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Human Genomics
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October 23, 2019
Using Apache Spark on genome assembly for scalable overlap-graph reduction
Alexander J Paul, Dylan Lawrence, Myoungkyu Song, et al.
Neurology. Genetics
|
December 16, 2022
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in <i>RFC1</i> Resulting in CANVAS Syndrome
Katherine Abell King, Daniel J Wegner, Robert C Bucelli, et al.
Bioinformatics (Oxford, England)
|
June 29, 2018
LONGO: an R package for interactive gene length dependent analysis for neuronal identity
Matthew J McCoy, Alexander J Paul, Matheus B Victor, et al.
American Journal of Medical Genetics. Part A
|
November 13, 2020
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses
Jorge L Granadillo, Daniel J Wegner, Alexander J Paul, et al.
Journal of Human Immunity
|
August 28, 2025
Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity
Erica G Schmitt, Nermina Saucier, Samuel I Risma, et al.
Molecular Genetics and Metabolism
|
January 1, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5
Marwan Shinawi, Daniel J Wegner, Alexander J Paul, et al.
American Journal of Respiratory Cell and Molecular Biology
|
December 29, 2023
Homozygous, Intragenic Tandem Duplication of <i>SFTPB</i> Causes Neonatal Respiratory Failure
Jennifer A Wambach, Daniel J Wegner, Joseph Kitzmiller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
European Journal of Human Genetics : EJHG
|
January 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder
Céline Jost, Tiffany Busa, Daniel Wegner, et al.
The Journal of Allergy and Clinical Immunology
|
February 22, 2026
Clinical relevance of mosaic variants detected by exome sequencing
Rajarshi Ghosh, Zeeshan Fazal, Andrew J Oler, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Human Genomics
|
October 23, 2019
Using Apache Spark on genome assembly for scalable overlap-graph reduction
Alexander J Paul, Dylan Lawrence, Myoungkyu Song, et al.
Neurology. Genetics
|
December 16, 2022
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in <i>RFC1</i> Resulting in CANVAS Syndrome
Katherine Abell King, Daniel J Wegner, Robert C Bucelli, et al.
Bioinformatics (Oxford, England)
|
June 29, 2018
LONGO: an R package for interactive gene length dependent analysis for neuronal identity
Matthew J McCoy, Alexander J Paul, Matheus B Victor, et al.
American Journal of Medical Genetics. Part A
|
November 13, 2020
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses
Jorge L Granadillo, Daniel J Wegner, Alexander J Paul, et al.
Journal of Human Immunity
|
August 28, 2025
Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity
Erica G Schmitt, Nermina Saucier, Samuel I Risma, et al.
Molecular Genetics and Metabolism
|
January 1, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5
Marwan Shinawi, Daniel J Wegner, Alexander J Paul, et al.
American Journal of Respiratory Cell and Molecular Biology
|
December 29, 2023
Homozygous, Intragenic Tandem Duplication of <i>SFTPB</i> Causes Neonatal Respiratory Failure
Jennifer A Wambach, Daniel J Wegner, Joseph Kitzmiller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
European Journal of Human Genetics : EJHG
|
January 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder
Céline Jost, Tiffany Busa, Daniel Wegner, et al.
The Journal of Allergy and Clinical Immunology
|
February 22, 2026
Clinical relevance of mosaic variants detected by exome sequencing
Rajarshi Ghosh, Zeeshan Fazal, Andrew J Oler, et al.
Page
of 2