Alison Yeung

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome

Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood, Michael Stephen Hildebrand, Smitha Kumble, Colina McKeown, David Mowat, Gemma Poke, Sulekha Rajagopalan, Brigid M Regan, Ingrid Eileen Scheffer, Zornitza Stark, Chloe Alice Stutterd, Tiong Yang Tan, Ella Jane Wilkins, Alison Yeung, Matthew Frank Hunter

Journal article  |  2022  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Verheij syndrome (VRJS) is a rare craniofacial spliceosomopathy presenting with craniofacial dysmorphism, multiple congenital anom..

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Ilias Goranitis, You Wu, Sebastian Lunke, Susan M White, Tiong Y Tan, Alison Yeung, Matthew F Hunter, Melissa Martyn, Clara Gaff, Zornitza Stark

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: To evaluate whether the additional cost of providing increasingly faster genomic results in pediatric critical care is ou..

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

Daniel Natera-de Benito, Julie A Jurgens, Alison Yeung, Irina T Zaharieva, Adnan Manzur, Stephanie P DiTroia, Silvio Alessandro Di Gioia, Lynn Pais, Veronica Pini, Brenda J Barry, Wai-Man Chan, James E Elder, John Christodoulou, Eleanor Hay, Eleina M England, Pinki Munot, David G Hunter, Lucy Feng, Danielle Ledoux, Anne O'Donnell-Luria, et al.

Journal article  |  2022  |  HUMAN MUTATION

A proper interaction between muscle-derived collagen XXV and its motor neuron-derived receptors protein tyrosine phosphatases σ an..

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genet..

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program

Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva, Lilian Downie, Chloe A Stutterd, Justine Elliott, Alison G Compton, Alysia Lovgren, Ralph Oertel, David Francis, Katrina M Bell, Simon Sadedin, Sze Chern Lim, et al.

Journal article  |  2021  |  JOURNAL OF MEDICAL GENETICS

BACKGROUND: Clinical exome sequencing typically achieves diagnostic yields of 30%-57.5% in individuals with monogenic rare disease..

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

Zornitza Stark, Rebecca E Foulger, Eleanor Williams, Bryony A Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone US Leong, Arina Puzriakova, Louise C Daugherty, Sarah Leigh, Christopher Boustred, Olivia Niblock, Antonio Rueda-Martin, Oleg Gerasimenko, Kevin Savage, William Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide va..

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian HY Chung, Marcus CY Chan, Jasmine LF Fung, Edwin Cook, Stephen Guter, Felix Boschann, Andre Heinen, Jens Schallner, Cyril Mignot, Boris Keren, Sandra Whalen, Catherine Sarret, Dana Mittag, Laurie Demmer, Rachel Stapleton, Ken Saida, et al.

Journal article  |  2021  |  JOURNAL OF MEDICAL GENETICS

PURPOSE: Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ ..

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Katta M Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine Veenstra-Knol, Grazia MS Mancini, Gerarda Cappuccio, Nicola Brunetti-Pierri, Fanny Kortuem, Maja Hempel, Jonas Denecke, Anna Lehman, Tjitske Kleefstra, Kyra E Stuurman, Martina Wilke, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila fun..

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..

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  |  OBSTETRICAL & GYNECOLOGICAL SURVEY

Multiple studies have shown that genomic testing has a high diagnostic yield and an impact on clinical management for patients wit..