E, Debatin KM, Beltinger C  |►|  Carcinogenesis. 2014 Feb;35(2):479-88 |►| PMID: 24130166

Distinct phenotype of PHF6 deletions in females  |►|  Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K  |►|  Eur J Med Genet. 2014 Feb;57(2-3):85-9 |►| PMID: 24380767

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1  |►|  Kühnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, Grohmann J, Kossler N, Varga P, Osswald M, Emmerich D, Tinschert S, Thielemann F, Duda G, Seifert W, El Khassawna T, Stevenson DA, Elefteriou F, Kornak U, Raum K, Fratzl P, Mundlos S, Kolanczyk M  |►|  PLoS One. 2014 Jan 21;9(1):e86115 |►| PMID: 24465906

The importance of genetic susceptibility in Dupuytren's disease  |►|  Becker K, Tinschert S, Lienert A, Bleuler PE, Staub F, Meinel A, Rößler J, Wach W, Hoffmann R, Kühnel F, Damert HG, Nick HE, Spicher R, Lenze W, Langer M, Nürnberg P, Hennies HC  |►|  Clin Genet. 2014 Apr 22 |►| PMID: 24749973

Publikation des Jahres 2013

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling  |►|  Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B  |►|  Hum Mol Genet. 2013 Dec 20;22(25):5121-35 |►| PMID: 23906836

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3  |►|  Hackmann K, Stadler A, Schallner J, Franke K, Gerlach EM, Schrock E, Rump A, Fauth C, Tinschert S, Oexle K  |►|  Am J Med Genet A. 2013 Dec;161(12):3144-9 |►| PMID: 24039006

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies  |►|  Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ   |►|  PLoS One. 2013 Nov 12;8(11):e78496 |►| PMID: 24265693

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development  |►|  Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP   |►|  Nat Genet. 2013 Nov;45(11):1300-8 |►| PMID: 24056717

Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing  |►|  Eisenreich S, Abou-El-Ardat K, Szafranski K, Campos Valenzuela JA, Rump A, Nigro JM, Bjerkvig R, Gerlach EM, Hackmann K, Schröck E, Krex D, Kaderali L, Schackert G, Platzer M, Klink B  |►|  PLoS One. 2013 Sep 27;8(9):e76623 |►| PMID: 24086756

Highly significant antiviral activity of HIV-1 LTR-specific tre-recombinase in humanized mice  |►|  Hauber I, Hofmann-Sieber H, Chemnitz J, Dubrau D, Chusainow J, Stucka R, Hartjen P, Schambach A, Ziegler P, Hackmann K, Schröck E, Schumacher U, Lindner C, Grundhoff A, Baum C, Manz MG, Buchholz F, Hauber J  |►|  PLoS Pathog. 2013 Sep;9(9):e1003587 |►| PMID: 24086129

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring  |►|  Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D  |►|  Eur J Hum Genet. 2013 Aug;21(8):887-90 |►| PMID: 23232695

Phacomatosis Pigmentokeratotica Is Caused by a Postzygotic HRAS Mutation in a Multipotent Progenitor Cell  |►|  Groesser L, Herschberger E, Sagrera A, Shwayder T, Flux K, Ehmann L, Wollenberg A, Torrelo A, Bagazgoitia L, Diaz-Ley B, Tinschert S, Oschlies I, Singer S, Mickler M, Toll A, Landthaler M, Real FX, Hafner C  |►|  J Invest Dermatol. 2013 Aug;133(8):1998-2003 |►| PMID: 23337891

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations  |►|  Di Donato N, Rump A, Koenig R, Der Kaloustian VM, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A  |►|  Eur J Hum Genet. 2013 Jun 12 |►| PMID: 23756437

Side population in human glioblastoma is non-tumorigenic and characterizes brain endothelial cells  |►|  Golebiewska A, Bougnaud S, Stieber D, Brons NH, Vallar L, Hertel F, Klink B, Schröck E, Bjerkvig R, Niclou SP  |►|  Brain. 2013 May;136(Pt 5):1462-75 |►| PMID: 23460667

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease  |►|  Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanovic R, Peco-Antic A, Mache C, Hurles ME, Joksic I, Guc-Šcekic M, Dobricic J, Brankovic-Magic M; UK10K, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C  |►|  Hum Mutat. 2013 May;34(5):714-24 |►| PMID: 23418020

A Novel Germline KIT Mutation (p.L576P) in a Family Presenting With Juvenile Onset of Multiple Gastrointestinal Stromal Tumors, Skin Hyperpigmentations, and Esophageal Stenosis  |►|  Neuhann TM, Mansmann V, Merkelbach-Bruse S, Klink B, Hellinger A, Höffkes HG, Wardelmann E, Schildhaus HU, Tinschert S  |►|  Am J Surg Pathol. 2013 Apr 16 |►| PMID: 23564750

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  |►|  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  |►|  J Med Genet. 2013 Apr 6 |►| PMID: 23564750

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome  |►|  Wieland I, Tinschert S, Zenker M  |►|  Am J Med Genet A. 2013 Apr;161(4):889-91 |►| PMID: 23436452

The histone demethylase UTX regulates stem cell migration and hematopoiesis  |►|  Thieme S, Gyárfás T, Richter C, Ozhan G, Fu J, Alexopoulou D, Muders MH, Michalk I, Jakob C, Dahl A, Klink B, Bandola J, Bachmann M, Schröck E, Buchholz F, Stewart AF, Weidinger G, Anastassiadis K, Brenner S   |►|  Blood. 2013 Mar 28;121(13):2462-73 |►| PMID: 23365460

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability   |►|  Hackmann K, Matko S, Gerlach EM, von der Hagen M, Klink B, Schrock E, Rump A, Di Donato N   |►|  Eur J Hum Genet. 2013 Jan;21(1):112-4 |►| PMID: 22669415

Erratum to: The prognostic value of IDH mutations and MGMT promoter status in secondary high-grade gliomas  |►|  Juratli TA, Kirsch M, Geiger K, Klink B, Leipnitz E, Pinzer T, Soucek S, Schrock E, Schackert G, Krex D  |►|  J Neurooncol. 2013 Jan;111(1):95 |►| PMID: 23015095

A novel, diffusely infiltrative xenograft model of human anaplastic oligodendroglioma with mutations in FUBP1, CIC, and IDH1  |►|  Klink B, Miletic H, Stieber D, Huszthy PC, Valenzuela JA, Balss J, Wang J, Schubert M, Sakariassen PØ, Sundstrøm T, Torsvik A, Aarhus M, Mahesparan R, von Deimling A, Kaderali L, Niclou SP, Schröck E, Bjerkvig R, Nigro JM  |►|  PLoS One. 2013;8(3):e59773 |►| PMID: 23527265

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