Concepedia
Statistics
Publications
13
Citations
280
H-Index
12
Active since
2019
Affiliations
Medical College of Wisconsin(Current)
Mayo Clinic in Florida
Mayo Clinic
Mayo Clinic in Arizona
Inserm
Nikita R. Dsouza is an author at Medical College of Wisconsin specializing in genetics, life sciences, and molecular genetics.
Publications per year
2019–2024
<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 · 55 citations · Full text
Life Sciences, Genetics, Molecular Genetics +11
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 · 45 citations · Full text
Life Sciences, Biochemistry, Neuroscience +11
<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 · 30 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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 · 22 citations · Full text
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Maolei Gong, Jiayi Li, Zailong Qin et al. · The American Journal of Human Genetics · 2024 · 17 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
1–5 of 13