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American Journal of Medical Genetics. Part A
|
September 19, 2025
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S Arterbery, et al.
Bioinformatics Advances
|
April 5, 2024
Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning
Luca Cappelletti, Lauren Rekerle, Tommaso Fontana, et al.
Plos One
|
May 17, 2023
Phenopacket-tools: Building and validating GA4GH Phenopackets
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 6, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics
Adam S Arterbery, Michael A Gargano, Anita M Bagley, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders
Lauren Rekerle, Daniel Danis, Filip Rehburg, et al.
American Journal of Human Genetics
|
December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders
Lauren Rekerle, Daniel Danis, Filip Rehburg, et al.
Nucleic Acids Research
|
November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world
Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
American Journal of Medical Genetics. Part A
|
September 19, 2025
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S Arterbery, et al.
Bioinformatics Advances
|
April 5, 2024
Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning
Luca Cappelletti, Lauren Rekerle, Tommaso Fontana, et al.
Plos One
|
May 17, 2023
Phenopacket-tools: Building and validating GA4GH Phenopackets
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 6, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics
Adam S Arterbery, Michael A Gargano, Anita M Bagley, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders
Lauren Rekerle, Daniel Danis, Filip Rehburg, et al.
American Journal of Human Genetics
|
December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders
Lauren Rekerle, Daniel Danis, Filip Rehburg, et al.
Nucleic Acids Research
|
November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world
Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.
Page
of 1