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Victorian Clinical Genetics Services | Researchclopedia

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Victorian Clinical Genetics Services

Flemingtonfacility

2,222

Works

198,098

Citations

174

h-index

Top Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Mitochondrial Function and Pathology

Top Researchers

Nicholas G. Martin QIMR Berghofer Medical Research Institute

2,799 works233,084 citationsh-index: 221

Recent Research

A Survey of Current Australasian Practices in the Use of Residual Bloodspots for the Addition of a New Disorder to the Screening Panel

Lawrence Greed,James Pitt,et al.

20260 citations

Prenatal Screening and Diagnostics

Genetics and Neurodevelopmental Disorders

Metabolism and Genetic Disorders

BRCA gene mutations in cancer

RNA modifications and cancer

Genetic Neurodegenerative Diseases

Connective tissue disorders research

Congenital heart defects research

Cervical Cancer and HPV Research

George Patton Royal Children's Hospital

778 works191,830 citationsh-index: 143

Philip B. Mitchell University of Sydney

1,017 works135,669 citationsh-index: 129

Ingrid E. Scheffer Royal Children's Hospital

1,043 works88,612 citationsh-index: 141

John L. Hopper University of Melbourne

1,955 works80,911 citationsh-index: 136

258 works78,584 citationsh-index: 82

Phase 2, open-label INSPIRE trial to assess the tolerability and effectiveness of transdermal cannabidiol gel in children and adolescents with 22q11.2 deletion syndrome (ZYN2-CL-031)

H. S. Heussler,Jonathan Cohen,et al.

20260 citations

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS

Nina B. Gold,Britt Johnson,et al.

20260 citations

Associations Between the Alberta Infant Motor Scale and Motor and Gait Outcomes at 4–5 Years in Children Born Very Preterm: A Prospective Cohort Study

Reem A. Albesher,Jennifer L. McGinley,et al.

20260 citations

An Australian standard of care for Niemann–Pick disease type C

Michel Tchan,Nicholas Smith,et al.

20260 citations

Doxycycline inhibits both apicoplast and mitochondrial translation in apicomplexan parasites

Michaela S. Bulloch,Emily M. Crisafulli,et al.

20260 citations