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D. Lildballe · SciRah

Researcher profile · Semantic Scholar

D. Lildballe

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D. Lildballe — researcher profile on SciRah

h-index: 19
Works: 75
Citations: 979

Most-cited papers

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans
P. Brophy, M. Rasmussen, Mrutyunjaya Parida, Gregory Bonde +13 more
2017Genetics81 citations Open access
Semantic Scholar
Cobalamin and haptocorrin in human milk and cobalamin-related variables in mother and child: a 9-mo longitudinal study.
E. Greibe, D. Lildballe, S. Streym, P. Vestergaard +3 more
2013American Journal of Clinical Nutrition78 citations Open access
Semantic Scholar
Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies
M. Rasmussen, L. Sunde, M. L. Nielsen, M. Ramsing +12 more
2018Clinical Genetics54 citations Open access
Semantic Scholar
Breast milk vitamin B-12 concentrations in Guatemalan women are correlated with maternal but not infant vitamin B-12 status at 12 months postpartum.
K. Deegan, Katherine M. Jones, Clara Zuleta, M. Ramírez-Zea +3 more
2012Journal of NutriLife52 citations Open access
Semantic Scholar
Uptake of cobalamin and markers of cobalamin status: a longitudinal study of healthy pregnant women
E. Greibe, B. Andreasen, D. Lildballe, A. Mørkbak +2 more
2011Clinical Chemistry and Laboratory Medicine51 citations Open access
Semantic Scholar
On the road to replacing invasive testing with cell‐based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism
E. Vestergaard, Ripudaman Singh, P. Schelde, L. Hatt +6 more
2017Prenatal Diagnosis48 citations
Semantic Scholar
The expression level of the chromatin-associated HMGB1 protein influences growth, stress tolerance, and transcriptome in Arabidopsis.
D. Lildballe, D. S. Pedersen, Rainer Kalamajka, J. Emmersen +2 more
2008Journal of Molecular Biology46 citations
Semantic Scholar
Nucleocytoplasmic Distribution of the Arabidopsis Chromatin-Associated HMGB2/3 and HMGB4 Proteins1[W][OA]
D. S. Pedersen, T. Merkle, Barbara Marktl, D. Lildballe +5 more
2010Plant Physiology41 citations Open access
Semantic Scholar
Mouse Transcobalamin Has Features Resembling both Human Transcobalamin and Haptocorrin
K. Hygum, D. Lildballe, E. Greibe, A. Mørkbak +4 more
2011PLoS ONE39 citations Open access
Semantic Scholar
Haptocorrin as marker of disease progression in fibrolamellar hepatocellular carcinoma.
D. Lildballe, K. T. Nguyen, S. S. Poulsen, H. Nielsen +1 more
2011European Journal of Surgical Oncology39 citations Open access
Semantic Scholar
High concentrations of haptocorrin interfere with routine measurement of cobalamins in human serum and milk. A problem and its solution
D. Lildballe, T. Hardlei, L. Allen, E. Nexo
2009Clinical Chemistry and Laboratory Medicine34 citations
Semantic Scholar
Association of cognitive impairment with combinations of vitamin B₁₂-related parameters.
D. Lildballe, S. Fedosov, P. Sherliker, H. Hin +2 more
2011Clinical Chemistry31 citations Open access
Semantic Scholar
Maximal Load of the Vitamin B12 Transport System: A Study on Mice Treated for Four Weeks with High-Dose Vitamin B12 or Cobinamide
D. Lildballe, E. Mutti, H. Birn, E. Nexo
2012PLoS ONE28 citations Open access
Semantic Scholar
Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome.
M. Christiansen, K. Kjaer-Sorensen, N. Clavsen, S. Dittmann +16 more
2023Heart Rhythm25 citations Open access
Semantic Scholar
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.
Signe Vaeth, Rikke Christensen, M. Duno, D. Lildballe +6 more
2019European Journal of Medical Genetics24 citations Open access
Semantic Scholar
Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease‐causing variants
L. D. Jeppesen, D. Lildballe, L. Hatt, Jakob Hedegaard +6 more
2022Prenatal Diagnosis20 citations Open access
Semantic Scholar
Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism
R. Laursen, B. Alsbjerg, Ida Vogel, C. Gravholt +4 more
2018Journal of Assisted Reproduction and Genetics20 citations Open access
Semantic Scholar
Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination
Luise Aamann, Nikolaj W. Ørntoft, I. Vogel, H. Grønbaek +4 more
2018Scandinavian Journal of Gastroenterology19 citations
Semantic Scholar
Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing
M. Rasmussen, L. Sunde, Karen Petra Weigert, Pauline Bogaard +1 more
2014American Journal of Medical Genetics. Part A19 citations Open access
Semantic Scholar
Comparison of the ABC and ACMG systems for variant classification
G. Houge, E. Bratland, I. Aukrust, K. Tveten +44 more
2024European Journal of Human Genetics16 citations Open access
Semantic Scholar
Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy
Ida C. Bay Lund, N. Becher, Jesper Graakjaer, D. Lildballe +5 more
2021Prenatal Diagnosis14 citations Open access
Semantic Scholar
National data on the early clinical use of non‐invasive prenatal testing in public and private healthcare in Denmark 2013–2017
I. B. Lund, O. Petersen, N. Becher, D. Lildballe +13 more
2020Acta Obstetricia et Gynecologica Scandinavica14 citations Open access
Semantic Scholar
Effect of the vitamin B12-binding protein haptocorrin present in human milk on a panel of commensal and pathogenic bacteria
Henrik R Jensen, M. Laursen, D. Lildballe, J. B. Andersen +2 more
2011BMC Research Notes12 citations Open access
Semantic Scholar
Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy
K. Calloe, Helena B. D. Magnusson, D. Lildballe, M. Christiansen +1 more
2023Frontiers in Cardiovascular Medicine11 citations Open access
Semantic Scholar
