Rachel C. Challis

Edinburgh, SCT, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Journal: Hormone research in paediatrics
Published: February 13, 2024

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

Journal: American journal of human genetics
Published: December 08, 2018

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Journal: American journal of human genetics
Published: August 06, 2018

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Journal: Nature genetics
Published: March 12, 2018

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.

Journal: Nature
Published: July 10, 2017

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

Journal: Nature genetics
Published: August 05, 2016

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.

Journal: Blood
Published: May 15, 2016

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.

Journal: Journal of the American Society of Nephrology : JASN
Published: October 30, 2015

Patient stratification and therapy in atypical haemolytic uraemic syndrome (aHUS).

Patient stratification and therapy in atypical haemolytic uraemic syndrome (aHUS).

Journal: Immunobiology
Published: March 25, 2015

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.

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: Journal of the American Society of Nephrology : JASN
Published: January 27, 2015

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

Journal: Journal of the American Society of Nephrology : JASN
Published: April 12, 2014
Showing 1-11 of 11

Last Updated: 09/26/2026