Stepping stones in DNA sequencing

por Stranneheim, Henrik, Lundeberg, Joakim
Publicado 2012

Design and assessment of binary DNA for nanopore sequencing

por Akan, Pelin, Stranneheim, Henrik, Lexow, Preben, Lundeberg, Joakim
Publicado 2010

Scalable Transcriptome Preparation for Massive Parallel Sequencing

por Stranneheim, Henrik, Werne, Beata, Sherwood, Ellen, Lundeberg, Joakim
Publicado 2011

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

por Stranneheim, Henrik, Orre, Lukas M, Lehtiö, Janne, Flygare, Jenny
Publicado 2009

Increased Throughput by Parallelization of Library Preparation for Massive Sequencing

por Lundin, Sverker, Stranneheim, Henrik, Pettersson, Erik, Klevebring, Daniel, Lundeberg, Joakim
Publicado 2010

Classification of DNA sequences using Bloom filters

por Stranneheim, Henrik, Käller, Max, Allander, Tobias, Andersson, Björn, Arvestad, Lars, Lundeberg, Joakim
Publicado 2010

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

por Henry, Olivia J., Stödberg, Tommy, Båtelson, Sofia, Rasi, Chiara, Stranneheim, Henrik, Wedell, Anna
Publicado 2023

Inheritance of Acquired Behaviour Adaptations and Brain Gene Expression in Chickens

por Nätt, Daniel, Lindqvist, Niclas, Stranneheim, Henrik, Lundeberg, Joakim, Torjesen, Peter A., Jensen, Per
Publicado 2009

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

por Nätt, Daniel, Lindqvist, Niclas, Stranneheim, Henrik, Lundeberg, Joakim, Torjesen, Peter A., Jensen, Per
Publicado 2009

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

por Davanian, Haleh, Stranneheim, Henrik, Båge, Tove, Lagervall, Maria, Jansson, Leif, Lundeberg, Joakim, Yucel-Lindberg, Tülay
Publicado 2012

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

por Solnestam, Beata Werne, Stranneheim, Henrik, Hällman, Jimmie, Käller, Max, Lundberg, Emma, Lundeberg, Joakim, Akan, Pelin
Publicado 2012

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia

por Stödberg, Tommy, Magnusson, Måns, Lesko, Nicole, Wredenberg, Anna, Martin Munoz, Daniel, Stranneheim, Henrik, Wedell, Anna
Publicado 2020

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

por Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik
Publicado 2020

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

por Stödberg, Tommy, Tomson, Torbjörn, Barbaro, Michela, Stranneheim, Henrik, Anderlid, Britt‐Marie, Carlsson, Sofia, Åmark, Per, Wedell, Anna
Publicado 2020

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

por Rasi, Chiara, Nilsson, Daniel, Magnusson, Måns, Lesko, Nicole, Lagerstedt‐Robinson, Kristina, Wedell, Anna, Lindstrand, Anna, Wirta, Valtteri, Stranneheim, Henrik
Publicado 2022

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

por Bruhn, Helene, Samuelsson, Kristin, Schober, Florian A., Engvall, Martin, Lesko, Nicole, Wibom, Rolf, Nennesmo, Inger, Calvo-Garrido, Javier, Press, Rayomand, Stranneheim, Henrik, Freyer, Christoph, Wedell, Anna, Wredenberg, Anna
Publicado 2021

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

por Paucar, Martin, Pajak, Aleksandra, Freyer, Christoph, Bergendal, Åsa, Döry, Margit, Laffita-Mesa, José Miguel, Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Savitcheva, Irina, Walker, Ruth H., Wedell, Anna, Wredenberg, Anna, Svenningsson, Per
Publicado 2018

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

por Calvo-Garrido, Javier, Maffezzini, Camilla, Schober, Florian A., Clemente, Paula, Uhlin, Elias, Kele, Malin, Stranneheim, Henrik, Lesko, Nicole, Bruhn, Helene, Svenningsson, Per, Falk, Anna, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Publicado 2019

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

por Stranneheim, Henrik, Engvall, Martin, Naess, Karin, Lesko, Nicole, Larsson, Pontus, Dahlberg, Mats, Andeer, Robin, Wredenberg, Anna, Freyer, Chris, Barbaro, Michela, Bruhn, Helene, Emahazion, Tesfail, Magnusson, Måns, Wibom, Rolf, Zetterström, Rolf H, Wirta, Valtteri, von Döbeln, Ulrika, Wedell, Anna
Publicado 2014

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

por Freyer, Christoph, Stranneheim, Henrik, Naess, Karin, Mourier, Arnaud, Felser, Andrea, Maffezzini, Camilla, Lesko, Nicole, Bruhn, Helene, Engvall, Martin, Wibom, Rolf, Barbaro, Michela, Hinze, Yvonne, Magnusson, Måns, Andeer, Robin, Zetterström, Rolf H, von Döbeln, Ulrika, Wredenberg, Anna, Wedell, Anna
Publicado 2015