Amanda Barone Pritchard

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin et al. · Brain · 2019 · 52 citations · Full text

Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome

Amanda Barone Pritchard, Stanley M. Kanai, Bryan L. Krock et al. · American Journal of Medical Genetics Part A · 2020 · 13 citations · Full text

Further description of two patients with biallelic variants in <scp><i>NADSYN1</i></scp> in association with cardiac and vertebral anomalies

Hannah Kortbawi, Elizabeth G. Ames, Amanda Barone Pritchard et al. · American Journal of Medical Genetics Part A · 2022 · 13 citations

Heart Failure, Further Description, Genetics +17

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

Amanda Barone Pritchard, Alanna Strong · Orphanet Journal of Rare Diseases · 2020 · 10 citations · Full text

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Dong Li, Alanna Strong, Cuiping Hou et al. · Molecular Cytogenetics · 2022 · 10 citations · Full text