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Plos Genetics|April 2, 2011
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasiaEvgeny A Glazov, Andreas Zankl, Marina Donskoi, et al.American Journal of Medical Genetics. Part A|August 19, 2004
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1Andreas Zankl, Bernhard Zabel, Katja Hilbert, et al.American Journal of Medical Genetics. Part A|April 20, 2017
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrumAideen M McInerney-Leo, Lawrie Wheeler, Mhairi S Marshall, et al.Children (Basel, Switzerland)|July 27, 2024
Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in AustraliaLouise Tofts, Penny Ireland, Tracy Tate, et al.The Journal of Clinical Endocrinology and Metabolism|January 24, 2020
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical NeoplasiaHui Peng, Zandra A Jenkins, Ruby White, et al.Developmental Medicine and Child Neurology|August 16, 2011
Functional performance in young Australian children with achondroplasiaPenelope Jane Ireland, James McGill, Andreas Zankl, et al.Plos Genetics|October 26, 2005
Evolutionary comparison provides evidence for pathogenicity of RMRP mutationsLuisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, et al.Developmental Medicine and Child Neurology|March 14, 2012
Development in children with achondroplasia: a prospective clinical cohort studyPenelope J Ireland, Samantha Donaghey, James McGill, et al.Journal of Paediatrics and Child Health|January 23, 2013
The effect of height, weight and head circumference on gross motor development in achondroplasiaPenelope Jane Ireland, Robert S Ware, Samantha Donaghey, et al.Journal of Paediatrics and Child Health|August 12, 2014
Phenotyping: targeting genotype's rich cousin for diagnosisGareth Baynam, Mark Walters, Peter Claes, et al.Pageof 8