Ganeshwaran Mochida, M.D.
Affiliations: | Genetics and Genomics | Harvard Medical School - Boston Children's Hospital |
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Parents
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Sign in to add trainee| Malak El-Quessny | research assistant | 2013-2015 | Harvard Medical School - Boston Children's Hospital |
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Publications
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| Akula SK, Chen AY, Neil JE, et al. (2023) Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. Jama Neurology |
| Tepe B, Macke EL, Niceta M, et al. (2023) Bi-allelic variants in INTS11 are associated with a complex neurological disorder. American Journal of Human Genetics |
| Haag N, Tan EC, Begemann M, et al. (2021) Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. European Journal of Human Genetics : Ejhg |
| Daly T, Roberts A, Yang E, et al. (2019) Holoprosencephaly in Kabuki syndrome. American Journal of Medical Genetics. Part A |
| Link N, Chung H, Jolly A, et al. (2019) Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Developmental Cell |
| Khalil R, Kenny C, Hill RS, et al. (2018) PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics |
| Coulter ME, Dorobantu CM, Lodewijk GA, et al. (2018) The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Reports. 24: 973-986.e8 |
| Evrony GD, Cordero DR, Shen J, et al. (2017) Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Research |
| Nakayama T, Wu J, Galvin-Parton P, et al. (2017) Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Human Mutation |
| Jayaraman D, Kodani A, Gonzalez DM, et al. (2016) Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 92: 813-828 |