Craigen, William J.

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., et al. (2014) · JAMA

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 1,360

Voltage-dependent anion channels are dispensable for mitochondrial-dependent cell death

Baines, C. P., Kaiser, R. A., Sheiko, T., Craigen, W. J., & Molkentin, J. D. (2007) · Nature Cell Biology

Cell death mechanisms and regulationMitochondrial Function and Pathology

Cited by 971

VDAC2 Inhibits BAK Activation and Mitochondrial Apoptosis

Cheng, E. H.-Y., Sheiko, T. V., Fisher, J. K., Craigen, W. J., & Korsmeyer, S. J. (2003) · Science

Cell death mechanisms and regulationMitochondrial Function and Pathology

Cited by 852

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 580

Expression of peptide chain release factor 2 requires high-efficiency frameshift

Craigen, W. J., & Caskey, C. T. (1986) · Nature

RNA and protein synthesis mechanismsBacterial Genetics and Biotechnology

Cited by 292

Bacterial peptide chain release factors: Conserved primary structure and possible frameshift regulation of release factor 2

Craigen, W. J., Cook, R. G., Tate, W. P., & Caskey, C. T. (1985) · Proceedings of the National Academy of Sciences

RNA and protein synthesis mechanismsBacterial Genetics and Biotechnology

Cited by 254

TSPO interacts with VDAC1 and triggers a ROS-mediated inhibition of mitochondrial quality control

Gatliff, J., East, D., Crosby, J., Abeti, R., Harvey, R., Craigen, W., Parker, P., & Campanella, M. (2014) · Autophagy

Autophagy in Disease and TherapyMitochondrial Function and Pathology

Cited by 215

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

Struys, E. A., Salomons, G. S., Achouri, Y., Van Schaftingen, E., Grosso, S., Craigen, W. J., Verhoeven, N. M., & Jakobs, C. (2005) · The American Journal of Human Genetics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 172

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction

Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 163

Inhibition of Bak Activation by VDAC2 Is Dependent on the Bak Transmembrane Anchor

Lazarou, M., Stojanovski, D., Frazier, A. E., Kotevski, A., Dewson, G., Craigen, W. J., Kluck, R. M., Vaux, D. L., & Ryan, M. T. (2010) · Journal of Biological Chemistry

Cell death mechanisms and regulationMitochondrial Function and Pathology

Cited by 111

MIRO-1 Determines Mitochondrial Shape Transition upon GPCR Activation and Ca2+ Stress

Nemani, N., Carvalho, E., Tomar, D., Dong, Z., Ketschek, A., Breves, S. L., Jaña, F., Worth, A. M., Heffler, J., Palaniappan, P., et al. (2018) · Cell Reports

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 111

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 110

Voltage-dependant anion channels: novel insights into isoform function through genetic models

Raghavan, A., Sheiko, T., Graham, B. H., & Craigen, W. J. (2012) · Biochimica et Biophysica Acta (BBA) - Biomembranes

Mitochondrial Function and PathologyIon channel regulation and function

Cited by 92

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27

Screen for abnormal mitochondrial phenotypes in mouse ES cells identifies model for Succinyl-CoA Ligase deficiency and mtDNA depletion

Donti, T. R., Stromberger, C., Ge, M., Eldin, K. W., Craigen, W. J., & Graham, B. H. (2013) · Disease Models & Mechanisms

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 25

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 19

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

Zhao, S., Sinson, J. C., Li, S., Rosenfeld, J. A., Zapata, G., Macakova, K., Pena, M., Maywald, B., Worley, K. C., Burrage, L. C., et al. (2025) · The American Journal of Human Genetics

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 5