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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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Dieser Link führt Sie zu den Abschlussarbeiten der Absolventen am Institut für Klinische Genetik.

Publikationen des Jahres 2022

Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics. |►| Greve JN, Schwäbe FV, Pokrant T, Faix J, Di Donato N, Taft MH, Manstein DJ. |►| Eur J Cell Biol. 2022 Mar 15;101(2):151216.  [Epub ahead of print]. |►| PMID: 35313204.

Diagnostic pitfalls in patients with malformations of cortical development. |►| Fischer J, Di Donato N. |►| Eur J Paediatr Neurol. 2022 Mar;37:123-128. [Epub 2022 Feb 22]. |►| PMID: 35228169.

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD. |►| Sommer AK, Te Paske IBAW, Garcia-Pelaez J, Laner A, Holinski-Feder E, Steinke-Lange V, Peters S, Valle L, Spier I, Huntsman D; Solve-RD-GENTURIS group; Capella G, Evans G, Rump A, Schröck E, Hoischen A, Geverink N, Tischkowitz M, Matalonga L, Laurie S, Gilissen C. Steyaert W, Demidov G, Oliveira C,. de Voer RM, Hoogerbrugge N, Aretz S. |►| Eur J Med Genet. 2022 Mar 10;104475. |►| PMID: 35283344

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. |►| Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, Nielsen HR, Lee A, Yang X, McGuffog L, Parsons MT, Andrulis IL, Arnold N, Belotti M, Borg Å, Buecher B, Buys SS, Caputo SM, Chung WK, Colas C, Colonna SV, Cook J, Daly MB, de la Hoya M, de Pauw A, Delhomelle H, Eason J, Engel C, Evans DG, Faust U, Fehm TN, Fostira F, Fountzilas G, Frone M, Garcia-Barberan V, Garre P, Gauthier-Villars M, Gehrig A, Glendon G, Goldgar DE, Golmard L, Greene MH, Hahnen E, Hamann U, Hanson H, Hassan T, Hentschel J, Horvath J, Izatt L, Janavicius R, Jiao Y, John EM, Karlan BY, Kim SW, Konstantopoulou I, Kwong A, Laugé A, Lee JW, Lesueur F, Mebirouk N, Meindl A, Mouret-Fourme E, Musgrave H, Ngeow Yuen Yie J, Niederacher D, Park SK, Pedersen IS, Ramser J, Ramus SJ, Rantala J, Rashid MU, Reichl F, Ritter J, Rump A, Santamariña M, Saule C, Schmidt G, Schmutzler RK, Senter L, Shariff S, Singer CF, Southey MC, Stoppa-Lyonnet D, Sutter C, Tan Y, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Torres D, Vega A, Wagner SA, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Spurdle AB, Easton DF, Chenevix-Trench G, Ottini L, Antoniou AC. |►| J Clin Oncol. 2022 Jan 25:JCO2102112. [Epub ahead of print.] |►| PMID: 35077220.

Publikationen des Jahres 2021

Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up. |►| Strauss SJ, Frezza AM, Abecassis N, Bajpai J, Bauer S, Biagini R, Bielack S, Blay JY, Bolle S, Bonvalot S, Boukovinas I, Bovee JVMG, Boye K, Brennan B, Brodowicz T, Buonadonna A, de Álava E, Dei Tos AP, Garcia Del Muro X, Dufresne A, Eriksson M, Fagioli F, Fedenko A, Ferraresi V, Ferrari A, Gaspar N, Gasperoni S, Gelderblom H, Gouin F, Grignani G, Gronchi A, Haas R, Hassan AB, Hecker-Nolting S, Hindi N, Hohenberger P, Joensuu H, Jones RL, Jungels C, Jutte P, Kager L, Kasper B, Kawai A, Kopeckova K, Krákorová DA, Le Cesne A, Le Grange F, Legius E, Leithner A, López Pousa A, Martin-Broto J, Merimsky O, Messiou C, Miah AB, Mir O, Montemurro M, Morland B, Morosi C, Palmerini E, Pantaleo MA, Piana R, Piperno-Neumann S, Reichardt P, Rutkowski P, Safwat AA, Sangalli C, Sbaraglia M, Scheipl S, Schöffski P, Sleijfer S, Strauss D, Sundby Hall K, Trama A, Unk M, van de Sande MAJ, van der Graaf WTA, van Houdt WJ, Frebourg T, Ladenstein R, Casali PG, Stacchiotti S; ESMO Guidelines Committee, EURACAN, GENTURIS and ERN PaedCan. Electronic address: clinicalguidelines@esmo.org. |►|Ann Oncol. 2021 Dec;32(12):1520-1536. |►| PMID: 34500044

Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up(). |►| Gronchi A, Miah AB, Dei Tos AP, Abecassis N, Bajpai J, Bauer S, Biagini R, Bielack S, Blay JY, Bolle S, Bonvalot S, Boukovinas I, Bovee JVMG, Boye K, Brennan B, Brodowicz T, Buonadonna A, De Álava E, Del Muro XG, Dufresne A, Eriksson M, Fagioli F, Fedenko A, Ferraresi V, Ferrari A, Frezza AM, Gasperoni S, Gelderblom H, Gouin F, Grignani G, Haas R, Hassan AB, Hecker-Nolting S, Hindi N, Hohenberger P, Joensuu H, Jones RL, Jungels C, Jutte P, Kager L, Kasper B, Kawai A, Kopeckova K, Krákorová DA, Le Cesne A, Le Grange F, Legius E, Leithner A, Lopez-Pousa A, Martin-Broto J, Merimsky O, Messiou C, Mir O, Montemurro M, Morland B, Morosi C, Palmerini E, Pantaleo MA, Piana R, Piperno-Neumann S, Reichardt P, Rutkowski P, Safwat AA, Sangalli C, Sbaraglia M, Scheipl S, Schöffski P, Sleijfer S, Strauss D, Strauss S, Sundby Hall K, Trama A, Unk M, van de Sande MAJ, van der Graaf WTA, van Houdt WJ, Frebourg T, Casali PG, Stacchiotti S; ESMO Guidelines Committee, EURACAN and GENTURIS. Electronic address: clinicalguidelines@esmo.org.  |►|Ann Oncol. 2021 Nov;32(11):1348-1365. |►|  PMID: 34303806

Targeted Quantification of Carbon Metabolites Identifies Metabolic Progression Markers and an Undiagnosed Case of SDH-Deficient Clear Cell Renal Cell Carcinoma in a German Cohort.  |►| William D, Erdmann K, Ottemöller J, Mangelis A, Conrad C, Peitzsch M, Schröck E, Eisenhofer G, Zacharis A, Füssel S, Aust D, Klink B, Richter S.   |►| Metabolites 2021, 11(11):764.  |►| PMID: 34822422.

Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers. |►| Horak P, Heining C, Kreutzfeldt S, Hutter B, Mock A, Hullein J, Frohlich M, Uhrig S, Jahn A, Rump A, Gieldon L, Mohrmann L, Hanf D, Teleanu V, Heilig CE, Lipka DB, Allgauer M, Ruhnke L, Lassmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfutze K, Georg C, Meissburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Spiekermann K, Bitzer M, Schulze-Osthoff K, von Kalle C, Klink B, Brors B, Stenzinger A, Schrock E, Hubschmann D, Weichert W, Glimm H, Frohling S. |►| Cancer Discov. 2021 Nov; 11(11): 2780-2795 |►| PMID: 34112699.

Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.  |►|  Kratz CP, Steinke-Lange V, Spier I, Aretz S, Schröck E, Holinski-Feder E. |►| Geburtshilfe Frauenheilkd 2021 Oct 25; 82(1): 42-49 |►| PMID: 35027859

Lissencephaly: Update on diagnostics and clinical management. |►| Koenig M, Dobyns WB, Di Donato N. |►| Eur J Paediatr Neurol. 2021 Oct 7;35:147-152. |►| PMID: 34731701.

