Sebastian Waszak, PhD
Associate Professor
Neurology
School of Medicine

Awards

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• Top Poster Award, Society for Neuro-Oncology, 2023
• Global Inclusion Award, Children's Brain Tumor Network, 2022
• Postdoctoral Fellowship, European Molecular Biology Laboratory, 2018
• Early Career Award, Swiss Institute of Bioinformatics, 2017
• Postdoctoral Long-Term Fellowship, European Molecular Biology Organization, 2016
• Special Distinction for Doctoral Thesis, École Polytechnique Fédérale de Lausanne, 2015
• Early Postdoc.Mobility Fellowship, Swiss National Science Foundation, 2014
• Prime Spéciale du Doyen, École Polytechnique Fédérale de Lausanne, 2013
• Feinberg Graduate School Fellowship, Weizmann Institute of Science, 2009

Education & Training

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• Postdoc Cancer Genomics European Molecular Biology Laboratory 03/2019
• PhD Biotechnology/Bioengineering École Polytechnique Fédérale de Lausanne 06/2014

Interests

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• Systems Genetics
• Medulloblastoma
• Diffuse Midline Glioma
• Genetic Tumor Syndromes
• Pediatric Brain Tumors
• Cancer Genomics
• Computational Biology
• Cellular origin of brain tumors
• Cancer Evolution

Websites

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• Waszak Lab (waszaklab.org)

Publications (77)

Top publication keywords:
GliomaMedulloblastomaGenomicsMutationGenetic VariationCerebellar NeoplasmsOncogenesDNA Copy Number VariationsComputational BiologyDNA Mutational AnalysisGenome, HumanNeoplasmsWhole Genome SequencingTranscriptional Elongation FactorsGerm-Line Mutation

• Everolimus for Children With Recurrent or Progressive Low-Grade Glioma: Results From the Phase II PNOC001 Trial.
  Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2023 Haas-Kogan DA, Aboian MS, Minturn JE, Leary SES, Abdelbaki MS, Goldman S, Elster JD, Kraya A, Lueder MR, Ramakrishnan D, von Reppert M, Liu KX, Rokita JL, Resnick AC, Solomon DA, Phillips JJ, Prados M…
• Clinical Efficacy of ONC201 in H3K27M-Mutant Diffuse Midline Gliomas Is Driven by Disruption of Integrated Metabolic and Epigenetic Pathways.
  Cancer discovery 2023 Venneti S, Kawakibi AR, Ji S, Waszak SM, Sweha SR, Mota M, Pun M, Deogharkar A, Chung C, Tarapore RS, Ramage S, Chi A, Wen PY, Arrillaga-Romany I, Batchelor TT, Butowski NA, Sumrall A, Shonka N, …
• Upfront Biology-Guided Therapy in Diffuse Intrinsic Pontine Glioma: Therapeutic, Molecular, and Biomarker Outcomes from PNOC003.
  Clinical cancer research : an official journal of the American Association for Cancer Research 2022 Kline C, Jain P, Kilburn L, Bonner ER, Gupta N, Crawford JR, Banerjee A, Packer RJ, Villanueva-Meyer J, Luks T, Zhang Y, Kambhampati M, Zhang J, Yadavilli S, Zhang B, Gaonkar KS, Rokita JL, Kraya A, …
• Pan-cancer analysis of whole genomes.
  Nature 2020 ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
• Population Variation and Genetic Control of Modular Chromatin Architecture in Humans.
  Cell 2015 Waszak SM, Delaneau O, Gschwind AR, Kilpinen H, Raghav SK, Witwicki RM, Orioli A, Wiederkehr M, Panousis NI, Yurovsky A, Romano-Palumbo L, Planchon A, Bielser D, Padioleau I, Udin G, Thurnheer S, …
• Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data.
  Bioinformatics (Oxford, England) 2013 Waszak SM, Kilpinen H, Gschwind AR, Orioli A, Raghav SK, Witwicki RM, Migliavacca E, Yurovsky A, Lappalainen T, Hernandez N, Reymond A, Dermitzakis ET, Deplancke B
• Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription.
  Science (New York, N.Y.) 2013 Kilpinen H, Waszak SM, Gschwind AR, Raghav SK, Witwicki RM, Orioli A, Migliavacca E, Wiederkehr M, Gutierrez-Arcelus M, Panousis NI, Yurovsky A, Lappalainen T, Romano-Palumbo L, Planchon A, Bielser D,…
• Genomic variation and its impact on gene expression in Drosophila melanogaster.
  PLoS genetics 2012 Massouras A, Waszak SM, Albarca-Aguilera M, Hens K, Holcombe W, Ayroles JF, Dermitzakis ET, Stone EA, Jensen JD, Mackay TF, Deplancke B

