Cargando…

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing...

Descripción completa

Detalles Bibliográficos
Autores principales:	Śmigiel, Robert, Biela, Mateusz, Szmyd, Krzysztof, Błoch, Michal, Szmida, Elżbieta, Skiba, Paweł, Walczak, Anna, Gasperowicz, Piotr, Kosińska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Biernacka, Anna, Zielińska, Marzena, Gołębiowski, Waldemar, Jalowska, Agnieszka, Ohia, Grażyna, Głowska, Bożena, Walas, Wojciech, Królak-Olejnik, Barbara, Krajewski, Paweł, Sykut-Cegielska, Jolanta, Sąsiadek, Maria M., Płoski, Rafał
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408678/ https://www.ncbi.nlm.nih.gov/pubmed/32668698 http://dx.doi.org/10.3390/jcm9072220

Ejemplares similares

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
por: Smigiel, Robert, et al.
Publicado: (2018)

Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene
por: Slezak, Ryszard, et al.
Publicado: (2020)

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
por: Szczałuba, Krzysztof, et al.
Publicado: (2020)

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
por: Stembalska, Agnieszka, et al.
Publicado: (2022)

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 Genes
por: Wolańska, Ewelina, et al.
Publicado: (2021)

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
por: Stembalska, Agnieszka, et al.
Publicado: (2021)

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
por: Stembalska, Agnieszka, et al.
Publicado: (2022)

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
por: Truszkowska, Grażyna T., et al.
Publicado: (2017)

Epigenetic Findings in Twins with Esophageal Atresia
por: Błoch, Michal, et al.
Publicado: (2023)

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes
por: Franaszczyk, Maria, et al.
Publicado: (2020)

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
por: Klaniewska, Magdalena, et al.
Publicado: (2021)

Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation
por: Biela, Mateusz, et al.
Publicado: (2022)

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome
por: Machnikowska-Sokołowska, Magdalena, et al.
Publicado: (2020)

Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene
por: Klaniewska, Magdalena, et al.
Publicado: (2021)

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue
por: Szczałuba, Krzysztof, et al.
Publicado: (2021)

Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review
por: Szczałuba, Krzysztof, et al.
Publicado: (2020)

Is c.1431-12G>A a Common European Mutation of SPINK5? Report of a Patient with Netherton Syndrome
por: Śmigiel, R, et al.
Publicado: (2016)

Inverse Association between Obesity Predisposing FTO Genotype and Completed Suicide
por: Chojnicka, Izabela, et al.
Publicado: (2014)

The MED13L Haploinsufficiency Syndrome Associated with De Novo Nonsense Variant (P.GLN1981*)
por: Dawidziuk, Mateusz, et al.
Publicado: (2021)

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications
por: Rydzanicz, Małgorzata, et al.
Publicado: (2020)

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review
por: Biela, Mateusz, et al.
Publicado: (2021)

Possible Association between Suicide Committed under Influence of Ethanol and a Variant in the AUTS2 Gene
por: Chojnicka, Izabela, et al.
Publicado: (2013)

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability
por: Rzońca-Niewczas, Sylwia, et al.
Publicado: (2021)

Application of next-generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss
por: Lechowicz, Urszula, et al.
Publicado: (2018)

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss
por: Pollak, Agnieszka, et al.
Publicado: (2016)

FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
por: Badura‐Stronka, Magdalena, et al.
Publicado: (2022)

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
por: Pollak, Agnieszka, et al.
Publicado: (2017)

Cross-border healthcare? The Polish experience
por: Sykut-Cegielska, Jolanta
Publicado: (2010)

From the Editor-in-Chief
por: Sykut-Cegielska, Jolanta
Publicado: (2020)

Aberrant methylation of ERBB pathway genes in sporadic colorectal cancer
por: Szmida, Elzbieta, et al.
Publicado: (2014)

Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases
por: Pokora, Paulina, et al.
Publicado: (2018)

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
por: Slezak, Ryszard, et al.
Publicado: (2021)

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene
por: Pronicka, Ewa, et al.
Publicado: (2011)

Destabilization of mutated human PUS3 protein causes intellectual disability
por: Lin, Ting‐Yu, et al.
Publicado: (2022)

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
por: Pronicka, Ewa, et al.
Publicado: (2016)

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants
por: Lipiński, Patryk, et al.
Publicado: (2019)

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype
por: Murcia Pienkowski, Victor, et al.
Publicado: (2020)

The BAX gene as a candidate for negative autophagy-related genes regulator on mRNA levels in colorectal cancer
por: Gil, Justyna, et al.
Publicado: (2016)

The Influence of Tumor Microenvironment on ATG4D Gene Expression in Colorectal Cancer Patients
por: Gil, Justyna, et al.
Publicado: (2018)

Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report
por: Cendal, Izabela, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_6heoee1gufcon97e81frt3ts8q