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Journal of Medical Genetics|April 13, 2016
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasiaAideen M McInerney-Leo, Carine Le Goff, Paul J Leo, et al.
European Journal of Human Genetics : EJHG|November 30, 2006
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasiaAndreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, et al.
BMC Musculoskeletal Disorders|March 29, 2014
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type VSyndia Lazarus, Aideen M McInerney-Leo, Fiona A McKenzie, et al.
Bonekey Reports|February 7, 2014
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndromeAideen M McInerney-Leo, Mhairi S Marshall, Brooke Gardiner, et al.
American Journal of Human Genetics|August 6, 2013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60Aideen M McInerney-Leo, Miriam Schmidts, Claudio R Cortés, et al.
American Journal of Human Genetics|June 30, 2015
The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseTudor Groza, Sebastian Köhler, Dawid Moldenhauer, et al.
American Journal of Human Genetics|March 6, 2012
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFBAndreas Zankl, Emma L Duncan, Paul J Leo, et al.
American Journal of Human Genetics|April 23, 2019
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and HypogonadismHilde Van Esch, Rita Colnaghi, Kathleen Freson, et al.
Bone|July 16, 2023
Identification of potential non-invasive biomarkers in diastrophic dysplasiaChiara Paganini, Ricki S Carroll, Chiara Gramegna Tota, et al.
Human Mutation|September 17, 2011
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, et al.
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