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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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
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Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21st Newborn Case-Control Study protocol
Journal article
Kennedy S. et al, (2019)
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Big data phenotyping in rare diseases: some ethical issues.
Journal article
Hallowell N. et al, (2019), Genetics in medicine : official journal of the American College of Medical Genetics, 21, 272 - 274
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Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Journal article
Nellåker C. et al, (2019), Frontiers in genetics, 10
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Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
Journal article
van der Donk R. et al, (2018), Genetics in medicine : official journal of the American College of Medical Genetics