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Cerebellum (London, England)|April 15, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National StudyDilek Cavusoglu, Gulten Ozturk, Dilsad Turkdogan, et al.Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.Brain : a Journal of Neurology|April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.European Journal of Human Genetics : EJHG|September 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probandsAllan Bayat, Maria Carla Borroto, Smrithi Salian, et al.American Journal of Human Genetics|November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.American Journal of Human Genetics|June 15, 2007
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati, Giuseppe Barrano, Jennifer L Silhavy, et al.Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.Annals of Neurology|September 5, 2018
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia SyndromeAlicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, et al.American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.Pageof 31