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23. |►| Burns W, Bird LM, Heron D, Keren B, Ramachandra D, Thiffault I, Del Viso F, Amudhavalli S, Engleman K, Parenti I, Kaiser FJ, Wierzba J, Riedhammer KM, Liptay S, Zadeh N, Porrmann J, Fischer A, Gößwein S, McLaughlin HM, Telegrafi A, Langley KG, Steet R, Louie RJ, Lyons MJ. |►| Am J Med Genet A. 2021 Oct;185(10):2863-2872.|►| PMID: 34050707.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. |►| Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. |►| Eur J Hum Genet. 2021 Sep;29(9):1337-1347. Epub 2021 Jun 1. Erratum in: Eur J Hum Genet. 2021 Aug 16;:|►| PMID: 34075210.

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. |►| Audain E, Wilsdon A, Breckpot J, Izarzugaza JM, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson WD, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. |►| PLoS Genet. 2021 Jul 29;17(7):e1009679. [Epub ahead of print.] |►| PMID: 34324492.

Solving unsolved rare neurological diseases-a Solve-RD viewpoint. |►| Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium.|►| Eur J Hum Genet. 2021 May 10. Epub ahead of print. Erratum in: Eur J Hum Genet. 2021 Aug 25. |►| PMID: 33972714.

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores |►| Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L; Consortium of Investigators of Modifiers of BRCA1 and BRCA2. |►| J Natl Cancer Inst. 2021 Jul 28:djab147. [Epub ahead of print.] |►|PMID: 34320204.

Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers.  |►| Borde J, Ernst C, Wappenschmidt B, Niederacher D, Weber-Lassalle K, Schmidt G, Hauke J, Quante AS, Weber-Lassalle N, Horváth J, Pohl-Rescigno E, Arnold N, Rump A, Gehrig A, Hentschel J, Faust U, Dutrannoy V, Meindl A, Kuzyakova M, Wang-Gohrke S, Weber BHF, Sutter C, Volk AE, Giannakopoulou O, Lee A, Engel C, Schmidt MK, Antoniou AC, Schmutzler RK, Kuchenbaecker K, Hahnen E.  |►| J Natl Cancer Inst. 2021 Jul 1;113(7):893-899.  |►| PMID: 33372680.

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. |►| Pirozzi F, Lee B, Horsley N, Burkardt DD, Dobyns WB, Graham JM Jr, Dentici ML, Cesario C, Schallner J, Porrmann J, Di Donato N, Sanchez-Lara PA, Mirzaa GM. |►| Am J Med Genet A. 2021 Sep; 185(9):2719-2738. |►| PMID: 34087052.

Recommendation and Acceptance of Counselling for Familial Cancer Risk in Newly Diagnosed Breast Cancer Cases. |►| Kast K, Häfner J, Schröck E, Jahn A, Werner C, Meisel C, Wimberger P. |►| Breast Care 2021. |►| doi: 10.1159/000517021

First international workshop of the ATM and cancer risk group (4-5 December 2019). Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group, Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC, Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups, Stoppa-Lyonnet D, Andrieu N. |►| Fam Cancer. 2021 Jun 14.|►|  PMID: 34125377

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. |►| Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. |►| Eur J Hum Genet. 2021 Jun 1. [Epub ahead of print]. |►| PMID: 34075208.

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report. |►| Te Paske IBAW, Garcia-Pelaez J, Sommer AK, Matalonga L, Starzynska T, Jakubowska A; Solve-RD-GENTURIS group,, van der Post RS, Lubinski J, Oliveira C, Hoogerbrugge N, de Voer RM.  |►| Eur J Hum Genet. 2021 Jun 1. [Epub ahead of print.] |►|PMID: 34075207.

