Dysmorphology is the practice of defining the morphologic phenotype of syndromic disorders. Genomic sequencing has advanced our understanding of human variation and molecular dysmorphology has evolved in response to the science of relating embryologi...
OBJECTIVE: Economic assessments of newborn screening programs for rare diseases involve the use of models and require huge efforts to synthesize information from different sources. Sharing and automatically or semi-automatically reusing this informat...
Retinopathy of prematurity (ROP) is the leading cause of childhood blindness in very-low-birthweight and very preterm infants in the United States. With improved survival of smaller babies, more infants are at risk for ROP, yet there is an increasing...
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for ...
Over the past fifty years, neonatal screening has become essential in the public health programs of a large number of countries. During all these years, the number of detectable diseases has continued to grow, following the possibilities offered by t...
IMPORTANCE: A retinopathy of prematurity (ROP) diagnosis currently relies on indirect ophthalmoscopy assessed by experienced ophthalmologists. A deep learning algorithm based on retinal images may facilitate early detection and timely treatment of RO...
BACKGROUND: Babies born early and/or small for gestational age in Low and Middle-income countries (LMICs) contribute substantially to global neonatal and infant mortality. Tracking this metric is critical at a population level for informed policy, ad...
Artificial intelligence (AI) applications are diverse and serve varied functions in clinical practice. The most successful products today are clinical decision tools used by physicians, but autonomous AI is gaining traction. Widespread use of AI is l...
OBJECTIVE: The Dutch Congenital hypothyroidism (CH) Newborn Screening (NBS) algorithm for thyroidal and central congenital hypothyroidism (CH-T and CH-C, respectively) is primarily based on determination of thyroxine (T4) concentrations in dried bloo...