J.C. Defesche MEng PhD publications

2020

• Reeskamp Laurens F., Volta Andrea, Zuurbier Linda, Defesche Joep C., Hovingh G. Kees, Grefhorst Aldo ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia Journal of clinical lipidology 2020;14 (2):207-217.e7 [PubMed]
• Defesche Joep C., Stefanutti Claudia, Langslet Gisle, Hopkins Paul N., Seiz Werner, Baccara-Dinet Marie T., Hamon Sara C., Banerjee Poulabi, Kastelein John J. P. Corrigendum to “Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia” J Clin Lipidol 11 (2017) 1338-1346 (Journal of Clinical Lipidology (2017) 11(6) (1338–1346.e7), (S1933287417304415), (10.1016/j.jacl.2017.08.016)) Journal of clinical lipidology 2020;14 (5):742 [PubMed]
• Reeskamp Laurens F., Venema Andrea, Pereira Joao P. Belo, Levin Evgeni, Nieuwdorp Max, Groen Albert K., Defesche Joep C., Grefhorst Aldo, Henneman Peter, Hovingh G. Kees Differential DNA methylation in familial hypercholesterolemia EBioMedicine 2020;61 [PubMed]
• Reeskamp Laurens F., Tromp Tycho R., Defesche Joep C., Grefhorst Aldo, Stroes Erik S. G., Hovingh G. Kees, Zuurbier Linda Next-generation sequencing to confirm clinical familial hypercholesterolemia European journal of preventive cardiology 2020 [PubMed]
• Wilemon Katherine A., Patel Jasmine, Aguilar-Salinas Carlos, Ahmed Catherine D., Alkhnifsawi Mutaz, Almahmeed Wael, Alonso Rodrigo, Al-Rasadi Khalid, Badimon Lina, Bernal Luz M., Bogsrud Martin P., Braun Lynne T., Brunham Liam, Catapano Alberico L., Čillíková Kristyna, Corral Pablo, Cuevas Regina, Defesche Joep C., Descamps Olivier S., de Ferranti Sarah, Eiselé Jean-Luc, Elikir Gerardo, Folco Emanuela, Freiberger Tomas, Fuggetta Francesco, Gaspar Isabel M., Gesztes Ákos G., Grošelj Urh, Hamilton-Craig Ian, Hanauer-Mader Gabriele, Harada-Shiba Mariko, Hastings Gloria, Hovingh G. Kees, Izar Maria C., Jamison Allison, Karlsson Gunnar N., Kayikçioǧlu Meral, Koob Sue, Koseki Masahiro, Lane Stacey, Lima-Martinez Marcos M., López Greizy, Martinez Tania L., Marais David, Marion Letrillart, Mata Pedro, Maurina Inese, Maxwell Diana, Mehta Roopa, Mensah George A., Miserez André R., Neely Dermot, Nicholls Stephen J., Nohara Atsushi, Nordestgaard B. rge G., Ose Leiv, Pallidis Athanasios, Pang Jing, Payne Jules, Peterson Amy L., Popescu Monica P., Puri Raman, Ray Kausik K., Reda Ashraf, Sampietro Tiziana, Santos Raul D., Schalkers Inge, Schreier Laura, Shapiro Michael D., Sijbrands Eric, Soffer Daniel, Stefanutti Claudia, Stoll Mario, Sy Rody G., Tamayo Martha L., Tilney Myra K., Tokgözoǧlu Lale, Tomlinson Brian, Vallejo-Vaz Antonio J., Vazquez-Cárdenas Alejandra, de Luca Patrícia Vieira, Wald David S., Watts Gerald F., Wenger Nanette K., Wolf Michaela, Wood David, Zegerius Aram, Gaziano Thomas A., Gidding Samuel S. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action JAMA cardiology 2020;5 (2):217-229 [PubMed]

2019

• Aers Xavier-Philippe, Leroy Bart P., Defesche Joep C., Shadid Samyah Abetalipoproteinemia from previously unreported gene mutations Annals of internal medicine 2019;170 (3):211-213 [PubMed]
• Luirink Ilse K., Braamskamp Marjet J. A. M., Wiegman Albert, Hartgers Merel L., Sjouke Barbara, Defesche Joep C., Hovingh G. Kees 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 2019;13 (2):272-278 [PubMed]

