Isabelle Maystadt

4.2k total citations
32 papers, 946 citations indexed

About

Isabelle Maystadt is a scholar working on Genetics, Molecular Biology and Genetics. According to data from OpenAlex, Isabelle Maystadt has authored 32 papers receiving a total of 946 indexed citations (citations by other indexed papers that have themselves been cited), including 19 papers in Genetics, 16 papers in Molecular Biology and 4 papers in Genetics. Recurrent topics in Isabelle Maystadt's work include Genetics and Neurodevelopmental Disorders (10 papers), Genomic variations and chromosomal abnormalities (9 papers) and Genomics and Rare Diseases (8 papers). Isabelle Maystadt is often cited by papers focused on Genetics and Neurodevelopmental Disorders (10 papers), Genomic variations and chromosomal abnormalities (9 papers) and Genomics and Rare Diseases (8 papers). Isabelle Maystadt collaborates with scholars based in Belgium, France and United Kingdom. Isabelle Maystadt's co-authors include Damien Lederer, Valérie Benoît, Christine Verellen‐Dumoulin, Bernard Grisart, Bruno Dallapiccola, S. Ghariani, M. Cristina Digilio, Stéphanie Moortgat, Louis Viollet and Shane McKee and has published in prestigious journals such as SHILAP Revista de lepidopterología, Neurology and International Journal of Molecular Sciences.

