Concepedia

Sondhya Ghedia

SG

8

Publications

596

Citations

8

H-Index

2010

Active since

Affiliations

Royal North Shore Hospital(Current)

University of Toronto

Children's Hospital at Westmead

Murdoch Children's Research Institute

Victorian Clinical Genetics Services

Sondhya Ghedia is an author at Royal North Shore Hospital specializing in medicine, developmental biology, and craniofacial anomalies.

Top concepts

Publications per year

2010–2024

8

Publications

8

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 182 citations · Full text

Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations

Sara Zagaglia, C. Selch, Jelena Radić Nišević et al. · Neurology · 2018 · 140 citations · Full text

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Joshua S. Clayton, Fathimath Faiz, Padma Sivadorai et al. · Journal of Medical Genetics · 2020 · 74 citations · Full text

Periventricular Heterotopia in Common Microdeletion Syndromes

Margriet van Kogelenberg, Sondhya Ghedia, George McGillivray et al. · Molecular Syndromology · 2010 · 64 citations · Full text

Structural Basis for the Disruption of the Cerebral Cavernous Malformations 2 (CCM2) Interaction with Krev Interaction Trapped 1 (KRIT1) by Disease-associated Mutations

Oriana S. Fisher, Weizhi Liu, Rong Zhang et al. · Journal of Biological Chemistry · 2014 · 43 citations · Full text

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