Publications by authors named "Sze Chern Lim"

Claim this Profile
S
Severe spinal cord hypoplasia due to a novel compound heterozygous deletion.
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Sze Chern Lim

Mol Genet Metab Rep· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Sze Chern Lim

J Med Genet· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J M Dingemans, Dick Schijven, Sze Chern Lim

Genet Med· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Martin Broly, Bogdan V Polevoda, Kamel M Awayda, Ning Tong, Jenna Lentini, Sze Chern Lim

Am J Hum Genet· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Sze Chern Lim

Am J Hum Genet· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
MicroRNA-101-3p Modulates Mitochondrial Metabolism via the Regulation of Complex II Assembly.
Mark Ziemann, Sze Chern Lim, Yilin Kang, Sona Samuel, Isabel Lopez Sanchez

J Mol Biol· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Matthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, Bobby G Ng, Wasantha K Ranatunga, Sze Chern Lim

Am J Hum Genet· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).
Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, Emanuela Leonardi, Tiong Y Tan, Sze Chern Lim

J Genet Genomics· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, Sze Chern Lim, Masaru Shimura

Neurogenetics· March 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function.
Sze Chern Lim, Makiko Tajika, Masaru Shimura, Kirstyn T Carey, David A Stroud

Sci Rep· January 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly.
Sze Chern Lim, Jana Hroudová, Nicole J Van Bergen, M Isabel G Lopez Sanchez, Ian A Trounce

FASEB J· June 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Anti-cancer analogues ME-143 and ME-344 exert toxicity by directly inhibiting mitochondrial NADH: ubiquinone oxidoreductase (Complex I).
Sze Chern Lim, Kirstyn T Carey, Matthew McKenzie

Am J Cancer Res· May 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain.
Matthew McKenzie, Maria Chiotis, Jana Hroudová, Maria I G Lopez Sanchez, Sze Chern Lim

Hum Mutat· December 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker

Am J Hum Genet· February 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Sze Chern Lim, Martin Friemel, Justine E Marum, Elena J Tucker, Damien L Bruno

Hum Mol Genet· November 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Sarah E Calvo, Alison G Compton, Steven G Hershman, Sze Chern Lim, Daniel S Lieber

Sci Transl Med· January 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Lisa G Riley, Sandra Cooper, Peter Hickey, Joëlle Rudinger-Thirion, Matthew McKenzie, Sze Chern Lim

Am J Hum Genet· July 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis