Concepedia

Thea Worthylake

TW

Statistics

Publications

2

Citations

806

H-Index

2

Active since

2012

Affiliations

Ottawa Hospital(Current)

McGill University

McGill University and Génome Québec Innovation Centre

University of Ottawa

Children's Hospital of Eastern Ontario

Thea Worthylake is an author at Ottawa Hospital specializing in genetics, molecular genetics, and genomics.

Top concepts

Publications per year

2012–2012

2

Publications

2

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

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Hugh J. McMillan, Thea Worthylake, Jeremy Schwartzentruber et al. · Orphanet Journal of Rare Diseases · 2012 · 69 citations · Full text

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