Ron Hochstenbach

Affiliations

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Publications (7)

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

American journal of medical genetics. Part A

Avec: Elliot S Stolerman , Elizabeth Francisco , Jennifer L Stallworth , Julie R Jones , Kristin G Monaghan , Jennifer Keller-Ramey , Richard Person , Ingrid M Wentzensen , Kirsty McWalter , Boris Keren , Benedicte Heron , Caroline Nava , Delphine Heron , Katherine Kim , Barbara Burton , Fatima Al-Musafri , Lauren O'Grady , Inderneel Sahai , Luis F Escobar , Marije Meuwissen , Edwin Reyniers , Frank Kooy , Yves Lacassie , Meral Gunay-Aygun , Krista Sondergaard Schatz , Ron Hochstenbach , Petra J G Zwijnenburg , Quinten Waisfisz , Marjon van Slegtenhorst , Grazia M S Mancini , Raymond J Louie

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

HGG advances

Avec: Liselot van der Laan , Peter Lauffer , Kathleen Rooney , Ananília Silva , Sadegheh Haghshenas , Raissa Relator , Michael A Levy , Slavica Trajkova , Sylvia A Huisman , Emilia K Bijlsma , Tjitske Kleefstra , Bregje W van Bon , Özlem Baysal , Christiane Zweier , María Palomares-Bralo , Jan Fischer , Katalin Szakszon , Laurence Faivre , Amélie Piton , Simone Mesman , Ron Hochstenbach , Mariet W Elting , Johanna M van Hagen , Astrid S Plomp , Marcel M A M Mannens , Mariëlle Alders , Mieke M van Haelst , Giovanni B Ferrero , Alfredo Brusco , Peter Henneman , David A Sweetser , Bekim Sadikovic , Antonio Vitobello , Leonie A Menke

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.

Genome medicine

Avec: Sjors Middelkamp , Judith M Vlaar , Jacques Giltay , Jerome Korzelius , Nicolle Besselink , Sander Boymans , Roel Janssen , Lisanne de la Fonteijne , Ellen van Binsbergen , Markus J van Roosmalen , Ron Hochstenbach , Daniela Giachino , Michael E Talkowski , Wigard P Kloosterman , Edwin Cuppen

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Kathleen Rooney , Liselot van der Laan , Slavica Trajkova , Sadegheh Haghshenas , Raissa Relator , Peter Lauffer , Niels Vos , Michael A Levy , Nicola Brunetti-Pierri , Gaetano Terrone , Cyril Mignot , Boris Keren , Thierry B de Villemeur , Catharina M L Volker-Touw , Nienke Verbeek , Jasper J van der Smagt , Renske Oegema , Alfredo Brusco , Giovanni B Ferrero , Mala Misra-Isrie , Ron Hochstenbach , Mariëlle Alders , Marcel M A M Mannens , Bekim Sadikovic , Mieke M van Haelst , Peter Henneman

Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories.

European journal of human genetics : EJHG

Avec: Ron Hochstenbach , Thomas Liehr , Rosalind J Hastings

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.

European journal of medical genetics

Avec: Ron Hochstenbach , Ellen van Binsbergen , Heleen Schuring-Blom , Arjan Buijs , Hans Kristian Ploos van Amstel

Prevalence and Phenotypic Impact of Robertsonian Translocations.

Molecular syndromology

Avec: Martin Poot , Ron Hochstenbach

Réseau de co-auteurs

Boris Keren 2 collaborations

Liselot van der Laan 2 collaborations

Peter Lauffer 2 collaborations

Kathleen Rooney 2 collaborations

Sadegheh Haghshenas 2 collaborations

Raissa Relator 2 collaborations

Michael A Levy 2 collaborations

Slavica Trajkova 2 collaborations

Marcel M A M Mannens 2 collaborations

Mariëlle Alders 2 collaborations

Mieke M van Haelst 2 collaborations

Giovanni B Ferrero 2 collaborations

Alfredo Brusco 2 collaborations

Peter Henneman 2 collaborations

Bekim Sadikovic 2 collaborations

Ellen van Binsbergen 2 collaborations

Elliot S Stolerman 1 collaboration

Elizabeth Francisco 1 collaboration

Jennifer L Stallworth 1 collaboration

Julie R Jones 1 collaboration

Kristin G Monaghan 1 collaboration

Jennifer Keller-Ramey 1 collaboration

Richard Person 1 collaboration

Ingrid M Wentzensen 1 collaboration

Kirsty McWalter 1 collaboration

Benedicte Heron 1 collaboration

Caroline Nava 1 collaboration

Delphine Heron 1 collaboration

Katherine Kim 1 collaboration

Barbara Burton 1 collaboration

Fatima Al-Musafri 1 collaboration

Lauren O'Grady 1 collaboration

Inderneel Sahai 1 collaboration

Luis F Escobar 1 collaboration

Marije Meuwissen 1 collaboration

Edwin Reyniers 1 collaboration

Frank Kooy 1 collaboration

Yves Lacassie 1 collaboration

Meral Gunay-Aygun 1 collaboration

Krista Sondergaard Schatz 1 collaboration

Petra J G Zwijnenburg 1 collaboration

Quinten Waisfisz 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Grazia M S Mancini 1 collaboration

Raymond J Louie 1 collaboration

Ananília Silva 1 collaboration

Sylvia A Huisman 1 collaboration

Emilia K Bijlsma 1 collaboration

Tjitske Kleefstra 1 collaboration

Bregje W van Bon 1 collaboration

Özlem Baysal 1 collaboration

Christiane Zweier 1 collaboration

María Palomares-Bralo 1 collaboration

Jan Fischer 1 collaboration

Katalin Szakszon 1 collaboration

Laurence Faivre 1 collaboration

Amélie Piton 1 collaboration

Simone Mesman 1 collaboration

Mariet W Elting 1 collaboration

Johanna M van Hagen 1 collaboration

Astrid S Plomp 1 collaboration

David A Sweetser 1 collaboration

Antonio Vitobello 1 collaboration

Leonie A Menke 1 collaboration

Sjors Middelkamp 1 collaboration

Judith M Vlaar 1 collaboration

Jacques Giltay 1 collaboration

Jerome Korzelius 1 collaboration

Nicolle Besselink 1 collaboration

Sander Boymans 1 collaboration

Roel Janssen 1 collaboration

Lisanne de la Fonteijne 1 collaboration

Markus J van Roosmalen 1 collaboration

Daniela Giachino 1 collaboration

Michael E Talkowski 1 collaboration

Wigard P Kloosterman 1 collaboration

Edwin Cuppen 1 collaboration

Niels Vos 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Gaetano Terrone 1 collaboration

Cyril Mignot 1 collaboration

Thierry B de Villemeur 1 collaboration

Catharina M L Volker-Touw 1 collaboration

Nienke Verbeek 1 collaboration

Jasper J van der Smagt 1 collaboration

Renske Oegema 1 collaboration

Mala Misra-Isrie 1 collaboration

Thomas Liehr 1 collaboration

Rosalind J Hastings 1 collaboration

Heleen Schuring-Blom 1 collaboration

Arjan Buijs 1 collaboration

Hans Kristian Ploos van Amstel 1 collaboration

Martin Poot 1 collaboration