Yu-Chi Liu

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones, et al.

Journal article  |  2019  |  EPILEPSIA OPEN

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephal..

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Mark J Cowley, Yu-Chi Liu, Karen L Oliver, Gemma Carvill, Candace T Myers, Velimir Gayevskiy, Martin Delatycki, Danique RM Vlaskamp, Ying Zhu, Heather Mefford, Michael F Buckley, Melanie Bahlo, Ingrid E Scheffer, Marcel E Dinger, Tony Roscioli

Journal article  |  2019  |  HUMAN MUTATION

Rapid advances in genomic technologies have facilitated the identification pathogenic variants causing human disease. We report si..

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Fadi F Hamdan, Candace T Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T Cho, Jill A Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M Regan, et al.

Journal article  |  2017  |  AMERICAN JOURNAL OF HUMAN GENETICS

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intel..

Evaluation of non-coding variation in GLUT1 deficiency

Yu-Chi Liu, Jia Wei Audrey Lee, Susannah T Bellows, John A Damiano, Saul A Mullen, Samuel F Berkovic, Melanie Bahlo, Ingrid E Scheffer, Michael S Hildebrand

Journal article  |  2016  |  DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

AIM: Loss-of-function mutations in SLC2A1, encoding glucose transporter-1 (GLUT-1), lead to dysfunction of glucose transport acros..

The Drosophila melanogaster Phospholipid Flippase dATP8B Is Required for Odorant Receptor Function

Yu-Chi Liu, Michelle W Pearce, Takahiro Honda, Travis K Johnson, Sandhya Charlu, Kavita R Sharma, Mays Imad, Richard E Burke, Konrad E Zinsmaier, Anandasankar Ray, Anupama Dahanukar, Marien de Bruyne, Coral G Warr

Journal article  |  2014  |  PLOS GENETICS

The olfactory systems of insects are fundamental to all aspects of their behaviour, and insect olfactory receptor neurons (ORNs) e..

Alignment of optical maps

A Valouev, L Li, YC Liu, DC Schwartz, Y Yang, Y Zhang, MS Waterman

Journal article  |  2006  |  JOURNAL OF COMPUTATIONAL BIOLOGY

We introduce a new scoring method for calculation of alignments of optical maps. Missing cuts, false cuts, and sizing errors prese..

Alignment of Optical Maps

Anton Valouev, Lei Li, Yu-Chi Liu, David C Schwartz, Yi Yang, Yu Zhang, Michael S Waterman

Book Chapter  |  2005  |  Lecture Notes in Computer Science