Hilde Van Esch

14.8k citations

148 papers · 5.6k indexed · 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 109
- Genetics and Neurodevelopmental Disorders 64
- Genomic variations and chromosomal abnormalities 58
- Genomics and Rare Diseases 19
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 8
Developmental Biology 5

Co-authors: Koenraad Devriendt Jean‐Pierre Fryns Guy Froyen Joris Vermeesch Marijke Bauters Peter Marynen Jozef Gécz Thomy de Ravel
Journals: European Journal of Medical Genetics (19 papers)European Journal of Human Genetics (13 papers)Human Mutation (9 papers)The American Journal of Human Genetics (7 papers)Clinical Genetics (7 papers)
Partner nations: Belgium United States Germany

In The Last Decade

Hilde Van Esch

144 papers receiving 5.5k citations

Peers

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

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20 of 20 papers shown

#	Work
1	Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells Nucleic Acids Research ·Jenipher Kener Myslei André, Olga Tšuiko, Tatjana Jatsenko, José Victor Alexandre de Oliveira Nunes, Markus Mohrhard, Mahmoud Saeedimoghaddam, Eftychia Dimitriadou, Arne Vanhie, Karen Peeraer, Sophie Debrock, Hilde Van Esch, Joris Vermeesch	2025	0
2	Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome Genome Research ·Aleksei Suchkov, Nicolas Dierckxsens, Emily V. Santos, Phil Rothman, Erika Souche, Wilder Martin Sevillano, Tracy Heung, Koenraad Devriendt, Hilde Peeters, Donna M. McDonald‐McGinn, Ann Swillen, Jeroen Breckpot, Beverly S. Emanuel, Hilde Van Esch, Anne S. Bassett, Joris Vermeesch	2024	1
3	Differences in Cerebral Glucose Metabolism in ALS Patients with and without C9orf72 and SOD1 Mutations Cells ·Joke De Vocht, Donatienne Van Weehaeghe, P. Clingan, Pegah Masrori, Argyro Ftergioti, Jennifer Kennison, Hilde Van Esch, S Shende, Michel Koole, Patrick Dupont, Koen Van Laere, Philip Van Damme	2023	13
4	Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography European Journal of Human Genetics ·雄樹佐藤, Pascal Borry, Danya F. Vears, Hilde Van Esch, Martina C. Cornel, Ine Van Hoyweghen	2023	3
5	Navigating the uncertainties of next‐generation sequencing in the genetics clinic Sociology of Health & Illness ·雄樹佐藤, Pascal Borry, Danya F. Vears, Hilde Van Esch, Ine Van Hoyweghen	2022	8
6	RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement European Journal of Neurology ·日本政策投資銀行地域企画チーム, Matthieu Moisse, Valérie Race, Petra Kurcová, Liesbeth Keldermans, Sascha Vermeer, Hilde Van Esch, Kristl G. Claeys, Philip Van Damme	2021	6
7	Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature Clinical Genetics ·B James Filla, Katherine Tiang, Mathieu P. Rodero, Ana Palmerín, Karen Rebecca McClellan, Martin Lammens, Paul De Cock, Hilde Van Esch, G. Fichet de Clairfontaine, Anne Rochtus	2020	3
8	Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism The American Journal of Human Genetics ·Hilde Van Esch, Rita Colnaghi, Kathleen Freson, Petro Starokadomskyy, Andreas Zankl, Liesbeth Backx, Tatiana Motta Tavares, Emily Outwin, Luis Rohena, Claire Faulkner, Gary M. Leong, Ruth Newbury‐Ecob, Rachel Challis, Katrin Õunap, Aline Cristina Cruz da Silva, Eve Seuntjens, Koenraad Devriendt, Ezra Burstein, Karen Low, Mark O’Driscoll	2019	26
9	A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility Human Molecular Genetics ·Fabrizia Claudia Guarnieri, Davide Pozzi, Andrea Raimondi, Riccardo Fesce, Marco Valente, Aishwarya Phadtare, Hilde Van Esch, Michela Matteoli, Fabio Benfenati, Patrizia D’Adamo, Flavia Valtorta	2017	32
10	Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing Human Mutation ·Simon Ardui, Valérie Race, Envarbik M. Fazelianov, Matthew S. Hestand, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris Vermeesch	2016	31
