A5062414337- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Cystic Fibrosis Research Advances
- Congenital heart defects research
- COVID-19 Impact on Reproduction
- Neonatal Health and Biochemistry
- Neonatal and fetal brain pathology
- Immunodeficiency and Autoimmune Disorders
- Pediatric Hepatobiliary Diseases and Treatments
- Neonatal Respiratory Health Research
- DNA Repair Mechanisms
- RNA modifications and cancer
- Muscle metabolism and nutrition
- Tracheal and airway disorders
- Blood disorders and treatments
- Congenital Heart Disease Studies
- Congenital Ear and Nasal Anomalies
- Sperm and Testicular Function
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Infective Endocarditis Diagnosis and Management
- Sexual Differentiation and Disorders
- Hormonal and reproductive studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Maternal Mental Health During Pregnancy and Postpartum
Children's Hospital of Fudan University
2019-2024
Guangxi Medical University
2015-2020
First Affiliated Hospital of GuangXi Medical University
2016-2020
Fudan University
2019-2020
X-Fab (Germany)
2018
Guilin Medical University
2016
Zhejiang Provincial Hospital of TCM
2015
David Baud, MD, PhD; Gilbert Greub, Guillaume Favre, MD; Carole Gengler, Katia Jaton, Estelle Dubruc, Léo Pomar, MSc
OBJECTIVES: To determine the diagnostic and clinical utility of trio-rapid genome sequencing in critically ill infants. DESIGN: In this prospective study, samples from infants were analyzed using both proband-only exome (proband biological parents). The study occurred between April 2019 December 2019. SETTING: Thirteen member hospitals China Neonatal Genomes Project spanning 10 provinces involved. PARTICIPANTS: Critically ( n = 202), birth up until 13 months life enrolled based on...
Objectives Central nervous system (CNS) infection has a high incidence and mortality in neonates, but conventional tests are time-consuming have low sensitivity. Some rare genetic diseases may some similar clinical manifestations as CNS infection. Therefore, we aimed to evaluate the performance of metagenomic next-generation sequencing (mNGS) diagnosing neonatal explore etiology suspected by combining mNGS with whole exome (WES). Methods We prospectively enrolled neonates who were admitted...
Abstract Background Cystic fibrosis (CF) is a common, life-threatening genetic disease in Caucasians but rarely reported Chinese population. The prevalence and population-specific spectrum of CF China needs to be systematically estimated compared with Caucasians. Materials methods We reviewed 30,951 exome-sequencing samples, including 20,909 pediatric patient samples 10,042 parent from Children's Rare Disease Genetic Testing Clinical Collaboration System (CCGT). After the in-lab filtration...
Multiple congenital anomalies (MCAs) at birth have emerged as an important cause of neonatal morbidity and mortality. This study aimed to investigate the genetic causes characteristics clinical outcomes in a large cohort neonates with MCAs. Clinical exome sequencing/exome sequencing/genome sequencing were undertaken from December 1, 2016 2019 detect single nucleotide variations (SNVs) copy number (CNVs) simultaneously individuals who met inclusion criteria. A total 588 MCAs enrolled. One...
The abnormality of DNA methylation is one the major epigenetic alterations in human hepatocellular carcinoma (HCC). We have assessed global genomic profiles HCC patients by using Infinium Human Methylation27 BeadChip. A CpG loci S100A8 was found to be significantly hypomethylated HCC.Pooled meta-analysis five validation public datasets demonstrated its level lower for compared paired adjacent normal tissues. Quantitative pyrosequencing analysis also showed that decreased cancer tissues...
Importance Neonatal seizures pose a significant challenge in critical care, and continuous video electroencephalography (cEEG) monitoring holds promise for early detection of seizures. However, large-scale data on the incidence neonatal systems China are lacking. Objectives To determine infants with high risk China. Design, Setting, Participants A large, cross-sectional multicenter study was conducted from January 2017 to December 2018 intensive care units (NICUs) 7 tertiary medical centers...
We collected neonatal neurological, clinical, and imaging data to study the neurological manifestations characteristics of neonates with coronavirus disease 2019 (COVID-19). This case–control included newborns diagnosed COVID-19 in Wuhan, China from January 2020 July 2020. All had complete evaluations head magnetic resonance imaging. normalized extracted T2-weighted a standard neonate template space, segmented them into gray matter, white cerebrospinal fluid. The comparison matter volume was...
Background Congenital heart defects (CHDs) are the most common type of birth defects. The genetic aetiology CHD is complex and incompletely understood. overall distribution causes in patients with from neonatal intensive care units (NICUs) needs to be studied. Methods cases were extracted China Neonatal Genomes Project (2016–2021). Next-generation sequencing results medical records retrospectively evaluated note frequency diagnosis respective patient outcomes. Results In total, 1795...
PARP-1 (poly(ADP-ribose) polymerase-1) plays an important role in tumorigenesis. Since its effects on different populations are varied, this study investigated the impact of primary hepatocellular carcinoma a Southern Chinese Zhuang population. We assessed global messenger RNA expression patients with using The Cancer Genome Atlas dataset. Increased expression, related to alpha-fetoprotein level, was observed. area under receiver operating characteristic curve value 0.833. Kaplan–Meier...
FLNC encodes actin-binding protein and is mainly concentrated in skeletal cardiac muscle. Mutations were found cardiomyopathies. To date, studies on FLNC-cardiomyopathies have been reported adults. There are limited that investigated variants pediatric patients with cardiomyopathies.We summarized the who carried rare of from May 2016 to 2019 Center for Molecular Medicine, Children's Hospital Fudan University, clinical exome sequencing data.A total 5 included. Of them, 3 male 2 female. The...
Objectives: The aim of this study was to observe the effect COVID-19 prevention and control measures on transmission common respiratory viruses in a pediatric population. Methods: This retrospective observational study. population selected from children with diseases who attended Xiamen Children's Hospital January 1, 2018 31, 2021. All were screened for influenza virus, parainfluenza syncytial virus (RSV), adenovirus, Severe acute syndrome coronavirus 2 (SARS-CoV-2). changes detection rates...
Importance A growing number of children are conceived with assisted reproductive technology (ART). However, there is a lack studies systematically analyzing the genetic landscape live-born through ART who need intensive care in neonatal period. Objective To investigate incidence and type molecular defects among neonates units (NICUs) suspected conditions. Design, Setting, Participants This was cross-sectional study using data from China Neonatal Genomes Project, multicenter national genome...
Background: This study sought to analyze the clinical characteristics, biochemical metabolic indications, treatment results, and genetic spectrum of cerebral creatine deficiency syndrome (CCDS), estimate prevalence CCDS in Chinese children provide a reference guide practice. Methods: We performed retrospective cohort 3,568 with developmental delay at Children's Hospital Fudan University over 6-year period (January 2017–December 2022). Metabolites blood/urine were detected by liquid...