Nature Search

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene

Eye2Gene’s next-generation phenotyping of multimodal images increases diagnostic yield for inherited retinal diseases by improving screening, phenotype-driven variant prioritization and automatic similarity matching in phenotypic space to drive gene discovery.

Nikolas Pontikos
William A. Woof
Michel Michaelides
ResearchOpen Access18 Jun 2025
Nature Machine Intelligence

Volume: 7, P: 967-978
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions.

Ana Rio-Machin
Tom Vulliamy
Inderjeet Dokal
ResearchOpen Access25 Feb 2020
Nature Communications

Volume: 11, P: 1-12
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

Large-scale sequence-based analyses identify novel risk variants and susceptibility genes for Crohn’s disease, and implicate mesenchymal cell-mediated intestinal homeostasis in disease etiology.

Aleksejs Sazonovs
Christine R. Stevens
Mark J. Daly
Research29 Aug 2022
Nature Genetics

Volume: 54, P: 1275-1283
A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds

Ji-Peng Olivia Li
Howard P. Maile
Daniel M. Gore
Research26 Feb 2024
Eye

Volume: 38, P: 1681-1686
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Yu Fujinami-Yokokawa
Kaoru Fujinami
Yasuhiro Murakawa
ResearchOpen Access12 Jun 2020
Scientific Reports

Volume: 10, P: 1-13
Predicting sex from retinal fundus photographs using automated deep learning

Edward Korot
Nikolas Pontikos
Pearse A. Keane
ResearchOpen Access13 May 2021
Scientific Reports

Volume: 11, P: 1-8
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

Vanita Berry
Alex Ionides
Michel Michaelides
ResearchOpen Access03 Aug 2021
Eye

Volume: 36, P: 1694-1701
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract

Vanita Berry
Alexander C. W. Ionides
Michel Michaelides
Research22 Jun 2018
Eye

Volume: 32, P: 1661-1668
Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology

Here authors show that machine learning derives the degree of background retinal pigmentation with more nuance than self-described ethnicity. Retinal pigment scores are associated with genes linked to melanin and may improve algorithmic fairness.

Anand E. Rajesh
Abraham Olvera-Barrios
Yalin Zheng
ResearchOpen Access02 Jan 2025
Nature Communications

Volume: 16, P: 1-14
The GA4GH Phenopacket schema defines a computable representation of clinical data

Julius O. B. Jacobsen
Michael Baudis
Peter N. Robinson
Correspondence15 Jun 2022
Nature Biotechnology

Volume: 40, P: 817-820
Code-free deep learning for multi-modality medical image classification

Several technology companies offer platforms for users without coding experience to develop deep learning algorithms. This Analysis compares the performance of six ‘code-free deep learning’ platforms (from Amazon, Apple, Clarifai, Google, MedicMind and Microsoft) in creating medical image classification models.

Edward Korot
Zeyu Guan
Pearse A. Keane
ResearchOpen Access01 Mar 2021
Nature Machine Intelligence

Volume: 3, P: 288-298
Macular, choroidal and disc associations across women’s reproductive life stages: a scoping review from menarche to post-menopause

Ana Paula Ribeiro Reis
Estelle Ioannidou
Praveen J. Patel
ReviewsOpen Access15 Jan 2025
Eye

Volume: 39, P: 402-411
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

Lizhu Yang
Kaoru Fujinami
Yasuhiro Murakawa
ResearchOpen Access26 Mar 2020
Scientific Reports

Volume: 10, P: 1-10
Visual and anatomical failure of anti-VEGF therapy for retinal vascular diseases: a survival analysis of real-world data

Dun Jack Fu
Amit V. Mishra
Livia Faes
ResearchOpen Access10 Dec 2024
Eye

Volume: 39, P: 977-985
Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

Roberto Bonelli
Victoria E. Jackson
Melanie Bahlo
Amendments and CorrectionsOpen Access09 Apr 2021
Communications Biology

Volume: 4, P: 1
A foundation model for generalizable disease detection from retinal images

RETFound, a foundation model for retinal images that learns generalizable representations from unlabelled images, is trained on 1.6 million unlabelled images by self-supervised learning and then adapted to disease detection tasks with explicit labels.