2018

• Reeskamp Laurens F., Hartgers Merel L., Peter Jorge, Dallinga-Thie Geesje M., Zuurbier Linda, Defesche Joep C., Grefhorst Aldo, Hovingh G. Kees A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia Circulation. Genomic and precision medicine 2018;11 (12):e002385 [PubMed]
• Hartgers Merel L., Defesche Joep C., Langslet Gisle, Hopkins Paul N., Kastelein John J. P., Baccara-Dinet Marie T., Seiz Werner, Hamon Sara, Banerjee Poulabi, Stefanutti Claudia Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia Journal of clinical lipidology 2018;12 (2):390-396.e8 [PubMed]
• Sturm Amy C., Knowles Joshua W., Gidding Samuel S., Ahmad Zahid S., Ahmed Catherine D., Ballantyne Christie M., Baum Seth J., Bourbon Mafalda, Carrié Alain, Cuchel Marina, de Ferranti Sarah D., Defesche Joep C., Freiberger Tomas, Hershberger Ray E., Hovingh G. Kees, Karayan Lala, Kastelein Johannes Jacob Pieter, Kindt Iris, Lane Stacey R., Leigh Sarah E., Linton MacRae F., Mata Pedro, Neal William A., Nordestgaard B. rge G., Santos Raul D., Harada-Shiba Mariko, Sijbrands Eric J., Stitziel Nathan O., Yamashita Shizuya, Wilemon Katherine A., Ledbetter David H., Rader Daniel J. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel Journal of the American College of Cardiology 2018;72 (6):662-680 [PubMed]
• Iacocca Michael A., Chora Joana R., Carrié Alain, Freiberger Tomáš, Leigh Sarah E., Defesche Joep C., Kurtz C. Lisa, DiStefano Marina T., Santos Raul D., Humphries Steve E., Mata Pedro, Jannes Cinthia E., Hooper Amanda J., Wilemon Katherine A., Benlian Pascale, O'Connor Robert, Garcia John, Wand Hannah, Tichy Lukáš, Sijbrands Eric J., Hegele Robert A., Bourbon Mafalda, Knowles Joshua W. ClinVar database of global familial hypercholesterolemia-associated DNA variants Human mutation 2018;39 (11):1631-1640 [PubMed]

2017

• Louter Leonora, Defesche Joep, Roeters van Lennep Jeanine Cascade screening for familial hypercholesterolemia: Practical consequences Atherosclerosis. Supplements 2017;30:77-85 [PubMed]
• Defesche Joep C., Stefanutti Claudia, Langslet Gisle, Hopkins Paul N., Seiz Werner, Baccara-Dinet Marie T., Hamon Sara C., Banerjee Poulabi, Kastelein John J. P. Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia Journal of clinical lipidology 2017;11 (6):1338-1346 [PubMed]
• Defesche Joep C., Gidding Samuel S., Harada-Shiba Mariko, Hegele Robert A., Santos Raul D., Wierzbicki Anthony S. Familial hypercholesterolaemia Nature reviews. Disease primers 2017;3:17093 [PubMed]
• Sjouke Barbara, Yahya Reyhana, Tanck Michael W. T., Defesche Joep C., de Graaf Jacqueline, Wiegman Albert, Kastelein John J. P., Mulder Monique T., Hovingh G. Kees, Roeters van Lennep Jeanine E. Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia Journal of clinical lipidology 2017;11 (2):507-514 [PubMed]

2016

• Sjouke Barbara, Tanck Michael W. T., Fouchier Sigrid W., Defesche Joep C., Hutten Barbara A., Wiegman Albert, Kastelein John J. P., Hovingh G. Kees Children with hypercholesterolemia of unknown cause: Value of genetic risk scores Journal of clinical lipidology 2016;10 (4):851-859 [PubMed]
• Santos Raul D., Gidding Samuel S., Hegele Robert A., Cuchel Marina A., Barter Philip J., Watts Gerald F., Baum Seth J., Catapano Alberico L., Chapman M. John, Defesche Joep C., Folco Emanuela, Freiberger Tomas, Genest Jacques, Hovingh G. Kees, Harada-Shiba Mariko, Humphries Steve E., Jackson Ann S., Mata Pedro, Moriarty Patrick M., Raal Frederick J., Al-Rasadi Khalid, Ray Kausik K., Reiner Zelijko, Sijbrands Eric J. G., Yamashita Shizuya Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel Lancet. Diabetes and endocrinology 2016;4 (10):850-861 [PubMed]
• Sjouke Barbara, Defesche Joep C., Hartgers Merel L., Wiegman Albert, Roeters van Lennep Jeanine E., Kastelein John J., Hovingh G. Kees Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease Journal of clinical lipidology 2016;10 (6):1462-1469 [PubMed]
• Sjouke Barbara, Defesche Joep C., de Randamie Janine S. E., Wiegman Albert, Fouchier Sigrid W., Hovingh G. Kees Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia Atherosclerosis 2016;251:263-265 [PubMed]
• Khoo Kah Lin, Page Michael M., Liew Yin Mei, Defesche Joep C., Watts Gerald F. Ten years of lipoprotein apheresis for familial hypercholesterolemia in Malaysia: A creative approach by a cardiologist in a developing country Journal of clinical lipidology 2016;10 (5):1188-1194 [PubMed]

