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Christopher M Grochowski

Showing results (41-50 of 72) with videos related to

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Nucleic Acids Research|December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataHaowei Du, Zain Dardas, Angad Jolly, et al.
Genome Medicine|April 3, 2024
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxyZain Dardas, Jawid M Fatih, Angad Jolly, et al.
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
Genome Medicine|December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian familiesHaowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2020
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditionsTomasz Gambin, Qian Liu, Justyna A Karolak, et al.
American Journal of Medical Genetics. Part A|January 4, 2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephalyMoez Dawood, Gulsen Akay, Tadahiro Mitani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2023
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Ozgur Cogulu, Davut Pehlivan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2022
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Muhsin Ö Cogulu, Davut Pehlivan, et al.
Genome Medicine|October 28, 2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variationHaowei Du, Angad Jolly, Christopher M Grochowski, et al.
Pageof 8

Showing results (41-50 of 72) with videos related to

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Pageof 8
Nucleic Acids Research|December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataHaowei Du, Zain Dardas, Angad Jolly, et al.
Genome Medicine|April 3, 2024
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxyZain Dardas, Jawid M Fatih, Angad Jolly, et al.
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
Genome Medicine|December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian familiesHaowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2020
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditionsTomasz Gambin, Qian Liu, Justyna A Karolak, et al.
American Journal of Medical Genetics. Part A|January 4, 2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephalyMoez Dawood, Gulsen Akay, Tadahiro Mitani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2023
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Ozgur Cogulu, Davut Pehlivan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2022
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Muhsin Ö Cogulu, Davut Pehlivan, et al.
Genome Medicine|October 28, 2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variationHaowei Du, Angad Jolly, Christopher M Grochowski, et al.
Pageof 8