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Author Details

Lijia Huang
Children's Hospital of Eastern Ontario (CHEO)
2008
40
19
PMIDPaper TitleJournal TitlePublished Year
37657992Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.Pathology2024
36353900Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.Clin Genet2023
37453830Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.Clin Ther2023
36331261The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.Am J Med Genet A2023
35599849Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.HGG Adv2022
35351177Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.Orphanet J Rare Dis2022
35609929Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.CMAJ Open2022
32627054Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.Hum Genet2021
31568709ALU transposition induces familial hypertrophic cardiomyopathy.Mol Genet Genomic Med2020
31840929Renpenning syndrome in a female.Am J Med Genet A2020
32117035Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A.Front Neurol2020
32265824Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C&gt;G, p.L796V Mutation in <i>SCN4A</i>.Front Neurol2020
30476144Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.Hum Mol Genet2019
30388400Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.Am J Hum Genet2018
27102954Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.Clin Genet2017
28334793Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Hum Mol Genet2017
28377321Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.Eur J Med Genet2017
28185376Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.Hum Mutat2017
27633801A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.Am J Med Genet A2017
26754023Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.Am J Med Genet A2016
26507355Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.Hum Mutat2016
27602171Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.Clin Epigenetics2016
25589244LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.Clin Genet2015
26298607Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.Neuromuscul Disord2015
26295439The Matchmaker Exchange: a platform for rare disease gene discovery.Hum Mutat2015
26255989The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.Hum Mutat2015
26167768An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.Nat Cell Biol2015
23844659Whole-exome sequencing expands the phenotype of Hunter syndrome.Clin Genet2014
25251419Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.Am J Med Genet A2014
25297577[Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis].Zhonghua Yi Xue Yi Chuan Xue Za Zhi2014
24980513Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.Eur J Med Genet2014
23033274Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.Hum Mutat2013
23621916Intellectual disability associated with a homozygous missense mutation in THOC6.Orphanet J Rare Dis2013
22305528Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.Am J Hum Genet2012
22986007Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.Orphanet J Rare Dis2012
22919265Yeast two-hybrid analysis of a human trabecular meshwork cDNA library identified EFEMP2 as a novel PITX2 interacting protein.Mol Vis2012
21282189A complex regulatory network of transcription factors critical for ocular development and disease.Hum Mol Genet2011
22152675TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.Am J Hum Genet2011
19801652Human PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells.J Biol Chem2009
18676636Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells.Invest Ophthalmol Vis Sci2008
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Collaborators

Children's Hospital of Eastern Ontario
Co-authored papers 24
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 9
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Co-authored papers 8
Co-authored papers 4
University of Chicago
Co-authored papers 3
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Co-authored papers 3
Co-authored papers 3
The Hospital for Sick Children
Co-authored papers 2
The Hospital for Sick Children
Co-authored papers 2
University of Washington
Co-authored papers 2
Johns Hopkins University
Co-authored papers 2
International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences
Co-authored papers 2
University of Ottawa, Canada Children's Hospital of Eastern Ontario
Co-authored papers 2
FS Consulting LLC
Co-authored papers 2
University of British Columbia
Co-authored papers 2
The Hospital for Sick Children
Co-authored papers 2
DATA Team and Techna Institute, University Health Network
Co-authored papers 2
Wellcome Trust Sanger Institute
Co-authored papers 2
DATA Team and Techna Institute, University Health Network
Co-authored papers 2
University of Toronto
Co-authored papers 2
McMaster University Medical Center
Co-authored papers 2
University of Leeds Leeds Institute of Medical Research at St James's
Co-authored papers 2
University of Ottawa
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Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
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McGill University
Co-authored papers 1