Mathilde Nizon

3.9k citations

26 papers · 387 indexed · h-index 13

Impact in

Clinical Biochemistry top 5%
- Metabolism and Genetic Disorders
Genetics
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases

Papers in

Genetics 14
- Genomic variations and chromosomal abnormalities 8
- Genetics and Neurodevelopmental Disorders 7
- Genomics and Rare Diseases 6
Developmental Biology 1

Co-authors: Jean‐Paul Bonnefont Florence Habarou Chris Ottolenghi Bertrand Isidor Valérie Malan Nathalie Boddaert Pierre Boisseau Marie Vincent
Journals: European Journal of Human Genetics (3 papers)Orphanet Journal of Rare Diseases (2 papers)European Journal of Medical Genetics (2 papers)Journal of Medical Genetics (2 papers)Clinical Genetics (2 papers)
Partner nations: France United States Germany

In The Last Decade

Mathilde Nizon

25 papers receiving 371 citations

Peers

Countries citing papers authored by Mathilde Nizon

Since Specialization

Citations

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

Fields of papers citing papers by Mathilde Nizon

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network

The 25 scholars most cited alongside Mathilde Nizon, 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 Mathilde Nizon Line = papers co-authored together Mathilde Nizon links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique American Journal of Kidney Diseases ·Francisco Suárez Faríaz, H. Ramakrishna H Hulugappa, Vincent Morinière, Laurence Heidet, Bertrand Knebelmann, Olivier Gribouval, Christian Quintart, Stéphane Burtey, Vincent Vuiblet, Enferadi, Francisco Saitua D, Olivier Moranne, Mathilde Nizon, Feng Jing, Patrick Nitschké, Corinne Antignac, Guillaume Dorval	2025	0
2	Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype Prenatal Diagnosis ·Jackie Shibata, Madeleine Joubert, Claudine Le Vaillant, Katsuhiko KASHIBA, Pierre‐Emmanuel Séguéla, Ange‐Line Bruel, Benjamin Cogné, Mathilde Nizon	2024	1
3	Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome Journal of Medical Genetics ·Е В Сократова, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Julien Buratti, Benjamin Cogné, Diane Doummar, Rustamova Z. Sh., И. М. Назаркина, Éric Leguern, Gaëtan Lesca, Caroline Nava, Mathilde Nizon, Amélie Piton, Stéphanie Valence, Laurent Villard, Sarah Weckhuysen, Boris Keren, Cyril Mignot	2021	8
4	Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder Human Mutation ·Katsuhiko KASHIBA, Thomas Besnard, Mathilde Nizon, Shugo Sakaguchi, MW van Eekelen, Shuanglin Luo, Christel Thauvin‐Robinet, Ange‐Line Bruel, Paul Kuentz, Christine Coubes, Laurence Cuisset, Cyril Mignot, Boris Keren, Stéphane Bezieau, Benjamin Cogné	2021	2
5	First French study relative to preconception genetic testing: 1500 general population participants’ opinion Orphanet Journal of Rare Diseases ·Júlia Katona, Mathilde Nizon, Xénia Latypova, Aurélie Gaultier, G. T. SIMPKIN, Stéphane Bezieau, FLORENCE JOSEPHINE SEAMAN, Mauro Turrini, Naumovich Ss, Bertrand Isidor	2021	6
6	Clinical delineation of SETBP1 haploinsufficiency disorder European Journal of Human Genetics ·Eviatar Naaman, Ruth Braden, Siddharth Srivastava, Shamas Munir, Gaëtan Lesca, Massimiliano Rossi, Mathilde Nizon, Raphael Bernier, Chloé Quēlin, Arie van Haeringen, Tjitske Kleefstra, Runnan Chen, Sandra Whalen, Simon E. Fisher, Angela Morgan, Bregje W.M. van Bon	2021	17
7	Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation Nature Communications ·Глушак Александр Яковлевич, Bilal N. Sheikh, M. Felicia Basilicata, Marie Vincent, Mathilde Nizon, Cindy Colson, Matthew Bird, James E. Bradner, فرزانه عباسي, Michael Boutros, Asifa Akhtar	2020	20
8	Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients Journal of Clinical Immunology ·Francesco Saettini, Richard Herriot, Ione Maria de Matos, Mathilde Nizon, Daniele Zama, Antonio Marzollo, Sarah Febrianti Sirait, Vassilios Lougaris, J. Krochmann, Abel Losada Álvarez, Rika Kosaki, Fabio Cardinale, Silvia Ricci, Laura Agraz, Davide Montin, Jemmy C. Najoan, Donatella Milani, Andrea Biondi, Cristina Gervasini, Raffaele Badolato	2020	18
9	New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome European Journal of Human Genetics ·Mathilde Pacault, Marie Vincent, Thomas Besnard, Caroline Kannengiesser, Claire Bénéteau, S. Barbarot, Xénia Latypova, 정긍식, Antonin Lamazière, Norbert Winer, Madeleine Joubert, Stéphane Bezieau, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Stéphanie Leclerc‐Mercier, S. Hadj‐Rabia, Fabienne Dufernez	2018	5
10	A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability European Journal of Medical Genetics ·Mathilde Pacault, Mathilde Nizon, Olivier Pichon, Marie Vincent, Cédric Le Caignec, Bertrand Isidor	2018	11
11	Familial autosomal dominant severe ankyloglossia with tooth abnormalities American Journal of Medical Genetics Part A ·S.M. Wang, Roman Hossein Khonsari, Pierre Corre, Adriana Ghidelli, Cécile Boscher, Mathilde Nizon, Olivier Pichon, Albert David, Cédric Le Caignec, Hélios Bertin, Bertrand Isidor	2018	6
12	A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant Journal of Obstetrics and Gynaecology ·Chloé Arthuis, Mathilde Nizon, Martin Kömhoff, Bodo B. Beck, Vera Riehmer, Tiphaine Bihouée, Alexandra Bruel, 和男丹治, Norbert Winer, Bertrand Isidor	2018	6
13	Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy European Journal of Human Genetics ·Mathilde Nizon, Liu Qi-hua, Jean‐Michel Vallat, Madeleine Joubert, Jean‐Michel Liet, Laure Simon, Marie Vincent, Sébastien Küry, Pierre Boisseau, Sébastien Schmitt, Sandra Mercier, Claire Bénéteau, Léa Jeanne Ilboudo, Kaoru OHE, Xénia Latypova, Yann Péréon, Jean‐Marie Mussini, Stéphane Bezieau, Bertrand Isidor	2016	17
14	RPL10 mutation segregating in a family with X‐linked syndromic Intellectual Disability American Journal of Medical Genetics Part A ·Julien Thévenon, Caroline Michot, Christine Bole, Patrick Nitschké, Mathilde Nizon, Laurence Faivre, Arnold Münnich, Stanislas Lyonnet, Jean‐Paul Bonnefont, Vincent des Portes, Jeanne Amiel	2015	22
15	Clinical and neuroradiological features of the 9p deletion syndrome Child s Nervous System ·Peter Spazzapan, Éric Arnaud, Geneviève Baujat, Mathilde Nizon, Valérie Malan, Françis Brunelle, Federico Di Rocco	2015	31
16	Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency Mitochondrion ·Mathilde Nizon, Audrey Boutron, Nathalie Boddaert, Abdelhamid Slama, Євгеній КОРОТЕНКО, Flavia Vanesca Félix Leão Netto, Anaïs Brassier, Florence Habarou, Bitan Naik, Isabelle Correia, Chris Ottolenghi, Pascale de Lonlay	2014	32
17	Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias Orphanet Journal of Rare Diseases ·Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Jean‐Baptiste Arnoux, Valérie Barbier, Florence Habarou, Isabelle Desguerre, Nathalie Boddaert, Jean‐Paul Bonnefont, Cécile Acquaviva, Jean‐François Benoist, Daniel Rabier, Guy Touati, Pascale de Lonlay	2013	62
18	Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid European Journal of Medical Genetics ·M. Essaoui, Mathilde Nizon, Zhengjie Han, V Adithya, Julia Tantau, Renova Manullang, Shiro Matsunasi, Caroline Michot, Jeanne Amiel, J. P. Bernard, Tania Attié‐Bitach, Michel Vekemans, C Turleau, Y. Ville, Valérie Malan	2013	12
19	IMPAD1 mutations in two Catel‐Manzke like patients American Journal of Medical Genetics Part A ·Mathilde Nizon, Yasemin Alanay, Beyhan Tüysüz, Pelin Özlem Şimşek‐Kiper, David Geneviève, David Sillence, Céline Huber, Arnold Münnich, Valérie Cormier‐Daire	2012	21
20	Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH Clinical Genetics ·Marlène Rio, Imran Ali Syed, Stéphanie Gobin, Vahdat Heidary, Catherine Ozilou, Alain Bernheim, Mathilde Nizon, A Munnich, Jean‐Paul Bonnefont, Serge Romana, Michel Vekemans, C Turleau, Valérie Malan	2012	23

