Patrick Callier

5.6k citations

67 papers · 1.3k indexed · h-index 20

Impact in

Genetics top 5%
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
Linguistics and Language top 5%
- Linguistic Variation and Morphology

Papers in ⓘ

Linguistics and Language 7
- Linguistic Variation and Morphology 6
Health Informatics 2

Co-authors: Robert J. Podesva (3 shared papers)Laurence Faivre (35 shared papers)Frédéric Huet (24 shared papers)Alice Masurel‐Paulet (14 shared papers)Francine Mugneret (23 shared papers)Nathalie Marle (19 shared papers)Julien Thévenon (11 shared papers)Alice Goldenberg (3 shared papers)
Journals: European Journal of Medical Genetics (6 papers)European Journal of Human Genetics (3 papers)Clinical Genetics (3 papers)American Journal of Medical Genetics Part A (19 papers)Diabetes & Metabolism (2 papers)
Partner nations: France United States South Korea

In The Last Decade

Patrick Callier

64 papers receiving 1.3k citations

Peers

Countries citing papers authored by Patrick Callier

Since Specialization

Citations

This map shows the geographic impact of Patrick Callier'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 Patrick Callier with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Patrick Callier more than expected).

Fields of papers citing papers by Patrick Callier

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Patrick Callier. 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 Patrick Callier. The network helps show where Patrick Callier may publish in the future.

