Lusine Petersen-Nazaryan

Copenhagen, Denmark

Last Updated: 09/26/2026

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Found 14 publications

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 05, 2024

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

Journal: American journal of human genetics

Published: February 23, 2023

A novel DOCK2 variant in siblings with severe combined immunodeficiency.

A novel DOCK2 variant in siblings with severe combined immunodeficiency.

Journal: Scandinavian journal of immunology

Published: November 11, 2022

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.

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.

Journal: Frontiers in immunology

Published: March 28, 2022

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Journal: Scientific reports

Published: November 03, 2021

Chromothripsis and DNA Repair Disorders.

Chromothripsis and DNA Repair Disorders.

Journal: Journal of clinical medicine

Published: January 28, 2020

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Journal: Human mutation

Published: October 23, 2018

Haploinsufficiency of ARHGAP42 is associated with hypertension.

Haploinsufficiency of ARHGAP42 is associated with hypertension.

Journal: European journal of human genetics : EJHG

Published: October 15, 2018

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Journal: Human mutation

Published: August 21, 2018

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Journal: PLoS genetics

Published: June 25, 2018

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Journal: American journal of human genetics

Published: February 02, 2018

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Journal: Human mutation

Published: October 02, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026