Tiong Yang Tan

A cost-effectiveness and utility analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

A Yeung, NB Tan, TY Tan, Z Stark, N Brown, MJ Hunter, M Delatycki, C Stutterd, R Savarirayan, G McGillivray, R Stapleton, S Kumble, L Downie, M Regan, S Lunke, B Chong, D Phelan, G Brett, A Jarmolowicz, Y Prawer, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Functional genomics and extended analyses of unsolved exome-negative cases through the Undiagnosed Diseases Project in Victoria (UDP-Vic)

TY Tan, T Cloney, NB Tan, L Gallacher, J Elliott, G Helman, C Simons, S Sadedin, L Pais, A O'Donnell-Luria, J Christodoulou, SM White

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Biallelic loss-of-function NRROS variants impairing active TGF-ss 1 delivery cause a severe infantile onset neurodegenerative condition with intracranial calcification

X Dong, NB Tan, KB Howell, S Barresi, L Freeman, D Vecchio, M Piccione, F Clementina Radio, D Calame, S Zong, S Eggers, IE Scheffer, TY Tan, NJ Van Bergen, M Tartaglia, J Christodoulou, SM White

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

Guy Helman, Alison G Compton, Daniella H Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Y Tan, Ricardo De Paoli-Iseppi, Michael B Clark, John Christodoulou, Susan M White, David R Thorburn, David A Stroud, Zornitza Stark, Cas Simons

Journal article  |  2020  |  HUMAN MUTATION

The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging and often unmet nee..

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

Natalie B Tan, Rachel Stapleton, Zornitza Stark, Martin B Delatycki, Alison Yeung, Matthew F Hunter, David J Amor, Natasha J Brown, Chloe A Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul Fernandez, Justine Marum, Dean Phelan, Lynn S Pais, Susan M White, Sebastian Lunke, Tiong Y Tan

Journal article  |  2020  |  MOLECULAR GENETICS & GENOMIC MEDICINE

Background Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases re..

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, Emanuela Leonardi, Tiong Y Tan, David Coman, Benjamin Kamien, Susan M White, Miya St John, Dean Phelan, Kristin Rigbye, Sze Chern Lim, Michelle C Torres, Melanie Marty, Elena Savva, Teresa Zhao, Sean Massey, Alessandra Murgia, Wendy A Gold, John Christodoulou

Journal article  |  2020  |  JOURNAL OF GENETICS AND GENOMICS

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Alison Yeung, Natalie B Tan, Tiong Y Tan, Zornitza Stark, Natasha Brown, Matthew F Hunter, Martin Delatycki, Chloe Stutterd, Ravi Savarirayan, George Mcgillivray, Rachel Stapleton, Smitha Kumble, Lilian Downie, Matthew Regan, Sebastian Lunke, Belinda Chong, Dean Phelan, Gemma R Brett, Anna Jarmolowicz, Yael Prawer, et al.

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions..

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, Meredith Wilson, Chirag Patel, Christopher P Barnett, Jason Pinner, Sarah A Sandaradura, Michael F Buckley, Emma I Krzesinski, Michelle G de Silva, Gemma R Brett, Kirsten Boggs, David Mowat, Edwin P Kirk, Lesley C Ades, Lauren S Akesson, David J Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, et al.

Journal article  |  2020  |  JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Importance: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathwa..

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

Thuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, Celine Huber, Chelsea Kois, Genevieve Baujat, Christopher T Gordon, Valerie Mayne, Louise Galmiche, Valerie Serre, Nicolas Goudin, Mohammed Zarhrate, Christine Bole-Feysot, Cecile Masson, Patrick Nitschke, Frans W Verheijen, Lynn Pais, Anna Pelet, Simon Sadedin, John A Pugh, et al.

Journal article  |  2020  |  AMERICAN JOURNAL OF HUMAN GENETICS

The evolutionarily conserved hedgehog (Hh) pathway is essential for organogenesis and plays critical roles in postnatal tissue mai..

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

Guy Helman, Alison Compton, Daniella Hock, Marzena Walkiewicz, Gemma Brett, Lynn Pais, Tiong Tan, Ricardo De Paoli-Iseppi, Michael Clark, John Christodoulou, Susan White, David Thorburn, David Stroud, Zornitza Stark, Cas Simons

Journal article  |  2020

The diagnosis of mitochondrial disorders remains a challenging and often unmet need. We sought to investigate a sibling pair with ..