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Publications by Sri V.V. Deevi
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
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Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
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Bi-Allelic Missense ABCA3 Mutations in a Patient With Childhood ILD Who Reached Adulthood
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Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases
Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing
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Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
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Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
American Journal of Human Genetics
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Progressive Myoclonus Epilepsy Caused by a Gain-Of-Function KCNA2 Mutation
Seizure : the journal of the British Epilepsy Association
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Bi‐allelic Loss of FAM46C Triggers Tumor Growth With Concomitant Activation of Akt Signaling in Multiple Myeloma Cells
Cancer Science
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