Laura M. Mcdonell

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 12 publications

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

Journal: Annals of clinical and translational neurology
Published: October 23, 2024

Comparing Pathology Report Quality Indicators in 2 Distinct Whipple Resection Specimen Protocols.

Comparing Pathology Report Quality Indicators in 2 Distinct Whipple Resection Specimen Protocols.

Journal: Pancreas
Published: June 17, 2020

Insulinoma presenting as hypoglycemia during lactose tolerance testing: a case report.

Insulinoma presenting as hypoglycemia during lactose tolerance testing: a case report.

Journal: Journal of medical case reports
Published: May 19, 2020

Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings.

Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: December 01, 2018

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.

Journal: American journal of medical genetics. Part A
Published: April 03, 2018

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

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

Journal: Clinical genetics
Published: March 02, 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Journal: Cell
Published: April 17, 2017

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Journal: American journal of human genetics
Published: November 04, 2015

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Journal: Human molecular genetics
Published: June 23, 2015

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.

Journal: BMC neurology
Published: November 11, 2013

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

Journal: Nature genetics
Published: January 12, 2013

The abundance of processed pseudogenes derived from glycolytic genes is correlated with their expression level.

The abundance of processed pseudogenes derived from glycolytic genes is correlated with their expression level.

Journal: Genome
Published: February 08, 2012
Showing 1-12 of 12

Last Updated: 09/26/2026