Marianne Lodahl

Copenhagen University Hospital — Denmark

Medicine · Health Sciences

17h-index1.5kcitations30works0.02yr avg
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Research Topics

Multiple Myeloma Research and Treatments(13), Connexins and lens biology(5), Hearing, Cochlea, Tinnitus, Genetics(4), Mitochondrial Function and Pathology(3), Glycosylation and Glycoproteins Research(3)

Publications30 total

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study
European Journal of Human Genetics·2026Open Access
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
Scientific Reports·2022· 7 citedOpen Access
The Global State of the Genetic Counseling Profession
European Journal of Human Genetics·2018· 366 citedOpen Access
Phenotypic subregions within the split-hand/foot malformation 1 locus
Human Genetics·2016· 18 cited
Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation
Gene·2015· 18 cited
Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss
Mitochondrion·2013· 33 cited
<i><scp>SLC26A4</scp></i> mutation frequency and spectrum in 109 Danish Pendred syndrome/<scp>DFNB4</scp> probands and a report of nine novel mutations
Clinical Genetics·2013· 38 cited
The phenotypic spectrum of dystonia in Mohr–Tranebjaerg syndrome
Movement Disorders·2012· 29 cited
Characterization of potential CD138 negative myeloma "stem cells"
Haematologica·2012· 23 citedOpen Access
Mutation update on the CHD7 gene involved in CHARGE syndrome
Human Mutation·2012· 252 cited
<i>GJB2</i>(Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland
International Journal of Audiology·2012· 10 cited
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region
American Journal of Medical Genetics Part A·2011· 11 citedOpen Access
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)
European Journal of Medical Genetics·2011· 16 cited
Identification of p.A684V missense mutation in the <i>WFS1</i> gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
American Journal of Medical Genetics Part A·2011· 119 citedOpen Access
Usher syndrome : diagnostic utility of the Asper biotech's genotyping microarray
2011
Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss
International Journal of Pediatric Otorhinolaryngology·2010· 10 cited
A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
Clinical and Experimental Dermatology·2010· 34 cited
Identification of translocation products but not K-RAS mutations in memory B cells from patients with multiple myeloma
Haematologica·2010· 49 citedOpen Access
Regulation of the CD56 promoter and its association with proliferation, anti-apoptosis and clinical factors in multiple myeloma
Leukemia & lymphoma/Leukemia and lymphoma·2009· 17 cited
Upregulated <i>MCL1</i> mRNA expression in multiple myeloma lacks association with survival
British Journal of Haematology·2008· 6 citedOpen Access
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Frequent Co-authors

Lisbeth Tranebjærg(14), Nanna Dahl Rendtorff(12), Thomas Rasmussen(11), Inger Marie S. Dahl(7), Lene Meldgaard Knudsen(7), Hans Erik Johnsen(6), Niels Abildgaard(4), Jacob Haaber(3), Gitte Kerndrup(3), Heidi Rye Hudlebusch(3), Michael Kuehl(2), Houda Boulahbel(2), Toril Fagerheim(2), Claes Möller(2), T. Rasmussen(2), Zeynep Tümer(2), Valério Carelli(2), Kim Theilgaard‐Mönch(2), Jacob Haaber Christensen(2), Mads Bak(2)