2015

• Besseling Joost, Kastelein John J. P., Defesche Joep C., Hutten Barbara A., Hovingh G. Kees Association Between Familial Hypercholesterolemia and Prevalence of Type 2 Diabetes Mellitus JAMA 2015;313 (10):1029-1036 [PubMed]
• Hopkins Paul N., Defesche Joep, Fouchier Sigrid W., Bruckert Eric, Luc Gérald, Cariou Bertrand, Sjouke Barbara, Leren Trond P., Harada-Shiba Mariko, Mabuchi Hiroshi, Rabès Jean-Pierre, Carrié Alain, van Heyningen Charles, Carreau Valérie, Farnier Michel, Teoh Yee P., Bourbon Mafalda, Kawashiri Masa-Aki, Nohara Atsushi, Soran Handrean, Marais A. David, Tada Hayato, Abifadel Marianne, Boileau Catherine, Chanu Bernard, Katsuda Shoji, Kishimoto Ichiro, Lambert Gilles, Makino Hisashi, Miyamoto Yoshihiro, Pichelin Matthieu, Yagi Kunimasa, Yamagishi Masakazu, Zair Yassine, Mellis Scott, Yancopoulos George D., Stahl Neil, Mendoza Johanna, Du Yunling, Hamon Sara, Krempf Michel, Swergold Gary D. Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody Circulation. Cardiovascular genetics 2015;8 (6):823-831 [PubMed]
• Fouchier Sigrid W., Hutten Barbara A., Defesche Joep C. Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement Journal of medical genetics 2015;52 (2):80-84 [PubMed]
• Wiegman Albert, Gidding Samuel S., Watts Gerald F., Chapman M. John, Ginsberg Henry N., Cuchel Marina, Ose Leiv, Averna Maurizio, Boileau Catherine, Borén Jan, Bruckert Eric, Catapano Alberico L., Defesche Joep C., Descamps Olivier S., Hegele Robert A., Hovingh G. Kees, Humphries Steve E., Kovanen Petri T., Kuivenhoven Jan Albert, Masana Luis, Nordestgaard Børge G., Pajukanta Päivi, Parhofer Klaus G., Raal Frederick J., Ray Kausik K., Santos Raul D., Stalenhoef Anton F. H., Steinhagen-Thiessen Elisabeth, Stroes Erik S., Taskinen Marja-Riitta, Tybjærg-Hansen Anne, Wiklund Olov Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment European heart journal 2015;36 (36):2425-2437 [PubMed]
• Cuchel Marina, Bruckert Eric, Ginsberg Henry N., Raal Frederick J., Santos Raul D., Hegele Robert A., Kuivenhoven Jan Albert, Nordestgaard Børge G., Descamps Olivier S., Steinhagen-Thiessen Elisabeth, Tybjaerg-Hansen Anne, Watts Gerald F., Averna Maurizio, Boileau Catherine, Borén Jan, Catapano Alberico L., Defesche Joep C., Hovingh G. Kees, Humphries Steve E., Kovanen Petri T., Masana Luis, Pajukanta Päivi, Parhofer Klaus G., Ray Kausik K., Stalenhoef Anton F. H., Stroes Erik, Taskinen Marja-Riitta, Wiegman Albert, Wiklund Olov, Chapman M. John, Bore'n Jan Homozigot ailevi hiperkolesterolemi: klinisyenlerin taniyi ve klinik yönetimi geliştirmelerine yönelik yeni anlayişlar ve rehberlik. Avrupa Ateroskleroz Derneği'nin Ailevi Hiperkolesterolemi Üzerine Uzlaşi Paneli yazili görüşü Türk Kardiyoloji Derneği arşivi 2015;43 (Suppl. 1):1-14 [PubMed]
• Sjouke Barbara, Kusters D. Meeike, Kindt Iris, Besseling Joost, Defesche Joep C., Sijbrands Eric J. G., Roeters van Lennep Jeanine E., Stalenhoef Anton F. H., Wiegman Albert, de Graaf Jacqueline, Fouchier Sigrid W., Kastelein John J. P., Hovingh G. Kees Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome European heart journal 2015;36 (9):560-565 [PubMed]
• Versmissen Jorie, Oosterveer Daniëlla M., Yazdanpanah Mojgan, Dehghan Abbas, Hólm Hilma, Erdman Jeanette, Aulchenko Yurii S., Thorleifsson Gudmar, Schunkert Heribert, Huijgen Roeland, Vongpromek Ranitha, Uitterlinden André G., Defesche Joep C., van Duijn Cornelia M., Mulder Monique, Dadd Tony, Karlsson Hróbjartur D., Ordovas Jose, Kindt Iris, Jarman Amelia, Hofman Albert, van Vark-van der Zee Leonie, Blommesteijn-Touw Adriana C., Kwekkeboom Jaap, Liem Anho H., van der Ouderaa Frans J., Calandra Sebastiano, Bertolini Stefano, Averna Maurizio, Langslet Gisle, Ose Leiv, Ros Emilio, Almagro Fátima, de Leeuw Peter W., Civeira Fernando, Masana Luis, Pintó Xavier, Simoons Maarten L., Schinkel Arend F. L., Green Martin R., Zwinderman Aeilko H., Johnson Keith J., Schaefer Arne, Neil Andrew, Witteman Jacqueline C. M., Humphries Steve E., Kastelein John J. P., Sijbrands Eric J. G. Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach European journal of human genetics 2015;23 (3):381-387 [PubMed]
• Watts Gerald F., Gidding Samuel, Wierzbicki Anthony S., Toth Peter P., Alonso Rodrigo, Brown W. Virgil, Bruckert Eric, Defesche Joep, Lin Khoo Kah, Livingston Michael, Mata Pedro, Parhofer Klaus G., Raal Frederick J., Santos Raul D., Sijbrands Eric J. G., Simpson William G., Sullivan David R., Susekov Andrey V., Tomlinson Brian, Wiegman Albert, Yamashita Shizuya, Kastelein John J. P. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation European journal of preventive cardiology 2015;22 (7):849-854 [PubMed]
• Futema Marta, Shah Sonia, Cooper Jackie A., Li KaWah, Whittall Ros A., Sharifi Mahtab, Goldberg Olivia, Drogari Euridiki, Mollaki Vasiliki, Wiegman Albert, Defesche Joep, D'Agostino Maria N., D'Angelo Antonietta, Rubba Paolo, Fortunato Giuliana, Waluś-Miarka Małgorzata, Hegele Robert A., Aderayo Bamimore Mary, Durst Ronen, Leitersdorf Eran, Mulder Monique T., Roeters van Lennep Jeanine E., Sijbrands Eric J. G., Whittaker John C., Talmud Philippa J., Humphries Steve E. Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries Clinical chemistry 2015;61 (1):231-238 [PubMed]
• Gidding Samuel S., Ann Champagne Mary, de Ferranti Sarah D., Defesche Joep, Ito Matthew K., Knowles Joshua W., McCrindle Brian, Raal Frederick, Rader Daniel, Santos Raul D., Lopes-Virella Maria, Watts Gerald F., Wierzbicki Anthony S. The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association Circulation 2015;132 (22):2167-2192 [PubMed]

