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P. Leo · SciRah

Researcher profile · Semantic Scholar

P. Leo

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P. Leo — researcher profile on SciRah

h-index: 41
Works: 152
Citations: 7,000

Most-cited papers

Major Histocompatibility Complex Associations of Ankylosing Spondylitis are Complex and Involve Further Epistasis with ERAP1
A. Cortes, S. Pulit, P. Leo, J. J. Pointon +44 more
2015Nature Communications271 citations Open access
Semantic Scholar
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
Hong-Jun Shi, Annabelle Enriquez, Melissa Rapadas, Ella M. M. A. Martin +29 more
2017New England Journal of Medicine222 citations Open access
Semantic Scholar
Genetic Dissection of Acute Anterior Uveitis Reveals Similarities and Differences in Associations observed with Ankylosing Spondylitis
P. Robinson, T. Claushuis, A. Cortes, T. Martin +27 more
2015Arthritis & Rheumatology140 citations Open access
Semantic Scholar
A common variant mapping to CACNA1A is associated with susceptibility to Exfoliation syndrome
T. Aung, M. Ozaki, Takanori Mizoguchi, R. Allingham +157 more
2015Nature Genetics116 citations Open access
Semantic Scholar
Defining the genetic susceptibility to cervical neoplasia—A genome-wide association study
P. Leo, M. Madeleine, Sophia S. Wang, S. Schwartz +26 more
2017PLoS Genetics103 citations Open access
Semantic Scholar
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
B. Benyamin, Ji He, Qiongyi Zhao, J. Gratten +60 more
2017Nature Communications97 citations Open access
Semantic Scholar
ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients
P. Robinson, Mary-Ellen Costello, P. Leo, L. Bradbury +48 more
2015Annals of the Rheumatic Diseases95 citations Open access
Semantic Scholar
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data
J. Szot, H. Cuny, G. Blue, D. Humphreys +13 more
2018Circulation Genomic and Precision Medicine88 citations Open access
Semantic Scholar
Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?
Amanda J. Seabrook, J. Harris, Sofia B Velosa, Edward J. Kim +16 more
2020Journal of Clinical Endocrinology and Metabolism79 citations Open access
Semantic Scholar
Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis
Zhixiu Li, Xin Wu, P. Leo, E. De Guzman +37 more
2021Annals of the Rheumatic Diseases71 citations Open access
Semantic Scholar
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Emma M. Wade, P. Daniel, Z. Jenkins, A. McInerney-Leo +26 more
2016American Journal of Human Genetics65 citations Open access
Semantic Scholar
Genetic Variants in ERAP1 and ERAP2 Associated With Immune‐Mediated Diseases Influence Protein Expression and the Isoform Profile
A. Hanson, T. Cuddihy, K. Haynes, Dorothy Loo +7 more
2018Arthritis & Rheumatology59 citations Open access
Semantic Scholar
Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci
Xiu-Feng Huang, Zhixiu Li, E. De Guzman, P. Robinson +27 more
2020Investigative Ophthalmology and Visual Science58 citations Open access
Semantic Scholar
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma
Tiger Zhou, E. Souzeau, Shiwani Sharma, J. Landers +16 more
2017PLoS ONE58 citations Open access
Semantic Scholar
C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.
Ji He, Lu Tang, B. Benyamin, Sonia H. Shah +15 more
2015Neurobiology of Aging56 citations Open access
Semantic Scholar
Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis
Zhixiu Li, S. Akar, H. Yarkan, Sau-Kuen Lee +26 more
2019PLoS Genetics55 citations Open access
Semantic Scholar
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
A. McInerney-Leo, C. le Goff, P. Leo, T. Kenna +10 more
2016Journal of Medical Genetics55 citations
Semantic Scholar
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families
A. McInerney-Leo, J. Harris, M. Gattas, Elizabeth Peach +10 more
2016Human Mutation48 citations Open access
Semantic Scholar
Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes
C. Gregson, F. Newell, P. Leo, Graeme Clark +16 more
2018Bone47 citations Open access
Semantic Scholar
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
A. McInerney-Leo, D. Sparrow, J. Harris, B. Gardiner +8 more
2015Human Molecular Genetics45 citations Open access
Semantic Scholar
A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis
C. Gregson, Dylan J. M. Bergen, P. Leo, R. Sessions +17 more
2019Journal of Bone and Mineral Research42 citations Open access
Semantic Scholar
Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease
P. Robinson, P. Leo, Jennifer J. Pointon, J. Harris +8 more
2016npj Genomic Medicine41 citations Open access
Semantic Scholar
Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.
K. Williams, Emily P. McCann, Jennifer A. Fifita, Katharine Y. Zhang +6 more
2015Neurobiology of Aging41 citations Open access
Semantic Scholar
Isolation of Circulating Tumour Cells in Patients With Glioblastoma Using Spiral Microfluidic Technology – A Pilot Study
Juliana Müller Bark, A. Kulasinghe, G. Hartel, P. Leo +5 more
2021Frontiers in Oncology40 citations Open access
Semantic Scholar
