Tiong Yang Tan

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 and Genomic Medicine

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

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

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  |  The 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 ..

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Laura Castilla-Vallmanya, Kaja K Selmer, Clemantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sanchez, Sandra Yang, Margot RF Reijnders, Antonie J van Essen, Myriam Oufadem, Magnus D Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton-Smith, Jeffrey W Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K Chung, et al.

Journal article  |  2020  |  Genetics in Medicine

Parental experiences and genetic counsellor roles in Pierre Robin sequence

Rhiannon Sandow, Nicky M Kilpatrick, Tiong Yang Tan, Supriya Raj, Laura Elenor Forrest

Journal article  |  2020  |  Journal of Community Genetics

Pierre Robin sequence (PRS) is a craniofacial abnormality comprising micrognathia, glossoptosis and airway obstruction, which can ..

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

Tiong Yang Tan, Jiri Sedmik, Mark P Fitzgerald, Rivka Sukenik Halevy, Liam P Keegan, Ingo Helbig, Lina Basel-Salmon, Lior Cohen, Rachel Straussberg, Wendy K Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B Howell, Susan M White, John Christodoulou, Mary A O'Connell

Journal article  |  2020  |  The American Journal of Human Genetics

Bi-allelic LoF NRROS Variants Impairing Active TGF-beta 1 Delivery Cause a Severe Infantile-Onset Neuro degenerative Condition with Intracranial Calcification

Xiaomin Dong, Natalie B Tan, Katherine B Howell, Sabina Barresi, Jeremy L Freeman, Davide Vecchio, Maria Piccione, Francesca Clementina Radio, Daniel Calame, Shan Zong, Stefanie Eggers, Ingrid E Scheffer, Tiong Y Tan, Nicole J Van Bergen, Marco Tartaglia, John Christodoulou, Susan M White

Journal article  |  2020  |  The American Journal of Human Genetics

Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat-containing protein that uniquely associates with la..