A5071320029- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Neonatal and fetal brain pathology
- Epilepsy research and treatment
- Advanced biosensing and bioanalysis techniques
- Immunodeficiency and Autoimmune Disorders
- Molecular Biology Techniques and Applications
- Food Allergy and Anaphylaxis Research
- Bacteriophages and microbial interactions
- Maternal Mental Health During Pregnancy and Postpartum
- Pharmacological Effects and Toxicity Studies
- CRISPR and Genetic Engineering
- Obsessive-Compulsive Spectrum Disorders
- Congenital heart defects research
- Genomics and Chromatin Dynamics
- Genomics and Rare Diseases
- Antimicrobial Peptides and Activities
- Probiotics and Fermented Foods
Beijing Children’s Hospital
2010-2024
Capital Medical University
2010-2024
Qingdao National Laboratory for Marine Science and Technology
2018
Fujian Institute of Oceanography
2018
Abstract Background The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations. Methods We retrospectively analyzed information testing results a family in an outpatient clinic August 2020 summarized characteristics mutations conjunction with peer‐reviewed reports. Results A 4‐year‐old boy was diagnosed severe developmental delay specific (large head, full cheeks, high hairline, low‐set ear, sparse eyebrows, short neck) similar his...
Abstract MARK2 , a member of the evolutionarily conserved PAR1/MARK serine/threonine kinase family, has been identified as novel risk gene for autism spectrum disorder (ASD) based on enrichment de novo loss-of-function (Lof) variants in large-scale sequencing studies ASD individuals. However, features shared by affected individuals and molecular mechanism during early neural development remained unclear. Here, we report 31 carrying heterozygous presenting with ASD, other neurodevelopmental...
To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, provide reference for diagnosis disease.The was subjected to next generation sequencing (NGS), made taking consideration her characteristics.The has presented global developmental delay, particularly in fine motor skill language development, addition intellectual disability. Genetic testing revealed that she harbored heterozygous c.1861dup variant gene, which not...