Maxime Douillet
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Enhancing Longitudinal Data Analysis with Unstructured EHRs: A Case Study of Renal Function Evaluation in Rare Disease Open
Electronic Health Records (EHRs) provide valuable longitudinal data for tracking disease progression, especially in rare diseases like ciliopathies which often involve chronic renal decline. While important biomarkers are available in stru…
View article: Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes
Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes Open
Objective Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses—=CHARGE and Mandibulo‐Facial Dysostosis Guion Almeida type (MFDGA)—versus controls. Method We trained an automatic mod…
View article: AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes Open
Introduction Mandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing …
View article: The Smart Data Extractor, a Clinician Friendly Solution to Accelerate and Improve the Data Collection During Clinical Trials
The Smart Data Extractor, a Clinician Friendly Solution to Accelerate and Improve the Data Collection During Clinical Trials Open
In medical research, the traditional way to collect data, i.e. browsing patient files, has been proven to induce bias, errors, human labor and costs. We propose a semi-automated system able to extract every type of data, including notes. T…
View article: An automatic facial landmarking for children with rare diseases
An automatic facial landmarking for children with rare diseases Open
Two to three thousand syndromes modify facial features: their screening requires the eye of an expert in dysmorphology. A widely used tool in shape characterization is geometric morphometrics based on landmarks, which are precise and repro…
Using Deep Learning to Improve Phenotyping from Clinical Reports Open
With the development of clinical databases and the ubiquity of EHRs, physicians and researchers alike have access to an unprecedented amount of data. Complexity of the available data has also increased since clinical reports are also inclu…