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Author Details

Christoffer Nell??ker
Big Data Institute, University of Oxford
2006
35
20
PMIDPaper TitleJournal TitlePublished Year
37503210GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.medRxiv2024
36711652The genetic architecture of changes in adiposity during adulthood.medRxiv2023
37426704Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis.SSM Qual Res Health2023
36384545"I don't think people are ready to trust these algorithms at face value": trust and the use of machine learning algorithms in the diagnosis of rare disease.BMC Med Ethics2022
35346573Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.Genet Med2022
35490555Transcriptome and fatty-acid signatures of adipocyte hypertrophy and its non-invasive MR-based characterization in human adipose tissue.EBioMedicine2022
34212383CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.Clin Genet2021
33743206A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.Am J Hum Genet2021
33513338Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.Am J Hum Genet2021
33426479The case for open science: rare diseases.JAMIA Open2020
31873296A call for global action for rare diseases in Africa.Nat Genet2020
30568311Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.Genet Med2019
29907800Big data phenotyping in rare diseases: some ethical issues.Genet Med2019
30827496Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.Am J Hum Genet2019
31172050Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21 <sup>st</sup> Newborn Case-Control Study protocol.Gates Open Res2019
29097605PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.J Med Genet2018
29861108De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.Am J Hum Genet2018
28151491Clinical and molecular consequences of disease-associated de novo mutations in SATB2.Genet Med2017
24478419Transcriptional derepression of the ERVWE1 locus following influenza A virus infection.J Virol2014
25456137The RNA-editing enzyme ADAR1 controls innate immune responses to RNA.Cell Rep2014
24963138Diagnostically relevant facial gestalt information from ordinary photos.Elife2014
25125236Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.J Med Genet2014
22524474High levels of RNA-editing site conservation amongst 15 laboratory mouse strains.Genome Biol2012
22703977The genomic landscape shaped by selection on transposable elements across 18 mouse strains.Genome Biol2012
21226900A systematic evaluation of expression of HERV-W elements; influence of genomic context, viral structure and orientation.BMC Genomics2011
21921916Sequence-based characterization of structural variation in the mouse genome.Nature2011
21921910Mouse genomic variation and its effect on phenotypes and gene regulation.Nature2011
21721940Rapid turnover of functional sequence in human and other genomes.Annu Rev Genomics Hum Genet2011
19919688Expression profiling of repetitive elements by melting temperature analysis: variation in HERV-W gag expression across human individuals and tissues.BMC Genomics2009
17559415Elevated levels of human endogenous retrovirus-W transcripts in blood cells from patients with first episode schizophrenia.Genes Brain Behav2008
18786251Mixture models for analysis of melting temperature data.BMC Bioinformatics2008
17110472Molecular beacon-based temperature control and automated analyses for improved resolution of melting temperature analysis using SYBR I green chemistry.Clin Chem2007
17454446Influenza A virus transactivates the mouse envelope gene encoding syncytin B and its regulator, glial cells missing 1.J Neurovirol2007
16704921Evaluation of minor groove binding probe and Taqman probe PCR assays: Influence of mismatches and template complexity on quantification.Mol Cell Probes2006
16822326Transactivation of elements in the human endogenous retrovirus W family by viral infection.Retrovirology2006
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Collaborators

Chris P Ponting
The University of Edinburgh
Co-authored papers 6
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 5
Thomas M Keane
European Bioinformatics Institute
Co-authored papers 4
David J Adams
Wellcome Sanger Institute
Co-authored papers 4
Jonathan Flint
Center for Neurobehavioral Genetics
Co-authored papers 4
Robert H Yolken
Co-authored papers 4
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 4
Shehla Mohammed
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 3
Bert B A de Vries
Radboud University Medical Center
Co-authored papers 3
Cecilia M Lindgren
Co-authored papers 3
Christian Gilissen
Radboud University Medical Center
Co-authored papers 3
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 3
Ann Nordgren
Co-authored papers 3
Richard Durbin
University of Cambridge
Co-authored papers 2
Sofia Douzgou
Haukeland University Hospital
Co-authored papers 2
Jayne Y Hehir-Kwa
Princess Maxima Center for Pediatric Oncology
Co-authored papers 2
Kelly Radtke
Co-authored papers 2
Maria Bitner-Glindzicz
UCL Great Ormond Street Institute of Child Health Library
Co-authored papers 2
Leo Goodstadt
Medical Research Council Functional Genomics Unit, University of Oxford
Co-authored papers 2
Manuel Posada
Institute of Rare Diseases Research, Instituto de Salud Carlos III
Co-authored papers 2
Fiona Stewart
Belfast City Hospital
Co-authored papers 2
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 2
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 2
Sahar Mansour
St George's University Hospitals NHS Foundation Trust
Co-authored papers 2
Sally Ann Lynch
University College Dublin
Co-authored papers 2
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 2
Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 2
Charu Deshpande
Guy's Hospital
Co-authored papers 2
Domenica Taruscio
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 2
Alexander J M Dingemans
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 2
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