2014

• Cuchel Marina, Bruckert Eric, Ginsberg Henry N., Raal Frederick J., Santos Raul D., Hegele Robert A., Kuivenhoven Jan Albert, Nordestgaard Børge G., Descamps Olivier S., Steinhagen-Thiessen Elisabeth, Tybjærg-Hansen Anne, Watts Gerald F., Averna Maurizio, Boileau Catherine, Borén Jan, Catapano Alberico L., Defesche Joep C., Hovingh G. Kees, Humphries Steve E., Kovanen Petri T., Masana Luis, Pajukanta Päivi, Parhofer Klaus G., Ray Kausik K., Stalenhoef Anton F. H., Stroes Erik, Taskinen Marja-Riitta, Wiegman Albert, Wiklund Olov, Chapman M. John Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society European heart journal 2014;35 (32):2146-2157 [PubMed]
• Watts Gerald F., Gidding Samuel, Wierzbicki Anthony S., Toth Peter P., Alonso Rodrigo, Brown W. Virgil, Bruckert Eric, Defesche Joep, Lin Khoo Kah, Livingston Michael, Mata Pedro, Parhofer Klaus G., Raal Frederick J., Santos Raul D., Sijbrands Eric J. G., Simpson William G., Sullivan David R., Susekov Andrey V., Tomlinson Brian, Wiegman Albert, Yamashita Shizuya, Kastelein John J. P. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation International journal of cardiology 2014;171 (3):309-325 [PubMed]
• Watts Gerald F., Gidding Samuel, Wierzbicki Anthony S., Toth Peter P., Alonso Rodrigo, Brown W. Virgil, Bruckert Eric, Defesche Joep, Lin Khoo Kah, Livingston Michael, Mata Pedro, Parhofer Klaus G., Raal Frederick J., Santos Raul D., Sijbrands Eric J. G., Simpson William G., Sullivan David R., Susekov Andrey V., Tomlinson Brian, Wiegman Albert, Yamashita Shizuya, Kastelein John J. P. Integrated Guidance on the Care of Familial Hypercholesterolaemia from the International FH Foundation: Executive Summary Journal of atherosclerosis and thrombosis 2014;21 (4):368-374 [PubMed]
• Watts Gerald F., Gidding Samuel, Wierzbicki Anthony S., Toth Peter P., Alonso Rodrigo, Brown W. Virgil, Bruckert Eric, Defesche Joep, Lin Khoo Kah, Livingston Michael, Mata Pedro, Parhofer Klaus G., Raal Frederick J., Santos Raul D., Sijbrands Eric J. G., Simpson William G., Sullivan David R., Susekov Andrey V., Tomlinson Brian, Wiegman Albert, Yamashita Shizuya, Kastelein John J. P. Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation Journal of clinical lipidology 2014;8 (2):148-172 [PubMed]
• Fouchier Sigrid W., Dallinga-Thie Geesje M., Meijers Joost C. M., Zelcer Noam, Kastelein John J. P., Defesche Joep C., Hovingh G. Kees Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia Circulation research 2014;115 (6):552-555 [PubMed]

