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J. Harris · SciRah

Researcher profile · Semantic Scholar

J. Harris

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J. Harris — researcher profile on SciRah

h-index: 16
Works: 26
Citations: 1,822

Most-cited papers

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
A. Cortes, J. Hadler, J. Pointon, P. Robinson +61 more
2013Nature Genetics854 citations Open access
Semantic Scholar
Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility
M. Landi, D. Bishop, S. Macgregor, M. Machiela +148 more
2020Nature Genetics198 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
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
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
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
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short‐rib thoracic dystrophies
A. McInerney-Leo, J. Harris, P. Leo, M. Marshall +10 more
2015Clinical Genetics53 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
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
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
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
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
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
Epistatic interactions between killer immunoglobulin-like receptors and human leukocyte antigen ligands are associated with ankylosing spondylitis
A. Hanson, Damjan Vukcevic, S. Leslie, J. Harris +3 more
2020PLoS Genetics17 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
Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours
Aidan J. Flynn, T. Dwight, Diana E. Benn, S. Deb +17 more
2017Journal of Pathology9 citations Open access
Semantic Scholar
A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case
Anu Närhi, Andrea Fernandes, S. Toiviainen-Salo, J. Harris +4 more
2021American Journal of Medical Genetics. Part A7 citations Open access
Semantic Scholar
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis
A. McInerney-Leo, Hui-Yi Chew, Po-Ling Inglis, P. Leo +16 more
2021Human Molecular Genetics5 citations Open access
Semantic Scholar
Point mutation in p14ARF‐specific exon 1β of CDKN2A causing familial melanoma and astrocytoma
A. M. McInerney-Leo, L. Wheeler, R. Sturm, J.-M. Tan +7 more
2018British Journal of Dermatology2 citations
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 Medicine1 citations Open access
Semantic Scholar
OP0201 Exomewide Association Study of Ankylosing Spondylitis Identifies Additional Coding Region Genetic Associations with as and Strengthens Evidence of Shared Genetic Background with Inflammatory Bowel Disease
P. Robinson, P. Leo, Jennifer J. Pointon, J. Harris +7 more
20151 citations
Semantic Scholar
Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis
Katie Cremin, P. Leo, J. Harris, E. De Smit +5 more
2014Genes and Immunity1 citations Open access
Semantic Scholar
Germline ERBB3 mutation in familial non-small cell lung carcinoma: expanding the role of the ErbB family in oncogenesis
A. McInerney-Leo, Hui-Yi Chew, Po-Ling Inglis, P. Leo +16 more
2020bioRxiv0 citations Open access
Semantic Scholar
Point mutation in p14ARF-specific exon 1Beta of CDKN2A causing familial melanoma and astrocytoma (Research Letter)
A. M. McInerney-Leo, L. Wheeler, R. Sturm, Jean-Marie Tan +7 more
20180 citations
Semantic Scholar
Rare Mediterranean Fever (MEFV) gene polymorphisms are associated with Ankylosing spondylitis in Turkish and Iranian population (Conference Abstract)
Zhixiu Li, S. Akar, H. Yarkan, P. Çetin +4 more
20160 citations
Semantic Scholar

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