Concepedia

Author

Sondhya Ghedia

Royal North Shore Hospital

Also Known As

S Ghedia, S. Ghedia, Sondhya Ghedia

12

Publications

748

Citations

10

H-Index

34

Concepts

All Affiliations

Royal North Shore HospitalUniversity of TorontoChildren's Hospital at WestmeadMurdoch Children's Research InstituteVictorian Clinical Genetics Services
SG

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

2

2

78

2

Public Health

1

1

36

3

Epidemiology

1

1

36

4

Family Medicine

1

1

36

5

Genetic Medicine

1

1

36

Sondhya Ghedia

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8

Publications

596

Citations

8

H-Index

YearCitations

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

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti,

JCI Insight

2016

182

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

Sara Zagaglia, C. Selch, Jelena Radić Nišević,

Neurology

2018

140

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

Joshua S. Clayton, Fathimath Faiz, Padma Sivadorai,

Journal of Medical Genetics

2020

74

Periventricular Heterotopia in Common Microdeletion Syndromes

Margriet van Kogelenberg, Sondhya Ghedia, George McGillivray,

Molecular Syndromology

2010

64

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,

Journal of Biological Chemistry

2014

43

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Karin Weiss, Kristen Wigby, Madeleine Fannemel,

European Journal of Human Genetics

2017

42

Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?

Stephanie White, Tamara Mossfield, Jane Fleming,

European Journal of Human Genetics

2023

36

RNA variant assessment using transactivation and transdifferentiation

Emmylou C Nicolas-Martinez, O.F. Robinson, Christian Pflueger,

The American Journal of Human Genetics

2024

15

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