Sofia Ygberg

发表

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

A. Nordgren, J. Eisfeldt, D. Nilsson, 2021, Genome Medicine.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

N. Brunetti‐Pierri, J. Hentschel, F. Alkuraya, 2022, American journal of human genetics.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Abou, N. Brunetti‐Pierri, J. Hentschel, 2022, medRxiv.

Altered cytokine levels in cerebrospinal fluid following ketogenic diet of children with refractory epilepsy

M. Dahlin, R. Wickström, S. Ygberg, 2021, Epilepsy Research.

The developing immune system – from foetus to toddler

A. Nilsson, Sofia Ygberg, 2012, Acta paediatrica.

Assessment of Cytokine and Chemokine Signatures as Potential Biomarkers of Childhood Community-acquired Pneumonia Severity: A Nested Cohort Study in India

J. Mathew, P. Ray, S. Ygberg, 2017, The Pediatric infectious disease journal.

Isolation of rrgA promoter binding proteins in Streptococcus pneumoniae

B. H. Normark, S. Ygberg, Sofia Ygberg, 2007 .

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

A. Lindstrand, A. Wredenberg, A. Wedell, 2022, Biomedicines.

Salicylidene Acylhydrazides That Affect Type III Protein Secretion in Salmonella enterica Serovar Typhimurium

H. Wolf‐Watz, A. Negrea, M. Rhen, 2007, Antimicrobial Agents and Chemotherapy.

Clinical guidance for diagnosis and management of suspected Pediatric Acute‐onset Neuropsychiatric Syndrome in the Nordic countries

T. Hedderly, H. Gjone, L. Skov, 2021, Acta paediatrica.

High-intensity resistance training in multiple sclerosis — An exploratory study of effects on immune markers in blood and cerebrospinal fluid, and on mood, fatigue, health-related quality of life, muscle strength, walking and cognition

T. Olsson, F. Piehl, C. Opava, 2016, Journal of the Neurological Sciences.

A ten‐year retrospective case series of glucocorticoid treatment of bacterial meningitis in children

A. Brauner, S. Ygberg, B. Chambers, 2016, Acta paediatrica.

Thioredoxin 1 Participates in the Activity of the Salmonella enterica Serovar Typhimurium Pathogenicity Island 2 Type III Secretion System

A. Negrea, F. Åslund, M. Rhen, 2009, Journal of bacteriology.

Polynucleotide Phosphorylase Negatively Controls spv Virulence Gene Expression in Salmonella enterica

A. Thompson, J. Hinton, D. Holden, 2006, Infection and Immunity.

A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy

M. Lindskog, H. Brismar, A. Lindstrand, 2021, The Journal of biological chemistry.

Neurocognitive outcome in children and adolescents following infectious encephalitis.

Å. Fowler, K. Bergman, Riikka Lovio, 2023, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

G. Bejerano, S. Mehta, R. Hevner, 2017, Brain : a journal of neurology.