Rachel Challis

MRC Institute of Genetics and Molecular Medicine — United Kingdom

Immunology and Microbiology · Life Sciences

11h-index1.1kcitations17works1.02yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Complement system in diseases(8), DNA Repair Mechanisms(4), Genetics and Neurodevelopmental Disorders(4), Iron Metabolism and Disorders(3), Hemoglobinopathies and Related Disorders(3)

Publications17 total

Genetic Findings in Short Turkish Children Born to Consanguineous Parents
Hormone Research in Paediatrics·2024· 1 citedOpen Access
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
The American Journal of Human Genetics·2019· 41 citedOpen Access
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
The American Journal of Human Genetics·2018· 105 citedOpen Access
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
Nature Genetics·2018· 151 citedOpen Access
CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions
Nature·2018· 402 citedOpen Access
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
Nature Genetics·2017· 109 citedOpen Access
Thrombotic Microangiopathy in Inverted Formin 2–Mediated Renal Disease
Journal of the American Society of Nephrology·2016· 51 citedOpen Access
Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature
Blood·2016· 111 citedOpen Access
Characterisation of a novel hybrid CFH/CFHR3 protein with impaired cell surface complement regulation in atypical haemolytic uraemic syndrome
The Lancet·2016Open Access
A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H–Related 3 Gene in Atypical Hemolytic Uremic Syndrome
Journal of the American Society of Nephrology·2015· 39 citedOpen Access
Patient stratification and therapy in atypical haemolytic uraemic syndrome (aHUS)
Immunobiology·2015· 8 cited
Genetics of atypical haemolytic uraemic syndrome
2015· 2 cited
Characterization of a Factor H Mutation That Perturbs the Alternative Pathway of Complement in a Family with Membranoproliferative GN
Journal of the American Society of Nephrology·2014· 42 citedOpen Access
Characterization of 15 STR cannabis loci: Nomenclature proposal and SNPSTR haplotypes
Forensic Science International Genetics·2013· 20 cited
Atypical haemolytic uraemic syndrome associated with a novel hybrid CFH/CFHR3 gene
Molecular Immunology·2013
Familial membranoproliferative glomerulonephritis type I associated with a functionally significant mutation in complement factor H
Immunobiology·2012
Safe introduction of warfarin for thrombotic prophylaxis in atrial fibrillation requiring only a weekly INR
Clinical & Laboratory Haematology·2004· 13 cited

Frequent Co-authors

David Kavanagh(8), Edwin Wong(7), Andrew P. Jackson(6), Kevin J. Marchbank(5), Martin A.M. Reijns(4), Lisa Strain(4), Timothy H.J. Goodship(4), Holly E. Anderson(4), Žygimantė Tarnauskaitė(3), Adeline Fluteau(3), Clare V. Logan(3), Claire L. Harris(3), Olga Murina(2), David Parry(2), Oliver Floßmann(2), Louise S. Bicknell(2), Jennie Murray(2), Michael B. Bober(2), Carol A. Wise(2), Javier Santoyo‐López(2)