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Sebastian Lunke

Showing results (91-100 of 117) with videos related to

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JCO Precision Oncology|February 1, 2022
Clinical Utility of Real-Time Targeted Molecular Profiling in the Clinical Management of Ovarian Cancer: The ALLOCATE StudyOlga Kondrashova, Gwo-Yaw Ho, George Au-Yeung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 17, 2020
Clinical impact of genomic testing in patients with suspected monogenic kidney diseaseKushani Jayasinghe, Zornitza Stark, Peter G Kerr, et al.
Nature Communications|April 2, 2015
Tracking the origins and drivers of subclonal metastatic expansion in prostate cancerMatthew K H Hong, Geoff Macintyre, David C Wedge, et al.
Human Genomics|August 17, 2024
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023Amali Mallawaarachchi, Erik Biros, Trudie Harris, et al.
Nature Medicine|October 9, 2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening studySebastian Lunke, Lilian Downie, Jade Caruana, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Brain : a Journal of Neurology|May 27, 2017
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolismRadha Desai, Ann E Frazier, Romina Durigon, et al.
Journal of the Neurological Sciences|December 14, 2020
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspectiveDhamidhu Eratne, Amy Schneider, Ella Lynch, et al.
The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Pageof 12

Showing results (91-100 of 117) with videos related to

Sort By:
Pageof 12
JCO Precision Oncology|February 1, 2022
Clinical Utility of Real-Time Targeted Molecular Profiling in the Clinical Management of Ovarian Cancer: The ALLOCATE StudyOlga Kondrashova, Gwo-Yaw Ho, George Au-Yeung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 17, 2020
Clinical impact of genomic testing in patients with suspected monogenic kidney diseaseKushani Jayasinghe, Zornitza Stark, Peter G Kerr, et al.
Nature Communications|April 2, 2015
Tracking the origins and drivers of subclonal metastatic expansion in prostate cancerMatthew K H Hong, Geoff Macintyre, David C Wedge, et al.
Human Genomics|August 17, 2024
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023Amali Mallawaarachchi, Erik Biros, Trudie Harris, et al.
Nature Medicine|October 9, 2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening studySebastian Lunke, Lilian Downie, Jade Caruana, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Brain : a Journal of Neurology|May 27, 2017
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolismRadha Desai, Ann E Frazier, Romina Durigon, et al.
Journal of the Neurological Sciences|December 14, 2020
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspectiveDhamidhu Eratne, Amy Schneider, Ella Lynch, et al.
The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Pageof 12