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1. Mechanisms and therapeutic targeting of NT5C2 mutations in relapsed acute lymphoblastic leukemia

Dieck, Chelsea
2019
Theses
BiochemistryLymphoblastic leukemiaDrug resistanceOncologyMutation (Biology)Molecular biology

2. Population Genetics of Mutation Load and Quantitative Traits in Humans

Simons, Yuval Benjamin
2019
Theses
GeneticsBiologyHuman population geneticsMutation (Biology)

3. A role for the unfolded protein response stress sensor ERN1 in regulating the response to MEK inhibitors in KRAS mutant colon cancers

Šuštić, Tonći; van Wageningen, Sake; Bosdriesz, Evert; Reid, Robert J. D.; Dittmar, John; Lieftink, Cor; Beijersbergen, Roderick L.; Wessels, Lodewyk F. A.; Rothstein, Rodney; Bernards, René
2018
Articles
Mutation (Biology)Colon (Anatomy)--CancerGenomicsMolecular biology

4. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome

Hoff, Kirsten E.; DeBalsi, Karen L.; Sanchez Quintero, Maria Jose; Longley, Matthew J.; Hirano, Michio; Naini, Ali B.; Copeland, William C.
2018
Articles
Mitochondrial DNAMutation (Biology)CytologyBiochemistryFibroblasts

5. Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

Liu, Katherine Y.; Sengillo, Jesse D.; Velez, Gabriel; Jauregui, Ruben; Sakai, Lynn Y.; Maumenee, Irene H.; Bassuk, Alexander G.; Mahajan, Vinit B.; Tsang, Stephen H.
2018
Articles
OphthalmologyMyopiaAnisometropiaMutation (Biology)Connective tissuesObesity

6. Parkinson’s disease-linked Parkin mutations impair glutamatergic signaling in hippocampal neurons

Zhu, Mei; Cortese, Giuseppe P.; Waites, Clarissa L.
2018
Articles
BiologyNeurosciencesParkinson's diseaseSynapsesMutation (Biology)

7. Symbiont interactions with non-native hosts limit the formation of new symbioses

Niepoth, Natalie; Ellers, Jacintha; Henry, Lee M.
2018
Articles
Mutation (Biology)SymbiosisEvolution (Biology)Ecology

8. Systematic reconstruction of autism biology from massive genetic mutation profiles

Luo, Weijun; Zhang, Chaolin; Jiang, Yong-hui; Brouwer, Cory R.
2018
Articles
Mutation (Biology)Developmental geneticsAutism--ResearchAutism spectrum disorders--Genetic aspectsSystems biology

9. The generation and phenotypic effect of human genetic mutations

Chen, Chen
2018
Theses
BioinformaticsComputer scienceMutation (Biology)Human genetics--VariationMachine learning

10. A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

Zhu, Xiaolin; Padmanabhan, Raghavendra; Copeland, Brett; Bridgers, Joshua S.; Ren, Zhong; Kamalakaran, Sitharthan; O’Driscoll-Collins, Ailbhe; Berkovic, Samuel F.; Scheffer, Ingrid E.; Poduri, Annapurna; Mei, Davide; Guerrini, Renzo; Lowenstein, Daniel H.; Allen, Andrew S.; Heinzen, Erin L.; Goldstein, David B.
2017
Articles
Epilepsy--Genetic aspectsMutation (Biology)Nucleotide sequenceGenetics
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