Adipose Triglyceride Lipase Loss Promotes a Metabolic Switch in A549 Non-Small Cell Lung Cancer Cell Spheroids. |►| Honeder S, Tomin T, Nebel L, Gindlhuber J, Fritz-Wallace K, Schinagl M, Heininger C, Schittmayer M, Ghaffari-Tabrizi-Wizsy N, Birner-Gruenberger R. |►| Mol Cell Proteomics. 2021 May 13:100095. [Epub ahead of print]. |►| PMID: 33992777.

Response to Cabozantinib Following Acquired Entrectinib Resistance in a Patient With ETV6-NTRK3 Fusion-Positive Carcinoma Harboring the NTRK3G623R Solvent-Front Mutation. |►| Hanf D, Heining C, Laaber K, Nebelung H, Uhrig S, Hutter B, Jahn A, Richter D, Aust D, Herbst F, Fröhling S, Glimm H, Folprecht G. |►| JCO Precis Oncol. 2021 Apr 22;5:PO.20.00278. |►| PMID: 34250401.

Case Report: ANXA2 Associated Life-Threatening Coagulopathy With Hyperfibrinolysis in a Patient With Non-APL Acute Myeloid Leukemia. |►| Ruhnke L, Stölzel F, Wagenführ L, Altmann H, Platzbecker U, Herold S, Rump A, Schröck E, Bornhäuser M, Schetelig J, von Bonin M. |►| Front Oncol. 2021 Apr 15;11:666014. |►| PMID: 33937079.

Generation of iPSC lines from CPVT patient carrying heterozygous mutation p.A2254V in the ryanodine receptor 2 gene. |►| Li W, Henze S, Luo X, Ulbricht Y, Richter A, Di Donato N, Wilde AAM, Guan K. |►| Stem Cell Res. 2021 Feb 19;53:102259. [Epub ahead of print.] |►|PMID: 33640691.

Differential Effects of Trp53 Alterations in Murine Colorectal Cancer. |►| Betzler AM, Nanduri LK, Hissa B, Blickensdörfer L, Muders MH, Roy J, Jesinghaus M, Steiger K, Weichert W, Kloor M, Klink B, Schroeder M, Mazzone M, Weitz J, Reissfelder C, Rahbari NN, Schölch S. |►|  Cancers (Basel). 2021 Feb 15;13(4):808.|►| PMID: 33671932.

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. |►| Melo US, Bonner D, Kent Lloyd KC, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, de Souza Leite F, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. |►| Genet Med. 2021 Apr;23(4):661-668. |►| PMID: 33420346.

Publikationen des Jahres 2020

Patient-derived organoids and orthotopic yenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology. |►|Golebiewska A, Hau AC, Oudin A, Stieber D, Yabo YA, Baus V, Barthelemy V, Klein E, Bougnaud S, Keunen O, Wantz M, Michelucci A, Neirinckx V, Muller A, Kaoma T, Nazarov PV, Azuaje F, De Falco A, Flies B, Richart L, Poovathingal S, Arns T, Grzyb K, Mock A, Herold-Mende C, Steino A, Brown D, May P, Miletic H, Malta TM, Noushmehr H, Kwon YJ, Jahn W, Klink B, Tanner G, Stead LF, Mittelbronn M, Skupin A, Hertel F, Bjerkvig R, Niclou SP. |►| Acta Neuropathol. 2020 Dec;140(6):919-949. |►|PMID: 33009951.

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. |►|Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. |►|Neurology. 2020 Dec 15;95(24):e3163-e3179. |►|PMID: 33144514.

Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families. |►|Chang CA, Di Donato N, Hackmann K, Argiropoulos B, Ferreira P, Innes AM, Thomas MA. |►| Am J Med Genet A. 2020 Dec;182(12):3040-3047. |►|PMID: 33026187.

International consensus recommendations on the diagnostic work-up for malformations of cortical development. |►|Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N. |►| Nat Rev Neurol. 2020 Nov;16(11):618-635. |►| PMID: 32895508.

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. |►| Becker LL, Dafsari HS, Schallner J, Abdin D, Seifert M, Petit F, Smol T, Bok L, Rodan L, Krapels I, Spranger S, Weschke B, Johnson K, Straub V, Kaindl AM, Di Donato N, von der Hagen M, Cirak S. |►| J Hum Genet. 2020 Nov;65(11):1003-1017. |►| PMID: 32788638.

