Publikationen 2016 - 2013
In diesem Abschnitt finden Sie die Publikationen des Instituts für Klinische Genetik von 2016 bis 2013. Bitte nutzen Sie die Direktlinks, um auf spezielle Jahre zu wechseln. [2024 - 2022] |►| [2021 - 2017] |►| [2016] |►| [2015] |►| [2014] |►| [ 2013] |►| [2012 - 2008] |►| [2007 - 1998] 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 |
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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 |
Publikationen 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 |