In The Last Decade

Isabelle Maystadt

32 papers receiving 929 citations

Peers

Countries citing papers authored by Isabelle Maystadt

Since Specialization

Citations

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

Fields of papers citing papers by Isabelle Maystadt

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Isabelle Maystadt

This figure shows the co-authorship network connecting the top 25 collaborators of Isabelle Maystadt. A scholar is included among the top collaborators of Isabelle Maystadt based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Isabelle Maystadt. Isabelle Maystadt is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Prescribing sustainability: should UN sustainable development goals be part of the medical, pharmacy, and biomedical education? 2024 ·Frontiers in Medicine ·Grégoire Wieërs, (unknown), Isabelle Maystadt, Charles Nicaise, (unknown), (unknown), (unknown), Jean-Michel Dogné	4
2	Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance 2022 ·Frontiers in Endocrinology ·Tanguy Demaret, René Wintjens, (unknown), (unknown), (unknown), C Ide, (unknown), (unknown), Valérie Benoît, Isabelle Maystadt	5
3	Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant 2022 ·Frontiers in Neurology ·(unknown), Bart Wagner, Amy E. Vincent, Gaëtan Garraux, (unknown), Rudy Van Coster, Valérie Benoît, (unknown), Guy Lenaers, Naïg Guéguen, Arnaud Chevrollier, Isabelle Maystadt	8
4	Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6 2022 ·Clinical Genetics ·(unknown), (unknown), Oliver Bartsch, Siren Berland, (unknown), (unknown), Ian Hayes, Purificación Marín Reina, Paul R. Mark, Francisco Martı́nez, Isabelle Maystadt, (unknown), Katharina Steindl, Antje Wiesener, Markus Zweier, Heinrich Sticht, Christiane Zweier	3
5	Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1 2021 ·European Journal of Medical Genetics ·(unknown), René Wintjens, Anabelle Decottignies, Ahmad Merhi, (unknown), (unknown), (unknown), Valérie Benoît, (unknown), (unknown), (unknown), (unknown), Isabelle Maystadt	2
6	Broadening the phenotypic spectrum and physiological insights related toEIF2S3variants 2021 ·Human Mutation ·Stéphanie Moortgat, Isabelle Manfroid, Hélène Pendeville, Stephen Freeman, (unknown), Valérie Benoît, Ahmad Merhi, Christophe Philippe, Laurence Faivre, Isabelle Maystadt	6
7	Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation 2018 ·Clinical Case Reports ·(unknown), Valérie Benoît, Damien Lederer, (unknown), (unknown), (unknown), (unknown), Catherine Wanty, Isabelle Maystadt	5
8	Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia 2018 ·European Journal of Medical Genetics ·Stéphanie Moortgat, Damien Lederer, Marie Deprez, Marga Buzatu, Philippe Clapuyt, (unknown), Valérie Benoît, Sandrine Mary, Agnès Guichet, (unknown), Estelle Colin, Dominique Bonneau, Isabelle Maystadt	8
9	PREPL deficiency: delineation of the phenotype and development of a functional blood assay 2017 ·Genetics in Medicine ·Luc Régal, (unknown), Isabelle Maystadt, Nicol C. Voermans, Damien Lederer, Alberto Burlina, (unknown), A. Jeannette M. Hoogeboom, (unknown), (unknown), Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil, Erik-Jan Kamsteeg, John W.M. Creemers	24
10	Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy 2016 ·American Journal of Medical Genetics Part A ·Stéphanie Moortgat, Julie Désir, Valérie Benoît, (unknown), Hélène Pendeville, Marie‐Cécile Nassogne, Damien Lederer, Isabelle Maystadt	41
11	Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity 2016 ·European Journal of Medical Genetics ·Sophie Lambert, Isabelle Maystadt, (unknown), Pascal Vrielynck, Anne Destrèe, Damien Lederer, Stéphanie Moortgat	13
12	De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability 2015 ·American Journal of Medical Genetics Part A ·Michael Parker, Alan Fryer, Deborah Shears, Katherine Lachlan, Shane McKee, Alex Magee, Shehla Mohammed, Pradeep Vasudevan, Soo‐Mi Park, Valérie Benoît, Damien Lederer, Isabelle Maystadt, (unknown), David Fitzpatrick	79
13	DYRK1A mutations in two unrelated patients 2015 ·European Journal of Medical Genetics ·(unknown), Cyril Mignot, Agnès Guët, (unknown), Caroline Nava, Delphine Héron, Boris Keren, Christel Depienne, Valérie Benoît, Isabelle Maystadt, Damien Lederer, Daniel Amsallem, Juliette Piard	24
14	Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2) 2014 ·Clinical Genetics ·Siddharth Banka, Damien Lederer, Valérie Benoît, Emma Jenkins, Emma Howard, (unknown), Bronwyn Kerr, Shane McKee, I. Christopher Lloyd, (unknown), Helen Stewart, Susan M. White, Ravi Savarirayan, Grazia M.S. Mancini, Diane Beysen, Ronald D. Cohn, Bernard Grisart, Isabelle Maystadt, Dian Donnai	91
15	A three generation X‐linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A 2014 ·American Journal of Medical Genetics Part A ·Damien Lederer, Debbie Shears, Valérie Benoît, Christine Verellen‐Dumoulin, Isabelle Maystadt	32
16	Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease 2012 ·The American Journal of Human Genetics ·Alessia Indrieri, (unknown), Valeria Tiranti, Manuela Morleo, Daniela Iaconis, Roberta Tammaro, Ilaria D’Amato, Iván Conte, Isabelle Maystadt, Stephanie Demuth, Alex Zvulunov, Kerstin Kutsche, Massimo Zeviani, Brunella Franco	102
17	Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome 2011 ·The American Journal of Human Genetics ·Damien Lederer, Bernard Grisart, M. Cristina Digilio, Valérie Benoît, (unknown), S. Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen‐Dumoulin	248
18	Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome 2010 ·European Journal of Medical Genetics ·Stéphanie Moortgat, Christine Verellen‐Dumoulin, Isabelle Maystadt, Benoît Parmentier, Bernard Grisart, (unknown), Anne Destrèe	4
19	The Nuclear Factor κB–Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset 2007 ·The American Journal of Human Genetics ·Isabelle Maystadt, René Rezsöhazy, Martine Barkats, Sandra Duqué, (unknown), Sophie Remacle, (unknown), Mustapha Najimi, Étienne Sokal, Arnold Munnich, Louis Viollet, Christine Verellen‐Dumoulin	62
20	Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families 2004 ·European Journal of Human Genetics ·Louis Viollet, Mohammed Zarhrate, Isabelle Maystadt, (unknown), A Barois, Isabelle Desguerre, M. Mayer, B. Chabrol, Bruno Leheup, Véronica Cusin, Thierry Billette de Villemeur, Dominique Bonneau, Pascale Saugier-Véber, (unknown), Anne Delaubier, (unknown), Marc Jeanpierre, (unknown), Arnold Münnich	12

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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