2013

• Stef Marianne A., Palacios Lourdes, Olano-Martín Estibaliz, Foe-A-Man Carolyn, van de Kerkhof Laura, Klaaijsen Lisette N., Molano Araitz, Schuurman Ellen J., Tejedor Diego, Defesche Joep C. A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe Journal of molecular diagnostics 2013;15 (3):362-372 [PubMed]
• Stitziel Nathan O., Fouchier Sigrid W., Sjouke Barbara, Peloso Gina M., Moscoso Alessa M., Auer Paul L., Goel Anuj, Gigante Bruna, Barnes Timothy A., Melander Olle, Orho-Melander Marju, Duga Stefano, Sivapalaratnam Suthesh, Nikpay Majid, Martinelli Nicola, Girelli Domenico, Jackson Rebecca D., Kooperberg Charles, Lange Leslie A., Ardissino Diego, McPherson Ruth, Farrall Martin, Watkins Hugh, Reilly Muredach P., Rader Daniel J., de Faire Ulf, Schunkert Heribert, Erdmann Jeanette, Samani Nilesh J., Charnas Lawrence, Altshuler David, Gabriel Stacey, Kastelein John J. P., Defesche Joep C., Nederveen Aart J., Kathiresan Sekar, Hovingh G. Kees Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia Arteriosclerosis, thrombosis, and vascular biology 2013;33 (12):2909-2914 [PubMed]
• Nordestgaard Børge G., Chapman M. John, Humphries Steve E., Ginsberg Henry N., Masana Luis, Descamps Olivier S., Wiklund Olov, Hegele Robert A., Raal Frederick J., Defesche Joep C., Wiegman Albert, Santos Raul D., Watts Gerald F., Parhofer Klaus G., Hovingh G. Kees, Kovanen Petri T., Boileau Catherine, Averna Maurizio, Borén Jan, Bruckert Eric, Catapano Alberico L., Kuivenhoven Jan Albert, Pajukanta Päivi, Ray Kausik, Stalenhoef Anton F. H., Stroes Erik, Taskinen Marja-Riitta, Tybjærg-Hansen Anne Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society European heart journal 2013;34 (45):3478-390a [PubMed]
• Sorrentino Vincenzo, Fouchier Sigrid W., Motazacker Mohammad M., Nelson Jessica K., Defesche Joep C., Dallinga-Thie Geesje M., Kastelein John J. P., Kees Hovingh G., Zelcer Noam Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein European heart journal 2013;34 (17):1292-1297 [PubMed]
• Oosterveer Daniëlla M., Versmissen Jorie, Defesche Joep C., Sivapalaratnam Suthesh, Yazdanpanah Mojgan, Mulder Monique, van der Zee Leonie, Uitterlinden André G., van Duijn Cornelia M., Hofman Albert, Kastelein John J. P., Aulchenko Yurii S., Sijbrands Eric J. G. Low-density lipoprotein receptor mutations generate synthetic genome-wide associations European journal of human genetics 2013;21 (5):563-566 [PubMed]
• Fouchier Sigrid W., Defesche Joep C. Lysosomal acid lipase A and the hypercholesterolaemic phenotype Current opinion in lipidology 2013;24 (4):332-338 [PubMed]

2012

• Motazacker Mohammad Mahdi, Pirruccello James, Huijgen Roeland, Do Ron, Gabriel Stacey, Peter Jorge, Kuivenhoven Jan Albert, Defesche Joep C., Kastelein John J. P., Hovingh G. Kees, Zelcer Noam, Kathiresan Sekar, Fouchier Sigrid W. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia European heart journal 2012;33 (11):1360-1366 [PubMed]
• Visser M. E., Dallinga-Thie G. M., Pinto-Sietsma S. J., Defesche J. C., Stroes E. S., van der Valk P. R. APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required Netherlands journal of medicine 2012;70 (6):278-280 [PubMed]
• Huijgen Roeland, Kindt Iris, Defesche Joep C., Kastelein John J. P. Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants European heart journal 2012;33 (18):2325-2330 [PubMed]
• Huijgen R., Stork A. D. M., Defesche J. C., Peter J., Alonso R., Cuevas A., Kastelein J. J. P., Duran M., Stroes E. S. G. Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis Clinical genetics 2012;81 (1):24-28 [PubMed]
• Huijgen Roeland, Sjouke Barbara, Vis Kelly, de Randamie Janine S. E., Defesche Joep C., Kastelein John J. P., Hovingh G. Kees, Fouchier Sigrid W. Genetic Variation in APOB, PCSK9, and ANGPTL3 in Carriers of Pathogenic Autosomal Dominant Hypercholesterolemic Mutations with Unexpected Low LDL-C Levels Human mutation 2012;33 (2):448-455 [PubMed]
• Surendran R. P., Visser M. E., Heemelaar S., Wang J., Peter J., Defesche J. C., Kuivenhoven J. A., Hosseini M., Péterfy M., Kastelein J. J. P., Johansen C. T., Hegele R. A., Stroes E. S. G., Dallinga-Thie G. M. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia Journal of internal medicine 2012;272 (2):185-196 [PubMed]
• Versmissen Jorie, Oosterveer Daniëlla M., Blommesteijn-Touw Adriana C., van Vark-van der Zee Leonie, Vongpromek Ranitha, Mulder Monique, Sijbrands Eric J. G., Hoekstra Menno, Out Ruud, Berbée Jimmy F. P., Vanmierlo Tim, Defesche Joep C., Kastelein John J. P. Response to the Letter by Singh et al Regarding "Apolipoprotein Isoform E4 Does Not Increase Coronary Heart Disease Risk in Carriers of Low-Density Lipoprotein Receptor Mutations" Circulation. Cardiovascular genetics 2012;5 (2):E14 [PubMed]

