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A. Maugeri · SciRah

Researcher profile · Semantic Scholar

A. Maugeri

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A. Maugeri — researcher profile on SciRah

h-index: 28
Works: 68
Citations: 3,346

Most-cited papers

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
A. Maugeri, B. Klevering, K. Rohrschneider, A. Blankenagel +4 more
2000American Journal of Human Genetics340 citations Open access
Semantic Scholar
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
A. Maugeri, M. V. van Driel, D. J. van de Pol, B. Klevering +11 more
1999American Journal of Human Genetics275 citations Open access
Semantic Scholar
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
K. Jaakson, J. Zernant, M. Külm, A. Hutchinson +15 more
2003Human Mutation256 citations
Semantic Scholar
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
R. Roepman, Nathalie Bernoud-Hubac, Diana Schick, A. Maugeri +4 more
2000Human Molecular Genetics216 citations Open access
Semantic Scholar
Osteogenesis Imperfecta: A Review with Clinical Examples
F. V. van Dijk, J. Cobben, A. Kariminejad, A. Maugeri +3 more
2011Molecular Syndromology215 citations Open access
Semantic Scholar
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene
B. Klevering, A. Deutman, A. Maugeri, F. Cremers +1 more
2005Graefe's Archive for Clinical and Experimental Ophthalmology136 citations
Semantic Scholar
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
F. V. van Dijk, P. Byers, R. Dalgleish, F. Malfait +5 more
2011European Journal of Human Genetics135 citations Open access
Semantic Scholar
ABCR unites what ophthalmologists divide(s)
M. V. van Driel, A. Maugeri, B. Klevering, C. Hoyng +1 more
1998Ophthalmic Genetics133 citations
Semantic Scholar
PLS3 mutations in X-linked osteoporosis with fractures.
F. V. van Dijk, M. Zillikens, D. Micha, M. Riessland +29 more
2013New England Journal of Medicine118 citations Open access
Semantic Scholar
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa
B. Klevering, Suzanne Yzer, K. Rohrschneider, Marijke N. Zonneveld +5 more
2004European Journal of Human Genetics117 citations Open access
Semantic Scholar
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.
A. Maugeri, F. Meire, C. Hoyng, Carolien Vink +5 more
2004Investigative Ophthalmology and Visual Science99 citations
Semantic Scholar
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections
D. Micha, Dong-Chuan Guo, Y. Hilhorst-Hofstee, F. van Kooten +14 more
2015Human Mutation98 citations Open access
Semantic Scholar
PLS3 mutations in X-linked osteoporosis with fractures
M. Zillikens, D. F. S. van, D. Micha, M. Riessland +32 more
201495 citations
Semantic Scholar
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
A. Mukhopadhyay, K. Nikopoulos, A. Maugeri, A. D. de Brouwer +11 more
2006Investigative Ophthalmology and Visual Science82 citations Open access
Semantic Scholar
Collagen transport and related pathways in Osteogenesis Imperfecta
Lauria Claeys, S. Storoni, M. Eekhoff, M. Elting +5 more
2021Human Genetics77 citations Open access
Semantic Scholar
Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders
E. Overwater, L. Marsili, M. Baars, A. Baas +17 more
2018Human Mutation72 citations Open access
Semantic Scholar
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.
B. Klevering, A. Blankenagel, A. Maugeri, F. Cremers +2 more
2002Investigative Ophthalmology and Visual Science71 citations
Semantic Scholar
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
R. Lemmens, A. Maugeri, H. Niessen, A. Goris +7 more
2013Human Molecular Genetics60 citations Open access
Semantic Scholar
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
F. V. van Dijk, O. Semler, J. Etich, Anna Köhler +34 more
2020American Journal of Human Genetics55 citations Open access
Semantic Scholar
Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
B. Klevering, A. Maugeri, A. Wagner, S. L. Go +3 more
2004Ophthalmology (Rochester, Minn.)55 citations
Semantic Scholar
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
A. Maugeri, K. Flothmann, Nadine Hemmrich, S. Ingvast +24 more
2002European Journal of Human Genetics54 citations
Semantic Scholar
Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1
G. Monroe, M. Harakalova, S. N. van der Crabben, D. Majoor-Krakauer +11 more
2015American Journal of Medical Genetics. Part A53 citations Open access
Semantic Scholar
Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients
S. Demirdas, E. Dulfer, L. Robert, M. Kempers +8 more
2017Clinical Genetics52 citations Open access
Semantic Scholar
Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome
Romy Franken, A. D. den Hartog, T. Radonic, D. Micha +11 more
2015Circulation: Cardiovascular Genetics51 citations Open access
Semantic Scholar
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm
K. M. van de Luijtgaarden, Daphne Heijsman, A. Maugeri, M. Weiss +4 more
