Helen L Storr

21PUBLICATIONS
105CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NanophotonicsClinical nutritionMedical genetics (excl. cancer genetics)Haematological tumours
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Publications (21)

|Sep 23, 2026
Diagnosis and management of Silver-Russell syndrome: second international consensus statement.

|Jan 16, 2026
International guideline on genetic testing of children with short stature.

Andrew Dauber, Alexander A L Jorge, Ola Nilsson

|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

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Frequent Collaborators

8 joint publications

Avinaash V Maharaj

6 joint publications

Emily Cottrell

6 joint publications

Justin H Davies

6 joint publications

Martin O Savage