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03
Dez

Journal Club

Dr. Melissa Rieger stellt vor: "Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome"

B. Gentner, F. Tucci, S. Galimberti, ..., C. Baldoli, E. Montini, S. Gregor. (2021). N Engl J Med. 385(21):1929-1940.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 03. Dezember 2021

26
Nov

Journal Club

Katalin Blum stellt vor: "Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1"

Sander F. Garrelfs, Yaacov Frishberg, Sally A. Hulton, ..., John M Gansner, Tracy L McGregor, John C Lieske, ILLUMINATE-A Collaborators. (2021). N Engl J Med. 384:1216-1226.

14.00 - 15.00 Uhr | 26. November 2021

12
Nov

Journal Club

Steffen Uebe stellt vor: "Thousands of Qatari genomes inform human migration history and improve imputatoin of Arab haplotypes"

Rozaimi Mohamad Razali, Juan Rodriguez-Flores, Mohammadmersad Ghorbani, Haroon Naeem, Waleed Aamer, Elbay Aliyev, Ali Jubran, Qatar Genome Program Research Consortium, Andrew G. Clark, Khalid A. Fakhro & Younes Mokrab. (2021). Nat Commun. 12:5929.

14.00 - 15.00 Uhr | 12. November 2021

05
Nov

Journal Club

Dr. Georgia Vasileiou stellt vor: "CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis"

Julian D Gillmore, Ed Gane, Jorg Taubel, ..., John Leonard, Laura Sepp-Lorenzino, David Lebwohl. (2021). N Engl J Med. 385:493-502.

14.00 - 15.00 Uhr | 05. November 2021

21
Okt

Journal Club

Prof. Dr. André Rei sstellt vor: "Recent ultra-rare inherited variants implicate new autism candidate risk genes"

Amy B Wilfert, Tychele N Turner, Shwetha C Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang, Bradley P Coe, Hui Guo, Kendra Hoekzema, Trygve E Bakken, Lara H Winterkorn, Uday S Evani, Marta Byrska-Bishop, Rachel K Earl, Raphael A Bernier, SPARK Consortium; Michael C Zody, Evan E Eichler. (2021). Nat Genet. 8:1125-1134.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 21. Oktober 2021

02
Jul

Online Journal Club

Prof. Dr. Andreas Winterpacht stellt vor: "Functional and structural basis of extreme conservation in vertebrate 5′ untranslated regions"

Byeon GW, Cenik ES, Jiang L, Tang H, Das R, Barna M. (2021). Nat Genet. 53:729-741.

14.00 - 15.00 Uhr | 02. Juli 2021

25
Jun

Online Journal Club

Dr. med. Juliane Hoyer stellt vor: "Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women"

Breast Cancer Association Consortium. (2021). N Engl J Med. 384:428-439.

14.00 - 15.00 Uhr | 25. Juni 2021

18
Jun

Online Journal Club

Melissa Rieger stellt vor: "Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency"

Kohn DB, Booth C, Shaw K.L.,..., Malech HL, Thrasher AJ, and Gaspar HB. (2021). N Engl J Med. 2021 384:2002-2013.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 18. Juni 2021

11
Jun

Online Journal Club

Arif Ekici stellt vor: "Highly parallel and efficient single cell mRNA sequencing with paired picoliter chambers"

Zhang M, Zou Y, Xu X,..., Lin W, Zare RN & Yang C. (2020). Nature Communications 11: 2118.

14.00 - 15.00 Uhr | 11. Juni 2021

28
Mai

Online Journal Club

Steffen Uebe stellt vor: "Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits"

Beyter D., Ingimundardottir H., Oddsson A., ..., Magnusson O.T., Halldorsson B.V. & Stefansson K. (2021). Nat Genet. doi: 10.1038/s41588-021-00865-4 [Online ahead of print].

14.00 - 15.00 Uhr | 28. Mai 2021

19
Mai

Online Journal Club

Katalin Hetzelt stellt vor: "CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia"

Frangoul H, Altshuler D, Cappellini MD, Chen YS, Domm J, Eustace BK, Foell J, de la Fuente J, Grupp S, Handgretinger R, Ho TW, Kattamis A, Kernytsky A, Lekstrom-Himes J, Li AM, Locatelli F, Mapara MY, de Montalembert M, Rondelli D, Sharma A, Sheth S, Soni S, Steinberg MH, Wall D, Yen A, Corbacioglu S. (2021). N Engl J Med. 384:252-260.