11	Altered neuronal network in iPSC derived cortical neurons from patients with MECP2 duplication syndrome European Journal of Human Genetics ·G. Weihs, Egon Lendl, Franciele Cettolin, Claudia Bagni, Catherine M. Verfaillie, Claudia M.B. Carvalho, Melissa B. Ramocki, Golbakhshi, Pierre Vanderhaeghen, Alysson R. Muotri, Hilde Van Esch	2014	1
12	Novel changes in the SLC16A2 gene identified by X-exome sequencing in two Finnish families with Allan-Herndon Dudley syndrome European Journal of Human Genetics ·Septia Nurhasanah, Maria Arvio, H Kääriäinen, Hilde Van Esch, Siegfried Haas, M. Schindzielorz, Guy Froyen, Irma Järvelä	2013	1
13	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, Malak El Rayes, Vera M. Kalscheuer, Katleen Craessaerts, Maarten Leyssen, A.E. Carkov, Angela Maria Vianna‐Morgante, Bart De Strooper, Hilde Van Esch, Vanessa A. Morais, Patrik Verstreken	2013	64
14	A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome Human Molecular Genetics ·Zhe Zhang, Joy Norris, Vera M. Kalscheuer, Tim Wood, Lin Wang, Charles E. Schwartz, Emil Alexov, Hilde Van Esch	2013	31
15	Refining the phenotype associated with MEF2C haploinsufficiency European Journal of Human Genetics ·Hilde Van Esch, Francesca Novara, Silvana Beri, Roberto Giorda, G. Weihs, Francesca Darra, Bernardo Dalla Bernardina, Orsetta Zuffardi	2010	4
16	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, Adnan Altunyurt, Florence Niel, Pierre Blanc, Roger E. Stevenson, Jean‐Pierre Fryns, Peter Marynen, Charles E. Schwartz, Guy Froyen	2008	92
17	Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome European Journal of Human Genetics ·Liesbeth Backx, Jean‐Pierre Fryns, Carlo Marcelis, Koenraad Devriendt, Joris Vermeesch, Hilde Van Esch	2008	7
18	Partial duplications of the ATRX gene cause the ATR-X syndrome European Journal of Human Genetics ·Bernard Thienpont, Thomy de Ravel, Hilde Van Esch, Dominique Van Schoubroeck, Philippe Moerman, Joris Vermeesch, Jean‐Pierre Fryns, Guy Froyen, Caroline Lacoste, Catherine Badens, Koenraad Devriendt	2007	25
19	Haploinsufficiency of the Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) gene causes the 9q subtelomeric deletion syndrome European Journal of Human Genetics ·Tjitske Kleefstra, Hwan-Yong Park, Haijun Zhuang, Mohd Fauzee Mohd Zaki, Sharron Marco-Thyse, Anthony I. Magee, Gabriele Gillessen‐Kaesbach, Hilde Van Esch, Jean‐Pierre Fryns, C Diyaroglu, Paula Gil Morláns, HG Brunner, 罗惠琼, Hans van Bokhoven	2006	1
20	Duplication of the MECP2 region is a frequent cause of severe mental retardation and neurological symptoms in males Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Martine Raynaud, Karen Hollanders, Dorien Lugtenberg, T. Bienvenu, Yang Jun-ha, 홍선연 장희정, Peter Marynen, Bonfilio Neltio Ariobimo, Jean‐Pierre Fryns	2006	1

About Hilde Van Esch

Hilde Van Esch is a scholar working on Genetics, Developmental Biology, Molecular Biology, Pediatrics, Perinatology and Child Health and Cell Biology, having authored 148 papers that have together received 5.6k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (64 papers), Genomic variations and chromosomal abnormalities (58 papers), Genomics and Rare Diseases (19 papers), Congenital heart defects research (19 papers), Prenatal Screening and Diagnostics (16 papers), Chromosomal and Genetic Variations (16 papers), Genomics and Chromatin Dynamics (11 papers) and Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (8 papers). The work is most often cited by research in Genetics (3.5k citations), Molecular Biology (3.5k citations), Cognitive Neuroscience (682 citations), Pediatrics, Perinatology and Child Health (629 citations) and Developmental Neuroscience (110 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, The American Journal of Human 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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