Cecilia Zander-Soussi

Uppsala, C, Sweden

Last Updated: 09/26/2026

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Found 8 publications

Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registry.

Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registry.

Journal: BMC global and public health
Published: December 27, 2025

Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay.

Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay.

Journal: Molecular genetics & genomic medicine
Published: March 16, 2023

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.

Journal: Journal of medical genetics
Published: July 04, 2022

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.

Journal: Clinical genetics
Published: September 14, 2018

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.

Journal: Clinical genetics
Published: March 04, 2016

Mutations in HECW2 are associated with intellectual disability and epilepsy.

Mutations in HECW2 are associated with intellectual disability and epilepsy.

Journal: Journal of medical genetics
Published: February 02, 2016

Beckwith-Wiedemann Syndrome Revisited.

Beckwith-Wiedemann Syndrome Revisited.

Journal: Human mutation
Published: August 14, 2015

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

Journal: American journal of medical genetics. Part A
Published: December 21, 2011
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Last Updated: 09/26/2026