1 Fortbildungspunkte

10.56 Uhr | 19. Mai 2021

07
Mai

Online Journal Club

Elisabeth Bosch stellt vor: "METTL3 regulates heterochromatin in mouse embryonic stem cells"

Xu W., Li J., Chenxi Jing Wen H., Ma H., Rong B., Diao J., Wang L., Wang J., Wu F., Tan L., Geno Shi Y., Shi Y. & Shen H. (2021). Nature 591:317–321.

14.00 - 15.00 Uhr | 07. Mai 2021

30
Apr

Online Journal Club

Carina Vogl stellt vor: "Insights into the genetic architecture of the human face"

White JD, Indencleef K, Naqvi S, Eller RJ, Hoskens H, Roosenboom J, Lee MK, Li J, Mohammed J, Richmond S, Quillen EE, Norton HL, Feingold E, Swigut T, Marazita ML, Peeters H, Hens G, Shaffer JR, Wysocka J, Walsh S, Weinberg SM, Shriver MD, Claes P. (2021). Nature Genetics 53:45–53.

14.00 - 15.00 Uhr | 30. April 2021

23
Apr

Journal Club

Stefan Haskamp stellt vor: "Transcriptomics of peripheral immune cells in generalized pustular psoriasis"

In Preparation. Vorab wird Iris Kerker die Ergebnisse ihrer Masterarbeit vorstellen: "Genetic and molecular analyses in psoriatic subtypes".

14.00 Uhr | 23. April 2021

16
Apr

Journal Club

Prof. Dr. med. André Reis stellt vor: "The major genetic risk factor for severe COVID-19 is inherited from Neanderthals"

Zeberg H, Pääbo S. (2020). Nature 587:610-612.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 16. April 2021

19
Feb

Journal Club

Georgia Vasileiou stellt vor: "Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model"

Guedj F, Siegel AE, Pennings J.L.A., Alsebaa F, Massingham LJ, Tantravahi U, and Bianchi DW. (2020). Am J Hum Genet. 107:911-931.

14.00 - 15.00 Uhr | 19. Februar 2021

29
Jan

Journal Club

Dr. Arif Ekici stellt vor: "In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice"

Koblan LW, Erdos MR, Wilson C, ...Collins FS, Brown JD, Liu DR. (2021). Nature doi: 10.1038/s41586-020-03086-7. Online ahead of print.

14.00 - 15.00 Uhr | 29. Januar 2021

22
Jan

Journal Club

Prof. Dr. Andreas Winterpacht stellt vor:"Imprinted maternally expressed microRNAs antagonize paternally driven gene programs in neurons"

Whipple AJ, Breton-Provencher V, Jacobs HN, Chitta UK, Sur M, Sharp PA. (2020). Molecular Cell 78:85-95.

14.00 - 15.00 Uhr | 22. Januar 2021

15
Jan

Journal Club

Prof. Dr. Christian Thiel stellt vor: "Genomic Sequencing for Newborn Screening: "Results of the NC NEXUS Project"

Roman TS, Crowley SB, Roche MI, ..., Weck KE, Powell CM, Berg JS. (2020). Am J Hum Genet 107:596-611.

14.00 - 15.00 Uhr | 15. Januar 2021

11
Dez

Journal Club

Anna Fliedner stellt vor: "Roles of transcriptional regulator PHF6 and transcriptional terminator SCAF4 in neurodevelopment"

Anna Fliedner präsentiert die Ergebnisse ihrer Doktorarbeit.

14.00 - 15.00 Uhr | 11. Dezember 2020

04
Dez

Journal Club

Melissa Rieger stellt vor: "The Genetic Landscape and Epidemiology of Phenylketonuria"

Hillert A, Anikster Y, Belanger-Quintana A,..., Hoffmann GF, Garbade SF, Blau N. 2020. Am J Hum Genet 107:234–250.

