Courtney Vaccaro

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

E. Zackai, H. Hakonarson, D. Slater, 2021, American journal of medical genetics. Part A.

Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis

J. Glessner, H. Hakonarson, B. Lie, 2022, Arthritis & rheumatology.

TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome

H. Hakonarson, P. Giampietro, Erum A. Hartung, 2022, American journal of medical genetics. Part A.

Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2023, Journal of Hepatology.

Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes

E. Zackai, H. Hakonarson, Helio F. Pedro, 2021, American journal of medical genetics. Part A.

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

S. Scherer, R. Pfundt, H. Hakonarson, 2023, American journal of medical genetics. Part A.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.