Éliane Beauregard-Lacroix

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Genetic Testing in a Cohort of Complex Esophageal Atresia

E. Lemyre, Philippe M. Campeau, Z. Kibar, 2017, Molecular Syndromology.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

J. Rosenfeld, B. Graham, Y. Kwon, 2020, American journal of human genetics.

Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders.

B. Maranda, C. Auray-Blais, P. Bauer, 2022, Bioanalysis.

Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses

E. Lemyre, S. Parent, Philippe M. Campeau, 2017, Spine.

A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Philippe M. Campeau, J. Michaud, G. Mitchell, 2019, European Journal of Human Genetics.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in Medicine.

Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome

S. Parent, Philippe M. Campeau, M. Delrue, 2019, American journal of medical genetics. Part A.