Publications

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Author Title [ Year(Asc)]
Filters: Author is Crosby, Andrew H  [Clear All Filters]
2021
Rickman, O. J. et al. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord 82, 84-86 (2021).
2019
Yuan, B. et al. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
2018
Li, L. et al. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet 14, e1007504 (2018).
2017
Zollo, M. et al. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 140, 940-952 (2017).