Behnam Javanmardi
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View article: Population-specific calibration and validation of an open-source bone age AI
Population-specific calibration and validation of an open-source bone age AI Open
Assessing skeletal maturity through bone age (BA) evaluation is crucial for monitoring children’s growth and guiding treatments, such as hormonal therapy and orthopedic interventions. In recent years, artificial intelligence (AI) methods h…
View article: Stellar tidal streams around nearby spiral galaxies with deep imaging from amateur telescopes
Stellar tidal streams around nearby spiral galaxies with deep imaging from amateur telescopes Open
Context. Tidal interactions between massive galaxies and their satellites are fundamental processes in a universe with a Λ cold dark matter (ΛCDM) cosmology, and they redistribute material into faint features that preserve records of past …
View article: Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals Open
Background Rare bone diseases (RBDs) are an important group of conditions characterized by abnormalities in bone and cartilage. Their large number, individual rarity, and heterogeneity make accurate and timely diagnosis challenging. Establ…
View article: Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene Open
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing …
View article: Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics Open
Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group o…
View article: Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic <scp><i>BMPR1B</i></scp> Variant: Postaxial Polydactyly as a Novel Clinical Finding
Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic <span><i>BMPR1B</i></span> Variant: Postaxial Polydactyly as a Novel Clinical Finding Open
Background Acromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature. Here, we report a 2‐ye…
View article: GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders
GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders Open
The facial gestalt (overall facial morphology) is a characteristic clinical feature in many genetic disorders that is often essential for suspecting and establishing a specific diagnosis. For that reason, publishing images of individuals a…
View article: GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders
GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders Open
The facial gestalt (overall facial morphology) is a characteristic clinical feature in many genetic disorders that is often essential for suspecting and establishing a specific diagnosis. For that reason, publishing images of individuals a…
View article: GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases Open
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic p…
View article: Comparison of clinical geneticist and computer visual attention in assessing genetic conditions
Comparison of clinical geneticist and computer visual attention in assessing genetic conditions Open
Artificial intelligence (AI) for facial diagnostics is increasingly used in the genetics clinic to evaluate patients with potential genetic conditions. Current approaches focus on one type of AI called Deep Learning (DL). While DL- based f…
View article: Human and computer attention in assessing genetic conditions
Human and computer attention in assessing genetic conditions Open
Deep learning (DL) and other types of artificial intelligence (AI) are increasingly used in many biomedical areas, including genetics. One frequent use in medical genetics involves evaluating images of people with potential genetic conditi…
View article: GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases Open
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic p…
View article: Deeplasia: prior-free deep learning for pediatric bone age assessment robust to skeletal dysplasias
Deeplasia: prior-free deep learning for pediatric bone age assessment robust to skeletal dysplasias Open
Background Skeletal dysplasias collectively affect a large number of patients worldwide. The majority of these disorders cause growth anomalies. Hence, assessing skeletal maturity via determining the bone age (BA) is one of the most valuab…
View article: Hand mask for the RSNA bone age dataset
Hand mask for the RSNA bone age dataset Open
Masks for semantic segmentation of hands from scanned X-Rays in the RSNA Bone Age dataset (released for the RSNA Pediatric Bone Age Challenge in 2017). The masks were obtained manually using thresholding and edge detection and all masks we…
View article: Hand mask for the RSNA bone age dataset
Hand mask for the RSNA bone age dataset Open
Masks for semantic segmentation of hands from scanned X-Rays in the RSNA Bone Age dataset (released for the RSNA Pediatric Bone Age Challenge in 2017). The masks were obtained manually using thresholding and edge detection and all masks we…
View article: Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles
Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles Open
Rare genetic disorders affect more than 6% of the global population. Reaching a diagnosis is challenging because rare disorders are very diverse. Many disorders have recognizable facial features that are hints for clinicians to diagnose pa…
View article: Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learning
Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learning Open
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing …
View article: The High Fraction of Thin Disk Galaxies Continues to Challenge ΛCDM Cosmology
The High Fraction of Thin Disk Galaxies Continues to Challenge ΛCDM Cosmology Open
Any viable cosmological framework has to match the observed proportion of early- and late-type galaxies. In this contribution, we focus on the distribution of galaxy morphological types in the standard model of cosmology (Lambda cold dark …
View article: Tracing satellite planes in the Sculptor group
Tracing satellite planes in the Sculptor group Open
Context. In recent years, a new generation of large-scale imaging surveys have probed wide field regions for the first time around some nearby galaxies in an unprecedentedly low surface-brightness regime (∼28.0−29.0 mag arcsec −2 ). This p…
View article: Tracing satellite planes in the Sculptor group: I. Discovery of three faint dwarf galaxies around NGC 253
Tracing satellite planes in the Sculptor group: I. Discovery of three faint dwarf galaxies around NGC 253 Open
In the last years, a new generation of large-scale imaging surveys have probed wide field regions around some nearby galaxies at unprecedented low surface brightness regime (~28.0-29.0 mag arcsec^-2). This offers a chance of discovering ve…
View article: GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors
GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors Open
A large fraction of monogenic disorders causes craniofacial abnormalities with characteristic facial morphology. These disorders can be diagnosed more efficiently with the support of computer-aided next-generation phenotyping tools, such a…
View article: Panel1: Questions about Cepheid Analysis
Panel1: Questions about Cepheid Analysis Open
Panel Discussion
View article: Pulsating chromosphere of classical Cepheids
Pulsating chromosphere of classical Cepheids Open
Context. It has recently been shown that the infrared (IR) emission of Cepheids, constant over the pulsation cycle, might be due to a pulsating shell of ionized gas with a radius of about 15% of that of the star radius, which could be attr…
View article: Pulsating chromosphere of classical Cepheids. Calcium infrared triplet and H$α$ profile variations
Pulsating chromosphere of classical Cepheids. Calcium infrared triplet and H$α$ profile variations Open
It has been shown recently that the infrared emission of Cepheids, which is constant over the pulsation cycle, might be due to a pulsating shell of ionized gas of about 15\% of the stellar radius, which could be attributed to the chromosph…
View article: A correlation between the number of satellites and the bulge-to-total baryonic mass ratio extending beyond the Local Group
A correlation between the number of satellites and the bulge-to-total baryonic mass ratio extending beyond the Local Group Open
Recent observations of the fields surrounding a few Milky Way-like galaxies in the local Universe have become deep enough to enable investigations of the predictions of the standard lambda cold dark matter (ΛCDM) cosmological model down to…