Nikita R. Dsouza

<i>SASH3</i>variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Ottavia M. Delmonte, Jenna Bergerson, Tomoki Kawai et al. · Blood · 2021 · 52 citations · Full text

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Àngels García‐Cazorla, Edgard Verdura, Natalia Juliá‐Palacios et al. · Acta Neuropathologica · 2020 · 44 citations · Full text

Developmental Biology, Mitochondrial Function, Brain Development +10

<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Nikita R. Dsouza et al. · Journal of Medical Genetics · 2021 · 28 citations · Full text

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza et al. · Genome Medicine · 2022 · 20 citations · Full text

A case of Coffin–Siris syndrome with severe congenital heart disease and a novel <i>SMARCA4</i> variant

Nikita R. Dsouza, Michael T. Zimmermann, Gabrielle C. Geddes · Molecular Case Studies · 2019 · 16 citations · Full text