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Plos One|November 14, 2014
Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breedsIsabelle Schrauwen, Renee M Barber, Scott J Schatzberg, et al.
American Journal of Human Genetics|September 18, 2012
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairmentIsabelle Schrauwen, Sarah Helfmann, Akira Inagaki, et al.
Genes|November 27, 2021
A Monoallelic Variant in <i>REST</i> Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African FamilyNoluthando Manyisa, Isabelle Schrauwen, Leonardo Alves de Souza Rios, et al.
Human Mutation|November 22, 2018
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward SyndromeRabia Faridi, Risa Tona, Alessandra Brofferio, et al.
Communications Medicine|March 25, 2026
Exome sequencing identifies known and candidate genes in hearing impairment in CameroonAmbroise Wonkam, Edmond Wonkam-Tingang, Abdoulaye Yalcouyé, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 21, 2007
Association of bone morphogenetic proteins with otosclerosisIsabelle Schrauwen, Melissa Thys, Kathleen Vanderstraeten, et al.
Human Genetics|November 22, 2019
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)Lorida Llaci, Keri Ramsey, Newell Belnap, et al.
American Journal of Human Genetics|February 24, 2009
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosisIsabelle Schrauwen, Megan Ealy, Matthew J Huentelman, et al.
Investigative Ophthalmology & Visual Science|September 13, 2018
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis PigmentosaZahid Latif, Imen Chakchouk, Isabelle Schrauwen, et al.
F1000Research|July 1, 2017
Case Report: Novel mutations in <i>TBC1D24</i> are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilityErika Banuelos, Keri Ramsey, Newell Belnap, et al.
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