S. C. Lim

发表

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

J. Christodoulou, B. Kamien, D. Phelan, 2020, Journal of genetics and genomics = Yi chuan xue bao.

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

R. Giegé, M. Bahlo, J. Christodoulou, 2010, American journal of human genetics.

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

H. Freeze, G. Matthijs, A. Ribes, 2021, American Journal of Human Genetics.

Anti-cancer analogues ME-143 and ME-344 exert toxicity by directly inhibiting mitochondrial NADH: ubiquinone oxidoreductase (Complex I).

Kirstyn T Carey, M. McKenzie, S. C. Lim, 2015, American journal of cancer research.

Next-Generation Sequencing Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted

D. Jaffe, V. Mootha, S. Dimauro, 2012 .

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

K. Nitta, Y. Kishita, A. Ohtake, 2022, Molecular genetics and metabolism reports.

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Katherine R. Smith, M. Bahlo, Luke C. Gandolfo, 2014, American journal of human genetics.

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

D. MacArthur, N. Brown, A. O’Donnell-Luria, 2021, Journal of Medical Genetics.

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome

Y. Kishita, A. Ohtake, K. Murayama, 2019, neurogenetics.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

D. Jaffe, V. Mootha, S. Dimauro, 2012, Science Translational Medicine.

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome

Y. Okazaki, Y. Kishita, A. Ohtake, 2019, neurogenetics.

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

V. Mootha, Michael Springer, J. Christodoulou, 2013, Human molecular genetics.

Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

A. Ohtake, K. Murayama, D. Stroud, 2018, Scientific Reports.

Loss of mitochondrial DNA‐encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly

I. Trounce, N. V. Van Bergen, M. McKenzie, 2016, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Capture of Somatic mtDNA Point Mutations with Severe Effects on Oxidative Phosphorylation in Synaptosome Cybrid Clones from Human Brain

R. Cotton, I. Trounce, M. McKenzie, 2014, Human mutation.

Simultaneous Measurement of Mitochondrial Calcium and Mitochondrial Membrane Potential in Live Cells by Fluorescent Microscopy.

M. Duchen, M. McKenzie, S. C. Lim, 2017, Journal of visualized experiments : JoVE.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

N. Brown, S. Ellard, M. Broly, 2022, American journal of human genetics.

Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

A. Ohtake, K. Murayama, D. Stroud, 2018, Scientific Reports.

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

V. Mootha, Michael Springer, J. Christodoulou, 2013, Human molecular genetics.