Cargando…

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

BACKGROUND: Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-genome sequencing (WGS) with detailed phenotype dat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Costain, Gregory, Walker, Susan, Argiropoulos, Bob, Baribeau, Danielle A., Bassett, Anne S., Boot, Erik, Devriendt, Koen, Kellam, Barbara, Marshall, Christian R., Prasad, Aparna, Serrano, Moises A., Stavropoulos, D. James, Twede, Hope, Vermeesch, Joris R., Vorstman, Jacob A. S., Scherer, Stephen W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366120/ https://www.ncbi.nlm.nih.gov/pubmed/30732576 http://dx.doi.org/10.1186/s11689-019-9263-3

Ejemplares similares

Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders
por: Wassman, E. Robert, et al.
Publicado: (2019)

Chromosomal phenotypes and submicroscopic abnormalities
por: Devriendt, Koen, et al.
Publicado: (2004)

Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
por: Fiksinski, Ania M., et al.
Publicado: (2021)

A large data resource of genomic copy number variation across neurodevelopmental disorders
por: Zarrei, Mehdi, et al.
Publicado: (2019)

Dual role of DMXL2 in olfactory information transmission and the first wave of spermatogenesis
por: Gobé, Clara, et al.
Publicado: (2019)

The importance of copy number variation in congenital heart disease
por: Costain, Gregory, et al.
Publicado: (2016)

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
por: Ho, Karen S., et al.
Publicado: (2016)

Rabconnectin-3α/DMXL2 Is Locally Enriched at the Synaptic Ribbon of Rod Photoreceptor Synapses
por: Dittrich, Alina, et al.
Publicado: (2023)

The 22q11.2 Low Copy Repeats
por: Vervoort, Lisanne, et al.
Publicado: (2022)

Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
por: Ho, Karen S., et al.
Publicado: (2016)

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders
por: Thygesen, Johan H., et al.
Publicado: (2018)

DMXL2 drives epithelial to mesenchymal transition in hormonal therapy resistant breast cancer through notch hyper-activation
por: Faronato, Monica, et al.
Publicado: (2015)

Dynamic Regulation of Hypothalamic DMXL2, KISS1, and RFRP Expression During Postnatal Development in Non-Human Primates
por: Wahab, Fazal, et al.
Publicado: (2016)

Haploinsufficiency of Dmxl2, Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse
por: Tata, Brooke, et al.
Publicado: (2014)

Single-cell copy number variation detection
por: Cheng, Jiqiu, et al.
Publicado: (2011)

The clinical significance of small copy number variants in neurodevelopmental disorders
por: Asadollahi, Reza, et al.
Publicado: (2014)

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways
por: Silversides, Candice K., et al.
Publicado: (2012)

Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders
por: Baribeau, Danielle A., et al.
Publicado: (2017)

Adult expression of a 3q13.31 microdeletion
por: Lowther, Chelsea, et al.
Publicado: (2014)

Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model
por: Fiksinski, Ania M., et al.
Publicado: (2022)

22q11.2 Low Copy Repeats Expanded in the Human Lineage
por: Vervoort, Lisanne, et al.
Publicado: (2021)

Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders
por: Tropeano, Maria, et al.
Publicado: (2013)

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease
por: Sifrim, Alejandro, et al.
Publicado: (2012)

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era
por: Costain, Gregory, et al.
Publicado: (2012)

Fetal sex determination in twin pregnancies using non-invasive prenatal testing
por: Villela, Darine, et al.
Publicado: (2019)

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
por: Coe, Bradley P., et al.
Publicado: (2018)

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience
por: Ardui, Simon, et al.
Publicado: (2018)

Secondary leiomyosarcoma of the nasal cavity in a treated patient with possible hereditary retinoblastoma with germline reciprocal translocation of RB1 and DMXL1 and somatic TP53 mutation: A case report
por: Yagi, Toshinari, et al.
Publicado: (2023)

F72. NEUROCOGNITION AND ADAPTIVE FUNCTIONING IN THE 22Q11.2 DELETION SYNDROME MODEL OF SCHIZOPHRENIA
por: Ania, Fiksinski, et al.
Publicado: (2018)

A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants
por: Molloy, Ciara J., et al.
Publicado: (2023)

Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains
por: Van der Aa, Niels, et al.
Publicado: (2013)

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
por: Bassett, Anne S., et al.
Publicado: (2008)

GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments
por: Herten, Koen, et al.
Publicado: (2015)

Electrophysiological network alterations in adults with copy number variants associated with high neurodevelopmental risk
por: Dima, Diana C., et al.
Publicado: (2020)

S132. A NORMATIVE CHART FOR THE TRAJECTORY OF COGNITIVE FUNCTIONING IN INDIVIDUALS AT HIGH RISK FOR SCHIZOPHRENIA: LONGITUDINAL FINDINGS FROM THE INTERNATIONAL BRAIN AND BEHAVIOR CONSORTIUM ON 22Q11.2 DELETION SYNDROME
por: Ania, Fiksinski, et al.
Publicado: (2018)

Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing
por: Masset, Heleen, et al.
Publicado: (2022)

Autism and related neurodevelopmental disorders: the many genes involved
por: Scherer, Stephen W
Publicado: (2014)

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
por: Uddin, Mohammed, et al.
Publicado: (2017)

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia
por: Lowther, Chelsea, et al.
Publicado: (2017)

Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders
por: Glessner, Joseph T., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_12dqibdn1nitssboeqk2qcs5o3