Gabrielle Mettler - Concepedia

Author

Gabrielle Mettler

Children's Hospital of Eastern Ontario

Also Known As

G Mettler, G. Mettler, Gabrielle Mettler, Gabrielle S. Mettler

Publications

1.7K

Citations

H-Index

Concepts

All Affiliations

Children's Hospital of Eastern Ontario University of Ottawa Marshfield Clinic Massachusetts General Hospital

About

Gabrielle Mettler is an author at Children's Hospital of Eastern Ontario specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	728
2	Public Health	2	2	232
3	Education	1	1	29
4	Behavioral Sciences	1	1	29
5	Biostatistics	1	1	18

Gabrielle Mettler

Publications

1.6K

Citations

H-Index

Page 1

	Year	Citations
Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1) Trilochan Sahoo, Eric W. Johnson, James W. Thomas, Human Molecular Genetics	1999	387
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy Catherine Tsilfidis, Alex MacKenzie, Gabrielle Mettler, Nature Genetics Rare DiseasesMendelian DisorderGenetic DisorderDegenerative DiseaseRepeat Length	1992	350
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27 Holly Duncan Craig, Murat Günel, Obed M. Cepeda, Human Molecular Genetics	1998	349
The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. Alasdair G. W. Hunter, Catherine Tsilfidis, Gabrielle Mettler, Journal of Medical Genetics GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationClinical Genetics	1992	214
Recurrence risk for sibs of children with ?sporadic? achondroplasia Gabrielle Mettler, F. Clarke Fraser American Journal of Medical Genetics	2000	57
Smooth muscle tumors associated with X-linked Alport syndrome: Carrier detection in females Karin Dahan, Laurence Heidet, Jing Zhou, Kidney International Smooth Muscle TumorsCarrier DetectionTumoral PathologySurgical PathologyX-linked Alport Syndrome	1995	42
Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines Caitlin Chisholm, Hussein Daoud, Mahdi Ghani, Genetics in Medicine Allelic VariantSequencingSequence VariantsMedicineGenetics	2017	42
Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counselling and genetic anticipation Alasdair G. W. Hunter, Pierre Jacob, Kim O'Hoy, American Journal of Medical Genetics	1993	39
Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin Jacques Simard, Éric Rhéaume, Jean-François Lebianc, Human Molecular Genetics	1994	37
A Comparison of the Caffeine Halothane Muscle Contracture Test with the Molecular Genetic Diagnosis of Malignant Hyperthermia Alex MacKenzie, Gregory C. Allen, Donelda Lahey, Anesthesiology GeneticsGenetic EpidemiologyHuman PolymorphismPathologyGenetic Linkage	1991	33

Page 1