Browsing by Author Leo, Paul

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Showing results 1 to 15 of 15
Issue DateTitleAuthor(s)Citation
2015COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?Zankl, Andreas; Bradbury, Linda; Brown, Matthew; Clark, Graeme; Duncan, Emma; Gardiner, Brooke; Harris, J E; Leo, Paul; McInerney-Leo, Aideen; Childrens Hospital Westmead: Paediatrics & Child HealthCOL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?, Clinical Genetics, vol.88, 1, 2015,pp 49-55
2015Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defectsZankl, Andreas; Brown, Matthew; Duncan, Emma; Dunwoodie, Sally; Gardiner, Brooke; Harris, Jessica; Leo, Paul; Marshall, Mhairi; McInerney-Leo, Aideen; O'Reilly, Victoria; Shi, Hongjun; Sparrow, D. B.; Childrens Hospital Westmead: Paediatrics & Child HealthCompound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects, Human Molecular Genetics, vol.24, 5, 2015,pp 1234-1242
2017Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosisPamphlett, Roger; Al-Chalabi, Ammar; Benyamin, Beben; et al, Various; Garton, Fleur; Gratten, Jacob; He, Ji; Leo, Paul; Liu, Zhijun; Mangelsdorf, Marie; Zhao, Qiongyi; School of Medical Sciences: PathologyCross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis, Nature Communications, vol.8, 611, 2017,pp 1-7
2017Defining the genetic susceptibility to cervical neoplasia - A genome-wide association studySitas, Freddy; et al, Various; Hallmans, Goran; Hemminki, Kari; Leo, Paul; Madeleine, Margaret; Newell, Felicity; Pettersson-Kymmer, Ulrika; Schwartz, S; Tiews, Sven; Wang, Sophia; School of Public Health: Public HealthDefining the genetic susceptibility to cervical neoplasia - A genome-wide association study, PLoS Genetics, vol.13, 8, 2017,pp 1-20
2015Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitisMcCluskey, Peter; Bradbury, Linda; Claushuis, Theodora A M; Cortes, Adrian; Cremin, Katie; et al, Various; Evans, David M; Harris, Jessica; Leo, Paul; Martin, Tammy M; Mukhopadhyay, Pamela; Robinson, Philip C; Central Clinical School: Clinical Ophthal & Eye HealthGenetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis, Arthritis & Rheumatology, vol.67, 1, 2015,pp 140-151
2017Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrumZankl, Andreas; Anderson, L; Brown, Matthew; Duncan, Emma; Leo, Paul; Marshall, M; McInerney-Leo, Aideen M; Wheeler, L; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthHomozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum, American Journal of Medical Genetics, Part A, vol.173A, 6, 2017,pp 1698-1704
2016Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association StudiesSambrook, Philip; Brown, Matthew; Choi, Hyung Jin; et al, Various; He, Hao; Leo, Paul; Liu, Ning; Niu, Tianhua; Pei, Yu-Fang; Shen, Hui; Yu, Xun; Zhang, Lei; Northern Clinical School: MedicineIdentification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies, Journal of Bone and Mineral Research, vol.31, 2, 2016,pp 358-368
2014Multistage genome-wide association meta-analyses identified two new loci for bone mineral densitySambrook, Philip; Choi, Hyung Jin; Estrada, Karol; et al, Various; Leo, Paul; Li, Jian; Lin, Yong; Liu, Yaozhong; Pei, Yufang; Shen, Hui; Zhang, Lei; Zhang, Yinping; Northern Clinical School: MedicineMultistage genome-wide association meta-analyses identified two new loci for bone mineral density, Human Molecular Genetics, vol.23, 7, 2014,pp 1923-1933
2016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionZankl, Andreas; Anderson, Lisa K.; Brown, Matthew; Cortes, Claudio; Duncan, Emma; Harris, Jessica; Keith, Patrick A.; Leo, Paul; McInerney-Leo, Aideen; Ramsing, Mette; Rondon Galeano, Maria C.; Vogel, I; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Scientific Reports, vol.6, N/A, 2016,pp 1-10
2016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionZankl, Andreas; Anderson, Lisa K.; Brown, Matthew; Cortes, Claudio; Duncan, Emma; Harris, Jessica; Keith, Patrick A.; Leo, Paul; McInerney-Leo, Aideen; Ramsing, Mette; Rondon Galeano, Maria C.; Vogel, I; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Scientific Reports, vol.6, N/A, 2016,pp 1-10
2016Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasiaZankl, Andreas; Bole-Feysot, Christine; et al, Various; Harris, Jessica; Keith, Patricia; Kenna, Tony; Le Goff, Carine; Leo, Paul; McInerney-Leo, Aideen M; Nitschke, Patrick; Steer, Ruth; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia, Journal of Medical Genetics, vol.53, 7, 2016,pp 457-464
2015Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese originNicholson, Garth; Blair, Ian P.; Duncan, Emma; Fifita, Jennifer A.; Leo, Paul; Marshall, M S; McCann, Emily P.; Rowe, Dominic B.; Williams, Kelly; Zhang, Katharine Y; Concord Clinical School: ANZAC Research InstituteNovel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin, Neurobiology of Aging, vol.36, 12, 2015,pp 3334.e1-3334.e5
2014Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomasBenn, Diana; Clifton-Bligh, Roderick; Robinson, Bruce; Brown, Matthew; Duncan, Emma; Gardiner, Brooke; Leo, Paul; Marshall, Mhairi; McFarlane, Janelle; McInerney-Leo, Aideen; Northern Clinical School: Kolling Institute; Northern Clinical School: Medicine; Northern Clinical School: MedicineWhole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas, Clinical Endocrinology, vol.80, 1, 2014,pp 25-33
2015Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophiesZankl, Andreas; et al, Various; Gardiner, B; Harris, J E; Kinning, E; Leo, Paul; Leong, H Y; Marshall, M S; McInerney-Leo, A M; McKenzie, Fiona; Ong, W P; Vodopiutz, Julia; Childrens Hospital Westmead: Paediatrics & Child HealthWhole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies, Clinical Genetics, vol.88, 6, 2015,pp 550-557
2015Whole-genome sequencing identifies EN1 as a determinant of bone density and fractureLewis, Josh; Dahia, Chitra L; Estrada, Karol; et al, Various; Forgetta, Vincenzo; Hsu, Yi-Hsiang; Leo, Paul; Park-Min, Kyung Hyun; Rosello-Diez, Alberto; Tobias, John H; Zheng, Hou-Feng; School of Public Health: Public HealthWhole-genome sequencing identifies EN1 as a determinant of bone density and fracture, Nature, vol.526, 7571, 2015,pp 112-117