Christoffer Nellåker
Christoffer Nellåker
Research Fellow, Nuffield Department of Women's & Reproductive Health
Rare diseases are individually rare but collectively very common. It is estimated that one in seventeen people have some type of rare disease. Clinicians frequently look for characteristic changes in facial features to help find a diagnosis.
Dr. Nellåker’s group is translating the latest developments in computer vision and computational biology to aid diagnosis of rare diseases. The work is a collaborative effort to apply the latest techniques from facial recognition research for disease phenotyping. The aim is to bring this to clinical use to help narrow down the search for a correct diagnosis and to be used together with genome sequencing to identify mutations causing disease.
Key publications
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Diagnostically relevant facial gestalt information from ordinary photos.
Journal article
Ferry Q. et al, (2014), eLife, 3
Recent publications
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Journal article
den Hoed J. et al, (2021), American journal of human genetics
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The case for open science: rare diseases.
Journal article
Rubinstein YR. et al, (2020), JAMIA open, 3, 472 - 486
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Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits.
Journal article
Glastonbury CA. et al, (2020), PLoS computational biology, 16
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A call for global action for rare diseases in Africa.
Journal article
Baynam GS. et al, (2020), Nature genetics, 52, 21 - 26
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Journal article
Cogné B. et al, (2019), American journal of human genetics, 104, 530 - 541