About Mathilde Nizon

Mathilde Nizon is a scholar working on Genetics, Developmental Biology, Clinical Biochemistry, Genetics and Pediatrics, Perinatology and Child Health, having authored 26 papers that have together received 387 indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (8 papers), Genetics and Neurodevelopmental Disorders (7 papers), Genomics and Rare Diseases (6 papers), RNA regulation and disease (3 papers), Congenital heart defects research (3 papers), Prenatal Screening and Diagnostics (3 papers), Folate and B Vitamins Research (3 papers) and Hedgehog Signaling Pathway Studies (2 papers). The work is most often cited by research in Clinical Biochemistry (70 citations), Genetics (153 citations), Developmental Biology (8 citations), Molecular Biology (239 citations) and Cellular and Molecular Neuroscience (45 citations). Mathilde Nizon has collaborated with scholars based in France, United States and Germany. Frequent co-authors include Jean‐Paul Bonnefont, Florence Habarou, Chris Ottolenghi, Bertrand Isidor, Valérie Malan, Nathalie Boddaert, Pierre Boisseau, Marie Vincent, Peter Spazzapan and Geneviève Baujat. Their work appears in journals such as European Journal of Human Genetics, Orphanet Journal of Rare Diseases, European Journal of Medical Genetics, Journal of Medical Genetics and Clinical Genetics.

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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