Tommy Stödberg - Concepedia

Author

Tommy Stödberg

Also Known As

Hazel G. White, Stödberg, Tommy, T Stödberg, T. Stodberg, T. Stödberg, TOMMY STÖDBERG, Tommy I. Stödberg, Tommy Stodberg, Tommy Stödberg

Publications

2.7K

Citations

H-Index

Concepts

All Affiliations

Karolinska University Hospital Karolinska Institutet University College London Science for Life Laboratory Great Ormond Street Hospital

About

Tommy Stödberg is an author at Karolinska University Hospital specializing in medicine, neuropathology, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	902
2	Social Sciences	4	4	674
3	Public Health	1	1	98
4	Child Development	1	1	98
5	Cognitive Science	1	1	22

Tommy Stödberg

Publications

2.6K

Citations

H-Index

Page 1

	Year	Citations
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
A de novo gain-of-function mutation in SCN11A causes loss of pain perception Enrico Leipold, Lutz Liebmann, Georg Christoph Korenke, Nature Genetics Molecular NeuroscienceGeneticsGain-of-function MutationSocial SciencesNeuroscience	2013	302
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson, Genome Medicine	2021	253
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures Tommy Stödberg, Amy McTague, Arnaud Ruiz, Nature Communications Kcc2 DysfunctionGeneticsNeurotransmitterNeurotransmissionSynaptic Signaling	2015	175
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome Philippa B. Mills, Stéphane Camuzeaux, Emma Footitt, Brain Molecular NeurosciencePnpo GeneGenetic DisorderPnpo MutationsGenetics	2014	175
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in <i>PIGT</i> Malin Kvarnung, Daniel Nilsson, Anna Lindstrand, Journal of Medical Genetics	2013	120
Homozygous <i>PLCB1</i> deletion associated with malignant migrating partial seizures in infancy Annapurna Poduri, Sameer S. Chopra, Edward Neilan, Epilepsia	2012	116
<i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy Annapurna Poduri, Erin L. Heinzen, Vida Chitsazzadeh, Annals of Neurology	2013	114
De novo <i>SCN1A</i> mutations in migrating partial seizures of infancy Daniel Carranza Rojo, L Hamiwka, Jacinta M. McMahon, Neurology	2011	105
Childhood encephalitis in Sweden: Etiology, clinical presentation and outcome Å Fowler, Tommy Stödberg, Marie Eriksson, European Journal of Paediatric Neurology Pediatric HydrocephalusPediatric EpidemiologyChildhood EncephalitisClinical EpidemiologyPediatrics	2008	98

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