Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Obesity Characteristics Are Poor Predictors of Genetic Mutations Associated with Obesity.
Al-Humadi AW et al.
Journal of Clinical Medicine, 2023
37835041 (PubMed )
Supplement: jcm-12-06396-s001.zip › jcm-2584407-supplementary.pdf
Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations.
Ren ZL et al.
Zoological Research, 2022
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Carrigan M et al.
Scientific Reports, 2016
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Braun DA et al.
Kidney International, 2016
26489029 (PubMed )
Supplement: NIHMS723233-supplement-01.pdf
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
Schaefer E et al.
Molecular Syndromology, 2011
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Otto EA et al.
Nature Genetics, 2010
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