Associated Papers
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
Ambrozkiewicz MC et al.
Molecular Psychiatry, 2021
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Zaki MS et al.
American Journal of Medical Genetics. Part A, 2020
Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases.
Ambrozkiewicz MC et al.
Cells, 2020
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
Kariminejad A et al.
Journal of Human Genetics, 2017
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
Pedurupillay CR et al.
American Journal of Medical Genetics. Part A, 2015
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
Basel-Vanagaite L et al.
Human Genetics, 2014
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