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Publications by Joseph G. Gleeson
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
American Journal of Human Genetics
Genetics
Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
American Journal of Human Genetics
Genetics
Mutations in LNPK , Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome
American Journal of Human Genetics
Genetics
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome With Cranio-Facial and Skeletal Defects
American Journal of Human Genetics
Genetics
Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
American Journal of Human Genetics
Genetics
Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
American Journal of Human Genetics
Genetics
Blacklisting Variants Common in Private Cohorts but Not in Public Databases Optimizes Human Exome Analysis
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
ExpandingCEP290mutational Spectrum in Ciliopathies
American Journal of Medical Genetics, Part A
Genetics
