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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
2016English

Integration of Multiple Epigenomic Marks Improves Prediction of Variant Impact in Saturation Mutagenesis Reporter Assay

Human Mutation
Genetics
2019English

KIAA0586is Mutated in Joubert Syndrome

Human Mutation
Genetics
2015English

Novel Approach to Genetic Analysis and Results in 3000 Hemophilia Patients Enrolled in the My Life, Our Future Initiative

Blood advances
Hematology
2017English

Smash and DASH With Cas9

Genome Biology
2016English

Suppressor Mutations in Mecp2-Null Mice Reveal That the DNA Damage Response Is Key to Rett Syndrome Pathology

2019English

Preliminary Support for a 'Dry Swab, Extraction Free' Protocol for SARS-CoV-2 Testing via RT-qPCR

2020English

Extraordinary Molecular Evolution in the PRDM9 Fertility Gene

PLoS ONE
Multidisciplinary
2009English
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