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Lora Bean

Showing results (1-10 of 11) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington diseaseLora Bean, Pinar Bayrak-Toydemir
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2020
Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington diseaseLora Bean, Pinar Bayrak-Toydemir,
Annals of Clinical and Translational Neurology|October 15, 2020
Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathyBabi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, et al.
Human Mutation|March 1, 2021
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testingBabi R R Nallamilli, Alka Chaubey, C A Valencia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2023
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic testFen Guo, Ruby Liu, Yinghong Pan, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
JAMA Network Open|July 31, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and ChildrenJorune Balciuniene, Ruby Liu, Lora Bean, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardizationCeleste Eno, Pinar Bayrak-Toydemir, Lora Bean, et al.
Annals of Clinical and Translational Neurology|December 20, 2018
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patientsBabi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, et al.
The Journal of Molecular Diagnostics : JMD|April 6, 2024
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian SubcontinentArul J Duraisamy, Ruby Liu, Shruti Sureshkumar, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

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Pageof 2
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington diseaseLora Bean, Pinar Bayrak-Toydemir
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2020
Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington diseaseLora Bean, Pinar Bayrak-Toydemir,
Annals of Clinical and Translational Neurology|October 15, 2020
Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathyBabi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, et al.
Human Mutation|March 1, 2021
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testingBabi R R Nallamilli, Alka Chaubey, C A Valencia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2023
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic testFen Guo, Ruby Liu, Yinghong Pan, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
JAMA Network Open|July 31, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and ChildrenJorune Balciuniene, Ruby Liu, Lora Bean, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardizationCeleste Eno, Pinar Bayrak-Toydemir, Lora Bean, et al.
Annals of Clinical and Translational Neurology|December 20, 2018
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patientsBabi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, et al.
The Journal of Molecular Diagnostics : JMD|April 6, 2024
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian SubcontinentArul J Duraisamy, Ruby Liu, Shruti Sureshkumar, et al.
Pageof 2