Antonie D. Kline
A5009948005- Genomics and Chromatin Dynamics
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Tumors and Oncological Cases
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Neurogenetic and Muscular Disorders Research
- Epigenetics and DNA Methylation
- Cancer-related molecular mechanisms research
- Cancer-related gene regulation
- BRCA gene mutations in cancer
- Connective tissue disorders research
- Molecular Biology Techniques and Applications
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer Genomics and Diagnostics
- RNA regulation and disease
- Plant Molecular Biology Research
- Genetic and Kidney Cyst Diseases
- Congenital heart defects research
- Ethics and Legal Issues in Pediatric Healthcare
- Hedgehog Signaling Pathway Studies
Greater Baltimore Medical Center
2016-2025
Genomics (United Kingdom)
2016
National Center on Birth Defects and Developmental Disabilities
2010-2012
Children's Hospital of Philadelphia
2010
Icahn School of Medicine at Mount Sinai
2010
University of Pennsylvania
2010
Tokyo Institute of Technology
2010
Cornelia de Lange Syndrome Foundation
2010
Research Institute for Genetic and Human Therapy
2005-2010
Institute of Human Genetics
2007
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease.Mutations in NIPBL, encoding cohesin regulatory protein, account for >80% of cases typical facies.Mutations the core complex proteins, encoded by SMC1A, SMC3 RAD21 genes, together ∼5% subjects, often atypical CdLS features.Recently, we identified mutations X-linked gene HDAC8 as cause small number...
Abstract Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous these...
Abstract Cornelia de Lange syndrome (CdLS) is a dominant disorder with classic severe forms and milder atypical variants. Central to making the diagnosis identification of diagnostic facial features. With recognition that patients SMC1A SMC3 mutations have milder, features, we surveyed 65 dysmorphologists using photographs from 32 CdLS goals (1) Illustrating examples (2) Obtaining objective data determine which features were useful misleading in CdLS. Clinicians whether patient had or...
Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) its regulators (NIPBL, HDAC8), account for at least 70% patients with CdLS or CdLS-like phenotypes. To date, only clinical features from a single patient SMC3 mutation has been published. Here, we report efforts an international research...
Noonan syndrome (NS) is a common genetic associated with gain of function variants in genes the Ras/MAPK pathway. The phenotype NS has been well characterized populations European descent less attention given to other groups. In this study, individuals from diverse were evaluated clinically and by facial analysis technology. Clinical data images 125 obtained 20 countries an average age 8 years female composition 46%. Individuals grouped into categories African (African), Asian, Latin...
We report a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). describe two probands: one with de novo frameshift (NM_002140.3: c.953+1dup), and other splice donor site variant c.257G>A). Both probands have intellectual disability, shared unique craniofacial phenotype, connective tissue skeletal abnormalities. The identification of this was made possible by online tool, GeneMatcher, which facilitates connections between clinicians...
Hypermobile Ehlers‐Danlos syndrome (hEDS) is a hereditary disorder of connective tissue, often presenting with complex symptoms can include chronic pain, fatigue, and dysautonomia. Factors influencing functional disability in the pediatric hEDS population are incompletely studied. This study's aims were to assess factors that affect quality life children adolescents hEDS. Individuals between ages 12–20 years matched parents recruited through retrospective chart review at two genetics...
<h3>Background</h3> Joubert syndrome (JS) is a ciliopathy characterised by distinctive brain malformation (the 'molar tooth sign'), developmental delay, abnormal eye movements and breathing pattern. Retinal dystrophy, cystic kidney disease, liver fibrosis polydactyly are variably present, resulting in significant phenotypic heterogeneity overlap with other ciliopathies. JS also genetically heterogeneous, from mutations 13 genes. These factors render clinical/molecular diagnosis management...
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge anteverted nares, long philtrum, thin lips, micrognathia, hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, upper limb anomalies. This study looked at from diverse populations both clinical...
ABSTRACT HNRNPU ‐related neurodevelopmental disorder ( ‐NDD) is caused by pathogenic and likely variants in . With increasing accessibility to advanced genetic investigations, children presenting with developmental delay intellectual disability will often undergo genomic testing; hence, the number of patients found be affected ‐NDD increasing. We document a cohort 17 previously unpublished variants, including first familial case, building on those published our group. A comprehensive...
ABSTRACT Cornelia de Lange syndrome (CdLS) is a rare disorder associated with developmental delay, intellectual disability, autism features, and behavior regulation difficulties. CdLS has been considered to be spectrum that ranges from classical atypical involvement. The severity of based on physical features greater neurological abnormalities hearing impairment; however, the relationship between behavioral phenotype not examined. This study utilized data collected through Coordination Rare...