Graham, Brett H.

Glial Lipid Droplets and ROS Induced by Mitochondrial Defects Promote Neurodegeneration

Liu, L., Zhang, K., Sandoval, H., Yamamoto, S., Jaiswal, M., Sanz, E., Li, Z., Hui, J., Graham, B. H., Quintana, A., et al. (2015) · Cell

Autophagy in Disease and TherapyMitochondrial Function and Pathology

Cited by 876

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 625

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

Sox9 and NFIA coordinate a transcriptional regulatory cascade during the initiation of gliogenesis

Kang, P., Lee, H. K., Glasgow, S. M., Finley, M., Donti, T., Gaber, Z. B., Graham, B. H., Foster, A. E., Novitch, B. G., Gronostajski, R. M., et al. (2012) · Neuron

Neurogenesis and neuroplasticity mechanismsDevelopmental Biology and Gene Regulation

Cited by 373

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 334

Marked changes in mitochondrial DNA deletion levels in Alzheimer brains

Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., McKee, A. C., Beal, M. F., Graham, B. H., & Wallace, D. C. (1994) · Genomics

Mitochondrial Function and PathologyAlzheimer's disease research and treatments

Cited by 309

Lessons learned from additional research analyses of unsolved clinical exome cases

Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., et al. (2017) · Genome Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 230

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 143

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

Dhar, S. U., del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., et al. (2010) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 138

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Szafranski, P., Schaaf, C. P., Person, R. E., Gibson, I. B., Xia, Z., Mahadevan, S., Wiszniewska, J., Bacino, C. A., Lalani, S., Potocki, L., et al. (2010) · Human Mutation

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 134

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

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit

Zhang, K., Li, Z., Jaiswal, M., Bayat, V., Xiong, B., Sandoval, H., Charng, W.-L., David, G., Haueter, C., Yamamoto, S., et al. (2013) · Journal of Cell Biology

Mitochondrial Function and PathologyHeat shock proteins research

Cited by 58

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency

Sadat, R., Barca, E., Masand, R., Donti, T. R., Naini, A., De Vivo, D. C., DiMauro, S., Hanchard, N. A., & Graham, B. H. (2016) · Molecular Genetics and Metabolism

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 38

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

Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism

Lancaster, M. S., Kim, B., Doud, E. H., Tate, M. D., Sharify, A. D., Gao, H., Chen, D., Simpson, E., Gillespie, P., Chu, X., et al. (2023) · Cell Reports

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 24