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M. Petersen · SciRah

Researcher profile · Semantic Scholar

M. Petersen

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M. Petersen — researcher profile on SciRah

h-index: 36
Works: 157
Citations: 4,223

Most-cited papers

HDAC8 mutations in Cornelia de Lange Syndrome affect the cohesin acetylation cycle
M. Deardorff, Masashige Bando, Ryuichiro Nakato, E. Watrin +38 more
2012Nature588 citations Open access
Semantic Scholar
Prevalence and patient characteristics of Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide registry-based study.
M. Herlin, A. Bjørn, M. Rasmussen, B. Trolle +1 more
2016Human Reproduction162 citations Open access
Semantic Scholar
Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature
M. Herlin, A. Højland, M. Petersen
2014American Journal of Medical Genetics. Part A93 citations
Semantic Scholar
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
F. Malfait, S. Symoens, N. Goemans, Y. Gyftodimou +6 more
2013Orphanet Journal of Rare Diseases87 citations Open access
Semantic Scholar
The spectrum of intermediate SCN8A‐related epilepsy
Kathrine M. Johannesen, E. Gardella, A. Encinas, A. Lehesjoki +41 more
2019Epilepsia83 citations Open access
Semantic Scholar
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
A. Sırmacı, S. Erbek, Justin Price, Mingqian Huang +21 more
2010American Journal of Human Genetics66 citations Open access
Semantic Scholar
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1
M. Thys, K. van den Bogaert, V. Iliadou, K. Vanderstraeten +10 more
2007European Journal of Human Genetics65 citations
Semantic Scholar
Oxidative stress in dry age-related macular degeneration and exfoliation syndrome
Dimitrios Chiras, G. Kitsos, M. Petersen, Iosif Skalidakis +1 more
2015Critical reviews in clinical laboratory sciences57 citations
Semantic Scholar
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
N. Hilgert, M. Huentelman, Ashley Q. Thorburn, E. Fransen +53 more
2008European Journal of Human Genetics57 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
Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy
Nurit Assia Batzir, Pranjali Kishor Bhagwat, A. Larson, Zeynep Coban Akdemir +32 more
2019Human Mutation47 citations Open access
Semantic Scholar
Non-disjunction of chromosome 13.
M. Bugge, A. Collins, J. Hertz, H. Eiberg +13 more
2007Human Molecular Genetics47 citations
Semantic Scholar
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.
M. Herlin, V. Le, A. Højland, Anja Ernst +4 more
2019Human Reproduction45 citations Open access
Semantic Scholar
Age-related macular degeneration: genetic and clinical findings
H. Kokotas, M. Grigoriadou, M. Petersen
2011Clinical Chemistry and Laboratory Medicine44 citations
Semantic Scholar
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing
Silvia Naranjo, K. Voesenek, Elisa De la Calle-Mustienes, A. Robert-Moreno +10 more
2010Human Genetics43 citations Open access
Semantic Scholar
Treatment of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome in Denmark: a nationwide comparative study of anatomical outcome and complications.
M. Herlin, Anne-Mette Bay Bjørn, Laura Krogh Jørgensen, B. Trolle +1 more
2018Fertility and Sterility40 citations Open access
Semantic Scholar
Biomarkers in primary open angle glaucoma
H. Kokotas, C. Kroupis, Dimitrios Chiras, M. Grigoriadou +3 more
2012Clinical Chemistry and Laboratory Medicine40 citations Open access
Semantic Scholar
Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
V. Chelban, S. Wiethoff, B. Fabian-Jessing, Nourelhoda A. Haridy +15 more
2018Movement Disorders36 citations Open access
Semantic Scholar
Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature
T. Bjørsum‐Meyer, M. Herlin, N. Qvist, M. Petersen
2016Journal of Medical Case Reports35 citations Open access
Semantic Scholar
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
Veronica Parri, E. Katzaki, V. Uliana, F. Scionti +23 more
2010European Journal of Human Genetics32 citations Open access
Semantic Scholar
The use of array-CGH in a cohort of Greek children with developmental delay
E. Manolakos, A. Vetro, Konstantinos Kefalas, S. Rapti +11 more
2010Molecular Cytogenetics31 citations Open access
Semantic Scholar
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21
Maria Chiara Pelleri, Elena Cicchini, M. Petersen, L. Tranebjærg +10 more
2019Molecular Genetics & Genomic Medicine29 citations Open access
Semantic Scholar
A report of pure 7p duplication syndrome and review of the literature
E. Papadopoulou, S. Sifakis, Catherine Sarri, Jolanda Gyftodimou +4 more
2006American Journal of Medical Genetics. Part A29 citations
Semantic Scholar
Recommendations for Genetic Variation Data Capture in Developing Countries to Ensure a Comprehensive Worldwide Data Collection
G. Patrinos, Jumana Y. Alaama, A. al Aqeel, F. Al-Mulla +10 more
2010Human Mutation28 citations Open access
Semantic Scholar
A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21
I. Lorda-Sánchez, M. Petersen, F. Binkert, Marco Maechler +4 more
2005Human Genetics27 citations Open access
