L. Penney

发表

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Donna M. Martin, B. Coe, J. Rosenfeld, 2012, The New England journal of medicine.

Successful Outcome in Pregnancy With Arterial Tortuosity Syndrome

Deborah L. Thompson, I. Rapchuk, Jo-Ann K. Brock, 2009, Obstetrics and gynecology.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

Marissa A. LeBlanc, D. Huntsman, Weei‐Yuarn Huang, 2014, PLoS genetics.

Universal access to genetic counseling for women with epithelial ovarian cancer in Nova Scotia: Evaluating a new collaborative care model

K. Kieser, L. Penney, E. Chamberlain, 2021, Journal of genetic counseling.

Hereditary ovarian cancer risk reduction: a retrospective evaluation of patient perspectives and service provision at a regional hereditary gynaecologic cancer clinic 2006–2016

K. Kieser, L. Penney, Jocelyn Stairs, 2022, BMC Women's Health.

Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma.

J. Testa, M. Cheung, L. Penney, 2013, Cancer genetics.

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.

A. Popejoy, A. Philp, F. Quintero-Rivera, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Left Ventricular Noncompaction and Coronary Artery Fistula in an Infant with Deletion 22q11.2

L. Penney, A. Warren, Heather Branton, 2011, Pediatric Cardiology.

Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review.

L. Penney, S. Ramsey, A. Hui, 2019, International journal of pediatric otorhinolaryngology.

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

Z. Cohen, B. Campbell, S. Gallinger, 2016, The American Journal of Gastroenterology.

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.

Vitamin B12 deficiency with intrinsic factor antibodies in an infant with poor growth and developmental delay.

M. Rashid, L. Penney, D. Chowdhury, 2014, Paediatrics & child health.

Vitamin B 12 deficiency with intrinsic factor antibodies in an infant with poor growth and developmental delay

M. Rashid, L. Penney, D. Chowdhury, 2014 .

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.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Severe laryngeal stenosis in newly born twins with 22q11.2 deletion syndrome: A case report.

L. Penney, W. El-Naggar, G. Corsten, 2016, Journal of neonatal-perinatal medicine.

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.

M. Woods, P. Parfrey, T. Young, 1999, American journal of human genetics.

The complex behavioral phenotype of 15q13.3 microdeletion syndrome

J. Rosenfeld, P. Stankiewicz, A. Beaudet, 2016, Genetics in Medicine.

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Julian R. E. Davis, H. Randeva, R. Eeles, 2020, The Journal of clinical endocrinology and metabolism.

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

S. Croul, M. Korbonits, D. Iacovazzo, 2018, Endocrinology, diabetes & metabolism case reports.

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

A. Battaglia, D. Earl, L. Bernardini, 2014, European Journal of Human Genetics.

A novel rearrangement of occludin causes brain calcification and renal dysfunction

Marissa A. LeBlanc, C. McMaster, J. Majewski, 2013, Human Genetics.

18th annual meeting: Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC)

B. Campbell, S. Gallinger, M. Kalady, 2014, Familial Cancer.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Bradley P. Coe, Donna M. Martin, J. Rosenfeld, 2012, The New England journal of medicine.

Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy

B. Clarke, H. Berman, M. Bernardini, 2023, American journal of human genetics.

I. Scheffer, P. Striano, F. Alkuraya, 2023, European Journal of Human Genetics.

Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.

K. Cole, D. Gass, A. Shlien, 2024, The Lancet. Oncology.

Nonfatal Isolated Cardiac Nonlysosomal Glycogenosis: A Rare Cause of Infantile Hypertrophic Cardiomyopathy

L. Penney, S. Dhillon, Catherine Deshaies, 2024, CJC pediatric and congenital heart disease.