Avinaash V Maharaj

12PUBLICATIONS
83CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NanophotonicsClinical nutritionMedical genetics (excl. cancer genetics)Genetic immunology
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Publications (12)

|Dec 23, 2025
Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.

Uttara Kurup, David B N Lim, Avinaash V Maharaj

|Nov 01, 2025
Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling.

Sumana Chatterjee, Miho Ishida, Débora R Bertola

|Sep 28, 2024
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.

Avinaash V Maharaj, Miho Ishida, Anna Rybak

|Jun 18, 2024
Approach to the Patient With Suspected Silver-Russell Syndrome.

Uttara Kurup, David B N Lim, Helena Palau

|Mar 21, 2023
Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.

Afiya Andrews, Emily Cottrell, Avinaash Maharaj

|Mar 21, 2022
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.

Avinaash Maharaj, Tülay Güran, Federica Buonocore

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Frequent Collaborators

8 joint publications

Helen L Storr

7 joint publications

Louise Metherell

4 joint publications

Emily Cottrell

3 joint publications

Federica Buonocore