Highlighted publications & preprints
|
Quantifying constraint in the human mitochondrial genome
|
|
Mitochondrial DNA variation across 56,434 individuals in gnomAD
|
|
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
|
|
Neuromuscular disorders: finding the missing genetic diagnoses.
|
Selected other articles
- Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms.
Hong YS*, Pasca S*, Shi W, Puiu D, Lake NJ, Lek M, Ru M, Grove M, Prizment A, Joshu CE, Platz EA, Guallar E, Arking DE, Gondek LP. *Co-first authors. medRxiv, 2024.
- Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
Hong YS*, Battle SL*, Shi W, Puiu D, Pillalamarri V, Xie J, Pankratz N, Lake NJ, Lek M, Rotter JI, Rich S, Kooperberg C, Reiner AP, Auer P, Heard-Costa N, Liu C, Lai M, Murabito JM, Levy D, Grove ML, Alonso A, Gibbs R, Dugan-Perez S, Gondek LP, Guallar E, Arking DE. *Co-first authors. Nature Communications, 2023.
- Deep Mutational Scanning in Rare Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
Ma K, Ng KK, Huang S, Lake NJ, Xu J, Ge L, Woodman KG, Koczwara KE, Lek A, Lek M. bioRxiv, 2023. - Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera S*, Hock DH*, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z; Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG. *Co-first authors. Human Molecular Genetics, 2023.
- Estimating the prevalence of LAMA2 congenital muscular dystrophy using population genetic databases.
Lake NJ, Phua J, Liu W, Moors T, Axon S, Lek M. Journal of Neuromuscular Diseases, 2023. - Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta K, Ohtake A, Murayama A, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Vermeulen J, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Wilson MJ, Bhattacharya K, Freckmann M, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Med by Cell, 2021.
- Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.
Liu W, Pajusalu S*, Lake NJ*, Zhou G, Ioannidis N, Mittal P, Johnson NE, Weihl CC, Williams BA, Albrecht DE, Rufibach LE, Lek M. *Co-second authors. Genetics in Medicine, 2019. - Homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Lake NJ, Formosa LE, Stroud DA, Ryan MT, Calvo SE, Mootha VK, Morar B, Procopis PG, Christodoulou J, Compton AG, Thorburn DR. Human Mutation, 2019. - Severe leukoencephalopathy with clinical recovery caused by recessive BOLA3 mutations.
Stutterd CA, Lake NJ, Peters H, Lockhart P, Taft RJ, van der Knaap MS, Vanderver A, Thorburn DR, Simons C, Leventer RJ. Journal of Inherited Metabolic Disease Reports, 2019. - Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome.
Lake NJ*, Webb BD*, Stroud DA*, Richman TR*, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Bodaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. *Co-first author. American Journal of Human Genetics, 2017. - ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A. Brain, 2017. - TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis.
Lake NJ, Taylor RL, Trahair H, Harikrishnan KN, Curran JE, Almeida M, Kulkarni H, Mukhamedova N, Hoang A, Low H, Murphy AJ, Johnson MP, Dyer TD, Mahaney MC, Göring HHH, Moses EK, Sviridov D, Blangero J, Jowett JBM, Bozaoglu K. European Heart Journal, 2017.
- Leigh syndrome: One disease, more than 75 monogenic causes.
Lake NJ, Compton AG, Rahman S, Thorburn DR. Annals of Neurology, 2016. - Leigh syndrome: Neuropathology and Pathogenesis.
Lake NJ#*, Bird MJ*, Isohanni P, Paetau A. #Corresponding author. *Co-first author. Journal of Neuropathology and Experimental Neurology, 2015. - Approaches for Dissection of the Genetic Basis of Complex Disease Development in Humans.
Lake NJ, Bozaoglu K, Khan AW, Jowett JBM. Genetic Diversity, 2012.
Full list of publications available at Google Scholar
Selected Press
- SFARI workshop explores mitochondrial dysfunction in autism, SFARI Reports, 2022.
- Unlocking the mitochondrial genome for autism research, Spectrum News, 2022.
- Emerging Scientists, Mito Foundation, 2021.
- American Australian Association Qantas Scholar 2019, American Australian Association Alumni, 2019.
- All in the genes, Bendigo Magazine, 2018.
- New test for mitochondrial disease set to improve ability to diagnose, Herald Sun, 2017.
- Hope for Ivy as illness test cuts through the guesswork, The Australian Newspaper, 2017.
