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Matthew Edwards

Showing results (121-130 of 130) with videos related to

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Genome Medicine|October 23, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditionsKatherine S Josephs, Angharad M Roberts, Pantazis Theotokis, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Nature|July 22, 2011
An integrated semiconductor device enabling non-optical genome sequencingJonathan M Rothberg, Wolfgang Hinz, Todd M Rearick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
Human Mutation|June 22, 2017
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challengesRoxana Daneshjou, Yanran Wang, Yana Bromberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 8, 2022
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Pageof 13

Showing results (121-130 of 130) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 130 results.
Genome Medicine|October 23, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditionsKatherine S Josephs, Angharad M Roberts, Pantazis Theotokis, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Nature|July 22, 2011
An integrated semiconductor device enabling non-optical genome sequencingJonathan M Rothberg, Wolfgang Hinz, Todd M Rearick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
Human Mutation|June 22, 2017
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challengesRoxana Daneshjou, Yanran Wang, Yana Bromberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 8, 2022
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Pageof 13