- Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SOM, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. 2015. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Hum Mutat. In press.
- Buske OJ, Schiettecatte F, Hutton B, Dumitriu S, Misyura A, Huang L, Hartley T, Girdea M, Sobreira N, Mungall C, Brudno M. 2015. The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. Hum Mutat. In press.
- Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE, Dyment DA, McMillan H. 2015. Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2. Neuromuscul Disord. Neuromuscul Disord. pii: S0960-8966(15)00690-2. In press.
- Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TMT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, Reeuwijk JV, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, Dam TJPV, Huang L, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Hazzaa SA, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Boycott KM, McKibbin M, Inglehearn CF, UK 10K Consortium, University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. 2015. An siRNA-based
functional genomics screen for the identification of novel regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol. 17(8):1074-1087.
- Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M, FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM, Dyment DA. 2015. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet. In press.
- Dyment DA, Gibson WT, Huang L, Bassyouni H, Hegele RA, Innes AM. 2014. Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. Eur J Med Genet. 57(9):524-526.
- Myers KA, Chardon JW, Huang L, Boycott KM. Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies. 2014. Am J Med Genet A. 164A(12):3209-3212.
- Nikkel S, Huang L, Lachman R, Beaulieu CL, Schwartzentruber J, FORGE Canada Consortium, Majewski J, Geraghty MT, Boycott KM. 2014. Whole-exome sequencing expands the phenotype of Hunter syndrome. Clin Genet. 86(2):172-176.
- Beaulieu CL#, Huang L#, Innes AM, Akimenko M-A, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Bulman DE, Parboosingh JS, Boycott KM. 2013. Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis. 8(1):62. (#co-first
- Lynch DC, Dyment DA, Huang L, Nikkel S, Lacombe D, Campeau P, Lee B, Bacino C, Michaud J, Bernier FP, FORGE Canada Consortium, Parboosingh JS, Innes AM. 2013. Identification of novel mutations confirms PDE4D as the major gene causing acrodysostosis. Hum Mutat. 34(1):97-102.
During my research training, I participated in the discovery of numerous disease genes and the discovery of expanded clinical phenotypes, many of which have been published in high impact papers. I have a strong interest in the translation of next-generation sequencing (NGS) to clinical practice. I played integral role in the clinical implementation of a Cardiomyopathy panel on the
Illumina MiSeq system at the CHEO Molecular Diagnostics Laboratory (CHAMO Innovation Fund listed below) and have been coordinating a national Clinical Exome Sequencing project at three Page 5 participating clinical laboratories across Canada with the ultimate goal of implementing Whole Exome Sequencing in clinical diagnostic settings.
During my PhD, I worked as a Teaching Assistant for a second-year undergraduate genetics course. My responsibilities in this role included preparing and giving introductory lectures to students in weekly laboratory sessions, providing question and answer sessions
before exams, and grading assignments and exams. Trained as a Molecular Geneticist during the CCMG training, I have developed expertise and interest in teaching Quantitative Genetics including Bayesian Risk Calculation and Population Genetics. With extensive experience in Next-generation sequencing technologies and Whole Exome Sequencing interpretation, I am also interested in teaching Genomic Medicine to medical students and Genetics/Pathology residents. I gave two Genetics Academic Half day lectures to the Genetics Residents and Fellows in CHEO on Quantitative Genetics, including Bayesian risk calculation, population genetics, and measurements of test performance. I am also an active participant in Genetics Education Rounds at CHEO, where I have presented annually throughout my training on topics related to novel gene discovery and technological advance in the field of human genetics.
Once starting my position as a Molecular Geneticist in the Molecular Genetics Laboratory at BC Children’s Hospital & BC Women’s Hospital I will immediately be involved in teaching of residents in Medical Genetics, Pediatric Endocrinology, and Pediatric Immunology & Allergy, as well as CCMG Fellows, all of which routinely and yearly rotate through the Molecular Genetics laboratory. In addition, I will also be involved in teaching of Genetic Counseling Master’s students who participate in a yearly two-week rotation of molecular genetics PBL sessions. I will pursue other opportunities once arriving, and would welcome any suggestions of areas where the committee may be aware are in need of support.