Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.
Yan X et al.
Journal of Medical Genetics, 2024
38296632 (PubMed )
Supplement: jmg-2023-109579supp006.pdf
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report.
Fang JX et al.
World Journal of Clinical Cases, 2022
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Jourdain AS et al.
Human Mutation, 2020
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.
Miller EM et al.
American Journal of Medical Genetics. Part A, 2012
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Botzenhart EM et al.
Human Mutation, 2007
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.
Böhm J et al.
American Journal of Medical Genetics. Part A, 2006
Novel mutation in the MYOC gene in primary open glaucoma patients.
Vasconcellos JP et al.
Journal of Medical Genetics, 2000
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.
Salerno A et al.
Pediatric Nephrology (berlin, Germany), 2000
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase J et al.
American Journal of Human Genetics, 1999
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