Anna Lindstrand
Anna Lindstrand
Department of Molecular Medicine and Surgery, Karolinska Institutet
Verified email at ki.se - Homepage
TitleCited byYear
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
2542012
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515, 2017
1232017
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
1192010
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
972013
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
902013
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
572014
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
492010
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
482010
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
442015
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
432016
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
382014
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
362015
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, 2017
352017
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
222016
Whole‐genome sequencing of cytogenetically balanced chromosome translocations identifies potentially pathological gene disruptions and highlights the importance of …
D Nilsson, M Pettersson, P Gustavsson, A Förster, W Hofmeister, ...
Human mutation 38 (2), 180-192, 2017
202017
CTNND2—a candidate gene for reading problems and mild intellectual disability
W Hofmeister, D Nilsson, A Topa, BM Anderlid, F Darki, H Matsson, ...
Journal of medical genetics 52 (2), 111-122, 2015
202015
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
172019
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
E Tham, EA Eklund, A Hammarsjö, P Bengtson, S Geiberger, ...
European Journal of Human Genetics 24 (2), 198, 2016
162016
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
152017
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
NC Bramswig, HJ Lüdecke, M Pettersson, B Albrecht, RA Bernier, ...
Human genetics 136 (2), 179-192, 2017
142017
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Articles 1–20