Max Delbrück Center for Molecular Medicine

Contact Info:

Janine Altmüller

Hannoversche Straße 28

Berlin 10115

https://www.mdc-berlin.de/genomics

Grants and Identifiers:

RRID: RRID:SCR_022782

Instrumentation:

Other Equipment

PacBio Sequel II ONT PromethIon

Services Provided:

10x Genomics

Assay Development

ATAC-Seq

Automated Liquid Handling

Bisulfite Conversion

Cell Sorting

CITE-seq

Clinical Genomics

Consultation

DNA Analysis

FACS Cell Sorting

Genomics

Long Read Sequencing

Metabtranscriptomic

Metagenomics Analysis

Methylation Analysis

Microbiome

Nanopore Sequencing

NanoString GeoMx DSP

RNA analysis

RNA Modification Analysis

RNAseq

Sample Preparation

Sequencing - DNA Sequencing

Sequencing - Next Generation Sequencing (NGS)

Single-Cell Analysis

Single-cell Sequencing

Single-molecule Imaging

Spatial Transcriptomics

Whole Exome Sequencing

Whole Genome Amplification (WGA)

Whole Genome Sequencing

Relevant Publications:

1.) Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B (2022 Oct). WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Human mutation, 43(10), 1454-1471. doi: 10.1002/humu.24430. ID: 35790048.

2.) Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P (2022 Sep 14). Mutations in TAF8 cause a neurodegenerative disorder. Brain : a journal of neurology, 145(9), 3022-3034. . ID: 35759269.

3.) Conrad T, Altmüller J (2022 Aug). Single cell- and spatial Acta physiologica (Oxford, England), 235(4), e13848. doi: 10.1111/apha.13848. ID: 35656634.

4.) Degenhardt F, Ellinghaus D, Juzenas S, Lerga-Jaso J, Wendorff M, Maya-Miles D, Uellendahl-Werth F, ElAbd H, Rühlemann MC, Arora J, Özer O, Lenning OB, Myhre R, Vadla MS, Wacker EM, Wienbrandt L, Ortiz AB, Salazar A, Chercoles AG, Palom A, Ruiz A, Garcia-Fernandez AE, Blanco-Grau A, Mantovani A, Zanella A, Holten AR, Mayer A, Bandera A, Cherubini A, Protti A, Aghemo A, Gerussi A, Ramirez A, Braun A, Nebel A, Barreira A, Lleo A, Teles A, Kildal AB, Biondi A, Caballero-Garralda A, Ganna A, Gori A, (2022 Jul 15). Detailed stratified GWAS analysis for severe COVID-19 in four European populations. Human molecular genetics, (), . . ID: 35848942.

5.) Asif M, Kaygusuz E, Shinawi M, Nickelsen A, Hsieh TC, Wagle P, Budde BS, Hochscherf J, Abdullah U, Höning S, Nienberg C, Lindenblatt D, Noegel AA, Altmüller J, Thiele H, Motameny S, Fleischer N, Segal I, Pais L, Tinschert S, Samra NN, Savatt JM, Rudy NL, De Luca C, Paola Fortugno, White SM, Krawitz P, Hurst ACE, Niefind K, Jose J, Brancati F, Nürnberg P, Hussain MS (2022 Jul 14). <i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. HGG advances, 3(3), 100111. doi: 10.1016/j.xhgg.2022.100111. ID: 35571680.

6.) Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank MA, Allen J, Altmüller J, Arnold N, Ausems MGEM, Berutti R, Bolla MK, Bull S, Carvalho S, Cornelissen S, Dufault MR, Dunning AM, Engel C, Gehrig A, Geurts-Giele WRR, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst FBL, Hollestelle A, Hooning MJ, Horváth J, Ikram MA, Kaulfuß S, Keeman R, Kuang D, Luccarini C, Maier W, Martens JW (2022 Jul 11). Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers, 14(14), . . ID: 35884425.

7.) Rolfes M, Borde J, Möllenhoff K, Kayali M, Ernst C, Gehrig A, Sutter C, Ramser J, Niederacher D, Horváth J, Arnold N, Meindl A, Auber B, Rump A, Wang-Gohrke S, Ritter J, Hentschel J, Thiele H, Altmüller J, Nürnberg P, Rhiem K, Engel C, Wappenschmidt B, Schmutzler RK, Hahnen E, Hauke J (2022 Jul 5). Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancers, 14(13), . . ID: 35805063.

