Gil Bejerano, Professor
Affiliations: | CS | Stanford University, Palo Alto, CA |
Area:
Computational BiologyGoogle:
"Gil Bejerano"Cross-listing: Neurotree
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Publications
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| Birgmeier J, Haeussler M, Deisseroth CA, et al. (2020) AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Science Translational Medicine. 12 |
| Marcovitz A, Turakhia Y, Chen HI, et al. (2019) A functional enrichment test for molecular convergent evolution finds a clear protein-coding signal in echolocating bats and whales. Proceedings of the National Academy of Sciences of the United States of America |
| Berger MJ, Wenger AM, Guturu H, et al. (2018) Independent erosion of conserved transcription factor binding sites points to shared hindlimb, vision and external testes loss in different mammals. Nucleic Acids Research |
| Chen HI, Jagadeesh KA, Birgmeier J, et al. (2018) An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease. European Journal of Human Genetics : Ejhg |
| Jagadeesh KA, Birgmeier J, Guturu H, et al. (2018) Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Birgmeier J, Esplin ED, Jagadeesh KA, et al. (2018) Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. American Journal of Medical Genetics. Part A. 176: 1030-1036 |
| Alcantara D, Timms AE, Gripp K, et al. (2017) Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain : a Journal of Neurology. 140: 2610-2622 |
| Jagadeesh KA, Wenger AM, Berger MJ, et al. (2016) M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nature Genetics |
| Balasubramanian M, Lord H, Levesque S, et al. (2016) Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of Medical Genetics |
| Wenger AM, Guturu H, Bernstein JA, et al. (2016) Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. Genetics in Medicine : Official Journal of the American College of Medical Genetics |