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Déborah Morris-Rosendahl

Royal Brompton & Harefield NHS Foundation Trust(GB)Harefield Hospital(GB)Imperial College London(GB)

Publications by Year

Research Areas

Cystic Fibrosis Research Advances, Genetic and Kidney Cyst Diseases, Cardiomyopathy and Myosin Studies, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation

Most-Cited Works

→ Neurodevelopmental disorders—the history and future of a diagnosticconcept(2020)463 cited
→ The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis(2011)246 cited
→ Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder?(1998)208 cited
→ De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry(2019)205 cited
→ Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans(2013)138 cited
→ Mutation Spectrum inRAB3GAP1,RAB3, andand Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

GAP

2

RAB

18

(2013)

129 cited

→ Brief research communication: serotonin transporter (5-HTT) gene polymorphisms are not associated with susceptibility to mood disorders(1998)124 cited

→ Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome(2013)116 cited

→ Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum(2010)112 cited

→ Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia(2021)105 cited