Semantic Scholar
Unexpected results in the constitution of small supernumerary marker chromosomes.
A. Vetro, E. Manolakos, M. Petersen, L. Thomaidis +10 more
2012European Journal of Medical Genetics26 citations Open access
Semantic Scholar
Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population
Dimitrios Chiras, Konstantina Tzika, H. Kokotas, S. C. Oliveira +8 more
2013Molecular Vision25 citations
Semantic Scholar
A novel PIKFYVE mutation in fleck corneal dystrophy
Andreas Kotoulas, H. Kokotas, K. Kopsidas, K. Droutsas +4 more
2011Molecular Vision24 citations
Semantic Scholar
The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss.
H. Kokotas, M. Grigoriadou, G. Korres, E. Ferekidou +6 more
2009Biochemical and Biophysical Research Communications - BBRC21 citations
Semantic Scholar
Investigating the Impact of the Down Syndrome Related Common MTHFR 677C>T Polymorphism in the Danish Population
H. Kokotas, M. Grigoriadou, M. Mikkelsen, A. giannoulia-Karantana +1 more
2010Disease Markers20 citations Open access
Semantic Scholar
Genetic skeletal disorders of the fetus and infant: pathologic and molecular findings in a series of 41 cases.
A. Konstantinidou, G. Agrogiannis, S. Sifakis, A. Karantanas +10 more
2009Birth defects research. Clinical and molecular teratology20 citations
Semantic Scholar
A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin
M. Bucksch, M. Ziegler, Nadezda Kosayakova, M. Mulatinho +11 more
2012Journal of Histochemistry and Cytochemistry19 citations Open access
Semantic Scholar
Audiological and Vestibular Findings in Subjects with MELAS Syndrome.
D. Hougaard, Danjal Hofgaard Hestoy, A. Højland, M. Gaihede +1 more
2019The journal of international advanced otology18 citations Open access
Semantic Scholar
First reported adult patient with TARP syndrome: A case report
A. Højland, I. Lolas, H. Okkels, C. Lautrup +3 more
2018American Journal of Medical Genetics. Part A17 citations Open access
Semantic Scholar
Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village
M. Wirtz, A. Konstas, J. Samples, K. Kaltsos +4 more
2008Molecular Vision15 citations
Semantic Scholar
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.
H. Karstensen, N. D. Rendtorff, Lone Sandbjerg Hindbæk, R. Colombo +7 more
2020European Journal of Medical Genetics14 citations
Semantic Scholar
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
M. Zollino, R. Lecce, M. Murdolo, Daniela Orteschi +19 more
2007Human Genetics14 citations
Semantic Scholar
Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds
A. Hewitt, J. Samples, R. Allingham, I. Järvelä +9 more
2007Molecular Vision14 citations
Semantic Scholar
A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.
Elisavet Siomou, E. Manolakos, M. Petersen, L. Thomaidis +3 more
2012European Journal of Medical Genetics13 citations
Semantic Scholar
Hypothesizing an Ancient Greek Origin of the GJB2 35delG Mutation: Can Science Meet History?
H. Kokotas, M. Grigoriadou, M. Villamar, A. giannoulia-Karantana +2 more
2010Genetic Testing and Molecular Biomarkers12 citations
Semantic Scholar
Sudden hearing loss in a family with GJB2 related progressive deafness.
H. Kokotas, M. Theodosiou, G. Korres, M. Grigoriadou +4 more
2008International Journal of Pediatric Otorhinolaryngology12 citations
Semantic Scholar
Investigation of associations of ARMS2, CD14, and TLR4 gene polymorphisms with wet age-related macular degeneration in a Greek population
Antonia Sarli, Iosif Skalidakis, A. Velissari, C. Koutsandrea +5 more
2017Clinical Ophthalmology11 citations Open access
Semantic Scholar
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)
E. Manolakos, S. Orrù, R. Neroutsou, Konstantinos Kefalas +9 more
2009Molecular Cytogenetics11 citations Open access
Semantic Scholar
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.
V. Iliadou, K. van den Bogaert, N. Eleftheriades, G. Aperis +9 more
2006International Journal of Pediatric Otorhinolaryngology11 citations
Semantic Scholar
Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases
M. Bugge, C. DeLozier-Blanchet, M. Bak, C. A. Brandt +4 more
2005American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene
Ninna Brix, J. M. Jensen, I. S. Pedersen, Anja Ernst +4 more
2019Neonatology10 citations
Semantic Scholar
Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.
H. Kokotas, M. Grigoriadou, Li Yang, M. Lodahl +9 more
2011International Journal of Pediatric Otorhinolaryngology10 citations
Semantic Scholar
Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?
H. Kokotas, M. Grigoriadou, G. Korres, E. Ferekidou +4 more
2010Journal of Human Genetics10 citations
Semantic Scholar
Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness.
M. Petersen, M. Grigoriadou, J. Economides, H. Kokotas
2012International Journal of Pediatric Otorhinolaryngology9 citations
Semantic Scholar
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
A. Højland, L. Tavernier, I. Schrauwen, M. Sommen +10 more
2021Human Genetics8 citations Open access
Semantic Scholar

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