Geert Mortier

22.9k citations

222 papers · 10.5k · 4 hit papers · h-index 45

Impact in

Genetics top 0.2%
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
Immunology and Allergy top 1%
- Cell Adhesion Molecules Research

Papers in

Genetics 136
- Connective tissue disorders research 70
- Genomic variations and chromosomal abnormalities 28
- Dermatological and Skeletal Disorders 17
- Genomics and Rare Diseases 15
Molecular Biology 85
- Bone Metabolism and Diseases 14

Co-authors: Jan Hellemans (8 shared papers)Frank Speleman (5 shared papers)Jo Vandesompele (6 shared papers)Anne De Paepe (3 shared papers)Michael D. Briggs (12 shared papers)Valérie Cormier‐Daire (16 shared papers)Gen Nishimura (10 shared papers)Andrea Superti‐Furga (9 shared papers)
Journals: The American Journal of Human Genetics (14 papers)Human Mutation (14 papers)European Journal of Human Genetics (12 papers)Calcified Tissue International (8 papers)Orphanet Journal of Rare Diseases (7 papers)
Partner nations: Belgium United States Germany

In The Last Decade

Geert Mortier

215 papers receiving 10.3k citations

Geert Mortier's Hit Papers

align trajectories log scale

Nosology and classification of genetic skeletal disorders: 2019 revision 2019 · 379 citations

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

it has ≥500 total citations;
it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
it reaches the top citation threshold in at least one of its specific research topics.

2019 American Journal of Medical Genetics Part A
2015 American Journal of Medical Genetics Part A
2011 American Journal of Medical Genetics Part A
2007 Genome biology

Peers

Countries citing papers authored by Geert Mortier

Since Specialization

Citations

This map shows the geographic impact of Geert Mortier's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Geert Mortier with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Geert Mortier more than expected).

Fields of papers citing papers by Geert Mortier

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Geert Mortier. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Geert Mortier. The network helps show where Geert Mortier may publish in the future.

