Jonathan Adkins

Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma

Mitesh J. Borad, Mia D. Champion, Jan B. Egan et al. · PLoS Genetics · 2014 · 342 citations · Full text

Medicine, Molecular Biology, Oncology +17

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Alzheimer's disease is associated with altered expression of genes involved in immune response and mitochondrial processes in astrocytes

Shobana Sekar, Jacquelyn McDonald, Lori Cuyugan et al. · Neurobiology of Aging · 2014 · 220 citations · Full text

Medicine, Neurobiology, Neuroscience +17

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Lijia Huang, Katarzyna Szymańska, Victor L. Jensen et al. · The American Journal of Human Genetics · 2011 · 200 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

Li Tai Fang, Bin Zhu, Yongmei Zhao et al. · Nature Biotechnology · 2021 · 149 citations · Full text

Life Sciences, Bioinformatics, Oncology +16