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Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

Khurram Liaqat
Isabelle Schrauwen
Suzanne M. Leal
Research30 Nov 2018
Journal of Human Genetics

Volume: 64, P: 153-160
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

Muhammad Ansar
Abid Jan
Suzanne M Leal
Research23 Dec 2015
European Journal of Human Genetics

Volume: 24, P: 1223-1227
Rare A2ML1 variants confer susceptibility to otitis media

Regie Lyn Santos-Cortez and colleagues identify a duplication variant within A2ML1 that cosegregates with otitis media in an indigenous Filipino pedigree. They also identify seven additional A2ML1 variants in otitis-prone children.

Regie Lyn P Santos-Cortez
Charlotte M Chiong
Suzanne M Leal
Research29 Jun 2015
Nature Genetics

Volume: 47, P: 917-920