Concepedia

Oana Caluseriu

OC

36

Publications

3.3K

Citations

25

H-Index

2001

Active since

Affiliations

University of Alberta(Current)

Hospital for Sick Children

University of Toronto

University of Calgary

Assistance Publique – Hôpitaux de Paris

Oana Caluseriu is an author at University of Alberta specializing in medicine, genetics, and developmental biology.

ORCID

Top concepts

Publications per year

2001–2024

36

Publications

36

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

, , +11

Clinical features of 78 adults with 22q11 deletion syndrome

Anne S. Bassett, Eva W.C. Chow, Janice Husted et al. · American Journal of Medical Genetics Part A · 2005 · 488 citations · Full text

, , +17

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

François P. Bernier, Oana Caluseriu, Sarah Ng et al. · The American Journal of Human Genetics · 2012 · 223 citations · Full text

, , +10

NSD1 mutations generate a genome-wide DNA methylation signature

Sanaa Choufani, Cheryl Cytrynbaum, Brian Hon‐Yin Chung et al. · Nature Communications · 2015 · 206 citations · Full text

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky et al. · The American Journal of Human Genetics · 2017 · 202 citations · Full text

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