Deborah Morris-Rosendahl

10PUBLICATIONS
77CO-AUTHORS
Infant and child healthGenetics not elsewhere classifiedRespiratory diseasesHaematologyEpigenetics (incl. genome methylation and epigenomics)
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Publications (10)

|Dec 28, 2024
Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

Niamh R Wilkinson, Elena Cervi, Bart Wagner

|Apr 18, 2024
A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a patient with Noonan syndrome with multiple lentigines.

Olivia Kuo, Kevin Molloy, Ataf Sabir

|Apr 11, 2024
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.

Andrew Fleming, Miranda Galey, Lizi Briggs

|Jan 11, 2024
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.

Kinshuk Jain, Sarah C McCarley, Ghazel Mukhtar

|Jul 13, 2023
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.

Jesse B Hayesmoore, Zahurul A Bhuiyan, Domenico A Coviello

|Jun 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Camille Engel, Stéphanie Valence, Geoffroy Delplancq

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Frequent Collaborators

2 joint publications

Matthew Edwards

2 joint publications

Vincenzo Salpietro

2 joint publications

Pasquale Striano

2 joint publications

Marie-Coralie Cornet