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Philip M Boone

Showing results (31-40 of 42) with videos related to

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Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
Biorxiv : the Preprint Server for Biology|September 8, 2025
Aberrant recursive splicing in a human disease locusPhilip M Boone, Ricardo Harripaul, Rachita Yadav, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2020
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variantsLi Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersAsbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
Pageof 5

Showing results (31-40 of 42) with videos related to

Sort By:
Pageof 5
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
Biorxiv : the Preprint Server for Biology|September 8, 2025
Aberrant recursive splicing in a human disease locusPhilip M Boone, Ricardo Harripaul, Rachita Yadav, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2020
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variantsLi Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersAsbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
Pageof 5