Co-authors

The 25 scholars most cited alongside Geert Mortier, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Geert Mortier Line = papers co-authored together Geert Mortier links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 222 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data Genome biology ·Jan Hellemans, Geert Mortier, Anne De Paepe, Frank Speleman, Jo Vandesompele Hit paper breakdown →	2007	3373
2	Nosology and classification of genetic skeletal disorders: 2010 revision American Journal of Medical Genetics Part A ·Matthew L. Warman, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen P. Robertson, Ravi Savarirayan, David Sillence, J Spranger, Sheila Unger, Bernhard Zabel, Andrea Superti‐Furga Hit paper breakdown →	2011	450
3	Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene Nature Genetics ·Michael D. Briggs, Susan M.G. Hoffman, Lily King, A. Olsen, H.W. Mohrenweiser, J. G. Leroy, Geert Mortier, David L. Rimoin, Ralph S. Lachman, E. Gaines, J.A. Cekleniak, Robert G. Knowlton, D.H. Cohn	1995	395
4	Nosology and classification of genetic skeletal disorders: 2019 revision American Journal of Medical Genetics Part A ·Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti‐Furga, Sheila Unger, Matthew L. Warman Hit paper breakdown →	2019	379
5	Nosology and classification of genetic skeletal disorders: 2015 revision American Journal of Medical Genetics Part A ·Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen W. Spranger, Andrea Superti‐Furga, Matthew L. Warman, Sheila Unger Hit paper breakdown →	2015	367
6	Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects Human Mutation ·Ludwine Messiaen, Tom Callens, Geert Mortier, Diane Beysen, Ina Vandenbroucke, Nadine Van Roy, Frank Speleman, Anne De Paepe	2000	350
7	Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia Nature Genetics ·Kathryn Chapman, Geert Mortier, Kay Chapman, John Loughlin, Michael E. Grant, Michael D. Briggs	2001	156
8	Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses The American Journal of Human Genetics ·Wim Wuyts, Wim Van Hul, Kristel De Boulle, Jan Hendrickx, Egbert Bakker, Filip Vanhoenacker, Florindo Mollica, Hermann‐Josef Lüdecke, Bekir Sıtkı Şaylı, Ugo E. Pazzaglia, Geert Mortier, B Hamel, Ernest U. Conrad, Mark Matsushita, W H Raskind, P J Willems	1998	155
9	Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum The American Journal of Human Genetics ·Michael D. Briggs, Geert Mortier, William G. Cole, Lily King, Steven S. Golik, Jacky Bonaventure, Lieve Nuytinck, Anne De Paepe, Jules G. Leroy, Leslie G. Biesecker, Mark Lipson, William R. Wilcox, Ralph S. Lachman, David L. Rimoin, Robert G. Knowlton, Daniel H. Cohn	1998	136
10	Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders European Journal of Human Genetics ·Annick Vogels, Jenneke van den Ende, Kathelijn Keymolen, Geert Mortier, Koenraad Devriendt, Eric Legius, J P Fryns	2003	135
11	Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation The American Journal of Human Genetics ·Peter Krawitz, Yoshiko Murakami, Jochen Hecht, Ulrike Krüger, Susan Holder, Geert Mortier, Barbara Delle Chiaie, Elfride De Baere, Miles D. Thompson, Tony Roscioli, Szymon M. Kiełbasa, Taroh Kinoshita, Stefan Mundlos, Peter N. Robinson, Denise Horn	2012	107
12	Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome The American Journal of Human Genetics ·Valérie Malan, Diana Rajan, Sophie Thomas, Adam Shaw, H. Louis Dit Picard, Valérie Layet, Marianne Till, Arie van Haeringen, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Laurence Legeai‐Mallet, Nigel P. Carter, Michel Vekemans, Arnold Münnich, Raoul C. M. Hennekam, Laurence Colleaux, Valérie Cormier‐Daire	2010	107
13	Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips The American Journal of Human Genetics ·Jan Hellemans, Paul Coucke, A Giedion, Anne De Paepe, Peter Krämer, Frits A. Beemer, Geert Mortier	2003	103
14	Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature American Journal of Medical Genetics ·Geert Mortier, Ralph S. Lachman, Maureen Bocian, David L. Rimoin	1996	82
15	ComprehensiveNF1 screening on cultured Schwann cells from neurofibromas Human Mutation ·Ophélia Maertens, Hilde Brems, Jo Vandesompele, Thomas De Raedt, Ine Heyns, Thorsten Rosenbaum, Sofie De Schepper, Anne De Paepe, Geert Mortier, Sandra Janssens, Frank Speleman, Eric Legius, Ludwine Messiaen	2006	82
16	XYLT1 Mutations in Desbuquois Dysplasia Type 2 The American Journal of Human Genetics ·Catherine Bui, Céline Huber, Beyhan Tüysüz, Yasemin Alanay, Christine Bôle‐Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschké, Arnold Münnich, Valérie Cormier‐Daire	2014	81
17	Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience European Journal of Medical Genetics ·Karen Buysse, Barbara Delle Chiaie, Rudy Van Coster, Bart Loeys, Anne De Paepe, Geert Mortier, Frank Speleman, Björn Menten	2009	81
18	Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution Human Mutation ·Gail C. Jackson, Lauréane Mittaz‐Crettol, Jacqueline Taylor, Geert Mortier, J Spranger, Bernhard Zabel, Martine Le Merrer, Valérie Cormier‐Daire, Christine M Hall, Amaka C Offiah, Michael Wright, Ravi Savarirayan, Gen Nishimura, Simon Ramsden, Rob Elles, Luisa Bonafé, Andrea Superti‐Furga, Sheila Unger, Andreas Zankl, Michael D. Briggs	2011	81
19	TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA Human Mutation ·S. P. Lucia, Alessandra Pangrazio, Cristina Sobacchi, Anna Taranta, Geert Mortier, Ravi Savarirayan, Anna Villa, Paul J. Orchard, Paolo Vezzoni, Alberto Albertini, Annalisa Frattini, (unknown)	2004	80
20	Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1 Journal of Molecular Endocrinology ·Timon Vandamme, Marc Peeters, Fadime Dogan, Patrick Pauwels, Elvire Van Assche, Matthias Beyens, Geert Mortier, Geert Vandeweyer, Wouter W. de Herder, Guy Van Camp, Leo J. Hofland, Ken Op de Beeck	2015	78

About Geert Mortier

Geert Mortier is a scholar working on Genetics, Molecular Biology, Oncology, Pulmonary and Respiratory Medicine and Rheumatology, having authored 222 papers that have together received 10.5k indexed citations. Recurring topics across this work include Connective tissue disorders research (70 papers), Bone health and treatments (32 papers), Genomic variations and chromosomal abnormalities (28 papers), Dermatological and Skeletal Disorders (17 papers), Genomics and Rare Diseases (15 papers), Cell Adhesion Molecules Research (14 papers), Bone Metabolism and Diseases (14 papers) and Neurofibromatosis and Schwannoma Cases (13 papers). The work is most often cited by research in Genetics (4.1k citations), Immunology and Allergy (607 citations), Rheumatology (1.5k citations), Molecular Biology (5.0k citations) and Developmental Biology (129 citations). Geert Mortier has collaborated with scholars based in Belgium, United States and Germany. Frequent co-authors include Jan Hellemans, Frank Speleman, Jo Vandesompele, Anne De Paepe, Michael D. Briggs, Valérie Cormier‐Daire, Gen Nishimura, Andrea Superti‐Furga, Ravi Savarirayan and David L. Rimoin. Their work appears in journals such as The American Journal of Human Genetics, Human Mutation, European Journal of Human Genetics, Calcified Tissue International and Orphanet Journal of Rare Diseases.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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In The Last Decade

Geert Mortier

Geert Mortier's Hit Papers

Peers

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Fields of papers citing papers by Geert Mortier

All Works

About Geert Mortier

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