Robert Gardner

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamande, Ravi Savarirayan

Journal article  |  2011  |  Orphanet Journal of Rare Diseases

Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome

D Coman, RJM Gardner, MD Pertile, P Kannu

Journal article  |  2010  |  Fetal Diagnosis and Therapy

A new dominantly inherited pure cerebellar ataxia, SCA 30

E Storey, M Bahlo, M Fahey, O Sisson, CJ Lueck, RJM Gardner

Journal article  |  2009  |  Journal of Neurology, Neurosurgery and Psychiatry

Deletions that reveal recessive genes

David J Coman, RJ McKinlay Gardner

Journal article  |  2007  |  European Journal of Human Genetics

MURCS and thenar hypoplasia

RJ McKinlay Gardner, Mark P Umstad, Lyndon G Hale

Journal article  |  2007  |  Clinical Dysmorphology

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, RJ McKinlay Gardner, Susan M Forrest, Elizabeth MC Fisher, et al.

Journal article  |  2007  |  PLoS Genetics

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

G McGillivray, R Savarirayan, TC Cox, C Stojkoski, R McNeil, A Bankier, JF Bateman, T Roscioli, RJM Gardner, SR Lamande

Journal article  |  2005  |  Journal of Medical Genetics

Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent

A Vinton, MC Fahey, TJ O'Brien, J Shaw, E Storey, RJM Gardner, PJ Mitchell, D Du Sart, JO King

Journal article  |  2005  |  American Journal of Medical Genetics

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

B Schule, M Albalwi, E Northrop, DI Francis, M Rowell, HR Slater, RJM Gardner, U Francke

Journal article  |  2005  |  BMC MEDICAL GENETICS

Severe fetal brain dysgenesis with focal calcification

RJM Gardner, CW Chow, I Simpson, AM Fink, SE Meagher, SM White

Journal article  |  2005  |  Prenatal Diagnosis