Brooke B. Gardiner
Woolloongabba, QLD 4102, Australia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Journal: Human molecular genetics
Published: October 26, 2014
Brief Report: Intestinal Dysbiosis in Ankylosing Spondylitis.
Journal: Arthritis & rheumatology (Hoboken, N.J.)
Published: August 28, 2014
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Journal: Nature
Published: April 28, 2014
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
Journal: BoneKEy reports
Published: August 07, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Journal: American journal of human genetics
Published: July 29, 2013
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.
Journal: Clinical endocrinology
Published: July 24, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Journal: American journal of human genetics
Published: May 13, 2013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
Journal: American journal of human genetics
Published: March 16, 2013
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Journal: Human molecular genetics
Published: January 22, 2013
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.
Journal: Nature
Published: January 09, 2012
Deep-transcriptome and ribonome sequencing redefines the molecular networks of pluripotency and the extracellular space in human embryonic stem cells.
Journal: Genome research
Published: November 02, 2011
Showing 1-11 of 11
Last Updated: 09/26/2026