Hilde Van Esch

15.1k citations
148 papers · 5.7k · h-index 40

Impact in

  • Genetics top 0.2%
    • Genetics and Neurodevelopmental Disorders
    • Genomic variations and chromosomal abnormalities
    • Genomics and Rare Diseases
  • Molecular Biology top 2%
    • Congenital heart defects research
    • Epigenetics and DNA Methylation
    • RNA modifications and cancer

Papers in

  • Genetics 95
    • Genetics and Neurodevelopmental Disorders 56
    • Genomic variations and chromosomal abnormalities 49
    • Genomics and Rare Diseases 16
    • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 8
  • Molecular Biology 70
    • Congenital heart defects research 18
    • Genomics and Chromatin Dynamics 9
Co-authors
Koenraad Devriendt (50 shared papers)Jean‐Pierre Fryns (20 shared papers)Guy Froyen (27 shared papers)Joris Vermeesch (38 shared papers)Marijke Bauters (14 shared papers)Peter Marynen (13 shared papers)Jozef Gécz (6 shared papers)Thomy de Ravel (19 shared papers)
Journals
European Journal of Medical Genetics (19 papers)European Journal of Human Genetics (13 papers)Human Mutation (9 papers)Clinical Genetics (7 papers)The American Journal of Human Genetics (7 papers)
Partner nations
BelgiumUnited StatesGermany

In The Last Decade

Hilde Van Esch

145 papers receiving 5.6k citations

Peers

Hilde Van Esch
Comparison fields: 5 of 113
  • Genetics 3.1k
  • Molecular Biology 3.2k
  • Pediatrics, Perinatology and Child Health 557
  • Cognitive Neuroscience 594
  • Developmental Neuroscience 107
Replace Vera M. Kalscheuer with:
Vera M. Kalscheuer Germany
Tjitske Kleefstra Netherlands
Anita Rauch Germany
Samantha J.L. Knight United Kingdom
Jill A. Rosenfeld United States
Ankita Patel United States
Helger G. Yntema Netherlands
Erik A. Sistermans Netherlands
Bert B.A. de Vries Netherlands
Lisbeth Tranebjærg Denmark
Hilde Van Esch relative to Vera M. Kalscheuer Germany Vera M. Kalscheuer's profile →
Citations per field
00.5×1.7×
Vera M. Kalscheuer · 1×
Citations per year

Countries citing papers authored by Hilde Van Esch

Since Specialization
Citations

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

Fields of papers citing papers by Hilde Van Esch

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Hilde Van Esch. 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 Hilde Van Esch. The network helps show where Hilde Van Esch may publish in the future.

Co-authors

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

All Works

20 of 20 papers shown

Showing the 20 most-cited of 148 papers — load more, or switch the sort, to bring in the rest.

