Cecilia Soussi Zander

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

Thuresson, Ann-Charlotte; Brazina, Jan; Akram, Talia; Albrecht, Julia et al.

Part of Molecular Genetics & Genomic Medicine, 2024

• DOI for Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Celse, Tristan; Tingaud-Sequeira, Angèle; Dieterich, Klaus; Siegfried, Geraldine et al.

Part of Journal of Medical Genetics, p. 620-626, 2023

• DOI for OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Proximal Deletion 12q with a New Insight to Growth Retardation

Sobol, Maria; Thuresson, Ann-Charlotte; Palmberg, Nathalie; Zander, Cecilia Soussi

Part of Molecular Syndromology, p. 115-124, 2020

• DOI for Proximal Deletion 12q with a New Insight to Growth Retardation
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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

Thuresson, Ann-Charlotte; Zander, Cecilia; Zhao, Jin James; Halvardson, Jonatan et al.

Part of Clinical Genetics, p. 436-439, 2019

• DOI for Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
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Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

Zhao, Jin James; Halvardson, Jonatan; Zander, Cecilia; Zaghlool, Ammar et al.

Part of American Journal of Medical Genetics Part B, p. 10-20, 2018

• DOI for Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
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Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

Thuresson, Ann-Charlotte; Brazina, Jan; Akram, Talia; Albrecht, Julia et al.

Part of Molecular Genetics & Genomic Medicine, 2024

• DOI for Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Celse, Tristan; Tingaud-Sequeira, Angèle; Dieterich, Klaus; Siegfried, Geraldine et al.

Part of Journal of Medical Genetics, p. 620-626, 2023

• DOI for OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Proximal Deletion 12q with a New Insight to Growth Retardation

Sobol, Maria; Thuresson, Ann-Charlotte; Palmberg, Nathalie; Zander, Cecilia Soussi

Part of Molecular Syndromology, p. 115-124, 2020

• DOI for Proximal Deletion 12q with a New Insight to Growth Retardation
• Download full text (pdf) of Proximal Deletion 12q with a New Insight to Growth Retardation

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

Thuresson, Ann-Charlotte; Zander, Cecilia; Zhao, Jin James; Halvardson, Jonatan et al.

Part of Clinical Genetics, p. 436-439, 2019

• DOI for Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
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Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

Zhao, Jin James; Halvardson, Jonatan; Zander, Cecilia; Zaghlool, Ammar et al.

Part of American Journal of Medical Genetics Part B, p. 10-20, 2018

• DOI for Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
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Whole-gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

Thuresson, Ann-Charlotte; Van Buggenhout, Griet; Sheth, Frenny; Kamate, Mahesh et al.

Part of Clinical Genetics, p. 106-110, 2017

• DOI for Whole-gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

Mutations in HECW2 are associated with intellectual disability and epilepsy

Halvardson, Jonatan; Zhao, Jin J.; Zaghlool, Ammar; Wentzel, Christian et al.

Part of Journal of Medical Genetics, p. 697-704, 2016

• DOI for Mutations in HECW2 are associated with intellectual disability and epilepsy
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Beckwith-Wiedemann Syndrome Revisited.

Zander, Cecilia Soussi

Part of Human Mutation, 2015

• DOI for Beckwith-Wiedemann Syndrome Revisited.

Changes in mortality and causes of death in the Swedish Down syndrome population

Englund, Annika; Jonsson, Björn; Zander, Cecilia Soussi; Gustafsson, Jan et al.

Part of American Journal of Medical Genetics. Part A, p. 642-649, 2013

• DOI for Changes in mortality and causes of death in the Swedish Down syndrome population

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

Thierry, Gaelle; Beneteau, Claire; Pichon, Olivier; Flori, Elisabeth et al.

Part of American Journal of Medical Genetics. Part A, p. 1633-1640, 2012

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

A cloning strategy for identification of genes containing trinucleotide repeat expansions

Yuan, Q.-P.; Lindblad-Toh, Kerstin; Zander, Cecilia; Burgess, C. et al.

Part of International Journal of Molecular Medicine, p. 427-431, 2001

• DOI for A cloning strategy for identification of genes containing trinucleotide repeat expansions

Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3

Zander, C; Takahashi, J; El Hachimi, K H; Fujigasaki, H et al.

Part of Human Molecular Genetics, p. 2569-2579, 2001

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family.

Fujigasaki, H; Verma, I C; Camuzat, A; Margolis, R L et al.

Part of Ann Neurol, p. 117-21, 2001

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.

Lebre, A S; Jamot, L; Takahashi, J; Spassky, N et al.

Part of Hum Mol Genet, p. 1201-13, 2001

Distribution of ataxin-7 in normal human brain and retina.

Cancel, G; Duyckaerts, C; Holmberg, M; Zander, C et al.

Part of Brain, p. 2519-30, 2000