Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

por Isabelle Schrauwen, Khurram Liaqat, Isabelle Schatteman, Thashi Bharadwaj, Abdul Nasir, Anushree Acharya, Wasim Ahmad, Guy Van Camp, Suzanne M. Leal
Publicado 2020-06-01

Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

por Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi Bharadwaj, Muhammad Ansar, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Publicado 2022-04-01

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit...

por Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen
Publicado 2017-04-01

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

por Ambroise Wonkam, Samuel Mawuli Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, Edmond Wonkam-Tingang, Kevin Esoh, Kalinka Popel, Noluthando Manyisa, Mario Jonas, Carmen deKock, Victoria Nembaware, Diana M. Cornejo Sanchez, Thashi Bharadwaj, Abdul Nasir, Jenna L. Everard, Magda K. Kadlubowska, Liz M. Nouel-Saied, Anushree Acharya, Osbourne Quaye, Geoffrey K. Amedofu, Gordon A. Awandare, Suzanne M. Leal
Publicado 2022-04-01