H. Stranneheim

R. Wibom, H. Stranneheim, A. Wedell, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

P. Svenningsson, I. Savitcheva, A. Pajak, 2018, Neurology.

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia

H. Stranneheim, A. Wredenberg, T. Stödberg, 2020, Neurology: Genetics.

Clinical Presentation, Genetic Etiology and Coenzyme Q10 Level in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.

R. Wibom, H. Stranneheim, C. Freyer, 2020, The Journal of pediatrics.

Increased Throughput by Parallelization of Library Preparation for Massive Sequencing

Joakim Lundeberg, Erik Pettersson, Henrik Stranneheim, 2010, PloS one.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Classification of DNA sequences using Bloom filters

Björn Andersson, Lars Arvestad, Joakim Lundeberg, 2010, Bioinform..

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

I. Scheffer, Hiromi Hirata, D. Kullmann, 2015, Nature Communications.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

P. Svenningsson, T. Meitinger, T. Strom, 2016, American journal of human genetics.

Scalable Transcriptome Preparation for Massive Parallel Sequencing

J. Lundeberg, Ellen Sherwood, H. Stranneheim, 2011, PloS one.

Comparison of total and cytoplasmic mRNA reveals global regulation by nuclear retention and miRNAs

E. Lundberg, J. Lundeberg, P. Akan, 2012, BMC Genomics.

Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders

H. Stranneheim, A. Wedell, H Stranneheim, 2016, Journal of internal medicine.

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

Pontus Larsson, R. Wibom, R. Zetterström, 2014, BMC Genomics.

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.

A comparison between protein profiles of B cell subpopulations and mantle cell lymphoma cells

J. Flygare, J. Lehtiö, L. Orre, 2009, Proteome Science.

Correction: Inheritance of Acquired Behaviour Adaptations and Brain Gene Expression in Chickens

J. Lundeberg, P. Jensen, P. Torjesen, 2009, PLoS ONE.

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

V. Fellman, E. Eklund, J. Kallijärvi, 2017, Orphanet Journal of Rare Diseases.

Loqusdb: added value of an observations database of local genomic variation

Jesper Eisfeldt, Daniel Nilsson, Anna Lindstrand, 2020, BMC Bioinformatics.

Implementing precision medicine in a regionally organized healthcare system in Sweden

L. Levin, D. Gisselsson, T. Fioretos, 2022, Nature Medicine.

Chanjo: Clincal grade sequence coverage analysis

Robin Andeer, Måns Magnusson, Anna Wedell, 2020, F1000Research.

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy

K. Samuelsson, R. Wibom, H. Stranneheim, 2021, Neurology: Genetics.

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

Anna Wedell, Henrik Stranneheim, Per Svenningsson, 2019, Stem cell reports.

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies

H. Stranneheim, T. Stödberg, A. Wedell, 2023, Molecular genetics & genomic medicine.

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7

M. Moedas, R. Wibom, H. Stranneheim, 2021, Human mutation.

Absence of the Autophagy Adaptor SQSTM 1 / p 62 Causes Childhood-Onset Neurodegeneration with Ataxia , Dystonia , and Gaze Palsy Haack

P. Svenningsson, T. Meitinger, T. Strom, 2022 .

Gene Expression Profiles in Paired Gingival Biopsies from Periodontitis-Affected and Healthy Tissues Revealed by Massively Parallel Sequencing

J. Lundeberg, H. Stranneheim, T. Yucel-Lindberg, 2012, PloS one.

Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

T. Tomson, B. Anderlid, H. Stranneheim, 2020, Epilepsia.

Stepping stones in DNA sequencing

J. Lundeberg, H. Steinkellner, H. Stranneheim, 2012, Biotechnology journal.

Review Stepping Stones in Dna Sequencing Review Recent Advances in Targeted Genome Engineering in Mammalian Systems Review Glyco-engineering in Plants to Produce Human-like N-glycan Structures Review Using Storage Organelles for the Accumulation and Encapsulation of Recombinant Proteins the Challeng

Huimin Zhao, Zhanar Abil, J. Lundeberg, 2022 .