14.00 - 15.00 Uhr | 04. Dezember 2020

27
Nov

Journal Club

Esen Gümüslü stellt vor: "Exome sequencing in infants with congenital hearing impairment: a population-based cohort study"

Downie L., Halliday J., Burt R., ..., Rehm H.L., Melbourne Genomics Health Alliance & Amor D.J. (2020). European Journal of Human Genetics 28:587–596.

14.00 Uhr | 27. November 2020

31
Jul

Journal Club

Franziska Langhammer stellt vor: "Behavioral and neural correlates of hide-and-seek in rats"

Reinhold AS, Sanguinetti-Scheck JI, Hartmann K, Brecht M. (2019). Science 365:1180-1183.

14.00 - 15.00 Uhr | 31. Juli 2020

24
Jul

Journal Club

Anne Gregor stellt vor: "Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease"

Elitt MS, Barbar L, Shick HE, ..., Ronald A Conlon RA, Rigo F, Tesar PJ (2020). Nature doi: 10.1038/s41586-020-2494-3; online ahead of print.

14.00 - 15.00 Uhr | 24. Juli 2020

10
Jul

Journal Club

Juliane Hoyer stellt vor: "Genetic Basis of Ruminant Headgear and Rapid Antler Regeneration"

Wang Y, Zhang C, Wang N, Li Z, Heller R, Liu R, Zhao Y, Han J, Pan X, Zheng Z, Dai X, Chen C, Dou M, Peng S, Chen X, Liu J, Li M, Wang K, Liu C, Lin Z, Chen L, Hao F, Zhu W, Song C, Zhao C, Zheng C, Wang J, Hu S, Li C, Yang H, Jiang L, Li G, Liu M, Sonstegard TS, Zhang G, Jiang Y, Wang W, Qiu Q. (2019). Science 364:eaav6335.

14.00 - 15.00 Uhr | 10. Juli 2020

26
Jun

Journal Club

Anna Fliedner stellt vor: "Sleep Loss Can Cause Death through Accumulation of Reactive Oxygen Species in the Gut"

Alexandra Vaccaro, Yosef Kaplan Dor, Keishi Nambara, Elizabeth A Pollina, Cindy Lin, Michael E Greenberg, Dragana Rogulja (2020). Cell; published online ahead of print; S0092-8674(20)30555-9.

14.00 - 15.00 Uhr | 26. Juni 2020

19
Jun

Journal Club

Sarah Schuhmann stellt vor: "Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders"

Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, ..., Charles E Schwartz, David Genevieve, Bekim Sadikovic. (2020). Am J Hum Genet. 106:356-370.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 19. Juni 2020

29
Mai

Journal Club

Carina Mayer stellt vor: "Search-and-replace genome editing without double-strand breaks or donor DNA"

Anzalone AV, Randolph PB, Davis JR, Sousa AA, Koblan LW, Levy JM, Chen PJ, Wilson C, Newby GA, Raguram A, Liu DR. (2019). Nature 576:149-157.

14.00 - 15.00 Uhr | 29. Mai 2020

08
Mai

Journal Club

PD Dr. med. Christian Thiel stellt vor: "Genetic contributions to variation in human stature in prehistoric Europe"

Cox SL, Ruff CB, Maier RM, Mathieson I. (2019). Genetic contributions to variation in human stature in prehistoric Europe. PNAS 116:21484-21492.

14.00 - 15.00 Uhr | 08. Mai 2020

31
Jan

Journal Club

Christiane Zweier stellt vor: "Neuronal impact of patient-specific aberrant NRXN1α splicing"

Flaherty E, Zhu S, Barretto N, ..., Sebra R, Fang G, Brennand KJ. (2019). Nature Genetics 51:1679-1960.

14.00 - 15.00 Uhr | 31. Januar 2020

10
Jan

Journal Club

Marie Therese Wittmann stellt vor: "Transcription factor 4 orchestrates forebrain commissure development by modulating the activity of key transcription factors"

Progress Report zur Promotion

14.00 - 15.00 Uhr | 10. Januar 2020

13
Dez

Journal Club

Katalin Hetzelt stellt vor: "Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele"

Middleton PG, Mall MA, Dřevínek P,..., Rowe SM, Jain R; VX17-445-102 Study Group. (2019). N Engl J Med. 381:1809-1819.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 13. Dezember 2019

06
Dez

Journal Club: Elisabeth Bosch stellt vor: "Unified single-cell analysis of testis gene regulation and pathology in five mouse strains"

Jung M, Wells D, Rusch J, Ahmad S, Marchini J, Myers SR, Conrad DF. (2019). Elife pii: e43966.

