Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2015 1
2016 2
2018 4
2019 3
2020 1
2022 2
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

13 results

Results by year

Filters applied: . Clear all
Page 1
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: nazaryan petersen l. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Chromothripsis and DNA Repair Disorders.
Nazaryan-Petersen L, Bjerregaard VA, Nielsen FC, Tommerup N, Tümer Z. Nazaryan-Petersen L, et al. J Clin Med. 2020 Feb 25;9(3):613. doi: 10.3390/jcm9030613. J Clin Med. 2020. PMID: 32106411 Free PMC article. Review.
Haploinsufficiency of ARHGAP42 is associated with hypertension.
Fjorder AS, Rasmussen MB, Mehrjouy MM, Nazaryan-Petersen L, Hansen C, Bak M, Grarup N, Nørremølle A, Larsen LA, Vestergaard H, Hansen T, Tommerup N, Bache I. Fjorder AS, et al. Among authors: nazaryan petersen l. Eur J Hum Genet. 2019 Aug;27(8):1296-1303. doi: 10.1038/s41431-019-0382-9. Epub 2019 Mar 21. Eur J Hum Genet. 2019. PMID: 30903111 Free PMC article.
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Mørup SB, Nazaryan-Petersen L, Gabrielaite M, Reekie J, Marquart HV, Hartling HJ, Marvig RL, Katzenstein TL, Masmas TN, Lundgren J, Murray DD, Helleberg M, Borgwardt L. Mørup SB, et al. Among authors: nazaryan petersen l. Front Immunol. 2022 Jun 30;13:906328. doi: 10.3389/fimmu.2022.906328. eCollection 2022. Front Immunol. 2022. PMID: 35874679 Free PMC article. Review.
A novel DOCK2 variant in siblings with severe combined immunodeficiency.
Bruusgaard-Mouritsen MA, Masmas T, Borgwardt L, Nazaryan-Petersen L, Heilmann C, Madsen HO, Vibeke Marquart H. Bruusgaard-Mouritsen MA, et al. Among authors: nazaryan petersen l. Scand J Immunol. 2023 Mar;97(3):e13243. doi: 10.1111/sji.13243. Epub 2023 Jan 12. Scand J Immunol. 2023. PMID: 36541113 Free article. No abstract available.
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O. Kurtas NE, et al. Among authors: nazaryan petersen l. Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22. Hum Mutat. 2019. PMID: 30412329 Free article.
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. 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.
13 results