Henrik Stranneheim

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

Article: GENOME MEDICINE. 2019;11(1):68
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjo A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjold M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: STEM CELL REPORTS. 2019;12(4):696-711
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation
Calvo-Garrido J; Maffezzini C; Schober FA; Clemente P; Uhlin E; Kele M; Stranneheim H; Lesko N; Bruhn H; Svenningsson P; Falk A; Wedell A; Freyer C; Wredenberg A
Article: ORPHANET JOURNAL OF RARE DISEASES. 2017;12(1):73
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
Tegelberg S; Tomasic N; Kallijarvi J; Purhonen J; Elmer E; Lindberg E; Nord DG; Soller M; Lesko N; Wedell A; Bruhn H; Freyer C; Stranneheim H; Wibom R; Nennesmo I; Wredenberg A; Eklund EA; Fellman V
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(3):735-743
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Haack TB; Ignatius E; Calvo-Garrido J; Iuso A; Isohanni P; Maffezzini C; Lonnqvist T; Suomalainen A; Gorza M; Kremer LS; Graf E; Hartig M; Berutti R; Paucar M; Svenningsson P; Stranneheim H; Brandberg G; Wedell A; Kurian MA; Hayflick SA; Venco P; Tiranti V; Strom TM; Dichgans M; Horvath R; Holinski-Feder E; Freyer C; Meitinger T; Prokisch H; Senderek J; Wredenberg A; Carroll CJ; Klopstock T
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2016;20(3):457-461
Biotin and Thiamine Responsive Basal Ganglia Disease - A vital differential diagnosis in infants with severe encephalopathy
Ygberg S; Naess K; Eriksson M; Stranneheim H; Lesko N; Barbaro M; Wibom R; Wang C; Wedell A; Wickstrom R
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;97(5):761-768
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
Kishita Y; Pajak A; Bolar NA; Marobbio CMT; Maffezzini C; Miniero DV; Monne M; Kohda M; Stranneheim H; Murayama K; Naess K; Lesko N; Bruhn H; Mourier A; Wibom R; Nennesmo I; Jespers A; Goyaert P; Ohtake A; Van Laer L; Loeys BL; Freyer C; Palmieri F; Wredenberg A; Okazaki Y; Wedell A
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(11):779-783
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid
Freyer C; Stranneheim H; Naess K; Mourier A; Felser A; Maffezzini C; Lesko N; Bruhn H; Engvall M; Wibom R; Barbaro M; Hinze Y; Magnusson M; Andeer R; Zetterstrom RH; von Dobeln U; Wredenberg A; Wedell A
Article: NATURE COMMUNICATIONS. 2015;6:8038
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
Stodberg T; McTague A; Ruiz AJ; Hirata H; Zhen J; Long P; Farabella I; Meyer E; Kawahara A; Vassallo G; Stivaros SM; Bjursell MK; Stranneheim H; Tigerschiold S; Persson B; Bangash I; Das K; Hughes D; Lesko N; Lundeberg J; Scott RC; Poduri A; Scheffer IE; Smith H; Gissen P; Schorge S; Reith MEA; Topf M; Kullmann DM; Harvey RJ; Wedell A; Kurian MA
Article: BMC GENOMICS. 2014;15(1):1090
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
Stranneheim H; Engvall M; Naess K; Lesko N; Larsson P; Dahlberg M; Andeer R; Wredenberg A; Freyer C; Barbaro M; Bruhn H; Emahazion T; Magnusson M; Wibom R; Zetterstrom RH; Wirta V; von Dobeln U; Wedell A
Article: GENOME BIOLOGY. 2014;15(3):R53
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Brownstein CA; Beggs AH; Homer N; Merriman B; Yu TW; Flannery KC; DeChene ET; Towne MC; Savage SK; Price EN; Holm IA; Luquette LJ; Lyon E; Majzoub J; Neupert P; McCallie DJ; Szolovits P; Willard HF; Mendelsohn NJ; Temme R; Finkel RS; Yum SW; Medne L; Sunyaev SR; Adzhubey I; Cassa CA; de Bakker PIW; Duzkale H; Dworzynski P; Fairbrother W; Francioli L; Funke BH; Giovanni MA; Handsaker RE; Lage K; Lebo MS; Lek M; Leshchiner I; MacArthur DG; McLaughlin HM; Murray MF; Pers TH; Polak PP; Raychaudhuri S; Rehm HL; Soemedi R; Stitziel NO; Vestecka S; Supper J; Gugenmus C; Klocke B; Hahn A; Schubach M; Menzel M; Biskup S; Freisinger P; Deng M; Braun M; Perner S; Smith RJH; Andorf JL; Huang J; Ryckman K; Sheffield VC; Stone EM; Bair T; Black-Ziegelbein