1 Fortbildungspunkte

14.00 - 16.00 Uhr | 06. Dezember 2019

15
Nov

Journal Club

Prof. Andreas Winterpacht stellt vor: "The ChAHP Complex Counteracts Chromatin Looping at CTCF Sites that Emerged from SINE Expansions in Mouse"

Kaaij L.J.T., Mohn F., van der Weide R.H., de Wit E., Bühler M. (2019). Cell 178: 1437-1451.

14.00 - 15.00 Uhr | 15. November 2019

26
Jul

Journal Club

Cornelia Kraus stellt vor: "Quantifying the contribution of recessive coding variation to developmental disorders"

Martin HC, Jones WD, McIntyre R, ..., Hurles ME, Barrett JC; Deciphering Developmental Disorders Study. (2018). Science 362:1161-1164.

14.00 - 15.00 Uhr | 26. Juli 2019

12
Jul

Journal Club

Francesca Pasutto stellt vor: "Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease"

Albert S, Garanto A, Sangermano R, Khan M, Bax NM, Hoyng CB, Zernant J, Lee W, Allikmets R, Collin RWJ, Cremers FPM. (2018). Am J Hum Genet. 102:517-527.

14.00 - 15.00 Uhr | 12. Juli 2019

05
Jul

Journal Club

Juliane Hoyer stellt vor: "Detecting the mutational signature of homologous recombination deficiency in clinical samples"; Tanja Meerbrei stellt ihre Masterarbeit vor: "The role of FBXO11 in neurodevelopmental disorders"

Gulhan DC, Lee JJ, Melloni GEM, Cortés-Ciriano I, Park PJ. (2019). Nat Genet. 51:912-919.

14.00 - 15.00 Uhr | 05. Juli 2019

24
Mai

Journal Club

Stefan Haskamp stellt vor: "RNA velocity of single cells"

La Manno G, Soldatov R, Zeisel A, Braun E, Hochgerner H, Petukhov V, Lidschreiber K, Kastriti ME, Lönnerberg P, Furlan A, Fan J, Borm LE, Liu Z, van Bruggen D, Guo J, He X, Barker R, Sundström E, Castelo-Branco G, Cramer P, Adameyko I, Linnarsson S, Kharchenko PV. (2018). Nature, 560: 494.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 24. Mai 2019

17
Mai

Journal Club

Carina Vogl stellt vor: "Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions"

Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. (2019). Am J Hum Genet. 104:685-700.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 17. Mai 2019

10
Mai

Journal Club

Moritz Hebebrand stellt vor: "Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1"

Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, ..., Malech HL, Puck JM, Cowan MJ, Sorrentino BP. (2019). N Engl J Med. 380:1525-1534.

14.00 - 15.00 Uhr | 10. Mai 2019

26
Apr

Journal Club

Anne Gregor stellt vor: "Genetic compensation triggered by mutant mRNA degradation"

El-Brolosy MA, Kontarakis Z, Rossi A, Kuenne C, Günther S, Fukuda N, Kikhi K, Boezio GLM, Takacs CM, Lai SL, Fukuda R, Gerri C, Giraldez AJ, Stainier DYR. (2019). Nature 568: 193–197.

14.00 - 15.00 Uhr | 26. April 2019

15
Feb

Journal Club

Andreas Winterpacht stellt vor: "Liquid Nuclear Condensates Mechanically Sense and Restructure the Genome"

Shin Y, Chang YC, Lee DSW, Berry J, Sanders DW, Ronceray P, Wingreen N, Haataja M, Brangwynne CP. (2018). Cell 175: 1481-1491.

14.00 - 15.00 Uhr | 15. Februar 2019

08
Feb

Journal Club

Christiane Zweier stellt vor: "Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis"

Kragesteen BK, Spielmann M, Paliou C, ..., Nicodemi M, Mundlos S, Andrey G. (2019). Nature Genetics 50: 1463–1473.