Yukun Zhou
Mark A. Chia
Pearse A. Keane
ResearchOpen Access13 Sept 2023
Nature

Volume: 622, P: 156-163
Retinal morphology across the menstrual cycle: insights from the UK Biobank

Ana Paula Ribeiro Reis
Estelle Ioannidou
Praveen J. Patel
ResearchOpen Access08 Nov 2024
npj Women's Health

Volume: 2, P: 1-12
CUGC for posterior polymorphous corneal dystrophy (PPCD)

Alice E. Davidson
Nathaniel J. Hafford-Tear
Petra Liskova
ResearchOpen Access14 Jun 2019
European Journal of Human Genetics

Volume: 28, P: 126-131
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

Melanie Bahlo and colleagues report a genome-wide association study on the retinal degenerative disease Macular Telangiectasia Type 2, identifying 8 new genome-wide significant loci. Further analyses suggest key roles for genes that transport and synthesize the amino acids serine, glycine and alanine, providing a more accurate genomic tool for identifying people at risk of the disease.

Roberto Bonelli
Victoria E. Jackson
Melanie Bahlo
ResearchOpen Access02 Mar 2021
Communications Biology

Volume: 4, P: 1-14
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Alison Hardcastle et al. report a genome-wide meta-analysis of keratoconus, a condition affecting the cornea that causes blurred vision and often leads to blindness. They identify 36 genomic regions associated with keratoconus, 31 of which are novel, and show that the genes in these regions implicate genetic pathways involved in collagen matrix integrity and cell differentiation.

Alison J. Hardcastle
Petra Liskova
Pirro G. Hysi
ResearchOpen Access01 Mar 2021
Communications Biology

Volume: 4, P: 1-13
Standardizing Flow Cytometry Immunophenotyping Analysis from the Human ImmunoPhenotyping Consortium

Greg Finak
Marc Langweiler
J Philip McCoy
ResearchOpen Access10 Feb 2016
Scientific Reports

Volume: 6, P: 1-11
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

Valentina Cipriani
Raquel S. Silva
Anthony T. Moore
ResearchOpen Access08 Aug 2017
Scientific Reports

Volume: 7, P: 1-9
Exploring the potential for acute anterior uveitis (AAU) patients to self-manage recurrences via a mobile application: qualitative analysis of a Moorfields Patient Experience focus group

Shweta Lahiri
Dayyanah Sumodhee
Rose Gilbert
Correspondence23 Sept 2020
Eye

Volume: 35, P: 2895-2896
Convolutional neural network-based classification of glaucoma using optic radiation tissue properties

Kruper et al. investigate the impact of glaucoma on brain tissue by comparing MRI data from 856 people with glaucoma to matched controls without glaucoma. They find that neural networks using tissue properties from visual brain connections more accurately detect glaucoma than those trained on non-visual brain connections.

John Kruper
Adam Richie-Halford
Yalin Zheng
ResearchOpen Access11 Apr 2024
Communications Medicine

Volume: 4, P: 1-10

Search

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Predicting sex from retinal fundus photographs using automated deep learning

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract

Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology

The GA4GH Phenopacket schema defines a computable representation of clinical data

Code-free deep learning for multi-modality medical image classification

Macular, choroidal and disc associations across women’s reproductive life stages: a scoping review from menarche to post-menopause

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

Visual and anatomical failure of anti-VEGF therapy for retinal vascular diseases: a survival analysis of real-world data

Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

A foundation model for generalizable disease detection from retinal images

Retinal morphology across the menstrual cycle: insights from the UK Biobank

CUGC for posterior polymorphous corneal dystrophy (PPCD)

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Standardizing Flow Cytometry Immunophenotyping Analysis from the Human ImmunoPhenotyping Consortium

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

Exploring the potential for acute anterior uveitis (AAU) patients to self-manage recurrences via a mobile application: qualitative analysis of a Moorfields Patient Experience focus group

Convolutional neural network-based classification of glaucoma using optic radiation tissue properties

Search

Quick links

Search

Filter By:

Search

Quick links