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Edward J Higginbotham

Showing results (1-10 of 17) with videos related to

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Genome Research|October 29, 2024
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencingJesper Eisfeldt, Edward J Higginbotham, Felix Lenner, et al.
NPJ Genomic Medicine|January 13, 2022
Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delayYi Liu, Yuqiang Lv, Mehdi Zarrei, et al.
Clinical Genetics|December 29, 2025
Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related PhenotypeKirk A J Stephenson, Zhuo Shao, Anupreet Tumber, et al.
NPJ Genomic Medicine|June 5, 2026
Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosisLaura Raiti, Kyoko E Yuki, Lise Cinq-Mars, et al.
Journal of Medical Genetics|September 14, 2019
Impact of DNA source on genetic variant detection from human whole-genome sequencing dataBrett Trost, Susan Walker, Syed A Haider, et al.
NPJ Genomic Medicine|November 19, 2021
Homozygous duplication identified by whole genome sequencing causes LRBA deficiencyDaniele Merico, Yehonatan Pasternak, Mehdi Zarrei, et al.
Translational Psychiatry|June 6, 2022
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorderAndré Luíz Teles E Silva, Talita Glaser, Karina Griesi-Oliveira, et al.
Human Genetics|November 15, 2022
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencingQiliang Ding, Cherith Somerville, Roozbeh Manshaei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsyMehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, et al.
Human Molecular Genetics|May 8, 2023
Gene copy number variation and pediatric mental health/neurodevelopment in a general populationMehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
Genome Research|October 29, 2024
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencingJesper Eisfeldt, Edward J Higginbotham, Felix Lenner, et al.
NPJ Genomic Medicine|January 13, 2022
Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delayYi Liu, Yuqiang Lv, Mehdi Zarrei, et al.
Clinical Genetics|December 29, 2025
Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related PhenotypeKirk A J Stephenson, Zhuo Shao, Anupreet Tumber, et al.
NPJ Genomic Medicine|June 5, 2026
Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosisLaura Raiti, Kyoko E Yuki, Lise Cinq-Mars, et al.
Journal of Medical Genetics|September 14, 2019
Impact of DNA source on genetic variant detection from human whole-genome sequencing dataBrett Trost, Susan Walker, Syed A Haider, et al.
NPJ Genomic Medicine|November 19, 2021
Homozygous duplication identified by whole genome sequencing causes LRBA deficiencyDaniele Merico, Yehonatan Pasternak, Mehdi Zarrei, et al.
Translational Psychiatry|June 6, 2022
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorderAndré Luíz Teles E Silva, Talita Glaser, Karina Griesi-Oliveira, et al.
Human Genetics|November 15, 2022
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencingQiliang Ding, Cherith Somerville, Roozbeh Manshaei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsyMehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, et al.
Human Molecular Genetics|May 8, 2023
Gene copy number variation and pediatric mental health/neurodevelopment in a general populationMehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
Pageof 2