14.00 - 15.00 Uhr | 08. Februar 2019

01
Feb

Journal Club

Christian Thiel stellt vor: "Identifying facial phenotypes of genetic disorders using deep learning"

Yaron Gurovich, Yair Hanani, Omri Bar, Guy Nadav, Nicole Fleischer, Dekel Gelbman, Lina Basel-Salmon, Peter M. Krawitz, Susanne B. Kamphausen, Martin Zenker, Lynne M. Bird & Karen W. Gripp. (2019). Nature Medicine 25: 60–64.

14.00 - 15.15 Uhr | 01. Februar 2019

25
Jan

Journal Club

Bernt Popp stellt vor: "Giant tortoise genomes provide insights into longevity and age-related disease"

Quesada V, Freitas-Rodríguez S, Miller J, ..., White KP, Caccone A, López-Otín C2. (2019). Nature Ecology & Evolution 3: 87-95.

14.00 - 15.00 Uhr | 25. Januar 2019

11
Jan

Journal Club

Christiane Zweier stellt vor: "Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis"

Kragesteen BK, Spielmann M, Paliou C, Heinrich V, ..., Visel A, Nicodemi M, Mundlos S, Andrey G. (2018). Nature Genetics 50: 1463–1473.

14.00 - 15.00 Uhr | 11. Januar 2019

14
Dez

Journal Club

Philipp Kirchner stellt vor: "Joint profiling of chromatin accessibility and gene expression in thousands of single cells"

Cao J, Cusanovich DA, Ramani V, Aghamirzaie D, Pliner HA, Hill AJ, Daza RM, McFaline-Figueroa JL, Packer JS, Christiansen L, Steemers FJ, Adey AC, Trapnell C, Shendure J. (2018). Science 361:1380-1385.

14.00 - 15.00 Uhr | 14. Dezember 2018

07
Dez

Journal Club

Marie-Theres Wittmann stellt vor: "Genetic identification of brain cell types underlying schizophrenia"

Skene NG, Bryois J, Bakken TE, Breen G,..., Walters JTR, Linnarsson S, Lein ES. (2018). Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Sullivan PF, Hjerling-Leffler J. Nat Genet. 50:825-833.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 07. Dezember 2018

30
Nov

Journal Club

Ulrike Hüffmeier stellt vor: "Integration of multi-omics data and deep phenotyping enables prediction of cytokine responses"

Bakker OB, Aguirre-Gamboa R, Sanna S, Oosting M, Smeekens SP, Jaeger M, Zorro M, Võsa U, Withoff S, Netea-Maier RT, Koenen HJPM, Joosten I, Xavier RJ, Franke L, Joosten LAB, Kumar V, Wijmenga C, Netea MG, Li Y. (2018). Nat Immunol. 19:776-786.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 30. November 2018

23
Nov

Journal Club

Steffen Uebe stellt vor:"Early human dispersals within the Americas"

Moreno-Mayar JV, Vinner L, de Barros Damgaard P,..., Song YS, Meltzer DJ, Willerslev E. (2018). Science. doi: 10.1126/science.aav2621. [Epub ahead of print]

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 23. November 2018

16
Nov

Journal Club

Michel Hadjihannas stellt vor: "Epigenetic Regulation by BAF Complexes Limits Neural Stem Cell Proliferation by Suppressing Wnt Signaling in Late Embryonic Development"

Nguyen H, Kerimoglu C, Pirouz M, Pham L, Kiszka KA, Sokpor G, Sakib MS, Rosenbusch J, Teichmann U, Seong RH, Stoykova A, Fischer A, Staiger JF, Tuoc T. (2018). Stem Cell Reports 10: 1734-1750.

14.00 - 15.00 Uhr | 16. November 2018

09
Nov

Journal Club

Jonas Straub stellt vor: "Evaluating recovery potential of the northern white rhinoceros from cryopreserved somatic cells"

Tunstall T., Kock R., Vahala J., Diekhans M., Fiddes I. , Armstrong J. , Paten B., Ryder O.A., Steiner C.C. (2018). Genome Research 28: 780–788. Anna

14.00 - 15.00 Uhr | 09. November 2018

26
Okt

Journal Club

Prof. André Reis stellt vor: "Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence"

Savage J. E., Jansen P.R., Stringer S., ..., Vrieze S.I., Wright M.J., Posthuma D. (2018). Nature Genetics 50: 912–919.

