Amanda C. Smith

发表

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

K. Boycott, D. Bulman, C. Beaulieu, 2014, Journal of Medical Genetics.

Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting.

M. Ghani, J. McGowan-Jordan, R. Roberts, 2019, The Journal of molecular diagnostics : JMD.

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository

Matthew S. Lebo, C. Marshall, H. Feilotter, 2021, Journal of Medical Genetics.

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

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

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

K. Boycott, J. Woulfe, D. Bulman, 2015, Neurobiology of Aging.

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

R. Rodenburg, K. Boycott, D. Bulman, 2018, Journal of inherited metabolic disease.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

Development of a comprehensive approach to adult hereditary cancer testing in Ontario

H. Feilotter, A. Pollett, A. Eisen, 2022, Journal of Medical Genetics.

Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

K. Boycott, D. Bulman, C. Beaulieu, 2014, Epilepsia.

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co‐occurrence of multiple events

R. Hennekam, K. Boycott, D. Bulman, 2016, American journal of medical genetics. Part A.

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

C. Marshall, M. Tarnopolsky, R. Hegele, 2013, Human mutation.

Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories.

M. Ghani, J. McGowan-Jordan, H. Daoud, 2019, The Journal of molecular diagnostics : JMD.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

A. V. Vulto-van Silfhout, L. Vissers, J. Schuurs-Hoeijmakers, 2012, American journal of human genetics.

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations

K. Boycott, D. Bulman, C. Beaulieu, 2015, Journal of child neurology.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

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

Mutations in PIK3R1 cause SHORT syndrome.

Sahar Mansour, Kym M Boycott, Dennis E Bulman, 2013, American journal of human genetics.

Mutations in PIK 3 R 1 Cause SHORT Syndrome

W. Reardon, S. Mansour, K. Boycott, 2013 .

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

R. Hevner, K. Boycott, D. Bulman, 2014, Journal of neuropathology and experimental neurology.

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC)

Amanda C. Smith, G. Graham, C. Gilpin, 2018, Familial Cancer.

Nablus syndrome: Easy to diagnose yet difficult to solve

J. Allanson, K. Boycott, A. Lin, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

K. Boycott, D. Bulman, E. Bareke, 2014, European Journal of Human Genetics.

Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines

Caitlin Chisholm, Hussein Daoud, Mahdi Ghani, 2017, Genetics in Medicine.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

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

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

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

B. Fernandez, K. Boycott, T. Hartley, 2017, Clinical genetics.

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys

K. Boycott, D. Bulman, K. Kernohan, 2018, Clinical genetics.

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC)

Amanda C. Smith, G. Graham, Priya T. Bhola, 2018, Familial Cancer.

ALU transposition induces familial hypertrophic cardiomyopathy

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

Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

K. Boycott, D. Bulman, C. Beaulieu, 2014, Epilepsia.