A brunette man with a beard smiling

Maximilian Horlbeck, MD, PhD

Instructor in Pediatrics, Boston Children's Hospital
Horlbeck Lab

The Horlbeck lab studies Chromatinopathies, a large class of genetic disorders in which disruption of chromatin modifying machinery leads to developmental delay and intellectual disability. The lab seeks to understand how chromatin regulation shapes cell fate decisions and identify paths to treatment for these disorders. Approaches include high-throughput genetic screening, genetic interaction mapping, and single cell epigenomics in iPSC-derived models. They also aim to develop new approaches to address the genetic phenomena of incomplete penetrance and variable expressivity that characterize these and other human genetic disorders.

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.
Authors: Authors: Frazier ZJ, Kilic S, Osika H, Mo A, Quinn M, Ballal S, Katz T, Shearer AE, Horlbeck MA, Pais LS, Dies KA, O'Donnell-Luria A, Kossowsky J, Lipton JO, Kleefstra T, Srivastava S.
Clin Genet
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Multiscale footprints reveal the organization of cis-regulatory elements.
Authors: Authors: Hu Y, Horlbeck MA, Zhang R, Ma S, Shrestha R, Kartha VK, Duarte FM, Hock C, Savage RE, Labade A, Kletzien H, Meliki A, Castillo A, Durand NC, Mattei E, Anderson LJ, Tay T, Earl AS, Shoresh N, Epstein CB, Wagers AJ, Buenrostro JD.
Nature
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FET fusion oncoproteins disrupt physiologic DNA repair networks in cancer.
Authors: Authors: Menon S, Gracilla D, Breese MR, Lin YP, Cruz FD, Feinberg T, de Stanchina E, Galic AF, Allegakoen H, Perati S, Wen N, Heslin A, Horlbeck MA, Weissman J, Sweet-Cordero EA, Bivona TG, Tulpule A.
bioRxiv
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CRISPRi screens identify the lncRNA, LOUP, as a multifunctional locus regulating macrophage differentiation and inflammatory signaling.
Authors: Authors: Halasz H, Malekos E, Covarrubias S, Yitiz S, Montano C, Sudek L, Katzman S, Liu SJ, Horlbeck MA, Namvar L, Weissman JS, Carpenter S.
Proc Natl Acad Sci U S A
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FET fusion oncoproteins disrupt physiologic DNA repair networks and induce ATR synthetic lethality in cancer.
Authors: Authors: Menon S, Breese MR, Lin YP, Allegakoen H, Perati S, Heslin A, Horlbeck MA, Weissman J, Sweet-Cordero EA, Bivona TG, Tulpule A.
Res Sq
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Single-cell multi-scale footprinting reveals the modular organization of DNA regulatory elements.
Authors: Authors: Hu Y, Ma S, Kartha VK, Duarte FM, Horlbeck M, Zhang R, Shrestha R, Labade A, Kletzien H, Meliki A, Castillo A, Durand N, Mattei E, Anderson LJ, Tay T, Earl AS, Shoresh N, Epstein CB, Wagers A, Buenrostro JD.
bioRxiv
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GATOR2-dependent mTORC1 activity is a therapeutic vulnerability in FOXO1 fusion-positive rhabdomyosarcoma.
Authors: Authors: Morales J, Allegakoen DV, Garcia JA, Kwong K, Sahu PK, Fajardo DA, Pan Y, Horlbeck MA, Weissman JS, Gustafson WC, Bivona TG, Sabnis AJ.
JCI Insight
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Dual genome-wide coding and lncRNA screens in neural induction of induced pluripotent stem cells.
Authors: Authors: Wu D, Poddar A, Ninou E, Hwang E, Cole MA, Liu SJ, Horlbeck MA, Chen J, Replogle JM, Carosso GA, Eng NWL, Chang J, Shen Y, Weissman JS, Lim DA.
Cell Genom
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Genome-wide CRISPRi screening identifies OCIAD1 as a prohibitin client and regulatory determinant of mitochondrial Complex III assembly in human cells.
Authors: Authors: Le Vasseur M, Friedman J, Jost M, Xu J, Yamada J, Kampmann M, Horlbeck MA, Salemi MR, Phinney BS, Weissman JS, Nunnari J.
Elife
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High-content imaging-based pooled CRISPR screens in mammalian cells.
Authors: Authors: Yan X, Stuurman N, Ribeiro SA, Tanenbaum ME, Horlbeck MA, Liem CR, Jost M, Weissman JS, Vale RD.
J Cell Biol
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