Deborah Morris-Rosendahl is the Asmarley Senior Research Fellow in the Molecular Genetics and Genomics Group in the National Heart and Lung Institute. She is the Scientific Director of the NHSE South East Genomic Laboratory Hub in London, Scientific Lead of the Genomics Innovation Unit at Guy's and St. Thomas' NHS Foundation Trust and heads the Clinical Genetics and Genomics Laboratory in the Royal Brompton and Harefield Hospitals Clinical Group as a Consultant Clinical Scientist.
Dr. Morris-Rosendahl obtained her BSc Honours Degree in Zoology with distinction from the University of Cape Town and then the Mammal Research Institute (MRI), University of Pretoria. With the dawn of recombinant DNA technology, she moved into the field of Human Genetics in 1983 and completed her PhD in human molecular genetics at the South African Institute for Medical Research and University of the Witwatersrand in 1989. Post-doctoral positions in the Mammal Research Institute, University of Pretoria, South Africa and Baylor College of Medicine, Houston, USA, were followed by her move to Germany after being awarded an Alexander von Humboldt Research Fellowship. After two years in in the Institute of Human Genetics in the Free University Berlin, she took up the position as head of the molecular genetics diagnostic laboratory in the Institute of Human Genetics, University of Freiburg Medical Center, where she obtained the “Habilitation” (Associate Professor) in 2003, before moving to London in 2012.
Dr. Morris-Rosendahl’s research has mostly involved the mapping and identification of new disease genes for both single gene disorders as well as complex neuropsychiatric conditions. Her focus on neurodevelopmental disorders led to the identification of novel genes and new genotype-phenotype associations for various disorders of cortical development, as well as to refining the genotype-phenotype correlations for lissencephaly, primary microcephaly and microcephaly syndromes. More recently, she has turned her attention to inherited cardiac and respiratory conditions for which her laboratory is commissioned to deliver specialist testing. In addition to refining genotype-phenotype relationships, research in the laboratory focuses on developing new and innovative approaches to delivering cutting-edge genomic diagnostics.
et al., 2022, Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis, European Respiratory Journal, Vol:60, ISSN:0903-1936
et al., 2020, Whole-gene sequencing of CFTR reveals a high prevalence of the intronic variant c.3874-4522A>G in cystic fibrosis., American Journal of Respiratory and Critical Care Medicine, Vol:201, ISSN:1073-449X, Pages:1438-1441
et al., 2019, De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry, American Journal of Human Genetics, Vol:105, ISSN:0002-9297, Pages:1030-1039
Hoehe MR, Morris-Rosendahl DJ, 2018, The role of genetics and genomics in clinical psychiatry, Dialogues in Clinical Neuroscience, Vol:20, ISSN:1294-8322, Pages:169-177
et al., 2018, CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation, Genetics in Medicine, Vol:20, ISSN:1098-3600, Pages:1246-1254
et al., 2015, <i>BRF1</i> mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies, Genome Research, Vol:25, ISSN:1088-9051, Pages:155-166
et al., 2015, <i>STIL</i> mutation causes autosomal recessive microcephalic lobar holoprosencephaly, Human Genetics, Vol:134, ISSN:0340-6717, Pages:45-51
et al., 2013, Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans., Am J Hum Genet, Vol:93, Pages:1001-1014
et al., 2013, Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome., Nat Genet, Vol:45, Pages:556-562
et al., 2013, Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome., Hum Mutat, Vol:34, Pages:686-696
et al., 2013, Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation., Orphanet J Rare Dis, Vol:8
et al., 2013, Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability., Hum Mutat, Vol:34, Pages:237-247