Comprehensive genomic characterization of gene therapy-induced T-cell acute lymphoblastic leukemia. |►|Horak P, Uhrig S, Witzel M, Gil-Farina I, Hutter B, Rath T, Gieldon L, Balasubramanian GP, Pastor X, Heilig CE, Richter D, Schröck E, Ball CR, Brors B, Braun CJ, Albert MH, Scholl C, von Kalle C, Schmidt M, Fröhling S, Klein C, Glimm H. |►|Leukemia. 2020 Oct;34(10):2785-2789. |►|PMID: 32127638.

Successful BRAF/MEK inhibition in a patient with BRAFV600E-mutated extrapancreatic acinar cell carcinoma. |►|Busch E, Kreutzfeldt S, Agaimy A, Mechtersheimer G, Horak P, Brors B, Hutter B, Fröhlich M, Uhrig S, Mayer P, Schröck E, Stenzinger A, Glimm H, Jäger D, Springfeld C, Fröhling S, Zschäbitz S. |►|Cold Spring Harb Mol Case Stud. 2020 Aug 25;6(4):a005553. |►|PMID: 32843432.

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. |►| Walsh S, Gösswein SS, Rump A, von der Hagen M, Hackmann K, Schröck E, Di Donato N, Kahlert AK. |►|Eur J Med Genet. 2020 Oct;63(10):104019. |►|PMID: 32712214.

Germline SDHB-inactivating mutation in gastric spindle cell sarcoma.|►| Heilig CE, Horak P, Lipka DB, Mock A, Uhrig S, Kreutzfeldt S, Richter S, Gieldon L, Fröhlich M, Hutter B, Hübschmann D, Teleanu V, Schmier JW, Philipzen J, Beuthien-Baumann B, Schröck E, von Deimling A, Bauer S, Heining C, Mechtersheimer G, Stenzinger A, Brors B, Wardelmann E, Glimm H, Hartmann W, Fröhling S. |►| Genes Chromosomes Cancer. 2020 Oct;59(10):601-608. |►| PMID: 32501622.

Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs. |►| Seifert M, Schackert G, Temme A, Schröck E, Deutsch A, Klink B. |►| Cancers (Basel). 2020 Jun 26;12(6):E1696 |►| PMID: 32604718.

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. |►| Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, Amor DJ, Walsh M, Sznajer Y, Weiß L, Weidensee S, Chitayat D, Shannon P, Bermejo-Sánchez E, Riaño-Galán I, Hayes I, Poke G, Rooryck C, Pennamen P, Khung-Savatovsky S, Toutain A, Vuillaume ML, Ghaderi-Sohi S, Kariminejad MH, Weinert S, Sticht H, Zenker M, Schanze D. |►|Hum Mutat. 2020 Sep;41(9):1615-1628. |►| PMID: 32579715.

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome |►| Tischkowitz M, Colas C, Pouwels S, Hoogerbrugge N; PHTS Guideline Development Group; European Reference Network GENTURIS. |►| Eur J Hum Genet. 2020 Jun 12. [Epub ahead of print.] |►| PMID: 32533092.

Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas. |►| Wallace PW, Conrad C, Brückmann S, Pang Y, Caleiras E, Murakami M, Korpershoek E, Zhuang Z, Rapizzi E, Kroiss M, Gudziol V, J L M Timmers H, Mannelli M, Pietzsch J, Beuschlein F, Pacak K, Robledo M, Klink B, Peitzsch M, Gill AJ, Tischler AS, de Krijger RR, Papathomas T, Aust D, Eisenhofer G, Richter S. |►| J Pathol. 2020 May 27. [Epub ahead of print.] |►| PMID: 32462735

Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes. |►| Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS. |►|Eur J Hum Genet. 2020 May 26. [Epub ahead of print.] |►| PMID: 32457520.

