Center-Authored Papers

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Journal Article
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, 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
Shih DJH, Northcott PA, Remke M, Korshunov A, Ramaswamy V, Kool M, Luu B, Yao Y, Wang X, Dubuc AM et al..  2014.  Cytogenetic Prognostication Within Medulloblastoma Subgroups.. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 32(9):886-96. 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
Northcott PA, Shih DJH, Peacock J, Garzia L, Morrissy SA, Zichner T, Stütz AM, Korshunov A, Reimand J, Schumacher SE et al..  2012.  Subgroup-specific structural variation across 1,000 medulloblastoma genomes.. Nature. 488(7409):49-56. Abstract