2011

• Versmissen Jorie, Oosterveer Daniëlla M., Yazdanpanah Mojgan, Mulder Monique, Dehghan Abbas, Defesche Joep C., Kastelein John J. P., Sijbrands Eric J. G. A frequent variant in the ABCA1 gene is associated with increased coronary heart disease risk and a better response to statin treatment in familial hypercholesterolemia patients European heart journal 2011;32 (4):469-475 [PubMed]
• Versmissen Jorie, Oosterveer Daniëlla M., Hoekstra Menno, Out Ruud, Berbée Jimmy F. P., Blommesteijn-Touw Adriana C., van Vark-van der Zee Leonie, Vongpromek Ranitha, Vanmierlo Tim, Defesche Joep C., Mulder Monique, Kastelein John J. P., Sijbrands Eric J. G. Apolipoprotein isoform E4 does not increase coronary heart disease risk in carriers of low-density lipoprotein receptor mutations Circulation. Cardiovascular genetics 2011;4 (6):655-660 [PubMed]
• Kusters D. M., Huijgen R., Defesche J. C., Vissers M. N., Kindt I., Hutten B. A., Kastelein J. J. P. Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes Netherlands heart journal 2011;19 (4):175-182 [PubMed]
• Holleboom Adriaan G., Kuivenhoven Jan A., Peelman Frank, Schimmel Alinda W., Peter Jorge, Defesche Joep C., Kastelein John J. P., Hovingh G. Kees, Stroes Erik S., Motazacker Mohammad Mahdi High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations Human mutation 2011;32 (11):1290-1298 [PubMed]
• Alipour Arash, Cabezas Manuel Castro, Elte Jan Willem F., Vallvé Joan-Carles, Ribalta Josep, Zwinderman Aeilko H., Defesche Joep C., Jukema J. Wouter Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin Atherosclerosis 2011;215 (1):125-129 [PubMed]
• Versmissen Jorie, Botden Ilse P. G., Huijgen Roeland, Oosterveer Daniëlla M., Defesche Joep C., Heil Thea C., Muntz Anouk, Langendonk Janneke G., Schinkel Arend F. L., Kastelein John J. P., Sijbrands Eric J. G. Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality Atherosclerosis 2011;219 (2):690-693 [PubMed]
• van der Graaf Anouk, Avis Hans J., Kusters D. Meeike, Vissers Maud N., Hutten Barbara A., Defesche Joep C., Huijgen Roeland, Fouchier Sigrid W., Wijburg Frits A., Kastelein John J. P., Wiegman Albert Molecular Basis of Autosomal Dominant Hypercholesterolemia Assessment in a Large Cohort of Hypercholesterolemic Children Circulation 2011;123 (11):1167-1173 [PubMed]
• Holleboom A. G., Kuivenhoven J. A., van Olden C. C., Peter J., Schimmel A. W., Levels J. H., Valentijn R. M., Vos P., Defesche J. C., Kastelein J. J. P., Hovingh G. K., Stroes E. S. G., Hollak C. E. M. Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase Atherosclerosis 2011;216 (1):161-165 [PubMed]

2010

• Defesche Joep C. Defining the challenges of FH screening for familial hypercholesterolemia Journal of clinical lipidology 2010;4 (5):338-341 [PubMed]
• Huijgen Roeland, Kindt Iris, Fouchier Sigrid W., Defesche Joep C., Hutten Barbara A., Kastelein John J. P., Vissers Maud N. Functionality of Sequence Variants in the Genes Coding for the Low-Density Lipoprotein Receptor and Apolipoprotein B in Individuals with Inherited Hypercholesterolemia Human mutation 2010;31 (6):752-760 [PubMed]
• Chmara M., Wasag B., Zuk M., Kubalska J., Wegrzyn A., Bednarska-Makaruk M., Pronicka E., Wehr H., Defesche J. C., Rynkiewicz A., Limon J. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations Journal of applied genetics 2010;51 (1):95-106 [PubMed]
• Oosterveer Daniëlla M., Versmissen Jorie, Yazdanpanah Mojgan, Defesche Joep C., Kastelein John J. P., Sijbrands Eric J. G. The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway European heart journal 2010;31 (8):1007-1012 [PubMed]

2009

• Oosterveer Daniëlla M., Versmissen Jorie, Yazdanpanah Mojgan, van der Net Jeroen B., Defesche Joep C., Kastelein John J. P., Sijbrands Eric J. G. 5-Lipoxygenase activating protein (ALOX5AP) gene variants associate with the presence of xanthomas in familial hypercholesterolemia Atherosclerosis 2009;206 (1):223-227 [PubMed]
• van der Net Jeroen B., Versmissen Jorie, Oosterveer Daniëlla M., Defesche Joep C., Yazdanpanah Mojgan, Aouizerat Bradley E., Steyerberg Ewout W., Malloy Mary J., Pullinger Clive R., Kane John P., Kastelein John J. P., Sijbrands Eric J. G. Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia Atherosclerosis 2009;203 (2):472-478 [PubMed]
• Koeijvoets Kristel C. M. C., Mooijaart Simon P., Dallinga-Thie Geesje M., Defesche Joep C., Steyerberg Ewout W., Westendorp Rudi G. J., Kastelein John J. P., van Hagen P. Martin, Sijbrands Eric J. G. Complement factor H Y402H decreases cardiovascular disease risk in patients with familial hypercholesterolaemia European heart journal 2009;30 (5):618-623 [PubMed]
• Holla Øystein L., Nakken Sigve, Mattingsdal Morten, Ranheim Trine, Berge Knut Erik, Defesche Joep C., Leren Trond P. Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses Molecular genetics and metabolism 2009;96 (4):245-252 [PubMed]
• Alonso Rodrigo, Defesche Joep C., Tejedor Diego, Castillo Sergio, Stef Marianne, Mata Nelva, Gomez-Enterria Pilar, Martinez-Faedo Ceferino, Forga Lluis, Mata Pedro Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform Clinical biochemistry 2009;42 (9):899-903 [PubMed]
• van der Net Jeroen B., Janssens A. Cecile J. W., Defesche Joep C., Kastelein John J. P., Sijbrands Eric J. G., Steyerberg Ewout W. Usefulness of Genetic Polymorphisms and Conventional Risk Factors to Predict Coronary Heart Disease in Patients With Familial Hypercholesterolemia American journal of cardiology 2009;103 (3):375-380 [PubMed]

