Joep C Defesche

Affiliations

Department of Clinical Genetics, University of Amsterdam, The Netherlands.

Publications (14)

Next-generation sequencing to confirm clinical familial hypercholesterolemia.

European journal of preventive cardiology

Avec: Laurens F Reeskamp , Tycho R Tromp , Joep C Defesche , Aldo Grefhorst , Erik S G Stroes , G Kees Hovingh , Linda Zuurbier

Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town.

Arteriosclerosis, thrombosis, and vascular biology

Avec: Roeland Huijgen , Dirk J Blom , Merel L Hartgers , Kévin Chemello , Asier Benito-Vicente , Kepa B Uribe , Zorena Behardien , Dee M Blackhurst , Brigitte C Brice , Joep C Defesche , Annemiek G de Jong , Rosemary J Jooste , Gabriele A E Solomon , Karen H Wolmarans , G Kees Hovingh , Cesar Martin , Gilles Lambert , A David Marais

Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.

Clinical genetics

Avec: Britt E Heidemann , Charlotte Koopal , Alexis Baass , Joep C Defesche , Linda Zuurbier , Monique T Mulder , Jeanine E Roeters van Lennep , Niels P Riksen , Christopher Boot , A David Marais , Frank L J Visseren

Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia.

Atherosclerosis

Avec: Tycho R Tromp , Shirin Ibrahim , Nick S Nurmohamed , Jorge Peter , Linda Zuurbier , Joep C Defesche , Laurens F Reeskamp , G Kees Hovingh , Erik S G Stroes

Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.

Current opinion in lipidology

Avec: M D Reijman , J C Defesche , A Wiegman

Next-generation sequencing to confirm clinical familial hypercholesterolemia.

European journal of preventive cardiology

Avec: Laurens F Reeskamp , Tycho R Tromp , Joep C Defesche , Aldo Grefhorst , Erik Sg Stroes , G Kees Hovingh , Linda Zuurbier

ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.

Journal of clinical lipidology

Avec: Laurens F Reeskamp , Andrea Volta , Linda Zuurbier , Joep C Defesche , G Kees Hovingh , Aldo Grefhorst

Differential DNA methylation in familial hypercholesterolemia.

EBioMedicine

Avec: Laurens F Reeskamp , Andrea Venema , Joao P Belo Pereira , Evgeni Levin , Max Nieuwdorp , Albert K Groen , Joep C Defesche , Aldo Grefhorst , Peter Henneman , G Kees Hovingh

Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.

Atherosclerosis

Avec: Laurens F Reeskamp , Manon Balvers , Jorge Peter , Laura van de Kerkhof , Lisette N Klaaijsen , Mahdi M Motazacker , Aldo Grefhorst , Natal A W van Riel , G Kees Hovingh , Joep C Defesche , Linda Zuurbier

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.

JAMA cardiology

Avec: Auteur inconnu , Katherine A Wilemon , Jasmine Patel , Carlos Aguilar-Salinas , Catherine D Ahmed , Mutaz Alkhnifsawi , Wael Almahmeed , Rodrigo Alonso , Khalid Al-Rasadi , Lina Badimon , Luz M Bernal , Martin P Bogsrud , Lynne T Braun , Liam Brunham , Alberico L Catapano , Kristyna Cillíková , Pablo Corral , Regina Cuevas , Joep C Defesche , Olivier S Descamps , Sarah de Ferranti , Jean-Luc Eiselé , Gerardo Elikir , Emanuela Folco , Tomas Freiberger , Francesco Fuggetta , Isabel M Gaspar , Ákos G Gesztes , Urh Grošelj , Ian Hamilton-Craig , Gabriele Hanauer-Mader , Mariko Harada-Shiba , Gloria Hastings , G Kees Hovingh , Maria C Izar , Allison Jamison , Gunnar N Karlsson , Meral Kayikçioglu , Sue Koob , Masahiro Koseki , Stacey Lane , Marcos M Lima-Martinez , Greizy López , Tania L Martinez , David Marais , Letrillart Marion , Pedro Mata , Inese Maurina , Diana Maxwell , Roopa Mehta , George A Mensah , André R Miserez , Dermot Neely , Stephen J Nicholls , Atsushi Nohara , Børge G Nordestgaard , Leiv Ose , Athanasios Pallidis , Jing Pang , Jules Payne , Amy L Peterson , Monica P Popescu , Raman Puri , Kausik K Ray , Ashraf Reda , Tiziana Sampietro , Raul D Santos , Inge Schalkers , Laura Schreier , Michael D Shapiro , Eric Sijbrands , Daniel Soffer , Claudia Stefanutti , Mario Stoll , Rody G Sy , Martha L Tamayo , Myra K Tilney , Lale Tokgözoglu , Brian Tomlinson , Antonio J Vallejo-Vaz , Alejandra Vazquez-Cárdenas , Patrícia Vieira de Luca , David S Wald , Gerald F Watts , Nanette K Wenger , Michaela Wolf , David Wood , Aram Zegerius , Thomas A Gaziano , Samuel S Gidding

