Harms, Matthew B.

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,434

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,727

A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,037

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 966

Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons

Nakayama, A. Y., Harms, M. B., & Luo, L. (2000) · The Journal of Neuroscience

Neuroscience and Neuropharmacology ResearchProtein Kinase Regulation and GTPase Signaling

Cited by 708

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

Sareen, D., O’Rourke, J. G., Meera, P., Muhammad, A. K. M. G., Grant, S., Simpkinson, M., Bell, S., Carmona, S., Ornelas, L., Sahabian, A., et al. (2013) · Science Translational Medicine

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 670

C9orf72 is required for proper macrophage and microglial function in mice

O’Rourke, J. G., Bogdanik, L., Yáñez, A., Lall, D., Wolf, A. J., Muhammad, A. K. M. G., Ho, R., Carmona, S., Vit, J. P., Zarrow, J., et al. (2016) · Science

Amyotrophic Lateral Sclerosis ResearchNeuroinflammation and Neurodegeneration Mechanisms

Cited by 550

C9orf72 in myeloid cells suppresses STING-induced inflammation

McCauley, M. E., O’Rourke, J. G., Yáñez, A., Markman, J. L., Ho, R., Wang, X., Chen, S., Lall, D., Jin, M., Muhammad, A. K. M. G., et al. (2020) · Nature

Amyotrophic Lateral Sclerosis Researchinterferon and immune responses

Cited by 298

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

O’Rourke, J. G., Bogdanik, L., Muhammad, A. K. M. G., Gendron, T. F., Kim, K. J., Austin, A., Cady, J., Liu, E. Y., Zarrow, J., Grant, S., et al. (2015) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 298

TREM2 Variant p.R47H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis

Cady, J., Koval, E. D., Benitez, B. A., Zaidman, C., Jockel-Balsarotti, J., Allred, P., Baloh, R. H., Ravits, J., Simpson, E., Appel, S. H., et al. (2014) · JAMA Neurology

Amyotrophic Lateral Sclerosis ResearchNeuroinflammation and Neurodegeneration Mechanisms

Cited by 262

C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease

Harms, M., Benitez, B. A., Cairns, N., Cooper, B., Cooper, P., Mayo, K., Carrell, D., Faber, K., Williamson, J., Bird, T., et al. (2013) · JAMA Neurology

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

Cited by 102

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Bucelli, R. C., Arhzaouy, K., Pestronk, A., Pittman, S. K., Rojas, L., Sue, C. M., Evilä, A., Hackman, P., Udd, B., Harms, M. B., et al. (2015) · Neurology

Muscle Physiology and DisordersAmyotrophic Lateral Sclerosis Research

Cited by 92

Genetics of Amyotrophic Lateral Sclerosis

Gregory, J. M., Fagegaltier, D., Phatnani, H., & Harms, M. B. (2020) · Current Genetic Medicine Reports

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 83