Ex vivo culture of circulating tumour cells derived from non-small cell lung cancer
Joanna Kapeleris, A. Kulasinghe, M. Warkiani, C. Oleary +5 more
2020Translational Lung Cancer Research39 citations Open access
Semantic Scholar
Comprehensive genetic screening: The prevalence of maturity‐onset diabetes of the young gene variants in a population‐based childhood diabetes cohort
S. Johnson, J. Ellis, P. Leo, L. Anderson +12 more
2018Pediatric Diabetes39 citations Open access
Semantic Scholar
The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis
P. Robinson, P. Leo, Jennifer J. Pointon, Jade Harris +66 more
2015Genes and Immunity37 citations Open access
Semantic Scholar
Aurora A Is Critical for Survival in HPV-Transformed Cervical Cancer
B. Gabrielli, F. Bokhari, Max V. Ranall, Z. Oo +16 more
2015Molecular Cancer Therapeutics35 citations Open access
Semantic Scholar
Genetic diagnostic profiling in axial spondyloarthritis: a real world study.
G. Thomas, D. Willner, P. Robinson, A. Cortes +14 more
2017Clinical and Experimental Rheumatology34 citations
Semantic Scholar
HLA and KIR Associations of Cervical Neoplasia
Xiao Bao, A. Hanson, M. Madeleine, Sophia S. Wang +30 more
2018Journal of Infectious Diseases31 citations Open access
Semantic Scholar
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function
Claudio R. Cortés, A. McInerney-Leo, I. Vogel, Maria C. Rondón Galeano +9 more
2016Scientific Reports31 citations Open access
Semantic Scholar
Epigenetic and gene expression analysis of ankylosing spondylitis-associated loci implicate immune cells and the gut in the disease pathogenesis
Zhixiu Li, Katelin R Haynes, David Pennisi, L. Anderson +5 more
2017Genes and Immunity30 citations
Semantic Scholar
Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life
S. Johnson, H. Carter, P. Leo, S. Hollingworth +7 more
2018Diabetes Care29 citations Open access
Semantic Scholar
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent
S. Lucas, Tiger Zhou, Nicholas B. Blackburn, R. Mills +8 more
2018PLoS ONE28 citations Open access
Semantic Scholar
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese
J. Gratten, Qiongyi Zhao, B. Benyamin, F. Garton +34 more
2017Genome Medicine28 citations Open access
Semantic Scholar
A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young
Sarah M. Graff, S. Johnson, P. Leo, P. Dadi +9 more
2021JCI Insight27 citations Open access
Semantic Scholar
MHC associations of ankylosing spondylitis in East Asians are complex and involve non-HLA-B27 HLA contributions
Geng Wang, Tae-Hwan Kim, Zhixiu Li, A. Cortes +5 more
2020Arthritis Research & Therapy25 citations Open access
Semantic Scholar
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Ella M. M. A. Martin, Annabelle Enriquez, D. Sparrow, D. Humphreys +30 more
2020Human Molecular Genetics25 citations Open access
Semantic Scholar
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum
A. McInerney-Leo, L. Wheeler, M. Marshall, L. Anderson +5 more
2017American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
Genetic susceptibility to cervical neoplasia
Matthew A. Brown, P. Leo
2019Papillomavirus Research22 citations Open access
Semantic Scholar
Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia
M. Bassal, S. Samaraweera, Kelly Lim, Brooks A. Benard +23 more
2022Nature Communications21 citations Open access
Semantic Scholar
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia
K. Z. Maung, P. Leo, M. Bassal, D. A. Casolari +21 more
2018Blood Cancer Journal21 citations Open access
Semantic Scholar
Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies.
T. Niu, Ning Liu, Ming Zhao, Guie Xie +30 more
2015Human Molecular Genetics20 citations Open access
Semantic Scholar
Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population
Xiu-yu Shi, Geng Wang, Ting Li, Zhixiu Li +28 more
2020EBioMedicine18 citations Open access
Semantic Scholar
Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.
S. Lucas, Tiger Zhou, Nicholas B. Blackburn, R. Mills +9 more
2017Investigative Ophthalmology and Visual Science18 citations Open access
Semantic Scholar
COL1A1 C‐propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?
A. M. McInerney-Leo, E. Duncan, P. Leo, B. Gardiner +5 more
2015Clinical Genetics17 citations
Semantic Scholar
Whole‐exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism
S. Johnson, P. Leo, A. M. McInerney-Leo, L. Anderson +7 more
2018Pediatric Diabetes16 citations Open access
Semantic Scholar
Genome-wide association study in Guillain-Barré syndrome.
S. Blum, Ying Ji, David Pennisi, Zhixiu Li +3 more
2018Journal of Neuroimmunology16 citations Open access
Semantic Scholar
Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.
Tiger Zhou, E. Souzeau, O. Siggs, J. Landers +16 more
2017Investigative Ophthalmology and Visual Science16 citations Open access
Semantic Scholar
Rare variants in optic disc area gene CARD10 enriched in primary open‐angle glaucoma
Tiger Zhou, E. Souzeau, Shiwani Sharma, O. Siggs +14 more
2016Molecular Genetics & Genomic Medicine15 citations Open access
Semantic Scholar

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