L. McDonell

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

K. Boycott, B. Chung, H. Daoud, 2018, American journal of medical genetics. Part A.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

B. Chung, R. Hennekam, L. Biesecker, 2016, American journal of human genetics.

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

K. Boycott, K. Kernohan, S. Sawyer, 2015, Human molecular genetics.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

B. Frey, Leo J. Lee, Soma Das, 2013, Nature Genetics.

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

J. McGowan-Jordan, D. Dyment, R. Kapur, 2018, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

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

G. Drouin, L. McDonell, Laura M McDonell, 2012, Genome.

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

J. Rosenfeld, P. Stankiewicz, A. Breman, 2018, Cell.

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.

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

Weei‐Yuarn Huang, M. Molinari, R. DeCoste, 2020, Pancreas.

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

C. Schwartz, K. Boycott, D. Bulman, 2011, European Journal of Human Genetics.

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

K. Boycott, D. Bulman, C. Beaulieu, 2014, BMC Neurology.

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

V. Munro, Valerie Keough, Ferhan S. Siddiqi, 2020, Journal of Medical Case Reports.