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.

Genome-Scale Perturbation of Long Noncoding RNA Expression Using CRISPR Interference.
Authors: Authors: Liu SJ, Horlbeck MA, Weissman JS, Lim DA.
Methods Mol Biol
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Pharmaceutical-Grade Rigosertib Is a Microtubule-Destabilizing Agent.
Authors: Authors: Jost M, Chen Y, Gilbert LA, Horlbeck MA, Krenning L, Menchon G, Rai A, Cho MY, Stern JJ, Prota AE, Kampmann M, Akhmanova A, Steinmetz MO, Tanenbaum ME, Weissman JS.
Mol Cell
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Fitness effects of CRISPR/Cas9-targeting of long noncoding RNA genes.
Authors: Authors: Horlbeck MA, Liu SJ, Chang HY, Lim DA, Weissman JS.
Nat Biotechnol
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CRISPRi-based radiation modifier screen identifies long non-coding RNA therapeutic targets in glioma.
Authors: Authors: Liu SJ, Malatesta M, Lien BV, Saha P, Thombare SS, Hong SJ, Pedraza L, Koontz M, Seo K, Horlbeck MA, He D, Birk HS, Jain M, Olsen HE, Akeson M, Weissman JS, Monje M, Gupta N, Raleigh DR, Ullian EM, Lim DA.
Genome Biol
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Titrating gene expression using libraries of systematically attenuated CRISPR guide RNAs.
Authors: Authors: Jost M, Santos DA, Saunders RA, Horlbeck MA, Hawkins JS, Scaria SM, Norman TM, Hussmann JA, Liem CR, Gross CA, Weissman JS.
Nat Biotechnol
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New factors for protein transport identified by a genome-wide CRISPRi screen in mammalian cells.
Authors: Authors: Bassaganyas L, Popa SJ, Horlbeck M, Puri C, Stewart SE, Campelo F, Ashok A, Butnaru CM, Brouwers N, Heydari K, Ripoche J, Weissman J, Rubinsztein DC, Schekman R, Malhotra V, Moreau K, Villeneuve J.
J Cell Biol
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Exploring genetic interaction manifolds constructed from rich single-cell phenotypes.
Authors: Authors: Norman TM, Horlbeck MA, Replogle JM, Ge AY, Xu A, Jost M, Gilbert LA, Weissman JS.
Science
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Cellular response to small molecules that selectively stall protein synthesis by the ribosome.
Authors: Authors: Liaud N, Horlbeck MA, Gilbert LA, Gjoni K, Weissman JS, Cate JHD.
PLoS Genet
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Mapping the Genetic Landscape of Human Cells.
Authors: Authors: Horlbeck MA, Xu A, Wang M, Bennett NK, Park CY, Bogdanoff D, Adamson B, Chow ED, Kampmann M, Peterson TR, Nakamura K, Fischbach MA, Weissman JS, Gilbert LA.
Cell
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A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure.
Authors: Authors: Mendelsohn BA, Bennett NK, Darch MA, Yu K, Nguyen MK, Pucciarelli D, Nelson M, Horlbeck MA, Gilbert LA, Hyun W, Kampmann M, Nakamura JL, Nakamura K.
PLoS Biol
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