2008

• Kubalska Jolanta, Chmara Magdalena, Limon Janusz, Wierzbicka Aldona, Prokurat Sylwester, Szaplyko Janina, Kowalik Agnieszka, Mierzewska Hanna, Defesche Joep C., Pronicka Ewa Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene Journal of applied genetics 2008;49 (1):109-113 [PubMed]
• Versmissen Jorie, Oosterveer Daniëlla M., Yazdanpanah Mojgan, Defesche Joep C., Basart Dick C. G., Liem Anho H., Heeringa Jan, Witteman Jacqueline C., Lansberg Peter J., Kastelein John J. P., Sijbrands Eric J. G. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study BMJ (Clinical research ed.) 2008;337:a2423 [PubMed]
• van der Graaf Anouk, Touchier Sigrid W., Vissers Maud N., Defesche Joep C., Wiegman Albert, Sankatsing Raaj R., Hutten Barbara A., Trip Mieke D., Kastelein John J. P. Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: Two neutralizing mutations Annals of internal medicine 2008;148 (9):712-714 [PubMed]
• Huijgen Roeland, Vissers Maud N., Defesche Joep C., Lansberg Peter J., Kastelein John J. P., Hutten Barbara A. Familial hypercholesterolemia: current treatment and advances in management Expert review of cardiovascular therapy 2008;6 (4):567-581 [PubMed]
• van der Net Jeroen B., van Etten Jeroen, Yazdanpanah Mojgan, Dallinga-Thie Geesje M., Kastelein John J. P., Defesche Joep C., Koopmans Richard P., Steyerberg Ewout W., Sijbrands Eric J. G. Gene-load score of the renin-angiotensin-aldosterone system is associated with coronary heart disease in familial hypercholesterolaemia European heart journal 2008;29 (11):1370-1376 [PubMed]
• van der Net Jeroen B., Isaacs Aaron, Dallinga-Thie Geesje M., Kastelein John J. P., Defesche Joep C., Steyerberg Ewout W., Sijbrands Eric J. G. Haplotype of the angiotensinogen gene is associated with coronary heart disease in familial hypercholesterolemia Journal of hypertension 2008;26 (3):462-467 [PubMed]
• Liyanage Khemanganee E., Hooper Amanda J., Defesche Joep C., Burnett John R., van Bockxmeer Frank M. High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations Annals of clinical biochemistry 2008;45 (Part 2):170-176 [PubMed]
• Kolansky Daniel M., Cuchel Marina, Clark Bernard J., Paridon Steve, McCrindle Brian W., Wiegers Susan E., Araujo Luis, Vohra Yogesh, Defesche Joep C., Wilson James M., Rader Daniel J. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia American journal of cardiology 2008;102 (11):1438-1443 [PubMed]
• van der Net Jeroen B., Oosterveer Daniëlla M., Versmissen Jorie, Defesche Joep C., Yazdanpanah Mojgan, Aouizerat Bradley E., Steyerberg Ewout W., Malloy Mary J., Pullinger Clive R., Kastelein John J. P., Kane John P., Sijbrands Eric J. G. Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia European heart journal 2008;29 (18):2195-2201 [PubMed]
• Defesche J. C., Schuurman E. J. M., Klaaijsen L. N., Khoo K. L., Wiegman A., Stalenhoef A. F. H. Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing Clinical genetics 2008;73 (6):573-578 [PubMed]
• Koeijvoets Kristel C. M. C., van der Net Jeroen B., van Rossum Elisabeth F. C., Steyerberg Ewout W., Defesche Joep C., Kastelein John J. P., Lamberts Steven W. J., Sijbrands Eric J. G. Two Common Haplotypes of the Glucocorticoid Receptor Gene Are Associated with Increased Susceptibility to Cardiovascular Disease in Men with Familial Hypercholesterolemia Journal of clinical endocrinology and metabolism 2008;93 (12):4902-4908 [PubMed]

2007

• Souverein Olga W., Defesche Joep C., Zwinderman Aeilko H., Kastelein John J. P., Tanck Michael W. T. Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia European heart journal 2007;28 (3):299-304 [PubMed]

