Cargando…

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

BACKGROUND: Congenital heart defects (CHD) and congenital anomalies of the kidney and urinary tract (CAKUT) account for significant morbidity and mortality in childhood. Dozens of monogenic causes of anomalies in each organ system have been identified. However, even though 30% of CHD patients also h...

Descripción completa

Detalles Bibliográficos
Autores principales:	Allred, Erika T., Perens, Elliot A., Coufal, Nicole G., Sanford Kobayashi, Erica, Kingsmore, Stephen F., Dimmock, David P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043482/ https://www.ncbi.nlm.nih.gov/pubmed/36999085 http://dx.doi.org/10.3389/fped.2023.1157630

Ejemplares similares

Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit
por: Sanford Kobayashi, Erica, et al.
Publicado: (2022)

Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract
por: Harris, Meredith, et al.
Publicado: (2022)

Risk Assessment of Severe Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): A Birth Cohort
por: Katsoufis, Chryso P., et al.
Publicado: (2019)

Factors Associated With the Development of Chronic Kidney Disease in Children With Congenital Anomalies of the Kidney and Urinary Tract
por: Isert, Saskia, et al.
Publicado: (2020)

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1
por: Sanford, Erica, et al.
Publicado: (2018)

A Predictive Model of Postnatal Surgical Intervention in Children With Prenatally Detected Congenital Anomalies of the Kidney and Urinary Tract
por: Vasconcelos, Mariana A., et al.
Publicado: (2019)

Data Quality Assessment on Congenital Anomalies in Ontario, Canada
por: Miao, Qun, et al.
Publicado: (2020)

Otocephaly: A Case Report of a Rare Congenital Anomaly
por: Ur Rahman, Hameed, et al.
Publicado: (2023)

Concurrence of Congenital Muscular Torticollis and Congenital Torticollis Due to Other Anomalies: Two Case Reports
por: Kim, Min-Wook, et al.
Publicado: (2021)

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract
por: Wu, Chen-Han Wilfred, et al.
Publicado: (2022)

The Voice of Parents of Children With a Congenital Anomaly – A EUROlinkCAT Study
por: Holm, Kristina Garne, et al.
Publicado: (2021)

The Role of Lung Function Testing in Newborn Infants With Congenital Thoracic Arterial Anomalies
por: Columbo, Claudia, et al.
Publicado: (2021)

Case Report: Uterine Anomalies in Girls With a Congenital Solitary Functioning Kidney
por: van Dam, Mark J. C. M., et al.
Publicado: (2021)

Case Report: Congenital Perineal Lipoma Associated With Additional External Genitalia Anomalies
por: Tocchioni, Francesca, et al.
Publicado: (2022)

Comparative Study Between Functional MR Urography and Renal Scintigraphy to Evaluate Drainage Curves and Split Renal Function in Children With Congenital Anomalies of Kidney and Urinary Tract (CAKUT)
por: Damasio, Maria Beatrice, et al.
Publicado: (2020)

The diagnostic yield of CGH and WES in neurodevelopmental disorders
por: Alotibi, Raniah S., et al.
Publicado: (2023)

Cantrell Syndrome—A Rare Complex Congenital Anomaly: A Case Report and Literature Review
por: Mărginean, Claudiu, et al.
Publicado: (2018)

Editorial: Congenital anomalies: State of the art and the new paradigms for a precision public health approach
por: Khoshnood, Babak, et al.
Publicado: (2022)

Risk Factors Associated With Renal and Urinary Tract Anomalies Delineated by an Ultrasound Screening Program in Infants
por: Liu, Yuling, et al.
Publicado: (2022)

Epidemiology of Multiple Congenital Anomalies Before and After Implementation of a Nationwide Prenatal Screening Program in Denmark
por: Toxværd, Marlene E., et al.
Publicado: (2021)

Plasma cell free next-generation sequencing detects an unusual pneumonia pathogen in an immunocompetent adolescent with acute respiratory distress syndrome
por: Rodriguez, Katherine M., et al.
Publicado: (2022)

Multiple congenital anomalies and adverse developmental outcomes are associated with neonatal intensive care admission and unilateral hearing loss
por: Horrocks, Lucy M., et al.
Publicado: (2023)

Editorial: Pyeloplasties in challenging scenarios as redo procedures, congenital anatomical anomalies and infants: Where do we stand?
por: Sforza, Simone, et al.
Publicado: (2023)

Non-surgical Correction of Congenital Ear Anomalies: A Review of the Literature
por: Feijen, Michelle M.W., et al.
Publicado: (2020)

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies
por: Fonova, E. A., et al.
Publicado: (2023)

Observed to expected lung area to head circumference ratio (O/E LHR) in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT): assessment and evaluation as predictive factor for acute postnatal outcome—a single center study
por: Sourouni, M., et al.
Publicado: (2023)

Performance of the ADAPT-Treated CardioCel® Scaffold in Pediatric Patients With Congenital Cardiac Anomalies: Medium to Long-Term Outcomes
por: Neethling, William, et al.
Publicado: (2020)

Congenital second branchial cleft anomalies in children: A report of 52 surgical cases, with emphasis on characteristic CT findings
por: Chen, Wei, et al.
Publicado: (2023)

Prevalence and associated factors of structural congenital anomalies in resource limited setting, 2023: a systematic review and meta-analysis
por: Geda, Yohannes Fikadu, et al.
Publicado: (2023)

Simulation Surgery Using 3D 3-layer Models for Congenital Anomaly
por: Ueda, Koichi, et al.
Publicado: (2020)

Congenital aural atresia and first branchial cleft anomalies: Cholesteatoma and surgical management
por: Liao, Elizabeth N., et al.
Publicado: (2022)

Useful Genioplasty for Repeated Recurrent Sleep Apnea of Congenital Anomalies and Its Evaluation
por: Kino, Hiromi, et al.
Publicado: (2023)

Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies
por: Woolf, Adrian S., et al.
Publicado: (2019)

Postnatal Management in Congenital Lower Urinary Tract Obstruction With and Without Prenatal Vesicoamniotic Shunt
por: Jank, Marietta, et al.
Publicado: (2021)

Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)
por: Rodriguez, Maria M.
Publicado: (2014)

The Prevalence and Pattern of Congenital Anomalies Among Neonates Admitted in a Tertiary Care Hospital in the Andaman and Nicobar Islands: A Retrospective Study
por: Sravani, Tera, et al.
Publicado: (2023)

The Diagnostic Efficacy of and Requirement for Postnatal Ultrasonography Screening for Congenital Anomalies of the Kidney and Urinary Tract
por: Gulyuz, Abdulgani, et al.
Publicado: (2023)

Case report: Diagnostic and therapeutic challenges of fungal endocarditis by Trichosporon asahii in a child with congenital heart defects
por: Baptistella, Amanda, et al.
Publicado: (2023)

Childhood Intra-Thoracic Tuberculosis Clinical Presentation Determines Yield of Laboratory Diagnostic Assays
por: Singh, Urvashi B., et al.
Publicado: (2021)

Delineating the Diagnostic Concordance Between Pediatric Lower Urinary Symptoms Scoring and Voiding Diary in Pediatric Lower Urinary Tract Dysfunction
por: Bayraktar, Necmi, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_9sulv4u413caei2o0pnmmh1ehc