#Work
1
Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males
The American Journal of Human Genetics ·Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Mieke Jansen, Martine Raynaud, Karen Hollanders, Dorien Lugtenberg, Thierry Bienvenu, Lars Riff Jensen, Jozef Gécz, Claude Moraine, Peter Marynen, Jean‐Pierre Fryns, Guy Froyen
2005475
2
GATA3 haplo-insufficiency causes human HDR syndrome
Nature ·Hilde Van Esch, Peter Groenen, M. Andrew Nesbit, Simone Schuffenhauer, Peter Lichtner, Gert Vanderlinden, Brian Harding, Rolf Beetz, Rudolf W. Bilous, I. M. Holdaway, Nicholas J Shaw, J P Fryns, Wim Van de Ven, Rajesh V. Thakker, Koenraad Devriendt
2000403
3
Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation
The American Journal of Human Genetics ·Lars Riff Jensen, M Amende, Ulf Gurok, Bettina A. Moser, Verena Gimmel, Andreas Tzschach, Andreas Janecke, Gholamali Tariverdian, Jamel Chelly, Jean‐Pierre Fryns, Hilde Van Esch, Tjitske Kleefstra, B Hamel, Claude Moraine, Jozef Gécz, Gillian Turner, Richard Reinhardt, Vera M. Kalscheuer, Hans‐Hilger Ropers, Steffen Lenzner
2005288
4
Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
The American Journal of Human Genetics ·Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier‐Daire, Hilde Van Esch, Jean‐Pierre Fryns, Ben C.J. Hamel, Erik A. Sistermans, Bert B.A. de Vries, Hans van Bokhoven
2006279
5
Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation
The American Journal of Human Genetics ·Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe, Kirsten Hoffmann, Bettina A. Moser, Martine Raynaud, Jürgen Sperner, Jean‐Pierre Fryns, E. Schwinger, Jozef Gécz, Hans‐Hilger Ropers, Vera M. Kalscheuer
2004237
6
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage ofXLMRgenes
Human Mutation ·Guy Froyen, Hilde Van Esch, Marijke Bauters, Karen Hollanders, Suzanna G.M. Frints, Joris Vermeesch, Koenraad Devriendt, Jean‐Pierre Fryns, Peter Marynen
2007140
7
<i>MECP2</i> Duplication Syndrome
Molecular Syndromology ·Hilde Van Esch
2011121
8
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
Human Mutation ·Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole Van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luís Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y. Kroes, Johan Vande Walle, Thomy de Ravel, Bart P. Leroy, (unknown)
2010111
9
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
European Journal of Human Genetics ·Baran Bayindir, Luc Dehaspe, Nathalie Brison, Paul Brady, Simon Ardui, Molka Kammoun, Lars van der Veken, Klaske D. Lichtenbelt, Kris Van Den Bogaert, Jeroen Van Houdt, Hilde Peeters, Hilde Van Esch, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch
2015101
10
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Genome Research ·Marijke Bauters, Hilde Van Esch, Michael J. Friez, Odile Boespflug‐Tanguy, Martin Zenker, Angela Maria Vianna‐Morgante, Carla Rosenberg, Jaakko Ignatius, Martine Raynaud, Karen Hollanders, Karen Govaerts, Kris Vandenreijt, Florence Niel, Pierre Blanc, Roger E. Stevenson, Jean‐Pierre Fryns, Peter Marynen, Charles E. Schwartz, Guy Froyen
200892
11
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Molecular Psychiatry ·Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar, Lam Son Nguyen, Hilde Van Esch, Tjitske Kleefstra, Sylvain Briault, J. P. Fryns, B Hamel, Jamel Chelly, Hans‐Hilger Ropers, Nathalie Ronce, S. Blesson, Claude Moraine, Jozef Gécz, Martine Raynaud
200989
12
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
Journal of Medical Genetics ·Nadia Bahi‐Buisson, Karine Poirier, Nathalie Boddaert, Yoann Saillour, L. Castelnau, N. Philip, Gunnar Buyse, Laurent Villard, Sylvie Joriot, Stéphane Marret, Monique Bourgeois, Hilde Van Esch, Lieven Lagae, Jeanne Amiel, Lucie Hertz‐Pannier, Agathe Roubertie, François Rivier, J.-M. Pinard, C. Beldjord, Jamel Chelly
200885
13
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
Human Molecular Genetics ·Hilde Van Esch, Karen Hollanders, Liesbeth Badisco, Cindy Melotte, Paul Van Hummelen, Joris Vermeesch, Koenraad Devriendt, Jean‐Pierre Fryns, Peter Marynen, Guy Froyen
200585
14
Altered neuronal network and rescue in a human MECP2 duplication model
Molecular Psychiatry ·Savitha Nageshappa, Cassiano Carromeu, Cleber A. Trujillo, Pinar Mesci, Ira Espuny-Camacho, Emanuela Pasciuto, Pierre Vanderhaeghen, Catherine M. Verfaillie, Susanna Raitano, Anushree Kumar, Claudia M.B. Carvalho, Claudia Bagni, Melissa B. Ramocki, Bruno Henrique Silva Araújo, Laila Brito Torres, James R. Lupski, Hilde Van Esch, Alysson R. Muotri
201584
15
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome
Human Mutation ·Jacek Majewski, Jeremy Schwartzentruber, Aurore Caqueret, Lysanne Patry, Janet Marcadier, Jean‐Pierre Fryns, Kym M. Boycott, Louis‐Georges Ste‐Marie, Fergus E. McKiernan, Ivo Mařík, Hilde Van Esch, Jacques L. Michaud, Mark E. Samuels
201182
16
Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills
Molecular Syndromology ·A Denayer, Hilde Van Esch, Thomy de Ravel, Jean‐Pierre Frijns, Griet Van Buggenhout, Annick Vogels, Koenraad Devriendt, J. Geutjens, Paul Thiry, Ann Swillen
201277
17
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons
Molecular Brain Research ·Karine Poirier, Hilde Van Esch, Gaëlle Friocourt, Yoann Saillour, Nadia Bahi, Stéphanie Backer, Evelyne Souil, Laëtitia Castelnau-Ptakhine, Chérif Beldjord, Fiona Francis, Thierry Bienvenu, Jamel Chelly
200475
18
Clinical implementation of NIPT – technical and biological challenges
Clinical Genetics ·Paul Brady, Nathalie Brison, K Van Den Bogaert, Thomy de Ravel, Hilde Peeters, Hilde Van Esch, Koenraad Devriendt, Eric Legius, Joris Vermeesch
201574
19
Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy
Molecular Cell ·Dominik Haddad, Sven Vilain, Melissa Vos, Giovanni Esposito, Samer Matta, Vera M. Kalscheuer, Katleen Craessaerts, Maarten Leyssen, Rafaella M.P. Nascimento, Angela Maria Vianna‐Morgante, Bart De Strooper, Hilde Van Esch, Vanessa A. Morais, Patrik Verstreken
201367
20
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
Human Mutation ·Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, Gert Van Goethem, Koenraad Devriendt, Mónica Rosello, Sonia Mayo, Francisco Martı́nez, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Joris Vermeesch, Peter Marynen, Guy Froyen
201667

About Hilde Van Esch

Hilde Van Esch is a scholar working on Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Plant Science and Cell Biology, having authored 148 papers that have together received 5.7k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (56 papers), Genomic variations and chromosomal abnormalities (49 papers), Congenital heart defects research (18 papers), Genomics and Rare Diseases (16 papers), Chromosomal and Genetic Variations (15 papers), Prenatal Screening and Diagnostics (14 papers), Genomics and Chromatin Dynamics (9 papers) and Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (8 papers). The work is most often cited by research in Genetics (3.1k citations), Molecular Biology (3.2k citations), Pediatrics, Perinatology and Child Health (557 citations), Cognitive Neuroscience (594 citations) and Developmental Neuroscience (107 citations). Hilde Van Esch has collaborated with scholars based in Belgium, United States and Germany. Frequent co-authors include Koenraad Devriendt, Jean‐Pierre Fryns, Guy Froyen, Joris Vermeesch, Marijke Bauters, Peter Marynen, Jozef Gécz, Thomy de Ravel, Martine Raynaud and Karen Hollanders. Their work appears in journals such as European Journal of Medical Genetics, European Journal of Human Genetics, Human Mutation, Clinical Genetics and The American Journal of Human 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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