14.00 - 15.00 Uhr | 26. Oktober 2018

13
Jul

Journal Club

Moritz Hebebrand stellt vor: "Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity"

Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR. (2018). Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity. Am J Hum Genet. 102:1062-1077.

1 Fortbildungspunkte

14.00 - 15.00 Uhr | 13. Juli 2018

06
Jul

Journal Club

Georgia Vasileiou stellt vor: "Selective Loss of PARG Restores PARylation and Counteracts PARP Inhibitor-Mediated Synthetic Lethality"

Gogola E, Duarte AA, de Ruiter JR et al.,....., and Rottenberg S. (2018). Selective Loss of PARG Restores PARylation and Counteracts PARP Inhibitor-Mediated Synthetic Lethality. Cancer Cell 33:1078-1093.

14.00 Uhr | 06. Juli 2018

29
Jun

Journal Club

Stefan Haskamp stellt vor: "Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage"

Betts JA, Moradi Marjaneh M, Al-Ejeh F et al. and French JD. (2017). Am J Hum Genet. 101:255-266.

16.20 Uhr | 29. Juni 2018

18
Jun

Journal Club

Dr. Cornelia Kraus stellt vor: "Paternally inherited cis-regulatory structural variants are associated with autism"

Brandler WM, Antaki D, Gujral M, et al. and Sebat . (2018). Science. 360:327-331.

16.06 Uhr | 18. Juni 2018

15
Jun

Journal Club

Didem Seven stellt vor: "Transcriptome Analysis in Glioblastoma Patients"

Doktorarbeit

14.00 - 15.00 Uhr | 15. Juni 2018

04
Mai

Journal Club

Elisabeth Bosch stellt vor:"LINE-1 activation after fertilization regulates global chromatin accessibility in the early mouse embryo"

Jachowicz JW, Bing X, Pontabry J, Bošković A, Rando OJ, Torres-Padilla ME. (2017)Nat Genet. 49:1502-1510.

14.00 - 15.00 Uhr | 04. Mai 2018

27
Apr

Journal Club

Anne Gregor stellt vor: "Accurate functional classification of thousands of BRCA1 variants with saturation genome editing"

Findlay G.M., Daza R. M., Martin B., Zhang M. D., Leith A. P., Gasperini M., Janizek J.D., Huang X., Starita L. M., Shendure J. 2018. BioRxiv, preprint, doi: 10.1101/294520.

14.00 - 15.00 Uhr | 27. April 2018

09
Feb

Journal Club

Bernt Popp stellt vor: "A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer"

Polak P, Kim J, Braunstein LZ, Karlic R, Haradhavala NJ, Tiao G, Rosebrock D, Livitz D, Kübler K, Mouw KW, Kamburov A, Maruvka YE, Leshchiner I, Lander ES, Golub TR, Zick A, Orthwein A, Lawrence MS, Batra RN Caldas C, Haber DA, Laird PW, Shen H, Ellisen LW, D'Andrea AD, Chanock SJ, Foulkes WD, Getz G. (2017.) Nat Genet. 49:1476-1486.

14.00 - 15.00 Uhr | 09. Februar 2018

02
Feb

Journal Club

Ulrike Hüffmeier stellt vor: "Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease"

Lee JC, Biasci D, Roberts R, Gearry RB, Mansfield JC, Ahmad T, Prescott NJ, Satsangi J, Wilson DC, Jostins L, Anderson CA; UK IBD Genetics Consortium, Traherne JA, Lyons PA, Parkes M, Smith KG. (2017). Nat Genet. 49:262-268.

02. - 01. Februar 2018

26
Jan

Journal Club

Arif Ekici stellt vor: "Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis"

Barseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Délot EC, Nelson SF, Vilain E. (2017). Genome Med. 9:90.

14.00 - 15.00 Uhr | 26. Januar 2018

19
Jan

Journal Club

Christiane Zweier stellt vor: "The Dynamic Landscape of Open Chromatin during Human Cortical Neurogenesis"

de la Torre-Ubieta L, Stein JL, Won H, Opland CK, Liang D, Lu D, Geschwind DH (2018). Cell 172:289-304.

14.00 - 15.00 Uhr | 19. Januar 2018