8.) Andreotti S, Altmüller J, Quedenau C, Borodina T, Nouailles G, Teixeira Alves LG, Landthaler M, Bieniara M, Trimpert J, Wyler E (2022 Jul 2). De Novo-Whole Genome Assembly of the Roborovski Dwarf Hamster (Phodopus roborovskii) Genome: An Animal Model for Severe/Critical COVID-19. Genome biology and evolution, 14(7), . . ID: 35778793.

9.) Thomalla D, Beckmann L, Grimm C, Oliverio M, Meder L, Herling CD, Nieper P, Feldmann T, Merkel O, Lorsy E, da Palma Guerreiro A, von Jan J, Kisis I, Wasserburger E, Claasen J, Faitschuk-Meyer E, Altmüller J, Nürnberg P, Yang TP, Lienhard M, Herwig R, Kreuzer KA, Pallasch CP, Buettner R, Schäfer SC, Hartley J, Abken H, Peifer M, Kashkar H, Knittel G, Eichhorst B, Ullrich RT, Herling M, Reinhardt HC, Hallek M, Schweiger MR, Frenzel LP (2022 Jun 15). Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies. Blood, (), . . ID: 35704690.

10.) Schlautmann LP, Lackmann JW, Altmüller J, Dieterich C, Boehm V, Gehring NH (2022 Jun 10). Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance. Nucleic acids research, 50(10), 5899-5918. . ID: 35640609.

11.) Tschernoster N, Erger F, Walsh PR, McNicholas B, Fistrek M, Habbig S, Schumacher AL, Folz-Donahue K, Kukat C, Toliat MR, Becker C, Thiele H, Kavanagh D, Nürnberg P, Beck BB, Altmüller J (2022 Jun). Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing. The Journal of molecular diagnostics : JMD, 24(6), 619-631. . ID: 35398599.

12.) Wallmeroth D, Lackmann JW, Kueckelmann S, Altmüller J, Dieterich C, Boehm V, Gehring NH (2022 May 16). Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay. The EMBO journal, 41(10), e109191. doi: 10.15252/embj.2021109191. ID: 35451084.

13.) Piechotta M, Naarmann-de Vries IS, Wang Q, Altmüller J, Dieterich C (2022 May 16). RNA modification mapping with JACUSA2. Genome biology, 23(1), 115. doi: 10.1186/s13059-022-02676-0. ID: 35578346.

14.) Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B (2022 May). Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome. Clinical genetics, 101(5), 559-564. doi: 10.1111/cge.14125. ID: 35218564.

15.) Reuter MS, Zech M, Hempel M, Altmüller J, Heung T, Pölsler L, Santer R, Thiele H, Trost B, Kubisch C, Scherer SW, Rudnik-Schöneborn S, Bassett AS, Lessel D (2022 May). Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. European journal of human genetics : EJHG, 30(5), 611-618. doi: 10.1038/s41431-022-01077-y. ID: 35304602.

16.) Leenen E, Erger F, Altmüller J, Wenzel A, Thiele H, Harth A, Tschernoster N, Lokhande S, Joerres A, Becker JU, Ekici A, Huettel B, Beck B, Weidemann A (2022 Apr 29). Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end stage renal disease of unknown origin - a single center analysis. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, (), . . ID: 35485766.

17.) Kanber D, Woestefeld J, Döpper H, Bozet M, Brenzel A, Altmüller J, Kilpert F, Lohmann D, Pommerenke C, Steenpass L (2022 Apr 26). <i>RB1</i>-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation. Cancers, 14(9), . . ID: 35565295.

18.) Boileau E, Li X, Naarmann-de Vries IS, Becker C, Casper R, Altmüller J, Leuschner F, Dieterich C (2022). Full-Length Spatial Transcriptomics Reveals the Unexplored Isoform Diversity of the Myocardium Post-MI. Frontiers in genetics, 13(), 912572. doi: 10.3389/fgene.2022.912572. ID: 35937994.

19.) Sobesky S, Mammadova L, Cirillo M, Drees EEE, Mattlener J, Dörr H, Altmüller J, Shi Z, Bröckelmann PJ, Weiss J, Kreissl S, Sasse S, Ullrich RT, Reinke S, Klapper W, Gerhard-Hartmann E, Rosenwald A, Roemer MGM, Nürnberg P, Hagenbeek A, Zijlstra JM, Pegtel DM, Engert A, Borchmann P, von Tresckow B, Borchmann S (2021 Oct 8). In-depth cell-free DNA sequencing reveals genomic landscape of Hodgkin Med (New York, N.Y.), 2(10), 1171-1193.e11. . ID: 35590205.

Description:

Joined technology platform for NGS, single cell and spatial technologies from two large institutes in Berlin: the Max Delbrück Center for Molecular Medicine and the Berlin Institute of Health @ Charité