Anna Lindstrand
Anna Lindstrand
Associate Professor, Consultant, Karolinska University Hospital
Verified email at - Homepage
Cited by
Cited by
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ...
Cell 150 (3), 533-548, 2012
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
R Hjeij, A Lindstrand, R Francis, MA Zariwala, X Liu, Y Li, R Damerla, ...
The American Journal of Human Genetics 93 (2), 357-367, 2013
Further molecular and clinical delineation of co-locating 17p13. 3 microdeletions and microduplications that show distinctive phenotypes
DL Bruno, BM Anderlid, A Lindstrand, C van Ravenswaaij-Arts, ...
Journal of Medical Genetics 47 (5), 299-311, 2010
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ...
Nature neuroscience 20 (8), 1043-1051, 2017
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
M Kvarnung, D Nilsson, A Lindstrand, GC Korenke, SCC Chiang, ...
Journal of medical genetics 50 (8), 521-528, 2013
Copy-number variation contributes to the mutational load of Bardet-Biedl syndrome
A Lindstrand, S Frangakis, CMB Carvalho, EB Richardson, KA McFadden, ...
The American Journal of Human Genetics 99 (2), 318-336, 2016
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
E Tham, A Lindstrand, A Santani, H Malmgren, A Nesbitt, HA Dubbs, ...
The American Journal of Human Genetics 96 (3), 507-513, 2015
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
A Lindstrand, EE Davis, CMB Carvalho, D Pehlivan, JR Willer, IC Tsai, ...
The American Journal of Human Genetics 94 (5), 745-754, 2014
Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement
I Kapferer-Seebacher, M Pepin, R Werner, TJ Aitman, A Nordgren, ...
The American Journal of Human Genetics 99 (5), 1005-1014, 2016
Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ...
Biological psychiatry 85 (4), 287-297, 2019
Low copy number of the AMY1 locus is associated with early-onset female obesity in Finland
H Viljakainen, JC Andersson-Assarsson, M Armenio, M Pekkinen, ...
PloS one 10 (7), e0131883, 2015
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying …
A Lindstrand, J Eisfeldt, M Pettersson, C Carvalho, M Kvarnung, ...
Genome medicine 11 (1), 1-23, 2019
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data
J Eisfeldt, F Vezzi, P Olason, D Nilsson, A Lindstrand
F1000Research 6, 2017
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
A Lindstrand, G Grigelioniene, D Nilsson, M Pettersson, W Hofmeister, ...
Journal of medical genetics 51 (1), 45-54, 2014
Molecular and clinical characterization of patients with overlapping 10p deletions
A Lindstrand, H Malmgren, A Verri, E Benetti, M Eriksson, A Nordgren, ...
American journal of medical genetics Part A 152 (5), 1233-1243, 2010
Detailed molecular and clinical characterization of three patients with 21q deletions
A Lindstrand, H Malmgren, S Sahlen, J Schoumans, A Nordgren, ...
Clinical genetics 77 (2), 145-154, 2010
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ...
Nature communications 11 (1), 1-13, 2020
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
G Grigelioniene, HI Suzuki, F Taylan, F Mirzamohammadi, ...
Nature medicine 25 (4), 583-590, 2019
Zebrafish models of neurodevelopmental disorders: limitations and benefits of current tools and techniques
R Vaz, W Hofmeister, A Lindstrand
International journal of molecular sciences 20 (6), 1296, 2019
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