The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.

Journal of clinical lipidology

Avec: Ilse K Luirink , Marjet J A M Braamskamp , Albert Wiegman , Merel L Hartgers , Barbara Sjouke , Joep C Defesche , G Kees Hovingh

Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the Netherlands.

Genes

Avec: Linda C Zuurbier , Joep C Defesche , Albert Wiegman

Assessment of practical applicability and clinical relevance of a commonly used LDL-C polygenic score in patients with severe hypercholesterolemia.

Atherosclerosis

Avec: Tycho R Tromp , Arjen J Cupido , Laurens F Reeskamp , Erik S G Stroes , G Kees Hovingh , Joep C Defesche , Amand F Schmidt , Linda Zuurbier

Rationale and design of two trials assessing the efficacy, safety, and tolerability of inclisiran in adolescents with homozygous and heterozygous familial hypercholesterolaemia.

European journal of preventive cardiology

Avec: M Doortje Reijman , Anja Schweizer , Amy L H Peterson , Eric Bruckert , Christian Stratz , Joep C Defesche , Robert A Hegele , Albert Wiegman

Réseau de co-auteurs

G Kees Hovingh 10 collaborations

Laurens F Reeskamp 7 collaborations

Linda Zuurbier 7 collaborations

Aldo Grefhorst 5 collaborations

Tycho R Tromp 4 collaborations

Erik S G Stroes 3 collaborations

Albert Wiegman 3 collaborations

Merel L Hartgers 2 collaborations

A David Marais 2 collaborations

Jorge Peter 2 collaborations

Roeland Huijgen 1 collaboration

Dirk J Blom 1 collaboration

Kévin Chemello 1 collaboration

Asier Benito-Vicente 1 collaboration

Kepa B Uribe 1 collaboration

Zorena Behardien 1 collaboration

Dee M Blackhurst 1 collaboration

Brigitte C Brice 1 collaboration

Annemiek G de Jong 1 collaboration

Rosemary J Jooste 1 collaboration

Gabriele A E Solomon 1 collaboration

Karen H Wolmarans 1 collaboration

Cesar Martin 1 collaboration

Gilles Lambert 1 collaboration

Britt E Heidemann 1 collaboration

Charlotte Koopal 1 collaboration

Alexis Baass 1 collaboration

Monique T Mulder 1 collaboration

Jeanine E Roeters van Lennep 1 collaboration

Niels P Riksen 1 collaboration

Christopher Boot 1 collaboration

Frank L J Visseren 1 collaboration

Shirin Ibrahim 1 collaboration

Nick S Nurmohamed 1 collaboration

M D Reijman 1 collaboration

J C Defesche 1 collaboration

A Wiegman 1 collaboration

Erik Sg Stroes 1 collaboration

Andrea Volta 1 collaboration

Andrea Venema 1 collaboration

Joao P Belo Pereira 1 collaboration

Evgeni Levin 1 collaboration

Max Nieuwdorp 1 collaboration

Albert K Groen 1 collaboration

Peter Henneman 1 collaboration

Manon Balvers 1 collaboration

Laura van de Kerkhof 1 collaboration

Lisette N Klaaijsen 1 collaboration

Mahdi M Motazacker 1 collaboration

Natal A W van Riel 1 collaboration

None None 1 collaboration

Katherine A Wilemon 1 collaboration

Jasmine Patel 1 collaboration

Carlos Aguilar-Salinas 1 collaboration

Catherine D Ahmed 1 collaboration

Mutaz Alkhnifsawi 1 collaboration

Wael Almahmeed 1 collaboration

Rodrigo Alonso 1 collaboration