The landscape of chromothripsis across adult cancer types. |►|Voronina N, Wong JKL, Hübschmann D, Hlevnjak M, Uhrig S, Heilig CE, Horak P, Kreutzfeldt S, Mock A, Stenzinger A, Hutter B, Fröhlich M, Brors B, Jahn A, Klink B, Gieldon L, Sieverling L, Feuerbach L, Chudasama P, Beck K, Kroiss M, Heining C, Möhrmann L, Fischer A, Schröck E, Glimm H, Zapatka M, Lichter P, Fröhling S, Ernst A. |►|Nat Commun. 2020 May 8; 11(1):2320. |►|PMID: 32385320

Targetable ERBB2 mutations identified in neurofibroma/schwannoma hybrid nerve sheath tumors. |►| Ronellenfitsch MW, Harter PN, Kirchner M, Heining C, Hutter B, Gieldon L, Schittenhelm J, Schuhmann MU, Tatagiba M, Marquardt G, Wagner M, Endris V, Brandts CH, Mautner VF, Schröck E, Weichert W, Brors B, von Deimling A, Mittelbronn M, Steinbach JP, Reuss DE, Glimm H, Stenzinger A, Fröhling S.|►| J Clin Invest. 2020 May 1;130(5):2488-2495. |►|PMID: 32017710.

Metastatic adult pancreatoblastoma: Multimodal treatment and molecular characterization of a very rare disease. |►|Berger AK, Mughal SS, Allgäuer M, Springfeld C, Hackert T, Weber TF, Naumann P, Hutter B, Horak P, Jahn A, Schröck E, Haag GM, Apostolidis L, Jäger D, Stenzinger A, Fröhling S, Glimm H, Heining C. |►| Pancreatology. 2020 Apr;20(3):425-432. |►|PMID: 32156527.

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer. |►| Wappenschmidt B, Hauke J, Faust U, Niederacher D, Wiesmüller L, Schmidt G, Groß E, Gehrig A, Sutter C, Ramser J, Rump A, Arnold N, Meindl A. |►|Geburtshilfe Frauenheilkd. 2020 Apr;80(4):410-429. |►|PMID: 32322110

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. 2020 Mar 13;29(4):541-553. |►| PMID: 31628467

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins. |►| Abo-Rady M, Kalmbach N, Pal A, Schludi C, Janosch A, Richter T, Freitag P, Bickle M, Kahlert AK, Petri S, Stefanov S, Glass H, Staege S, Just W, Bhatnagar R, Edbauer D, Hermann A, Wegner F, Sterneckert JL. |►| Stem Cell Reports. 2020 Mar 10;14(3):390-405.|►| PMID: 32084385

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.|►|Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogné B, Curry C, D'Agostino MD, Di Donato N, Faivre L, Héron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Küry S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH. |►|  Neuron. 2020 May 6;106(3):404-420.e8. |►|PMID: 32135084

Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance. |►|Engel C, Fischer C, Zachariae S, Bucksch K, Rhiem K, Giesecke J, Herold N, Wappenschmidt B, Hübbel V, Maringa M, Reichstein-Gnielinski S, Hahnen E, Bartram CR, Dikow N, Schott S, Speiser D, Horn D, Fallenberg EM, Kiechle M, Quante AS, Vesper AS, Fehm T, Mundhenke C, Arnold N, Leinert E, Just W, Siebers-Renelt U, Weigel S, Gehrig A, Wöckel A, Schlegelberger B, Pertschy S, Kast K, Wimberger P, Briest S, Loeffler M, Bick U, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). |►| Int J Cancer. 2020 Feb 15;146(4):999-1009. |►|PMID: 31081934

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

Network-based analysis of prostate cancer cell lines reveals novel marker gene candidates associated with radioresistance and patient relapse.|►|Seifert M, Peitzsch C, Gorodetska I, Börner C, Klink B, Dubrovska A. |►| PLoS Comput Biol. 2019 Nov 4;15(11):e1007460. eCollection 2019 Nov. |►| PMID: 31682594

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

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

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

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