Daniella H. Hock - Bio21 Molecular Science and Biotechnology Institute, University of Melbourne

基本信息

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Bio

Daniella is a research fellow at The University of Melbourne (Australia) in the development of quantitative proteomics approaches for clinical variant prioritisation in undiagnosed patients. She has previous industry experience in human genetic profiling and research experience in transcriptomics and gene editing of industrial yeasts for optimisation of bioethanol production.

Research Interests

Papers共 31 篇Author StatisticsCo-AuthorSimilar Experts

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ACAD9 Treatment with Bezafibrate and Nicotinamide Riboside Temporarily Stabilizes Cardiomyopathy and Lactic Acidosis

Johan L. K. Van Hove,Marisa W. Friederich,Daniella H. Hock,David A. Stroud,Nikeisha J. Caruana,Uwe Christians,Bjorn Schniedewind,Cole R. Michel,Richard Reisdorph, Edwin D. J. Lopez Gonzalez,Charles Brenner, Tonia E. Donovan, Jessica C. Lee,Kathryn C. Chatfield,Austin A. Larson,Peter R. Baker,Shawn E. McCandless, Meghan F. Moore Burk

MITOCHONDRION (2024)

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Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases

Daniella H Hock,Nikeisha J Caruana,Liana N Semcesen,Nicole J Lake,Luke E Formosa,Sumudu SC Amarasekera,Tegan Stait,Simone Tregoning, Leah E Frajman,David RL Robinson, Megan Ball,Boris Reljic,Bryony Ryder,Mathew J Wallis,Anand Vasudevan, Cara Beck,Heidi Peters,Joy Lee, MitoMDT Diagnostic Network for Genomics and Omics,Vasiliki Karlaftis,Chantal Attard,Paul Monagle, Amanda Samarasinghe, Rosie Brown,Weimin Bi,Monkol Lek,Robert McFarland,Robert W Taylor,Michael T Ryan,Zornitza Stark,John Christodoulou,Alison G Compton,David R Thorburn,David A Stroud

medrxiv（2024）

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An Integrated Multi-Omics Approach Allowed Ultra-Rapid Diagnosis of a Deep Intronic Pathogenic Variant in PDHX and Precision Treatment in a Neonate Critically Ill with Lactic Acidosis

Rodrigo T Starosta,Austin A Larson, Naomi J L Meeks, Sara Gracie, Marisa W Friederich, Sommer M Gaughan, Peter R Baker, Kelly G Knupp, Cole R Michel,Richard Reisdorph,Daniella H Hock, David A Stroud,Tim Wood, Johan L K Van Hove

Mitochondrion (2024): 101973-101973

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Multi-omics Identifies Large Mitoribosomal Subunit Instability Caused by Pathogenic MRPL39 Variants As a Cause of Pediatric Onset Mitochondrial Disease

Sumudu S. C. Amarasekera,Daniella H. Hock, Nicole J. Lake, Sarah E. Calvo,Sabine W. Gronborg,Emma Krzesinski, David J. Amor,Michael C. Fahey,Cas Simons,Flemming Wibrand,Vamsi K. Mootha,Monkol Lek,Sebastian Lunke,Zornitza Stark,Elsebet ostergaard,John Christodoulou,David R. Thorburn,David A. Stroud,Alison G. Compton

Human molecular genetics online/Human molecular geneticsno. 15 (2023): 2441-2454

Cited4Views0WOSBibtex

Mtfp1 Ablation Enhances Mitochondrial Respiration and Protects Against Hepatic Steatosis

Cecilia Patitucci,Juan Diego Hernandez-Camacho,Elodie Vimont,Sonny Yde,Thomas Cokelaer,Thibault Chaze,Quentin Giai Gianetto,Mariette Matondo,Anastasia Gazi,Ivan Nemazanyy,David A. Stroud,Daniella H. Hock,Erminia Donnarumma,Timothy Wai

Nature Communicationsno. 1 (2023): 1-21

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Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module

Thomas D. Jackson,Jordan J. Crameri,Linden Muellner-Wong,Ann E. Frazier,Catherine S. Palmer,Luke E. Formosa,Daniella H. Hock,Kenji M. Fujihara,Tegan Stait,Alice J. Sharpe,David R. Thorburn,Michael T. Ryan,David A. Stroud,Diana Stojanovski

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA（2022）

Cited14Views0WOSBibtex

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

Raman Kumar,Mark A. Corbett,Nicholas J. C. Smith,Daniella H. Hock,Zoya Kikhtyak,Liana N. Semcesen,Atsushi Morimoto,Sangmoon Lee,David A. Stroud,Joseph G. Gleeson,Eric A. Haan,Jozef Gecz

NPJ GENOMIC MEDICINE（2022）

Cited8Views0WOSNATUREBibtex

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