Éliane Beauregard‐Lacroix

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

Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix et al. · The American Journal of Human Genetics · 2019 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Éliane Beauregard‐Lacroix, Smrithi Salian, Hyunyun Kim et al. · European Journal of Human Genetics · 2019 · 33 citations · Full text

Life Sciences, Molecular Medicine, Human Genetics +6

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Éliane Beauregard‐Lacroix, G. Pacheco-Cuellar, Norbert Fonya Ajeawung et al. · Genetics in Medicine · 2020 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

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

Chunmei Li, Éliane Beauregard‐Lacroix, Christine Kondratev et al. · The American Journal of Human Genetics · 2020 · 25 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +14

Retrospective Analysis of Congenital Scoliosis

Éliane Beauregard‐Lacroix, Jessica Tardif, Maria Vittoria Camurri et al. · Spine · 2016 · 19 citations

Life Sciences, Genetics, Pediatrics +17