Bönnemann, Carsten G.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O’Grady, G. L., et al. (2017) · Science Translational Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 831

The Role of PIEZO2 in Human Mechanosensation

Chesler, A. T., Szczot, M., Bharucha-Goebel, D., Čeko, M., Donkervoort, S., Laubacher, C., Hayes, L. H., Alter, K., Zampieri, C., Stanley, C., et al. (2016) · New England Journal of Medicine

Tactile and Sensory InteractionsIon Channels and Receptors

Cited by 462

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Smith, R. S., Kenny, C. J., Ganesh, V., Jang, A., Borges-Monroy, R., Partlow, J. N., Hill, R. S., Shin, T., Chen, A. Y., Doan, R. N., et al. (2018) · Neuron

Ion channel regulation and functionEpilepsy research and treatment

Cited by 160

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., et al. (2014) · Human Molecular Genetics

Muscle Physiology and DisordersConnective tissue disorders research

Cited by 143

An ultrafast system for signaling mechanical pain in human skin

Nagi, S. S., Marshall, A. G., Makdani, A., Jarocka, E., Liljencrantz, J., Ridderström, M., Shaikh, S., O’Neill, F., Saade, D., Donkervoort, S., et al. (2019) · Science Advances

Pain Mechanisms and TreatmentsIon Channels and Receptors

Cited by 140

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Thorwarth, A., Schnittert-Hübener, S., Schrumpf, P., Müller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., et al. (2014) · Journal of Medical Genetics

Genomics and Rare DiseasesDevelopmental Biology and Gene Regulation

Cited by 115

Re:”Moving forward after two deaths in a gene therapy trial of myotubular myopathy” by Wilson and flotte

Shieh, P. B., Bönnemann, C. G., Müller-Felber, W., Blaschek, A., Dowling, J. J., Kuntz, N. L., & Seferian, A. M. (2020) · Human Gene Therapy

Virus-based gene therapy researchNeurogenetic and Muscular Disorders Research

Cited by 91

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, D. T., Donkervoort, S., Müller, J. S., Knierim, E., Bharucha-Goebel, D., Faqeih, E. A., Bell, S. K., AlFaifi, A. Y., Monies, D., Millan, F., et al. (2018) · The American Journal of Human Genetics

RNA Research and SplicingGenomics and Rare Diseases

Cited by 88

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 47

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

Punetha, J., Kesari, A., Hoffman, E. P., Gos, M., Kamińska, A., Kostera‐Pruszczyk, A., Hausmanowa‐Petrusewicz, I., Hu, Y., Zou, Y., Bönnemann, C. G., et al. (2017) · Muscle & Nerve

Connective tissue disorders researchMuscle Physiology and Disorders

Cited by 39

Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

Case, L. K., Liljencrantz, J., Madian, N., Necaise, A., Tubbs, J., McCall, M., Bradson, M. L., Szczot, M., Pitcher, M. H., Ghitani, N., et al. (2021) · Nature Communications

Tactile and Sensory InteractionsIon Channels and Receptors

Cited by 38

Myopathy in a 20‐year‐old female patient with D4ST‐1 deficient Ehlers‐Danlos syndrome due to a homozygous CHST14 mutation

Voermans, N. C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M. C., Bönnemann, C., van Engelen, B. G., & Hamel, B. C. (2012) · American Journal of Medical Genetics Part A

Connective tissue disorders researchMuscle Physiology and Disorders

Cited by 36