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Johanne M D Hahnemann

Observed names: Hahnemann, J.M., Hahnemann, Johanne, J M D Hahnemann, J M Hahnemann, J. Hahnemann, J. M. D. Hahnemann, J. M. Hahnemann, J. M.D. Hahnemann, J.M. Hahnemann, Johanne Hahnemann, Johanne M Hahnemann, Johanne M. D. Hahnemann, Johanne M. Hahnemann, Johanne M.D. Hahnemann, Johanne MD Hahnemann
Institution: Kennedy Center
OpenAlex ID: A5113545513
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
2008 · Deborah J G Mackay, Jonathan L A Callaway, et al. · Nature Genetics · 540
Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries
2001 · J. H. Olsen, J. M. Hahnemann, et al. · JNCI Journal of the National Cancer Institute · 239
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
2006 · D. J. G. Mackay, S. E. Boonen, et al. · Human Genetics · 196
Accuracy of cytogenetic findings on Chorionic Villus Sampling (CVS)—diagnostic consequences of CVS Mosaicism and non-Mosaic Discrepancy in Centres contributing to EUCROMIC 1986–1992
1997 · Johanne M. Hahnemann, Lars O. Vejerslev · Prenatal Diagnosis · 196
European collaborative research on mosaicism in CVS (EUCROMIC)—fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy
1997 · Johanne M. Hahnemann, Lars O. Vejerslev · American Journal of Medical Genetics · 151
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
1998 · Georgia Karadima, Merete Bugge, et al. · European Journal of Human Genetics · 132
Non-disjunction of chromosome 13
2007 · M. Bugge, A. Collins, et al. · Human Molecular Genetics · 120
Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci
2012 · Susanne E. Boonen, Deborah J.G. Mackay, et al. · Diabetes Care · 94
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Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations
2005 · Johanne M.D. Hahnemann, Marta Nir, et al. · American Journal of Medical Genetics Part A · 85
Characterization ofATM mutations in 41 Nordic families with Ataxia Telangiectasia
2000 · K. Laake, L. Jansen, et al. · Human Mutation · 66
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Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
2006 · D. J. G Mackay, J. M. D. Hahnemann, et al. · Human Genetics · 64
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
2008 · Susanne E Boonen, Sven Pörksen, et al. · European Journal of Human Genetics · 56
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia
2005 · J H Olsen, J M D Hahnemann, et al. · British Journal of Cancer · 51
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Deletions and rearrangements of the H19 / IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardation
2011 · Karen Grønskov, Rebecca L Poole, et al. · Journal of Medical Genetics · 41
Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood
2007 · Birthe S Olsen, Johanne MD Hahnemann, et al. · Pediatric Diabetes · 36
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Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57
2016 · Mads Bak, Susanne E. Boonen, et al. · BMC Medical Genetics · 34
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Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
2005 · Marie Sogaard, Zeynep Tümer, et al. · BMC Medical Genetics · 30
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No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome
2011 · Susanne E Boonen, Johanne M D Hahnemann, et al. · European Journal of Human Genetics · 20
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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus
2010 · Annemieke J.M.H. Verkerk, Rachel Schot, et al. · American Journal of Medical Genetics Part A · 8
Absence of nasal bone and detection of trisomy 21
2002 · Helle Hjalgrim, Johanne M Hahnemann, et al. · The Lancet · 7
[Prenatal diagnosis of chromosome aberrations after implementation of screening for Down's syndrome].
2008 · Susanne Kjaergaard, Johanne M D Hahnemann, et al. · PubMed · 6
[Genetic epidemiology and cancer].
2006 · Jørgen H Olsen, Johanne M D Hahnemann, et al. · PubMed · 2
Additional file 1: Tables S1-7. of Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57
2016 · Bak, Mads, Boonen, Susanne, et al. · Figshare
Additional file 2: Table S8. of Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57
2016 · Bak, Mads, Boonen, Susanne, et al. · Figshare
Feasibility study on the use of methylation‐specific MLPA for the 11p15 region on prenatal samples
2015 · Lene Bjerring Gede, Johanne M. D. Hahnemann, et al. · Prenatal Diagnosis
Works count: 36
Citation count: 2,174
H-index: 18
I10-index: 18
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