Khalid Al-Rasadi 1 collaboration

Lina Badimon 1 collaboration

Luz M Bernal 1 collaboration

Martin P Bogsrud 1 collaboration

Lynne T Braun 1 collaboration

Liam Brunham 1 collaboration

Alberico L Catapano 1 collaboration

Kristyna Cillíková 1 collaboration

Pablo Corral 1 collaboration

Regina Cuevas 1 collaboration

Olivier S Descamps 1 collaboration

Sarah de Ferranti 1 collaboration

Jean-Luc Eiselé 1 collaboration

Gerardo Elikir 1 collaboration

Emanuela Folco 1 collaboration

Tomas Freiberger 1 collaboration

Francesco Fuggetta 1 collaboration

Isabel M Gaspar 1 collaboration

Ákos G Gesztes 1 collaboration

Urh Grošelj 1 collaboration

Ian Hamilton-Craig 1 collaboration

Gabriele Hanauer-Mader 1 collaboration

Mariko Harada-Shiba 1 collaboration

Gloria Hastings 1 collaboration

Maria C Izar 1 collaboration

Allison Jamison 1 collaboration

Gunnar N Karlsson 1 collaboration

Meral Kayikçioglu 1 collaboration

Sue Koob 1 collaboration

Masahiro Koseki 1 collaboration

Stacey Lane 1 collaboration

Marcos M Lima-Martinez 1 collaboration

Greizy López 1 collaboration

Tania L Martinez 1 collaboration

David Marais 1 collaboration

Letrillart Marion 1 collaboration

Pedro Mata 1 collaboration

Inese Maurina 1 collaboration

Diana Maxwell 1 collaboration

Roopa Mehta 1 collaboration

George A Mensah 1 collaboration

André R Miserez 1 collaboration

Dermot Neely 1 collaboration

Stephen J Nicholls 1 collaboration

Atsushi Nohara 1 collaboration

Børge G Nordestgaard 1 collaboration

Leiv Ose 1 collaboration

Athanasios Pallidis 1 collaboration

Jing Pang 1 collaboration

Jules Payne 1 collaboration

Amy L Peterson 1 collaboration

Monica P Popescu 1 collaboration

Raman Puri 1 collaboration

Kausik K Ray 1 collaboration

Ashraf Reda 1 collaboration

Tiziana Sampietro 1 collaboration

Raul D Santos 1 collaboration

Inge Schalkers 1 collaboration

Laura Schreier 1 collaboration

Michael D Shapiro 1 collaboration

Eric Sijbrands 1 collaboration

Daniel Soffer 1 collaboration

Claudia Stefanutti 1 collaboration

Mario Stoll 1 collaboration

Rody G Sy 1 collaboration

Martha L Tamayo 1 collaboration

Myra K Tilney 1 collaboration

Lale Tokgözoglu 1 collaboration

Brian Tomlinson 1 collaboration

Antonio J Vallejo-Vaz 1 collaboration

Alejandra Vazquez-Cárdenas 1 collaboration

Patrícia Vieira de Luca 1 collaboration

David S Wald 1 collaboration

Gerald F Watts 1 collaboration

Nanette K Wenger 1 collaboration

Michaela Wolf 1 collaboration

David Wood 1 collaboration

Aram Zegerius 1 collaboration

Thomas A Gaziano 1 collaboration

Samuel S Gidding 1 collaboration

Ilse K Luirink 1 collaboration

Marjet J A M Braamskamp 1 collaboration

Barbara Sjouke 1 collaboration

Linda C Zuurbier 1 collaboration

Arjen J Cupido 1 collaboration

Amand F Schmidt 1 collaboration

M Doortje Reijman 1 collaboration

Anja Schweizer 1 collaboration

Amy L H Peterson 1 collaboration

Eric Bruckert 1 collaboration

Christian Stratz 1 collaboration

Robert A Hegele 1 collaboration