Lijia Huang

发表

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Orion J. Buske, Danielle R Azzariti, G. J. Swaminathan, 2015, Human mutation.

Validation of bcbio-nextgen Pipeline Based on NextSeq500 Exome Sequencing

Ryan Potter, Erinija Pranckeviciene, Olga Jarinova, 2019, 2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI).

Interplay 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

Lijia Huang, M. Ghani, L. Racacho, 2020, Human Genetics.

Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis

Lijia Huang, D. Lacombe, F. Bernier, 2013, Human mutation.

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

G. Paré, Lijia Huang, K. Boycott, 2016, Clinical Epigenetics.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Phillip A. Richmond, W. Wasserman, C. Boerkoel, 2022, HGG advances.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Colin A. Johnson, Teunis J. P. van Dam, J. Shendure, 2015, Nature Cell Biology.

A complex regulatory network of transcription factors critical for ocular development and disease.

M. Walter, Lijia Huang, W. Allison, 2011, Human molecular genetics.

Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario

C. Marshall, M. Somerville, Lijia Huang, 2022, CMAJ open.

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues

Lijia Huang, K. Boycott, J. Woulfe, 2015, Clinical genetics.

The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience

Lijia Huang, K. Boycott, T. Hartley, 2022, American journal of medical genetics. Part A.

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

J. Gécz, J. Mandel, O. Abdul-Rahman, 2018, Human molecular genetics.

Yeast two-hybrid analysis of a human trabecular meshwork cDNA library identified EFEMP2 as a novel PITX2 interacting protein

M. Walter, Lijia Huang, F. Mirzayans, 2012, Molecular vision.

Human PRKC Apoptosis WT1 Regulator Is a Novel PITX2-interacting Protein That Regulates PITX2 Transcriptional Activity in Ocular Cells*

M. Walter, Lijia Huang, P. Gage, 2009, The Journal of Biological Chemistry.

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, K. Boycott, D. Bulman, 2012, Orphanet Journal of Rare Diseases.

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

S. Cannon, Lijia Huang, G. Graham, 2020, Frontiers in Neurology.

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

Lijia Huang, K. Boycott, D. Bulman, 2017, Human molecular genetics.

A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene

M. Tarnopolsky, Lijia Huang, K. Boycott, 2017, American journal of medical genetics. Part A.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Arun K. Ramani, C. Marshall, M. Tarnopolsky, 2022, Clinical genetics.

Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells.

M. Walter, Lijia Huang, F. Berry, 2008, Investigative ophthalmology & visual science.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies

Lijia Huang, K. Boycott, K. Myers, 2014, American journal of medical genetics. Part A.

Renpenning syndrome in a female

Lijia Huang, A. Lehman, A. Elliott, 2019, American journal of medical genetics. Part A.

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

Laura A. Crinnion, D. Bonthron, Lijia Huang, 2018, bioRxiv.

Intellectual disability associated with a homozygous missense mutation in THOC6

C. Schwartz, E. Puffenberger, C. Ober, 2013, Orphanet Journal of Rare Diseases.

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

E. Sell, E. Shoubridge, E. Farrow, 2017, Human mutation.

The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles

Chris Mungall, Michael Brudno, Sergiu Dumitriu, 2015, Human mutation.

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2

Lijia Huang, K. Boycott, D. Bulman, 2015, Neuromuscular Disorders.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Colin A. Johnson, C. Ober, R. Hegele, 2011, American journal of human genetics.

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

Lijia Huang, K. Boycott, T. Hartley, 2016, American journal of medical genetics. Part A.

[Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis].

Lijia Huang, X. Fang, L. Zou, 2014, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.

C. Marshall, M. Somerville, Lijia Huang, 2023, Clinical therapeutics.

Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.

Lijia Huang, S. Sawyer, T. Kovesi, 2023, Pathology.

Interplay 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

Lijia Huang, L. Racacho, Erinija Pranckevičienė, 2020, Human Genetics.

ALU transposition induces familial hypertrophic cardiomyopathy

Lijia Huang, L. Benson, J. McGowan-Jordan, 2019, Molecular genetics & genomic medicine.

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

Carol J. Saunders, E. Sell, E. Shoubridge, 2017, Human mutation.