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Pilar Cacheiro

Showing results (21-30 of 29) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian DisordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
American Journal of Human Genetics|December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 25, 2022
Prenatal phenotyping: A community effort to enhance the Human Phenotype OntologyFerdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, et al.
HGG Advances|October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Nature Communications|February 2, 2020
Human and mouse essentiality screens as a resource for disease gene discoveryPilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A Murray, et al.
Nature Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian DisordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
American Journal of Human Genetics|December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 25, 2022
Prenatal phenotyping: A community effort to enhance the Human Phenotype OntologyFerdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, et al.
HGG Advances|October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Nature Communications|February 2, 2020
Human and mouse essentiality screens as a resource for disease gene discoveryPilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A Murray, et al.
Nature Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
Pageof 3