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• Rational combination platform trial design for children and young adults with Diffuse Midline Glioma: a report from PNOC.
  Neuro-oncology 2023 Mueller S, Kline C, Franson A, van der Lugt J, Prados M, Waszak SM, Plasschaert S, Molinaro AM, Koschmann C, Nazarian J
• Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome.
  Neuro-oncology 2023 Kolodziejczak AS, Guerrini-Rousseau L, Planchon JM, Ecker J, Selt F, Mynarek M, Obrecht D, Sill M, Autry RJ, Stutheit-Zhao E, Hirsch S, Amouyal E, Dufour C, Ayrault O, Torrejon J, Waszak SM, Ramaswamy…
• Clinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations.
  Acta neuropathologica 2023 Roberts HJ, Ji S, Picca A, Sanson M, Garcia M, Snuderl M, Schüller U, Picart T, Ducray F, Green AL, Nakano Y, Sturm D, Abdullaev Z, Aldape K, Dang D, Kumar-Sinha C, Wu YM, Robinson D, Vo JN, …
• Pan-cancer atlas of somatic core and linker histone mutations.
  NPJ genomic medicine 2023 Bonner ER, Dawood A, Gordish-Dressman H, Eze A, Bhattacharya S, Yadavilli S, Mueller S, Waszak SM, Nazarian J
• Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.
  Genome medicine 2023 Sanjaya P, Maljanen K, Katainen R, Waszak SM, Genomics England Research Consortium, Aaltonen LA, Stegle O, Korbel JO, Pitkänen E
• Enterosignatures define common bacterial guilds in the human gut microbiome.
  Cell host & microbe 2023 Frioux C, Ansorge R, Özkurt E, Ghassemi Nedjad C, Fritscher J, Quince C, Waszak SM, Hildebrand F
• Reply to Li and Colleagues.
  Journal of the National Cancer Institute 2023 Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D
• WHO Classification of Tumours. Genetic Tumour Syndromes
  ELP1-related medulloblastoma predisposition syndrome. 2023 Waszak SM, Bourdeaut F, Nichols KE, Walsh MF
• ONC201 in Combination with Paxalisib for the Treatment of H3K27-Altered Diffuse Midline Glioma.
  Cancer research 2023 Jackson ER, Duchatel RJ, Staudt DE, Persson ML, Mannan A, Yadavilli S, Parackal S, Game S, Chong WC, Jayasekara WSN, Grand ML, Kearney PS, Douglas AM, Findlay IJ, Germon ZP, McEwen HP, Beitaki TS, …
• A polygenic two-hit hypothesis for prostate cancer.
  Journal of the National Cancer Institute 2023 Houlahan KE, Livingstone J, Fox NS, Kurganovs N, Zhu H, Sietsma Penington J, Jung CH, Yamaguchi TN, Heisler LE, Jovelin R, Costello AJ, Pope BJ, Kishan AU, Corcoran NM, Bristow RG, Waszak SM, …
• Reply to Evans and Woodward.
  Journal of the National Cancer Institute 2023 Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D
• Therapeutic targeting of prenatal pontine ID1 signaling in diffuse midline glioma.
  Neuro-oncology 2023 Messinger D, Harris MK, Cummings JR, Thomas C, Yang T, Sweha SR, Woo R, Siddaway R, Burkert M, Stallard S, Qin T, Mullan B, Siada R, Ravindran R, Niculcea M, Dowling AR, Bradin J, Ginn KF, Gener MAH, …
• Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
  Journal of the National Cancer Institute 2022 Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D
• Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas.
  Neuro-oncology 2022 Przystal JM, Cianciolo Cosentino C, Yadavilli S, Zhang J, Laternser S, Bonner ER, Prasad R, Dawood AA, Lobeto N, Chin Chong W, Biery MC, Myers C, Olson JM, Panditharatna E, Kritzer B, Mourabit S, …
• Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
  Journal of medical genetics 2022 Guerrini-Rousseau L, Masliah-Planchon J, Waszak SM, Alhopuro P, Benusiglio PR, Bourdeaut F, Brecht IB, Del Baldo G, Dhanda SK, Garrè ML, Gidding CEM, Hirsch S, Hoarau P, Jorgensen M, Kratz C, Lafay-…
• Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study.
  European urology 2022 Burns D, Anokian E, Saunders EJ, Bristow RG, Fraser M, Reimand J, Schlomm T, Sauter G, Brors B, Korbel J, Weischenfeldt J, Waszak SM, Corcoran NM, Jung CH, Pope BJ, Hovens CM, Cancel-Tassin G, …
• A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation.
  Nature communications 2022 Llimos G, Gardeux V, Koch U, Kribelbauer JF, Hafner A, Alpern D, Pezoldt J, Litovchenko M, Russeil J, Dainese R, Moia R, Mahmoud AM, Rossi D, Gaidano G, Plass C, Lutsik P, Gerhauser C, Waszak SM, …
• WHO Classification of Tumours. Central Nervous System Tumours
  ELP1-medulloblastoma syndrome 2022 Stefan M. Pfister, Sebastian M. Waszak
• Pharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies.
  Oncogene 2021 Findlay IJ, De Iuliis GN, Duchatel RJ, Jackson ER, Vitanza NA, Cain JE, Waszak SM, Dun MD
• Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas.
  Leukemia 2021 Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, …
• Mechanisms of imipridones in targeting mitochondrial metabolism in cancer cells.
  Neuro-oncology 2021 Bonner ER, Waszak SM, Grotzer MA, Mueller S, Nazarian J
• Versatile workflow for cell type-resolved transcriptional and epigenetic profiles from cryopreserved human lung.
  JCI insight 2021 Llamazares-Prada M, Espinet E, Mijošek V, Schwartz U, Lutsik P, Tamas R, Richter M, Behrendt A, Pohl ST, Benz NP, Muley T, Warth A, Heußel CP, Winter H, Landry JJM, Herth FJ, Mertens TC, Karmouty-…
• Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
  Nature communications 2020 Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Saksena G, Ellrott K, …
• Sex differences in oncogenic mutational processes.
  Nature communications 2020 Li CH, Prokopec SD, Sun RX, Yousif F, Schmitz N, PCAWG Tumour Subtypes and Clinical Translation, Boutros PC, PCAWG Consortium
• Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors.
  EMBO molecular medicine 2020 Erarslan-Uysal B, Kunz JB, Rausch T, Richter-Pechanska P, van Belzen IA, Frismantas V, Bornhauser B, Ordoñez-Rueada D, Paulsen M, Benes V, Stanulla M, Schrappe M, Cario G, Escherich G, Bakharevich K, …
• Genome-wide Screens Implicate Loss of Cullin Ring Ligase 3 in Persistent Proliferation and Genome Instability in TP53-Deficient Cells.
  Cell reports 2020 Drainas AP, Lambuta RA, Ivanova I, Serçin Ö, Sarropoulos I, Smith ML, Efthymiopoulos T, Raeder B, Stütz AM, Waszak SM, Mardin BR, Korbel JO
• Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
  Nature 2020 Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jäger N, Sharma T, Rausch T, Kool M, Sturm D, Jones …
• A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns.
  Nature communications 2020 Jiao W, Atwal G, Polak P, Karlic R, Cuppen E, PCAWG Tumor Subtypes and Clinical Translation Working Group, Danyi A, de Ridder J, van Herpen C, Lolkema MP, Steeghs N, Getz G, Morris QD, Stein LD, PCAWG…
• Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.
  Nature 2020 Rheinbay E, Nielsen MM, Abascal F, Wala JA, Shapira O, Tiao G, Hornshøj H, Hess JM, Juul RI, Lin Z, Feuerbach L, Sabarinathan R, Madsen T, Kim J, Mularoni L, Shuai S, Lanzós A, Herrmann C, Maruvka YE,…
• Butler enables rapid cloud-based analysis of thousands of human genomes.
  Nature biotechnology 2020 Yakneen S, Waszak SM, PCAWG Technical Working Group, Gertz M, Korbel JO, PCAWG Consortium
• Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis.
  Communications biology 2020 Carlevaro-Fita J, Lanzós A, Feuerbach L, Hong C, Mas-Ponte D, Pedersen JS, PCAWG Drivers and Functional Interpretation Group, Johnson R, PCAWG Consortium
• Combined burden and functional impact tests for cancer driver discovery using DriverPower.
  Nature communications 2020 Shuai S, PCAWG Drivers and Functional Interpretation Working Group, Gallinger S, Stein L, PCAWG Consortium
• Divergent mutational processes distinguish hypoxic and normoxic tumours.
  Nature communications 2020 Bhandari V, Li CH, Bristow RG, Boutros PC, PCAWG Consortium
• Genomic basis for RNA alterations in cancer.
  Nature 2020 PCAWG Transcriptome Core Group, Calabrese C, Davidson NR, Demircioglu D, Fonseca NA, He Y, Kahles A, Lehmann KV, Liu F, Shiraishi Y, Soulette CM, Urban L, Greger L, Li S, Liu D, Perry MD, Xiang Q, …
• Genomic footprints of activated telomere maintenance mechanisms in cancer.
  Nature communications 2020 Sieverling L, Hong C, Koser SD, Ginsbach P, Kleinheinz K, Hutter B, Braun DM, Cortés-Ciriano I, Xi R, Kabbe R, Park PJ, Eils R, Schlesner M, PCAWG-Structural Variation Working Group, Brors B, Rippe K,…
• High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
  Nature communications 2020 Zhang Y, Chen F, Fonseca NA, He Y, Fujita M, Nakagawa H, Zhang Z, Brazma A, PCAWG Transcriptome Working Group, PCAWG Structural Variation Working Group, Creighton CJ, PCAWG Consortium
• Inferring structural variant cancer cell fraction.
  Nature communications 2020 Cmero M, Yuan K, Ong CS, Schröder J, PCAWG Evolution and Heterogeneity Working Group, Corcoran NM, Papenfuss T, Hovens CM, Markowetz F, Macintyre G, PCAWG Consortium
• Integrative pathway enrichment analysis of multivariate omics data.
  Nature communications 2020 Paczkowska M, Barenboim J, Sintupisut N, Fox NS, Zhu H, Abd-Rabbo D, Mee MW, Boutros PC, PCAWG Drivers and Functional Interpretation Working Group, Reimand J, PCAWG Consortium
• Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.
  Nature genetics 2020 Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, …
• Pathway and network analysis of more than 2500 whole cancer genomes.
  Nature communications 2020 Reyna MA, Haan D, Paczkowska M, Verbeke LPC, Vazquez M, Kahraman A, Pulido-Tamayo S, Barenboim J, Wadi L, Dhingra P, Shrestha R, Getz G, Lawrence MS, Pedersen JS, Rubin MA, Wheeler DA, Brunak S, …
• Patterns of somatic structural variation in human cancer genomes.
  Nature 2020 Li Y, Roberts ND, Wala JA, Shapira O, Schumacher SE, Kumar K, Khurana E, Waszak S, Korbel JO, Haber JE, Imielinski M, PCAWG Structural Variation Working Group, Weischenfeldt J, Beroukhim R, Campbell …
• Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig.
  Nature communications 2020 Rubanova Y, Shi R, Harrigan CF, Li R, Wintersinger J, Sahin N, Deshwar AG, PCAWG Evolution and Heterogeneity Working Group, Morris QD, PCAWG Consortium
