Associated Papers
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.
Bartolomaeus T et al.
European Journal of Human Genetics : Ejhg, 2023
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
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
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
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 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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