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Publications by Jay Shendure
Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism
JAMA Neurology
Neurology
Integration of Multiple Epigenomic Marks Improves Prediction of Variant Impact in Saturation Mutagenesis Reporter Assay
Human Mutation
Genetics
KIAA0586is Mutated in Joubert Syndrome
Human Mutation
Genetics
Novel Approach to Genetic Analysis and Results in 3000 Hemophilia Patients Enrolled in the My Life, Our Future Initiative
Blood advances
Hematology
Smash and DASH With Cas9
Genome Biology
Suppressor Mutations in Mecp2-Null Mice Reveal That the DNA Damage Response Is Key to Rett Syndrome Pathology
Preliminary Support for a 'Dry Swab, Extraction Free' Protocol for SARS-CoV-2 Testing via RT-qPCR
Extraordinary Molecular Evolution in the PRDM9 Fertility Gene
PLoS ONE
Multidisciplinary
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