Melanie Bahlo

Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression

Roberto Bonelli, Brendan RE Ansell, Luca Lotta, Thomas Scerri, Traci E Clemons, Irene Leung, Tunde Peto, Alan C Bird, Ferenc B Sallo, Claudia Langenberg, Melanie Bahlo

Journal article  |  2021  |  Genome Medicine

BACKGROUND: Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid w..

Infanticide vs. inherited cardiac arrhythmias.

Malene Brohus, Todor Arsov, David A Wallace, Helene Halkjær Jensen, Mette Nyegaard, Lia Crotti, Marcin Adamski, Yafei Zhang, Matt A Field, Vicki Athanasopoulos, Isabelle Baró, Bárbara B Ribeiro de Oliveira-Mendes, Richard Redon, Flavien Charpentier, Hariharan Raju, Deborah DiSilvestre, Jinhong Wei, Ruiwu Wang, Haloom Rafehi, Antony Kaspi, et al.

Journal article  |  2021  |  EP Europace

AIMS: In 2003, an Australian woman was convicted by a jury of smothering and killing her four children over a 10-year period. Each..

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

Roberto Bonelli, Victoria E Jackson, Aravind Prasad, Jacob E Munro, Samaneh Farashi, Tjebo FC Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, Catherine A Egan, Rando Allikmets, Brendan RE Ansell, Melanie Bahlo

Journal article  |  2021  |  Communications Biology

Macular Telangiectasia Type 2 (MacTel) is a rare degenerative retinal disease with complex genetic architecture. We performed a ge..

Contribution of rare genetic variants to drug response in absence epilepsy

Kenneth A Myers, Mark F Bennett, Bronwyn E Grinton, Gabriel Dabscheck, Eunice K Chan, Luis E Bello-Espinosa, Lynette G Sadleir, Sabrina D'Alfonso, Amy L Schneider, John A Damiano, Michael S Hildebrand, Melanie Bahlo, Samuel F Berkovic, Jeffrey Buchhalter, Ingrid E Scheffer

Journal article  |  2021  |  Epilepsy Research

OBJECTIVE: We investigated the possible significance of rare genetic variants to response to valproic acid (VPA) and ethosuximide ..

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn, Dennis Velakoulis, Michael Fahey, Patrick Kwan, Richard Leventer, Haloom Rafehi, Belinda Chong, Zornitza Stark, Sebastian Lunke, Dean G Phelan, Melanie O'Keefe, Kirby Siemering, Kirsty West, Adrienne Sexton, Anna Jarmolowicz, Jessica A Taylor, Joshua Schultz, et al.

Journal article  |  2021  |  Journal of the Neurological Sciences

Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for ..

A cross-platform approach identifies genetic regulators of human metabolism and health

Luca A Lotta, Maik Pietzner, Isobel D Stewart, Laura BL Wittemans, Chen Li, Roberto Bonelli, Johannes Raffler, Emma K Biggs, Clare Oliver-Williams, Victoria PW Auyeung, Jian'an Luan, Eleanor Wheeler, Ellie Paige, Praveen Surendran, Gregory A Michelotti, Robert A Scott, Stephen Burgess, Verena Zuber, Eleanor Sanderson, Albert Koulman, et al.

Journal article  |  2021  |  Nature Genetics

In cross-platform analyses of 174 metabolites, we identify 499 associations (P < 4.9 × 10-10) characterized by pleiotropy, allelic..

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.

Zimeng Ye, Zac Chatterton, Jahnvi Pflueger, John A Damiano, Lara McQuillan, Anthony Simon Harvey, Stephen Malone, Hongdo Do, Wirginia Maixner, Amy Schneider, Bernadette Nolan, Martin Wood, Wei Shern Lee, Greta Gillies, Kate Pope, Michael Wilson, Paul J Lockhart, Alexander Dobrovic, Ingrid E Scheffer, Melanie Bahlo, et al.

Journal article  |  2021  |  Brain Communications

Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and ma..

Comparative genomics revealed adaptive admixture in Cryptosporidium hominis in Africa

Swapnil Tichkule, Aaron R Jex, Cock van Oosterhout, Anna Rosa Sannella, Ralf Krumkamp, Cassandra Aldrich, Oumou Maiga-Ascofare, Denise Dekker, Maike Lamshoeft, Joyce Mbwana, Njari Rakotozandrindrainy, Steffen Borrmann, Thorsten Thye, Kathrin Schuldt, Doris Winter, Peter G Kremsner, Kwabena Oppong, Prince Manouana, Mirabeau Mbong, Samwel Gesase, et al.

Journal article  |  2021  |  Microbial Genomics

Cryptosporidiosis is a major cause of diarrhoeal illness among African children, and is associated with childhood mortality, malnu..

Real time, field-deployable whole genome sequencing of malaria parasites using nanopore technology

Zahra Razook, Somya Mehra, Brittany Gilchrist, Digjaya Utama, Dulcie Lautu-Gumal, Abebe Fola, Didier Menard, James Kazura, Moses Laman, Ivo Mueller, Leanne Robinson, Melanie Bahlo, Alyssa Barry

Journal article  |  2020

ABSTRACT Malaria parasite genomes have been generated predominantly using short read sequencing technology which can be slow, requ..

Eukaryote-ConservedMethylarginine Is Absent in Diplomonads and Functionally Compensated in Giardia

Samantha J Emery-Corbin, Joshua J Hamey, Brendan RE Ansell, Balu Balan, Swapnil Tichkule, Andreas J Stroehlein, Crystal Cooper, Bernie McInerney, Soroor Hediyeh-Zadeh, Daniel Vuong, Andrew Crombie, Ernest Lacey, Melissa J Davis, Marc R Wilkins, Melanie Bahlo, Staffan G Svard, Robin B Gasser, Aaron R Jex

Journal article  |  2020  |  Molecular Biology and Evolution

Methylation is a common posttranslational modification of arginine and lysine in eukaryotic proteins. Methylproteomes are best cha..