Melanie Bahlo

Clonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development

Luyi Tian, Sara Tomei, Jaring Schreuder, Tom S Weber, Daniela Amann-Zalcenstein, Dawn S Lin, Jessica Tran, Cindy Audiger, Mathew Chu, Andrew Jarratt, Tracy Willson, Adrienne Hilton, Ee Shan Pang, Timothy Patton, Madison Kelly, Shian Su, Quentin Gouil, Peter Diakumis, Melanie Bahlo, Toby Sargeant, et al.

Journal article  |  2021  |  IMMUNITY

Despite advances in single-cell multi-omics, a single stem or progenitor cell can only be tested once. We developed clonal multi-o..

Genome-wide genetic screen identifies host ubiquitination as important for Legionella pneumophila Dot/Icm effector translocation

Sze Ying Ong, Ralf Schuelein, Rachelia R Wibawa, Daniel W Thomas, Yanny Handoko, Saskia Freytag, Melanie Bahlo, Kaylene J Simpson, Elizabeth L Hartland

Journal article  |  2021  |  CELLULAR MICROBIOLOGY

The Dot/Icm system of Legionella pneumophila is essential for virulence and delivers a large repertoire of effectors into infected..

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

Chloe A Stutterd, Alexa Kidd, Chris Florkowski, Edward Janus, Miriam Fanjul, Anthony Raizis, Teddy Y Wu, John Archer, Richard J Leventer, David J Amor, Vesna Lukic, Melanie Bahlo, Paul Gow, Paul J Lockhart, Marjo S van Der Knaap, Martin B Delatycki

Journal article  |  2021  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen de..

Loss-of-function variants in K(v)11.1 cardiac channels as a biomarker for SUDEP

Ming S Soh, Richard D Bagnall, Mark F Bennett, Lauren E Bleakley, Erlina S Mohamed Syazwan, A Marie Phillips, Mathew DF Chiam, Chaseley E McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E Scheffer, Samuel F Berkovic, Christopher A Reid

Journal article  |  2021  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

OBJECTIVE: To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls ..

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

Sarah E Heron, Brigid M Regan, Rebekah V Harris, Alison E Gardner, Matthew J Coleman, Mark F Bennett, Bronwyn E Grinton, Katherine L Helbig, Michael R Sperling, Sheryl Haut, Eric B Geller, Peter Widdess-Walsh, James T Pelekanos, Melanie Bahlo, Slave Petrovski, Erin L Heinzen, Michael S Hildebrand, Mark A Corbett, Ingrid E Scheffer, Jozef Gecz, et al.

Journal article  |  2021  |  NEUROLOGY

OBJECTIVE: To identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we ..

Author Correction: 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, undefined MacTel Consortium, Catherine A Egan, Rando Allikmets, Brendan RE Ansell, Melanie Bahlo

Journal article  |  2021  |  Commun Biol

A Correction to this paper has been published: https://doi.org/10.1038/s42003-021-01972-y

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Carolina Courage, Karen L Oliver, Eon Joo Park, Jillian M Cameron, Kariona A Grabinska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betul Baykan, Christian Brandt, Carlo di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M Dibbens, Barbara Castellotti, Patrizia Riguzzi, Angelo Labate, Alessandro Filla, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous rare diseases. Over 70% of PM..

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..

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..

Infanticide vs. inherited cardiac arrhythmias

Malene Brohus, Todor Arsov, David A Wallace, Helene Halkjaer Jensen, Mette Nyegaard, Lia Crotti, Marcin Adamski, Yafei Zhang, Matt A Field, Vicki Athanasopoulos, Isabelle Baro, Barbara 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  |  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..