Published in Hum Genet on July 14, 2016
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Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial. Hum Genet (2016) 0.94
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Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am J Hum Genet (2013) 0.85
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A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. Hum Genet (2016) 0.82
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy. Genet Med (2016) 0.80
Characterizing the morbid genome of ciliopathies. Genome Biol (2016) 0.80
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Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Hum Genet (2016) 0.78
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. Genet Med (2017) 0.78
GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. Hum Genet (2016) 0.77
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract. Hum Genet (2016) 0.77
A null mutation in TNIK defines a novel locus for intellectual disability. Hum Genet (2016) 0.76
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Hum Genet (2015) 0.76
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans. Hum Genet (2016) 0.76
ADAT3-related intellectual disability: Further delineation of the phenotype. Am J Med Genet A (2016) 0.76
Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy. Hum Genet (2015) 0.75
Expanding the genetic heterogeneity of intellectual disability. Hum Genet (2017) 0.75
GWAS signals revisited using human knockouts. Genet Med (2017) 0.75
Treatment results in children with myeloid leukemia of Down syndrome in Saudi Arabia: A multicenter SAPHOS leukemia group study. Leuk Res (2017) 0.75
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation. Genome Biol (2017) 0.75
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. Hum Genet (2016) 0.75
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A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder. Brain (2017) 0.75
Joint laxity in homozygotes for severe POU1F1 mutations. Am J Med Genet A (2016) 0.75
Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat (2017) 0.75
ANKS3 is mutated in a family with autosomal recessive laterality defect. Hum Genet (2016) 0.75
Novel copy number variants and major limb reduction malformation: Report of three cases. Am J Med Genet A (2016) 0.75