• The molecular landscape of ETMR at diagnosis and relapse.
  Nature 2019 Lambo S, Gröbner SN, Rausch T, Waszak SM, Schmidt C, Gorthi A, Romero JC, Mauermann M, Brabetz S, Krausert S, Buchhalter I, Koster J, Zwijnenburg DA, Sill M, Hübner JM, Mack N, Schwalm B, Ryzhova M, …
• Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
  Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 Begemann M, Waszak SM, Robinson GW, Jäger N, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Varlet P, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, …
• NCoR1: Putting the Brakes on the Dendritic Cell Immune Tolerance.
  iScience 2019 Ahad A, Stevanin M, Smita S, Mishra GP, Gupta D, Waszak S, Sarkar UA, Basak S, Gupta B, Acha-Orbea H, Raghav SK
• Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.
  Nature communications 2019 López C, Kleinheinz K, Aukema SM, Rohde M, Bernhart SH, Hübschmann D, Wagener R, Toprak UH, Raimondi F, Kreuz M, Waszak SM, Huang Z, Sieverling L, Paramasivam N, Seufert J, Sungalee S, Russell RB, …
• Antibiotics-induced monodominance of a novel gut bacterial order.
  Gut 2019 Hildebrand F, Moitinho-Silva L, Blasche S, Jahn MT, Gossmann TI, Huerta-Cepas J, Hercog R, Luetge M, Bahram M, Pryszlak A, Alves RJ, Waszak SM, Zhu A, Ye L, Costea PI, Aalvink S, Belzer C, Forslund SK…
• Molecular Evolution of Early-Onset Prostate Cancer Identifies Molecular Risk Markers and Clinical Trajectories.
  Cancer cell 2018 Gerhauser C, Favero F, Risch T, Simon R, Feuerbach L, Assenov Y, Heckmann D, Sidiropoulos N, Waszak SM, Hübschmann D, Urbanucci A, Girma EG, Kuryshev V, Klimczak LJ, Saini N, Stütz AM, Weichenhan D, …
• PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia.
  EMBO molecular medicine 2018 Richter-Pechanska P, Kunz JB, Bornhauser B, von Knebel Doeberitz C, Rausch T, Erarslan-Uysal B, Assenov Y, Frismantas V, Marovca B, Waszak SM, Zimmermann M, Seemann J, Happich M, Stanulla M, Schrappe …
• Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial.
  The Lancet. Oncology 2018 Robinson GW, Rudneva VA, Buchhalter I, Billups CA, Waszak SM, Smith KS, Bowers DC, Bendel A, Fisher PG, Partap S, Crawford JR, Hassall T, Indelicato DJ, Boop F, Klimo P, Sabin ND, Patay Z, Merchant TE…
• Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
  The Lancet. Oncology 2018 Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugières L, Jones DTW, Pajtler KW, Morrissy AS, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, …
• The landscape of genomic alterations across childhood cancers.
  Nature 2018 Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, …
• The whole-genome panorama of cancer drivers
  bioRxiv 2017 Sabarinathan R, Pich O, Martincorena I, Rubio-Perez C, Juul M, Wala J, Schumacher S, Shapira O, Sidiropoulos N, Waszak SM, Tamborero D, Mularoni L, Rheinbay E, Hornshøj H, Deu-Pons J, Muiños F, Bertl …
• The whole-genome landscape of medulloblastoma subtypes.
  Nature 2017 Northcott PA, Buchhalter I, Morrissy AS, Hovestadt V, Weischenfeldt J, Ehrenberger T, Gröbner S, Segura-Wang M, Zichner T, Rudneva VA, Warnatz HJ, Sidiropoulos N, Phillips AH, Schumacher S, Kleinheinz…
• Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking.
  Nature genetics 2016 Weischenfeldt J, Dubash T, Drainas AP, Mardin BR, Chen Y, Stütz AM, Waszak SM, Bosco G, Halvorsen AR, Raeder B, Efthymiopoulos T, Erkek S, Siegl C, Brenner H, Brustugun OT, Dieter SM, Northcott PA, …
• Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
  Molecular psychiatry 2016 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, …
• No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
  Human genetics 2016 Hutter S, Piro RM, Waszak SM, Kehrer-Sawatzki H, Friedrich RE, Lassaletta A, Witt O, Korbel JO, Lichter P, Schuhmann MU, Pfister SM, Tabori U, Mautner VF, Jones DTW
• Active medulloblastoma enhancers reveal subgroup-specific cellular origins.
  Nature 2016 Lin CY, Erkek S, Tong Y, Yin L, Federation AJ, Zapatka M, Haldipur P, Kawauchi D, Risch T, Warnatz HJ, Worst BC, Ju B, Orr BA, Zeid R, Polaski DR, Segura-Wang M, Waszak SM, Jones DT, Kool M, Hovestadt…
• A cell-based model system links chromothripsis with hyperploidy.
  Molecular systems biology 2015 Mardin BR, Drainas AP, Waszak SM, Weischenfeldt J, Isokane M, Stütz AM, Raeder B, Efthymiopoulos T, Buccitelli C, Segura-Wang M, Northcott P, Pfister SM, Lichter P, Ellenberg J, Korbel JO
• A dual program for translation regulation in cellular proliferation and differentiation.
  Cell 2014 Gingold H, Tehler D, Christoffersen NR, Nielsen MM, Asmar F, Kooistra SM, Christophersen NS, Christensen LL, Borre M, Sørensen KD, Andersen LD, Andersen CL, Hulleman E, Wurdinger T, Ralfkiær E, Helin …
• Identification of the transcription factor ZEB1 as a central component of the adipogenic gene regulatory network.
  eLife 2014 Gubelmann C, Schwalie PC, Raghav SK, Röder E, Delessa T, Kiehlmann E, Waszak SM, Corsinotti A, Udin G, Holcombe W, Rudofsky G, Trono D, Wolfrum C, Deplancke B
• A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders.
  Bipolar disorders 2014 Hammer C, Degenhardt F, Priebe L, Stütz AM, Heilmann S, Waszak SM, Schlattl A, Mangold E, Hoffmann P, Nöthen MM, Rietschel M, Rappold G, Korbel J, Cichon S, Niesler B, MooDS Consortium
• Rounding up natural gene expression variation during development.
  Developmental cell 2013 Waszak SM, Deplancke B
• A yeast one-hybrid and microfluidics-based pipeline to map mammalian gene regulatory networks.
  Molecular systems biology 2013 Gubelmann C, Waszak SM, Isakova A, Holcombe W, Hens K, Iagovitina A, Feuz JD, Raghav SK, Simicevic J, Deplancke B
• Personal receptor repertoires: olfaction as a model.
  BMC genomics 2012 Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ N, Wysocki CJ, Ge D, Lancet D
• Integrative genomics identifies the corepressor SMRT as a gatekeeper of adipogenesis through the transcription factors C/EBPβ and KAISO.
  Molecular cell 2012 Raghav SK, Waszak SM, Krier I, Gubelmann C, Isakova A, Mikkelsen TS, Deplancke B
• Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions.
  Genome research 2011 Schlattl A, Anders S, Waszak SM, Huber W, Korbel JO
• Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity.
  PLoS computational biology 2010 Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, Khen M, Stütz AM, Schlattl A, Lancet D, Korbel JO
• Variation in transcription factor binding among humans.
  Science (New York, N.Y.) 2010 Kasowski M, Grubert F, Heffelfinger C, Hariharan M, Asabere A, Waszak SM, Habegger L, Rozowsky J, Shi M, Urban AE, Hong MY, Karczewski KJ, Huber W, Weissman SM, Gerstein MB, Korbel JO, Snyder M