Publications
Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 ;179(8):1665-1671.
. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 ;14(8):e1007504.
. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain. 2017 ;140(4):940-952.
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