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Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.NPJ Genomic Medicine|December 10, 2020
Missense variant contribution to USP9X-female syndromeLachlan A Jolly, Euan Parnell, Alison E Gardner, et al.American Journal of Human Genetics|May 16, 2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog SignalingThuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, 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.Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, 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.Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.Nature Medicine|June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.American Journal of Human Genetics|November 4, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretationEmma Tudini, James Andrews, David M Lawrence, et al.Pageof 4