Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Hum Mutat. 2020 Nov;41(11):1979-1998. doi: 10.1002/humu.24106. Epub 2020 Oct 1.
Hum Mutat. 2020.
PMID: 32906200
Free PMC article.
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, Lundberg ES, Carvalho CMB, Lindstrand A.
Nilsson D, et al. Among authors: lundberg es.
Hum Mutat. 2017 Feb;38(2):180-192. doi: 10.1002/humu.23146. Epub 2016 Dec 5.
Hum Mutat. 2017.
PMID: 27862604
Free PMC article.
Item in Clipboard
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L, Ottosson J, Gacic J, Mäkitie O, Nordgren A, Vezzi F, Wirta V, Käller M, Hjortshøj TD, Jespersgaard C, Houssari R, Pignata L, Bak M, Tommerup N, Lundberg ES, Tümer Z, Lindstrand A.
Nazaryan-Petersen L, et al. Among authors: lundberg es.
PLoS Genet. 2018 Nov 12;14(11):e1007780. doi: 10.1371/journal.pgen.1007780. eCollection 2018 Nov.
PLoS Genet. 2018.
PMID: 30419018
Free PMC article.
Item in Clipboard
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Kvarnung M, Taylan F, Nilsson D, Anderlid BM, Malmgren H, Lagerstedt-Robinson K, Holmberg E, Burstedt M, Nordenskjöld M, Nordgren A, Lundberg ES.
Kvarnung M, et al. Among authors: lundberg es.
Clin Genet. 2018 Dec;94(6):528-537. doi: 10.1111/cge.13448. Epub 2018 Oct 15.
Clin Genet. 2018.
PMID: 30221345
Item in Clipboard
Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome.
Liedén A, Kvarnung M, Nilssson D, Sahlin E, Lundberg ES.
Liedén A, et al. Among authors: lundberg es.
Am J Med Genet A. 2014 Dec;164A(12):3083-7. doi: 10.1002/ajmg.a.36769. Epub 2014 Sep 23.
Am J Med Genet A. 2014.
PMID: 25251319
Item in Clipboard
Cite
Cite