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Roddy Walsh

Showing results (51-60 of 89) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2018
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretationNicola Whiffin, Roddy Walsh, Risha Govind, et al.
Human Mutation|June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathyMegan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Circulation. Genomic and Precision Medicine|January 26, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesJodie Ingles, Jennifer Goldstein, Courtney Thaxton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2018
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yieldKate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
Nature Genetics|August 29, 2024
Rare coding variant analysis for human diseases across biobanks and ancestriesSean J Jurgens, Xin Wang, Seung Hoan Choi, et al.
Genome Medicine|January 31, 2019
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathyRoddy Walsh, Francesco Mazzarotto, Nicola Whiffin, et al.
NPJ Genomic Medicine|October 28, 2020
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohortYasmine Aguib, Mona Allouba, Alaa Afify, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologiesFrancesco Mazzarotto, Megan H Hawley, Matteo Beltrami, et al.
Heart Rhythm|July 4, 2020
Common and rare susceptibility genetic variants predisposing to Brugada syndrome in ThailandPattarapong Makarawate, Charlotte Glinge, Apichai Khongphatthanayothin, et al.
Pageof 9

Showing results (51-60 of 89) with videos related to

Sort By:
Pageof 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2018
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretationNicola Whiffin, Roddy Walsh, Risha Govind, et al.
Human Mutation|June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathyMegan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Circulation. Genomic and Precision Medicine|January 26, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesJodie Ingles, Jennifer Goldstein, Courtney Thaxton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2018
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yieldKate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
Nature Genetics|August 29, 2024
Rare coding variant analysis for human diseases across biobanks and ancestriesSean J Jurgens, Xin Wang, Seung Hoan Choi, et al.
Genome Medicine|January 31, 2019
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathyRoddy Walsh, Francesco Mazzarotto, Nicola Whiffin, et al.
NPJ Genomic Medicine|October 28, 2020
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohortYasmine Aguib, Mona Allouba, Alaa Afify, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologiesFrancesco Mazzarotto, Megan H Hawley, Matteo Beltrami, et al.
Heart Rhythm|July 4, 2020
Common and rare susceptibility genetic variants predisposing to Brugada syndrome in ThailandPattarapong Makarawate, Charlotte Glinge, Apichai Khongphatthanayothin, et al.
Pageof 9