Straub, Volker

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

Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies

Michele, D. E., Barresi, R., Kanagawa, M., Saito, F., Cohn, R. D., Satz, J. S., Dollar, J., Nishino, I., Kelley, R. I., Somer, H., et al. (2002) · Nature

Muscle Physiology and DisordersGlycosylation and Glycoproteins Research

Cited by 779

Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., et al. (2001) · Developmental Cell

Glycosylation and Glycoproteins ResearchMuscle Physiology and Disorders

Cited by 706

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

Animal models for muscular dystrophy show different patterns of sarcolemmal disruption

Straub, V., Rafael, J. A., Chamberlain, J. S., & Campbell, K. P. (1997) · The Journal of Cell Biology

Muscle Physiology and DisordersCardiomyopathy and Myosin Studies

Cited by 488

A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy

Wagner, K. R., Fleckenstein, J. L., Amato, A. A., Barohn, R. J., Bushby, K., Escolar, D. M., Flanigan, K. M., Pestronk, A., Tawil, R., Wolfe, G. I., et al. (2008) · Annals of Neurology

Muscle Physiology and DisordersNeurogenetic and Muscular Disorders Research

Cited by 481

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., et al. (2007) · Brain

Muscle Physiology and DisordersGlycosylation and Glycoproteins Research

Cited by 441

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

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

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 131

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Hicks, D., Farsani, G. T., Laval, S., Collins, J., Sarkozy, A., Martoni, E., Shah, A., Zou, Y., Koch, M., Bonnemann, C. G., et al. (2014) · Human Molecular Genetics

Muscle Physiology and DisordersConnective tissue disorders research

Cited by 111

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 30