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Publications by Shrikant Mane

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics

English

Exome Sequencing Identifies Recurrent Somatic RAC1 Mutations in Melanoma

Nature Genetics

English

L-Histidine Decarboxylase and Tourette's Syndrome

New England Journal of Medicine

English

Spatio-Temporal Transcriptome of the Human Brain

Multidisciplinary

English

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

English

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

English

Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

American Journal of Human Genetics

English

Isolated Polycystic Liver Disease Genes Define Effectors of Polycystin-1 Function

Journal of Clinical Investigation

English

Neomorphic Effects of Recurrent Somatic Mutations inYin Yang 1in Insulin-Producing Adenomas

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Mutations in KIRREL1, a Slit Diaphragm Component, Cause Steroid-Resistant Nephrotic Syndrome

Kidney International

English