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Sebastian Lunke

Showing results (61-70 of 117) with videos related to

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European Journal of Human Genetics : EJHG|May 25, 2024
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics servicesStephanie Best, Zoe Fehlberg, Christopher Richards, et al.
Journal of Paediatrics and Child Health|July 5, 2025
Genomic Screening Consortium for Australian Newborns (GenSCAN)Natalie Taylor, Michelle Pirreca, Bruce Bennetts, et al.
American Journal of Human Genetics|February 5, 2026
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and educationAmy Nisselle, Douglas Liddicoat, Corrina Cliffe, et al.
Orphanet Journal of Rare Diseases|September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung diseaseSuzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysisTiong Yang Tan, Sebastian Lunke, Belinda Chong, et al.
JIMD Reports|April 18, 2022
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studiesLauren S Akesson, Rocio Rius, Natasha J Brown, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 16, 2024
Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomesMelissa Martyn, Ling Lee, Alli Jan, et al.
BMJ Open|June 3, 2023
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocolSophie E Bouffler, Ling Lee, Fiona Lynch, et al.
JAMA Neurology|March 7, 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A ReviewSarah U Morton, John Christodoulou, Gregory Costain, et al.
Pageof 12

Showing results (61-70 of 117) with videos related to

Sort By:
Pageof 12
European Journal of Human Genetics : EJHG|May 25, 2024
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics servicesStephanie Best, Zoe Fehlberg, Christopher Richards, et al.
Journal of Paediatrics and Child Health|July 5, 2025
Genomic Screening Consortium for Australian Newborns (GenSCAN)Natalie Taylor, Michelle Pirreca, Bruce Bennetts, et al.
American Journal of Human Genetics|February 5, 2026
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and educationAmy Nisselle, Douglas Liddicoat, Corrina Cliffe, et al.
Orphanet Journal of Rare Diseases|September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung diseaseSuzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysisTiong Yang Tan, Sebastian Lunke, Belinda Chong, et al.
JIMD Reports|April 18, 2022
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studiesLauren S Akesson, Rocio Rius, Natasha J Brown, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 16, 2024
Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomesMelissa Martyn, Ling Lee, Alli Jan, et al.
BMJ Open|June 3, 2023
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocolSophie E Bouffler, Ling Lee, Fiona Lynch, et al.
JAMA Neurology|March 7, 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A ReviewSarah U Morton, John Christodoulou, Gregory Costain, et al.
Pageof 12