Cell‐based non‐invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis
L. D. Jeppesen, L. Hatt, Ripudaman Singh, K. Ravn +5 more
2020Prenatal Diagnosis11 citations Open access
Semantic Scholar
Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship
I. Vogel, P. Ott, D. Lildballe, S. Hamilton-Dutoit +2 more
2017Clinical Case Reports11 citations Open access
Semantic Scholar
Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes
S. E. Boonen, A. Freschi, Rikke Christensen, Federica Maria Valente +8 more
2016Clinical Epigenetics11 citations Open access
Semantic Scholar
Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT
L. D. Jeppesen, L. Hatt, Ripudaman Singh, P. Schelde +4 more
2021Frontiers in Genetics10 citations Open access
Semantic Scholar
A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia
E. Henningsen, M. T. Svendsen, D. Lildballe, P. K. Jensen
2014American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Vitamin B₁₂ dependent changes in mouse spinal cord expression of vitamin B₁₂ related proteins and the epidermal growth factor system.
E. Mutti, D. Lildballe, L. Kristensen, H. Birn +1 more
2013Brain Research10 citations
Semantic Scholar
Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.
E. Erbs, J. Fenger‐Grøn, C. Jacobsen, D. Lildballe +1 more
2021European Journal of Medical Genetics9 citations
Semantic Scholar
The Danish HD Registry—a nationwide family registry of HD families in Denmark
M. Gilling, Esben Budtz-Jørgensen, S. E. Boonen, D. Lildballe +3 more
2017Clinical Genetics9 citations
Semantic Scholar
PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
M. Rasmussen, M. L. Nielsen, J. Man̆ák, H. Mogensen +1 more
2020Clinical Kidney Journal8 citations Open access
Semantic Scholar
Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening.
D. Lildballe, I. Vogel, O. Petersen, E. Vestergaard
2014Danish Medical Journal8 citations
Semantic Scholar
Functional megalin is expressed in renal cysts in a mouse model of adult polycystic kidney disease
M. L. Nielsen, Mia C Mundt, D. Lildballe, M. Rasmussen +4 more
2021Clinical Kidney Journal7 citations Open access
Semantic Scholar
A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018
D. Lildballe, N. Becher, E. Vestergaard, Rikke Christensen +6 more
2023Acta Obstetricia et Gynecologica Scandinavica6 citations Open access
Semantic Scholar
Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls
L. D. Jeppesen, L. Hatt, Ripudaman Singh, P. Schelde +10 more
2023Frontiers in Genetics6 citations Open access
Semantic Scholar
Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.
M. L. Nielsen, D. Lildballe, M. Rasmussen, A. Bojesen +2 more
2021European Journal of Medical Genetics6 citations Open access
Semantic Scholar
Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution
D. Lildballe, Morten Reiffenstein Huno, L. Ridder, C. M. Balle +7 more
2026European Journal of Human Genetics5 citations Open access
Semantic Scholar
Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease
Jeff Granhøj, Birgitte Tougaard, D. Lildballe, M. Rasmussen
2021Nephron5 citations
Semantic Scholar
Non‐invasive prenatal testing offered as part of a combined first‐trimester screening program identifies tetrasomy 18p in a high‐risk pregnancy
D. Lildballe, I. Vogel, I. B. Lund, I. Stornes +2 more
2016Prenatal Diagnosis5 citations
Semantic Scholar
Wilson disease is a single gene disorder – comprehensive analysis of patients with prior negative genetic testing
D. Lildballe, A. Grosen, Peter Ott, Isabelle Mohr +7 more
2026JHEP Reports3 citations Open access
Semantic Scholar
Short-read genome sequencing at population scale: diagnostic insights from 2317 patients
S. L. Faergeman, L. Andreasen, N. Becher, Mette Christiansen +8 more
2026European Journal of Human Genetics3 citations Open access
Semantic Scholar
MUC1-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families
Jeff Granhøj, D. Lildballe, K. V. Pedersen, Birgitte Tougaard +7 more
2024Clinical Kidney Journal3 citations Open access
Semantic Scholar
Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus
M. K. Kristiansen, I. Niemann, J. Lindegaard, M. Christiansen +4 more
2016Medicine3 citations Open access
Semantic Scholar
Automated variant re-evaluation is labor-balanced and gives clinically relevant results: hereditary cardiac disease as a use case.
A. Grosen, C. Lautrup, Emil Bahsen, H. K. Jensen +1 more
2024European Journal of Medical Genetics2 citations Open access
Semantic Scholar
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
D. Lildballe, Anja Lisbeth Frederiksen, Bitten Schönewolf-Greulich, C. Brasch-Andersen +16 more
2023European Journal of Medical Genetics2 citations
Semantic Scholar
Cover Image, Volume 37, Issue 11
E. Vestergaard, Ripudaman Singh, P. Schelde, L. Hatt +6 more
2022Computer-Aided Civil and Infrastructure Engineering2 citations Open access
Semantic Scholar
Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy
L. D. Jeppesen, T. D. Hjortshøj, J. Hindkjær, L. Hatt +7 more
2022Frontiers in Genetics2 citations Open access
Semantic Scholar
Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction
C. M. Balle, D. Lildballe, I. Bedei, Ruth Luschka +8 more
2025Clinical Chemistry and Laboratory Medicine1 citations
Semantic Scholar

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I. Vogel×12
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M. Rasmussen×9
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E. Nexo×9
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E. Vestergaard×8
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L. D. Jeppesen×5

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