EA; Braun TA; Darbro B; DeLuca AP; Kolbe DL; Scheetz TE; Shearer AE; Sompallae R; Wang K; Bassuk AG; Edens E; Mathews K; Moore SA; Shchelochkov OA; Trapane P; Bossler A; Campbell CA; Heusel JW; Kwitek A; Maga T; Panzer K; Wassink T; Van Daele D; Azaiez H; Booth K; Meyer N; Segal MM; Williams MS; Tromp G; White P; Corsmeier D; Fitzgerald-Butt S; Herman G; Lamb-Thrush D; McBride KL; Newsom D; Pierson CR; Rakowsky AT; Maver A; Lovrecic L; Palandacic A; Peterlin B; Torkamani A; Wedell A; Huss M; Alexeyenko A; Lindvall JM; Magnusson M; Nilsson D; Stranneheim H; Taylan F; Gilissen C; Hoischen A; van Bon B; Yntema H; Nelen M; Zhang W; Sager J; Zhang L; Blair K; Kural D; Cariaso M; Lennon GG; Javed A; Agrawal S; Ng PC; Sandhu KS; Krishna S; Veeramachaneni V; Isakov O; Halperin E; Friedman E; Shomron N; Glusman G; Roach JC; Caballero J; Cox HC; Mauldin D; Ament SA; Rowen L; Richards DR; San Lucas FA; Gonzalez-Garay ML; Caskey CT; Bai Y; Huang Y; Fang F; Zhang Y; Wang Z; Barrera J; Garcia-Lobo JM; Gonzalez-Lamuno D; Llorca J; Rodriguez MC; Varela I; Reese MG; De la Vega FM; Kiruluta E; Cargill M; Hart RK; Sorenson JM; Lyon GJ; Stevenson DA; Bray BE; Moore BM; Eilbeck K; Yandell M; Zhao H; Hou L; Chen X; Yan X; Chen M; Li C; Yang C; Gunel M; Li P; Kong Y; Alexander AC; Albertyn ZI; Boycott KM; Bulman DE; Gordon PMK; Innes AM; Knoppers BM; Majewski J; Marshall CR; Parboosingh JS; Sawyer SL; Samuels ME; Schwartzentruber J; Kohane IS; Margulies DM
Article: BMC GENOMICS. 2012;13:574
Comparison of total and cytoplasmic mRNA reveals global regulation by nuclear retention and miRNAs.
Solnestam BW; Stranneheim H; Hällman J; Käller M; Lundberg E; Lundeberg J; Akan P
Article: PLOS ONE. 2012;7(9):e46440
Gene Expression Profiles in Paired Gingival Biopsies from Periodontitis-Affected and Healthy Tissues Revealed by Massively Parallel Sequencing
Davanian H; Stranneheim H; Bage T; Lagervall M; Jansson L; Lundeberg J; Yucel-Lindberg T
Article: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2011;131(2):504-508
Sun-Induced Nonsynonymous p53 Mutations Are Extensively Accumulated and Tolerated in Normal Appearing Human Skin
Stahl PL; Stranneheim H; Asplund A; Berglund L; Ponten F; Lundeberg J
Article: PLOS ONE. 2011;6(7):e21910
Scalable transcriptome preparation for massive parallel sequencing.
Stranneheim H; Werne B; Sherwood E; Lundeberg J
Article: BIOINFORMATICS. 2010;26(13):1595-1600
Classification of DNA sequences using Bloom filters
Stranneheim H; Kaller M; Allander T; Andersson B; Arvestad L; Lundeberg J
Article: PLOS ONE. 2010;5(3):e10029
Increased Throughput by Parallelization of Library Preparation for Massive Sequencing
Lundin S; Stranneheim H; Pettersson E; Klevebring D; Lundeberg J
Article: PROTEOME SCIENCE. 2009;7:43
A comparison between protein profiles of B cell subpopulations and mantle cell lymphoma cells
Stranneheim H; Orre LM; Lehtio J; Flygare J
Article: PLOS ONE. 2009;4(7):e6405
Inheritance of acquired behaviour adaptations and brain gene expression in chickens.
Nätt D; Lindqvist N; Stranneheim H; Lundeberg J; Torjesen PA; Jensen P

Alla övriga publikationer

Editorial comment: NEUROLOGY. 2018;91(15):710-712
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations
Paucar M; Pajak A; Freyer C; Bergendal A; Dory M; Laffita-Mesa JM; Stranneheim H; Lagerstedt-Robinson K; Savitcheva I; Walker RH; Wedell A; Wredenberg A; Svenningsson P
Review: JOURNAL OF INTERNAL MEDICINE. 2016;279(1):3-15
Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders
Stranneheim H; Wedell A
Review: BIOTECHNOLOGY JOURNAL. 2012;7(9):1063-1073
Stepping stones in DNA sequencing
Stranneheim H; Lundeberg J

Anställningar

Enhetschef, Institutionen för mikrobiologi, tumör- och cellbiologi, Karolinska Institutet, 2022-

Handledare

Jesper Eisfeldt, Characterization of structural chromosomal variants by massive parallel sequencing

Artiklar

Alla övriga publikationer

Anställningar

Handledare

Nyheter från KI

Kalenderhändelser från KI