Isabelle Schrauwen
36PUBLICATIONS
96CO-AUTHORS
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Publications (36)
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|Jan 29, 2026
Novel Variants Identified in Families With SNX27 -Related Neurodevelopmental Disorder, Aiding in Characterizing Its Genotypic and Phenotypic Spectrum.Tayyaba Shan, Abrar Hussain, Anushree Acharya
|Apr 17, 2025
Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss.Elvis Twumasi Aboagye, Samuel Mawuli Adadey, Leonardo Alves de Souza Rios
|Feb 05, 2025
A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa.Saira Sattar, Thashi Bharadwaj, Umm-E- Kalsoom
|May 16, 2024
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya
|May 07, 2024
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.Irma Järvelä, Ritva Paetau, Yasmin Rajendran
|Nov 17, 2023
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.Tommi Salokivi, Riitta Parkkola, Yasmin Rajendran
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Frequent Collaborators
7 joint publications
Thashi Bharadwaj
6 joint publications
Abdul Nasir
6 joint publications
Suzanne M Leal
5 joint publications
Ambroise Wonkam
4 joint publications
Anushree Acharya
3 joint publications
Liz M Nouel-Saied
3 joint publications
Rabia Faridi
3 joint publications
Irma Järvelä
3 joint publications
Samuel Mawuli Adadey
3 joint publications
Thomas B Friedman
