Center-Authored Papers

Filters: Author is Santos-Cortez, Regie Lyn P  [Clear All Filters]
2014
Rehman AU, Santos-Cortez RLP, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A et al..  2014.  Challenges and solutions for gene identification in the presence of familial locus heterogeneity.. European journal of human genetics : EJHG. Abstract
Santos-Cortez RLP, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R et al..  2014.  Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.. Human molecular genetics. Abstract
Rehman AU, Santos-Cortez RLP, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MAR, Wasif N, Ayub M et al..  2014.  Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86.. American journal of human genetics. 94(1):144-52. Abstract
He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RLP, Li B, Kan M, Krumm N, Nickerson DA et al..  2014.  Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.. American journal of human genetics. 94(1):33-46. Abstract
2015
Regalado ES, Guo D-chuan, Santos-Cortez RLP, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP et al..  2015.  Pathogenic FBN1 Variants in Familial Thoracic Aortic Aneurysms and Dissections.. Clinical genetics. Abstract
Ansar M, Jan A, Santos-Cortez RLP, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K et al..  2015.  Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.. European journal of human genetics : EJHG. Abstract
Ansar M, Santos-Cortez RLP, Saqib MAN, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS et al..  2015.  Mutation of ATF6 causes autosomal recessive achromatopsia.. Human genetics. Abstract
Santos-Cortez RLP, Chiong CM, Reyes-Quintos MRT, Tantoco MLC, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen KE et al..  2015.  Rare A2ML1 variants confer susceptibility to otitis media.. Nature genetics. Abstract
Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RLP, Muhammad D, Ali M, Zia M, Ayub M, Khan S et al..  2015.  Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.. International journal of dermatology. Abstract