Delineating the <i>GRIN1</i> phenotypic spectrum
2016 · Neurology · 202 citations
https://doi.org/10.1212/wnl.0000000000002740
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Isabelle Schrauwen
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Isabelle Schrauwen is an academic researcher from University of Arizona. The author has contributed to research in topics: Hearing, Cochlea, Tinnitus, Genetics & Genetics and Neurodevelopmental Disorders & Ear Surgery and Otitis Media. The author has an h-index of 34, co-authored 144 publications.
ORCID: 0000-0001-7310-6082Papers by this author
worksExome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
2021 · Human Genetics · 51 citations
https://doi.org/10.1007/s00439-021-02268-1
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
2021 · Genetics in Medicine · 34 citations
https://doi.org/10.1038/s41436-021-01246-2
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment
2018 · BMC Medical Genetics · 27 citations
https://doi.org/10.1186/s12881-018-0618-5
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma
2019 · European Journal of Human Genetics · 14 citations
https://doi.org/10.1038/s41431-019-0372-y
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment
2021 · Journal of Human Genetics · 14 citations
https://doi.org/10.1038/s10038-021-00954-6
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