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American Journal of Medical Genetics. Part A
|
December 21, 2013
Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy
Benjamin Kamien, James Harraway, Ben Lundie, et al.
Journal of Clinical Medicine
|
July 27, 2022
A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study
Lata Vadlamudi, Carmen Maree Bennett, Melanie Tom, et al.
The Journal of Molecular Diagnostics : JMD
|
December 20, 2025
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability
Ben Lundie, Sze Yee Chai, Alicia B Byrne, et al.
Genome Medicine
|
February 26, 2021
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Andre E Minoche, Ben Lundie, Greg B Peters, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 3, 2018
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
Andre E Minoche, Claire Horvat, Renee Johnson, et al.
American Journal of Human Genetics
|
June 6, 2025
Consultation informs strategies for improving the use of functional evidence in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 16, 2024
Consultation informs strategies to improve functional evidence use in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
European Journal of Human Genetics : EJHG
|
January 13, 2021
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
Amali C Mallawaarachchi, Ben Lundie, Yvonne Hort, et al.
Journal of Paediatrics and Child Health
|
February 10, 2021
Paediatric genomic testing: Navigating medicare rebatable genomic testing
Rani Sachdev, Mike Field, Gareth S Baynam, et al.
Human Genomics
|
August 17, 2024
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023
Amali Mallawaarachchi, Erik Biros, Trudie Harris, et al.
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of 2
Search research articles
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Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
December 21, 2013
Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy
Benjamin Kamien, James Harraway, Ben Lundie, et al.
Journal of Clinical Medicine
|
July 27, 2022
A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study
Lata Vadlamudi, Carmen Maree Bennett, Melanie Tom, et al.
The Journal of Molecular Diagnostics : JMD
|
December 20, 2025
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability
Ben Lundie, Sze Yee Chai, Alicia B Byrne, et al.
Genome Medicine
|
February 26, 2021
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Andre E Minoche, Ben Lundie, Greg B Peters, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 3, 2018
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
Andre E Minoche, Claire Horvat, Renee Johnson, et al.
American Journal of Human Genetics
|
June 6, 2025
Consultation informs strategies for improving the use of functional evidence in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 16, 2024
Consultation informs strategies to improve functional evidence use in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
European Journal of Human Genetics : EJHG
|
January 13, 2021
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
Amali C Mallawaarachchi, Ben Lundie, Yvonne Hort, et al.
Journal of Paediatrics and Child Health
|
February 10, 2021
Paediatric genomic testing: Navigating medicare rebatable genomic testing
Rani Sachdev, Mike Field, Gareth S Baynam, et al.
Human Genomics
|
August 17, 2024
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023
Amali Mallawaarachchi, Erik Biros, Trudie Harris, et al.
Page
of 2