Publications

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Author Title [ Year(Asc)]
Filters: Author is Santos-Cortez, Regie Lyn P and Keyword is Phenotype  [Clear All Filters]
2019
Ullah, I. et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
2016
Santos-Cortez, R. Lyn P. et al. Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet 98, 331-8 (2016).
Ansar, M. et al. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet 24, 1223-7 (2016).
Shah, K. et al. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. BMC Med Genet 17, 13 (2016).
Ullah, R. et al. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. Int J Dermatol 55, 524-30 (2016).
2015
Rehman, A. U. et al. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 23, 1207-15 (2015).
Ansar, M. et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet 134, 941-50 (2015).
2014
Rehman, A. U. et al. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet 94, 144-52 (2014).
He, Z. et al. Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet 94, 33-46 (2014).