Anna Lindstrand - Concepedia

Author

Anna Lindstrand

Also Known As

A Lindstrand, A. Lindstrand, Adam Jackson, Anna Lindstrand, Anna Martinez Casals, Anne Hugon, Claudia M.B. Carvalho, Lindstrand A, Lindstrand, Anna, Malin Kvarnung

184

Publications

5.3K

Citations

H-Index

Concepts

All Affiliations

Karolinska Institutet Karolinska University Hospital Science for Life Laboratory Baylor College of Medicine Uppsala University

About

Anna Lindstrand is an author at Karolinska Institutet specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	24	32	2.4K
2	Natural Sciences	5	5	151
3	Engineering	3	3	153
4	Education	1	1	62
5	Health Sciences	1	1	16

Anna Lindstrand

Publications

4.7K

Citations

H-Index

Page 1

	Year	Citations
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Nature Genetics Neurodevelopmental DisordersSyndromic AutismGeneticsPsychiatric GeneticsAutism	2017	558
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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Nature Communications GeneticsMost GenesDisease Gene IdentificationGenomicsNdd Cases	2020	204
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Biological Psychiatry Neurodevelopmental DisordersDevelopmental BiologyMendelian DisorderBrain DevelopmentComplex Neurodevelopmental Disorder	2018	177
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Nature Neuroscience Neurodevelopmental DisordersNeurodevelopmental Disorder GenesFunctional DomainsDevelopmental BiologyGenetic Disorder	2017	176
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes Damien L. Bruno, Britt‐Marie Anderlid, Anna Lindstrand, Journal of Medical Genetics	2010	164
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Rim Hjeij, Anna Lindstrand, Richard Francis, The American Journal of Human Genetics	2013	160
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features Emma Tham, Anna Lindstrand, Avni Santani, The American Journal of Human Genetics Recognizable Syndromic FeaturesDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2015	140
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 Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Genome Medicine	2019	139
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome Anna Lindstrand, Stephan Frangakis, Claudia M.B. Carvalho, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsPathologyMolecular Genetics	2016	136

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