2015Human Genetics38 citations Open access
Semantic Scholar
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Mari Minatogawa, Ai Unzaki, H. Morisaki, D. Syx +36 more
2021Journal of Medical Genetics37 citations Open access
Semantic Scholar
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype
E. Cannaerts, M. Kempers, A. Maugeri, C. Marcelis +15 more
2018Journal of Medical Genetics35 citations Open access
Semantic Scholar
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.
S. L. Go, A. Maugeri, J. Mulder, M. V. van Driel +2 more
2003Investigative Ophthalmology and Visual Science35 citations Open access
Semantic Scholar
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
S. Demirdas, Lisa M. van den Bersselaar, Rosan Lechner, Jessica Bos +22 more
2024Circulation Genomic and Precision Medicine26 citations Open access
Semantic Scholar
The expanding roles of ABCA4 and CRB1 in inherited blindness.
F. Cremers, A. Maugeri, A. D. den Hollander, C. Hoyng
2004Novartis Foundation symposium23 citations
Semantic Scholar
Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study
S. Storoni, S. Treurniet, A. Maugeri, G. Pals +6 more
2022Frontiers in Endocrinology22 citations Open access
Semantic Scholar
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
E. Overwater, K. Floor, D. V. van Beek, K. D. de Boer +18 more
2017European Journal of Medical Genetics22 citations Open access
Semantic Scholar
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient
L. Marsili, E. Overwater, N. Hanna, G. Baujat +21 more
2020Clinical Genetics21 citations Open access
Semantic Scholar
Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome
S. Micheal, M. A. Khan, Farah Akhtar, M. Weiss +5 more
2012Molecular Vision21 citations
Semantic Scholar
Clinical utility gene card for: osteogenesis imperfecta
F. V. van Dijk, R. Dalgleish, F. Malfait, A. Maugeri +4 more
2012European Journal of Human Genetics21 citations Open access
Semantic Scholar
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
F. Cayami, A. Maugeri, S. Treurniet, E. D. Setijowati +5 more
2019Molecular Genetics & Genomic Medicine19 citations Open access
Semantic Scholar
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
E. V. van Walree, G. Dombrowsky, I. Jansen, M. U. Mirkov +22 more
2020Genetics in Medicine14 citations Open access
Semantic Scholar
Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1
J. Burger, N. Bogunovic, Nathalie P. de Wagenaar, Hui Liu +10 more
2021Human Molecular Genetics12 citations Open access
Semantic Scholar
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.
F. V. van Dijk, G. Mancini, A. Maugeri, J. Cobben
2017European Journal of Medical Genetics11 citations
Semantic Scholar
Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study
Lisa M. van den Bersselaar, I. M. van de Laar, M. Baars, Annette F. Baas +10 more
2025BJOG: an International Journal of Obstetrics and Gynaecology9 citations Open access
Semantic Scholar
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
E. Overwater, Rifka Efrat, D. Barge-Schaapveld, Phillis Lakeman +4 more
2018Molecular Genetics & Genomic Medicine9 citations Open access
Semantic Scholar
Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center
E. M. Eekhoff, D. Micha, T. Forouzanfar, T. D. de Vries +49 more
2020Frontiers in Endocrinology7 citations Open access
Semantic Scholar
[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].
F. Cremers, A. Maugeri, B. Klevering, L. Hoefsloot +1 more
2002Nederlandsch tijdschrift voor geneeskunde7 citations
Semantic Scholar
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.
S. Storoni, L. Celli, L. Zhytnik, K. Maasalu +9 more
2023European Journal of Medical Genetics6 citations Open access
Semantic Scholar
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Lisa M. van den Bersselaar, J. Verhagen, J. Bekkers, M. Kempers +15 more
2022Genetics in Medicine6 citations Open access
Semantic Scholar
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant
L. Zhytnik, B. H. Duy, M. Eekhoff, L. Wisse +7 more
2022Genes6 citations Open access
Semantic Scholar
Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation
E. Wypasek, D. Potaczek, Marcin Hydzik, R. Stąpor +4 more
2017Clinical Chemistry and Laboratory Medicine5 citations Open access
Semantic Scholar
[Osteogenesis imperfecta: clinical and genetic heterogeneity].
F. V. van Dijk, J. Cobben, A. Maugeri, P. Nikkels +2 more
2012Nederlandsch tijdschrift voor geneeskunde4 citations
Semantic Scholar
Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1
S. J. Verdonk, S. Storoni, L. Zhytnik, Wenjie Zhong +6 more
2023Calcified Tissue International3 citations Open access
Semantic Scholar
Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1
E. Overwater, K. Van Rossum, M. Baars, A. Maugeri +1 more
2019Netherlands Heart Journal3 citations Open access
Semantic Scholar

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