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Shifeng Xue

Showing results (11-20 of 23) with videos related to

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Journal of Human Genetics|December 3, 2021
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndromeHammal Khan, Angie En Qi Chong, Muhammad Bilal, et al.
Genome Research|March 23, 2026
Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2EndLucinda C Xiao, Ayush Semwal, Brianna St John, et al.
BMC Biology|November 10, 2023
Deep transcriptome profiling reveals limited conservation of A-to-I RNA editing in XenopusTram Anh Nguyen, Jia Wei Joel Heng, Yan Ting Ng, et al.
Biomedicines|July 2, 2021
AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia SyndromeCamille Laberthonnière, Elva Maria Novoa-Del-Toro, Raphaël Chevalier, et al.
Nucleic Acids Research|June 19, 2023
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotypeCamille Laberthonnière, Mégane Delourme, Raphaël Chevalier, et al.
Nature Methods|June 13, 2022
Direct identification of A-to-I editing sites with nanopore native RNA sequencingTram Anh Nguyen, Jia Wei Joel Heng, Pornchai Kaewsapsak, et al.
American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Nucleic Acids Research|January 31, 2019
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatelliteCamille Dion, Stéphane Roche, Camille Laberthonnière, et al.
Nature Communications|September 25, 2023
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in diseaseAndres Tapia Del Fierro, Bianca den Hamer, Natalia Benetti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 26, 2024
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformationsAlinoë Lavillaureix, Paul Rollier, Artem Kim, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Journal of Human Genetics|December 3, 2021
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndromeHammal Khan, Angie En Qi Chong, Muhammad Bilal, et al.
Genome Research|March 23, 2026
Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2EndLucinda C Xiao, Ayush Semwal, Brianna St John, et al.
BMC Biology|November 10, 2023
Deep transcriptome profiling reveals limited conservation of A-to-I RNA editing in XenopusTram Anh Nguyen, Jia Wei Joel Heng, Yan Ting Ng, et al.
Biomedicines|July 2, 2021
AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia SyndromeCamille Laberthonnière, Elva Maria Novoa-Del-Toro, Raphaël Chevalier, et al.
Nucleic Acids Research|June 19, 2023
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotypeCamille Laberthonnière, Mégane Delourme, Raphaël Chevalier, et al.
Nature Methods|June 13, 2022
Direct identification of A-to-I editing sites with nanopore native RNA sequencingTram Anh Nguyen, Jia Wei Joel Heng, Pornchai Kaewsapsak, et al.
American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Nucleic Acids Research|January 31, 2019
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatelliteCamille Dion, Stéphane Roche, Camille Laberthonnière, et al.
Nature Communications|September 25, 2023
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in diseaseAndres Tapia Del Fierro, Bianca den Hamer, Natalia Benetti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 26, 2024
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformationsAlinoë Lavillaureix, Paul Rollier, Artem Kim, et al.
Pageof 3