All papers authored by Hilde van Esch
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2024
Lisanne Vervoort,
Nicolas Dierckxsens,
Marta Sousa Santos,
Senne Meynants,
Erika Souche,
Ruben Cools,
Tracy Heung,
Koen Devriendt,
Hilde Peeters,
Donna M. McDonald McGinn,
Ann Swillen,
Jeroen Breckpot,
Beverly S. Emanuel,
Hilde Van Esch 
,
Anne S. Bassett
and 1 other authors
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,
Anne S. Bassett
and 1 other authors
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Alexander J. M. Dingemans,
Max Hinne,
Kim M. G. Truijen,
Lia Goltstein ,
Jeroen van Reeuwijk ,
Nicole de Leeuw ,
Janneke Schuurs-Hoeijmakers,
Rolph Pfundt,
Illja J. Diets,
Joery den Hoed ,
Elke de Boer ,
Jet Coenen-Van der Spek ,
Sandra Jansen,
Bregje W. van Bon,
Noraly Jonis
and 18 other authors
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,
Jeroen van Reeuwijk ,
Nicole de Leeuw ,
Janneke Schuurs-Hoeijmakers,
Rolph Pfundt,
Illja J. Diets,
Joery den Hoed ,
Elke de Boer ,
Jet Coenen-Van der Spek ,
Sandra Jansen,
Bregje W. van Bon,
Noraly Jonis
and 18 other authors
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Daphne J. Smits ,
Rachel Schot,
Cristiana A. Popescu,
Kerith-Rae Dias,
Lesley Ades,
Lauren C. Briere,
David A. Sweetser,
Itaru Kushima,
Branko Aleksic,
Suliman Khan,
Vasiliki Karageorgou,
Natalia Ordonez,
Frank J. G. T. Sleutels,
Daniëlle C. M. van der Kaay,
Christine Van Mol
and 4 other authors
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,
Rachel Schot,
Cristiana A. Popescu,
Kerith-Rae Dias,
Lesley Ades,
Lauren C. Briere,
David A. Sweetser,
Itaru Kushima,
Branko Aleksic,
Suliman Khan,
Vasiliki Karageorgou,
Natalia Ordonez,
Frank J. G. T. Sleutels,
Daniëlle C. M. van der Kaay,
Christine Van Mol
and 4 other authors
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Lisanne Vervoort,
Nicolas Dierckxsens,
Bo Zhou,
Ruben Cools,
Tracy Heung,
Greet Peeters,
Ann Swillen,
Jeroen Breckpot,
Steven Pastor,
Donna McDonald-Mcginn,
Beverly Emanuel,
Hilde Van Esch ,
Anne Bassett,
Alexander Urban,
Joris Vermeesch
,
Anne Bassett,
Alexander Urban,
Joris Vermeesch
22q11.2 rearrangements caused by NAHR and PATRR-mediated pathways
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Joke De Vocht,
Donatienne Van Weehaeghe ,
Fouke Ombelet ,
Pegah Masrori,
Nikita Lamaire,
Martijn Devrome,
Hilde Van Esch ,
Mathieu Moisse,
Michel Koole ,
Patrick Dupont,
Koen Van Laere,
Philip Van Damme
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,
Fouke Ombelet ,
Pegah Masrori,
Nikita Lamaire,
Martijn Devrome,
Hilde Van Esch ,
Mathieu Moisse,
Michel Koole ,
Patrick Dupont,
Koen Van Laere,
Philip Van Damme
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Mio Aerden ,
Anne-Sophie Denommé-Pichon ,
Dominique Bonneau,
Ange-Line Bruel ,
Julian Delanne,
Bénédicte Gérard,
Benoît Mazel ,
Christophe Philippe ,
Lucile Pinson,
Clément Prouteau,
Audrey Putoux,
Frédéric Tran Mau-Them ,
Éléonore Viora-Dupont ,
Antonio Vitobello ,
Alban Ziegler
and 43 other authors
,
Anne-Sophie Denommé-Pichon ,
Dominique Bonneau,
Ange-Line Bruel ,
Julian Delanne,
Bénédicte Gérard,
Benoît Mazel ,
Christophe Philippe ,
Lucile Pinson,
Clément Prouteau,
Audrey Putoux,
Frédéric Tran Mau-Them ,
Éléonore Viora-Dupont ,
Antonio Vitobello ,
Alban Ziegler
and 43 other authors
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
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2022
Liselot van der Laan ,
Kathleen Rooney ,
Mariëlle Alders,
Raissa Relator,
Haley McConkey,
Jennifer Kerkhof ,
Michael A. Levy,
Peter Lauffer ,
Mio Aerden,
Miel Theunis ,
Eric Legius,
Matthew L. Tedder ,
Lisenka E. L. M. Vissers ,
Saskia Koene,
Claudia Ruivenkamp
and 20 other authors
,
Kathleen Rooney ,
Mariëlle Alders,
Raissa Relator,
Haley McConkey,
Jennifer Kerkhof ,
Michael A. Levy,
Peter Lauffer ,
Mio Aerden,
Miel Theunis ,
Eric Legius,
Matthew L. Tedder ,
Lisenka E. L. M. Vissers ,
Saskia Koene,
Claudia Ruivenkamp
and 20 other authors
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
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Ilona Gottschalk,
Uwe Kölsch,
Horst von Bernuth ,
Dimitrios L. Wagner,
Jonas Kath,
Stefania Martini,
Renate Krüger,
Anne Puel,
Jean-Laurent Casanova,
Aleksandra Jezela-Stanek,
Rainer Rossi,
Salima El Chehadeh,
Hilde Van Esch ,
H. Von Bernuth
Download from link.springer.com
,
Dimitrios L. Wagner,
Jonas Kath,
Stefania Martini,
Renate Krüger,
Anne Puel,
Jean-Laurent Casanova,
Aleksandra Jezela-Stanek,
Rainer Rossi,
Salima El Chehadeh,
Hilde Van Esch ,
H. Von Bernuth
Download from link.springer.com
Janneke M. L. Kuiper ,
Pascal Borry ,
Danya F. Vears ,
Hilde Van Esch ,
Ine Van Hoyweghen
,
Pascal Borry ,
Danya F. Vears ,
Hilde Van Esch ,
Ine Van Hoyweghen
Navigating the uncertainties of next‐generation sequencing in the genetics clinic
Download from onlinelibrary.wiley.com
Nona Merckx ,
Hilde Van Esch
,
Hilde Van Esch
Human Brain Models of Intellectual Disability: Experimental Advances and Novelties
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Jeroen Depreeuw,
Erika Souche,
Joke Allemeersch,
Wouter Bossuyt,
Kristl Claeys,
Philip Van Damme,
Sien Van Daele,
Liesbeth De Waele,
Nathalie Goemans,
Els Orbitus,
Katleen Ballon,
Hilde Van Esch ,
Gert Matthijs,
Sascha Vermeer,
Valerie Race
,
Gert Matthijs,
Sascha Vermeer,
Valerie Race
Short tandem repeat detection in next-generation sequencing data
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Alexander J. M. Dingemans,
Max Hinne,
Kim M. G. Truijen,
Lia Goltstein,
Jeroen van Reeuwijk,
Nicole de Leeuw,
Janneke Schuurs-Hoeijmakers,
Rolph Pfundt,
Illja J. Diets,
Joery den Hoed,
J. den Hoed,
Elke de Boer,
Jet Coenen van der Spek,
Sandra Jansen,
Bregje W. van Bon
and 18 other authors
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation
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