Co-authors

The 25 scholars most cited alongside Patrick Callier, 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 Patrick Callier Line = papers co-authored together Patrick Callier 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 67 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans Nature Genetics ·Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Valérie Drouin, Sandra Cariou, Arie van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Münnich, Joana A. Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion‐Caude, Andrea Ventura, Jeanne Amiel	2011	226
2	Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test Clinical Genetics ·Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet, Mathilde Lefebvre, François Feillet, Salima El Chehadeh-Djebbar, Judith St‐Onge, A. Steinmetz, Frédéric Huet, Mondher Chouchane, Véronique Darmency‐Stamboul, Patrick Callier, Christel Thauvin‐Robinet, Laurence Faivre, Jean‐Baptiste Rivière	2016	138
3	The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy Journal of Medical Genetics ·Jean‐Benoît Courcet, Laurence Faivre, Perrine Malzac, Alice Masurel‐Paulet, Estelle Lopez, Patrick Callier, Laëtitia Lambert, M. Lemesle, Julien Thévenon, Nadège Gigot, Laurence Duplomb, Clémence Ragon, Nathalie Marle, Anne‐Laure Mosca‐Boidron, Frédéric Huet, Christophe Philippe, Anne Moncla, Christel Thauvin‐Robinet	2012	80
4	Constraints on the social meaning of released /t/: A production and perception study of U.S. politicians Language Variation and Change ·Robert J. Podesva, Jermay J. Reynolds, Patrick Callier, Jessica Baptiste	2015	54
5	What is epidemiology? Changing definitions of epidemiology 1978-2017 PLoS ONE ·M. Frérot, A. Lefèbvre, Simon Aho, Patrick Callier, Karine Astruc, Serge Aho	2018	51
6	Voice Quality and Identity Annual Review of Applied Linguistics ·Robert J. Podesva, Patrick Callier	2015	47
7	New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects Human Mutation ·Julie Demars, Sylvie Rossignol, Irène Netchine, Kai Syin Lee, Mansur E Shmela, Laurence Faivre, Jacques Weill, Sylvie Odent, Salah Azzi, Patrick Callier, Josette Lucas, Christèle Dubourg, Joris Andrieux, Yves Le Bouc, Assam El‐Osta, Christine Gicquel	2011	45
8	Cloacal exstrophy in an infant with 9q34.1‐qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq American Journal of Medical Genetics Part A ·Christel Thauvin‐Robinet, Laurence Faivre, Véronica Cusin, Philippe Khau Van Kien, Patrick Callier, Keith L. Parker, Marc Fellous, Joséphine Borgnon, E Gounot, Frédéric Huet, Emmanuel Sapin, Francine Mugneret	2003	43
9	17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome European Journal of Medical Genetics ·Salima El Chehadeh-Djebbar, Patrick Callier, Alice Masurel‐Paulet, Candace Bensignor, N. Méjean, Muriel Payet, Clémence Ragon, Christine Durand, Nathalie Marle, Anne‐Laure Mosca‐Boidron, Frédéric Huet, Francine Mugneret, Laurence Faivre, Christel Thauvin-Robinet	2011	40
10	Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing European Journal of Human Genetics ·Ange‐Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thévenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean‐Marçais, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Martin Chevarin, Thibaud Jouan, Charlotte Pöe, Patrick Callier, Emilie Tisserand, Christophe Philippe, Frédéric Tran Mau‐Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin‐Robinet	2019	39
11	Semiquantitative reverse transcription-polymerase chain reaction to evaluate the expression patterns of genes involved in the oestrogen pathway Journal of Molecular Endocrinology ·JM Rey, Pascal Pujol, Patrick Callier, Vincent Cavaillès, Gilles Freiss, Thierry Maudelondé, JP Brouillet	2000	32
12	Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome American Journal of Medical Genetics Part A ·Patrick Callier, Laurence Faivre, Véronica Cusin, Nathalie Marle, Christel Thauvin-Robinet, Dominique Sandre, Thierry Rousseau, Paul Sagot, Éric Lacombe, V. Faber, Francine Mugneret	2005	26
13	Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis Clinical Genetics ·Mathilde Lefebvre, Yannis Duffourd, T. Jouan, Charlotte Pöe, Nolwenn Jean‐Marçais, Alain Verloès, Judith St‐Onge, Julie Rivière, Florence Petit, Geneviève Pierquin, Bénédicte Demeer, Patrick Callier, Christel Thauvin-Robinet, Laurence Faivre, Julien Thévenon	2016	26
14	Congenital Heart Defects in Patients with Deletions Upstream ofSOX9 Human Mutation ·Marta Sánchez-Castro, Christopher T. Gordon, Florence Petit, Alex S. Nord, Patrick Callier, Joris Andrieux, Patrice Guérin, Olivier Pichon, Albert David, Véronique Abadie, Damien Bonnet, Axel Visel, L Pennacchio, Jeanne Amiel, Stanislas Lyonnet, Cédric Le Caignec	2013	25
15	Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene American Journal of Medical Genetics Part A ·Magali Avila, Maria Kirchhoff, Nathalie Marle, Hanna D. Hove, Mondher Chouchane, Christel Thauvin‐Robinet, Alice Masurel, Anne‐Laure Mosca‐Boidron, Patrick Callier, Francine Mugneret, Susanne Kjærgaard, Laurence Faivre	2013	24
16	Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia European Journal of Human Genetics ·Marie Cognet, Agnés Nougayrede, Valérie Malan, Patrick Callier, Célia Cretolle, Laurence Faivre, David Geneviève, Alice Goldenberg, Delphine Héron, Sandra Mercier, Nicole Philip, Sabine Sigaudy, Alain Verloès, Sabine Sarnacki, Arnold Münnich, Michel Vekemans, Stanislas Lyonnet, Heather Etchevers, Jeanne Amiel, Loïc de Pontual	2011	23
17	Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis European Journal of Human Genetics ·Salima El Chehadeh-Djebbar, Edward Blair, Muriel Holder‐Espinasse, Anne Moncla, Anne-Marie Frances, Marlène Rio, François‐Guillaume Debray, Patrick Rump, Alice Masurel‐Paulet, Nadège Gigot, Patrick Callier, Laurence Duplomb, Bernard Aral, Frédéric Huet, Christel Thauvin‐Robinet, Laurence Faivre	2012	22
18	Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array‐CGH American Journal of Medical Genetics Part A ·Alice Masurel‐Paulet, Patrick Callier, Christel Thauvin‐Robinet, Mondher Chouchane, N. Méjean, Nathalie Marle, Anne‐Laure Mosca, D. Ben Salem, M Giroud, Laurent Guibaud, Frédéric Huet, Francine Mugneret, Laurence Faivre	2009	20
19	Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome American Journal of Medical Genetics Part A ·Patrick Callier, Laurence Faivre, Christel Thauvin‐Robinet, Nathalie Marle, A.L. Mosca, P. D'Athis, Julien Guy, Alice Masurel‐Paulet, Louise Joly, Simon Guiraud, J. Teyssier, Frédéric Huet, Francine Mugneret	2008	20
20	Dysregulation of FOXG1 pathway in a 14q12 microdeletion case American Journal of Medical Genetics Part A ·Olivier Perche, Georges Haddad, Arnaud Menuet, Patrick Callier, Mélanie Marcos, Sylvain Briault, Béatrice Laudier	2013	19

About Patrick Callier

Patrick Callier is a scholar working on Linguistics and Language, Health Informatics, Genetics, Developmental Biology and Pediatrics, Perinatology and Child Health, having authored 67 papers that have together received 1.3k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (22 papers), Congenital heart defects research (9 papers), Prenatal Screening and Diagnostics (9 papers), Genetics and Neurodevelopmental Disorders (8 papers), Genetic Syndromes and Imprinting (7 papers), Genomics and Rare Diseases (7 papers), Linguistic Variation and Morphology (6 papers) and Phonetics and Phonology Research (5 papers). The work is most often cited by research in Genetics (633 citations), Linguistics and Language (92 citations), Cancer Research (192 citations), Pediatrics, Perinatology and Child Health (163 citations) and Molecular Biology (568 citations). Patrick Callier has collaborated with scholars based in France, United States and South Korea. Frequent co-authors include Robert J. Podesva, Laurence Faivre, Frédéric Huet, Alice Masurel‐Paulet, Francine Mugneret, Nathalie Marle, Julien Thévenon, Alice Goldenberg, Jeanne Amiel and Stanislas Lyonnet. Their work appears in journals such as European Journal of Medical Genetics, European Journal of Human Genetics, Clinical Genetics, American Journal of Medical Genetics Part A and Diabetes & Metabolism.

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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