G. Mettler

发表

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.

Thecorrelation ofageofonset withCTG trinucleotide repeat amplification inmyotonic dystrophy

A. Hunter, C. Tsilfidis, G. Mettler, 1992 .

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).

J. W. Thomas, M. Boguski, L. Morrison, 1999, Human molecular 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.

Peer Observed Interaction and Structured Evaluation (POISE): A Canadian Experience with Peer Supervision for Genetic Counselors

G. Mettler, C. Honeywell, C. Goldsmith, 2011, Journal of Genetic Counseling.

Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes.

D. Rosenblatt, C. Scriver, J. Mcgill, 1990, American journal of medical genetics.

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.

L. Surh, A. Hunter, R. Korneluk, 1992, Journal of medical genetics.

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

R. Cantor, K. Taylor, Xiuqing Guo, 2004, Journal of Medical Genetics.

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

R. Scott, C. Ogilvy, I. Awad, 1998, Human molecular genetics.

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.

I. MacDonald, A. Hunter, R. Korneluk, 1993, American journal of medical genetics.

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

R. Korneluk, C. Tsilfidis, J. Barceló, 1992, Nature Genetics.

Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.

J. Allanson, A. Hunter, G. Mettler, 1992, American journal of medical genetics.

A comparison of the caffeine halothane muscle contracture test with the molecular genetic diagnosis of malignant hyperthermia.

R. Korneluk, D. Maclennan, R. Worton, 1991, Anesthesiology.

Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13 polymorphisms

L. Surh, A. MacKenzie, R. Korneluk, 2004, Human Genetics.

Recurrence risk for sibs of children with "sporadic" achondroplasia.

G. Mettler, F. Fraser, 2000, American journal of medical 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.

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.

K. Dahan, K. Leppig, J. Zhou, 1995, Kidney international.

A711 A COMPARISON OP THE CAFFEINE HALOTHANE CONTRACTURE TEST WITH MOLECULAR GENETICS DIAGNOSIS OF MALIGNANT HYPERTHERMIA (MH)

R. Korneluk, D. Maclennan, R. Worton, 1990 .

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.