2006

• Koeijvoets Kristel C. M. C., van Rossum Elisabeth F. C., Dallinga-Thie Geesje M., Steyerberg Ewout W., Defesche Joep C., Kastelein John J. P., Lamberts Steven W. J., Sijbrands Eric J. G. A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemia Journal of clinical endocrinology and metabolism 2006;91 (10):4131-4136 [PubMed]
• van Aalst-Cohen Emily S., Jansen Angelique C. M., Tanck Michael W. T., Defesche Joep C., Trip Mieke D., Lansberg Peter J., Stalenhoef Anton F. H., Kastelein John J. P. Diagnosing familial hypercholesterolaemia: the relevance of genetic testing European heart journal 2006;27 (18):2240-2246 [PubMed]
• Nierman Melchior C., Peter Jorge, Khoo Kah-Lin, Defesche Joep C. Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations Journal of inherited metabolic disease 2006;29 (5):686 [PubMed]
• Durst R., Jansen A., Erez G., Bravdo R., Butbul E., Ben Avi L., Shpitzen S., Lotan C., Leitersdorf E., Defesche J., Friedlander Y., Meiner V., Miserez A. R. The discrete and combined effect of SREBP-2 and SCAP isoforms in the control of plasma lipids among familial hypercholesterolaemia patients Atherosclerosis 2006;189 (2):443-450 [PubMed]
• de Rooij Susanne R., Painter Rebecca C., Phillips David I. W., Osmond Clive, Tanck Michael W. T., Defesche Joep C., Bossuyt Patrick M. M., Michels Robert P. J., Bleker Otto P., Roseboom Tessa J. The effects of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma2 gene on glucose/insulin metabolism interact with prenatal exposure to famine Diabetes care 2006;29 (5):1052-1057 [PubMed]

2005

• Millar John S., Maugeais Cyrille, Ikewaki Katsunori, Kolansky Daniel M., Barrett P. Hugh R., Budreck Elaine C., Boston Raymond C., Tada Norio, Mochizuki Seibu, Defesche Joep C., Wilson James M., Rader Daniel J. Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production Arteriosclerosis, thrombosis, and vascular biology 2005;25 (3):560-565 [PubMed]
• Koeijvoets Kristel C. M. C., Wiegman Albert, Rodenburg Jessica, Defesche Joep C., Kastelein John J. P., Sijbrands Eric J. G. Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study Atherosclerosis 2005;180 (1):93-99 [PubMed]
• Jansen Angelique C. M., van Aalst-Cohen Emily S., Tanck Michael W. T., Cheng Suzanne, Fontecha Marcel R., Li Jia, Defesche Joep C., Kastelein John J. P. Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia Arteriosclerosis, thrombosis, and vascular biology 2005;25 (7):1475-1481 [PubMed]
• Fouchier S. W. Genetic determinants of cholesterol homeostasis 2005. 149p. ISBN 9789090193199. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Kastelein J. J. P.; Co-supervisor: Defesche J. C.)
• van Aalst-Cohen Emily S., Jansen Angelique C. M., Boekholdt S. Matthijs, Tanck Michael W. T., Fontecha Marcel R., Cheng Suzanne, Li Jia, Defesche Joep C., Kuivenhoven Jan Albert, Kastelein John J. P. Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia European journal of human genetics 2005;13 (10):1137-1142 [PubMed]
• Fouchier S. W., Sankatsing R. R., Peter J., Castillo S., Pocovi M., Alonso R., Kastelein J. J. P., Defesche J. C. High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent Journal of medical genetics 2005;42 (4):e23 [PubMed]
• Fouchier Sigrid W., Rodenburg Jessica, Defesche Joep C., Kastelein John J. P. Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia European journal of human genetics 2005;13 (12):1247-1253 [PubMed]
• Fouchier Sigrid W., Kastelein John J. P., Defesche Joep C. Update of the molecular basis of familial hypercholesterolemia in The Netherlands Human mutation 2005;26 (6):550-556 [PubMed]
• Kastelein John J. P., Fouchier Sigrid W., Defesche Joep C. What promise does PCSK9 hold? Journal of the American College of Cardiology 2005;45 (10):1620-1621 [PubMed]

2004

• Defesche Joep C., Lansberg Peter J., Umans-Eckenhausen Marina A. W., Kastelein John J. P. Advanced method for the identification of patients with inherited hypercholesterolemia Seminars in vascular medicine 2004;4 (1):59-65 [PubMed]
• Wonderling David, Umans-Eckenhausen Marina A. W., Marks Dalya, Defesche Joep C., Kastelein John J. P., Thorogood Margaret Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in the Netherlands Seminars in vascular medicine 2004;4 (1):97-104 [PubMed]
• Fouchier Sigrid W., Defesche Joep C., Kastelein John J. P., Sijbrands Eric J. G. Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk Seminars in vascular medicine 2004;4 (3):259-264 [PubMed]
• van Bellen A., Defesche J. C., Kastelein J. J. P., Wiegman A. Familial hypercholesterolemiain: Y. Poortman, R. Steegers, C. Kluft, editors. The increasing role of nutrition and genomics in the prevention and management of disease. S.l.: s.n.; 2004. p. hfst 6
• Civeira Fernando, Defesche J. C. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia Atherosclerosis 2004;173 (1):55-68 [PubMed]
• Defesche Joep C. Low-Density Lipoprotein receptor: its structure, function, and mutations Seminars in vascular medicine 2004;4 (1):5-13 [PubMed]

2003

• Hoogendijk C. F., Scholtz C. L., Pimstone S. M., Ehrenborg E., Kastelein J. J. P., Defesche J. C., Thiart R., du Plessis L., de Villiers J. N. P., Zaahl M. G., Delport R., Rubinsztein D. C., Raffel L. J., Grim C. E., Mediene-Benchekor S., Amouyel P., Brousseau T., Steyn K., Lombard C. J., Hayden M. R., Kotze M. J. Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element Molecular and cellular probes 2003;17 (4):175-181 [PubMed]
• Wiegman Albert, Rodenburg Jessica, de Jongh Saskia, Defesche Joep C., Bakker Henk D., Kastelein John J. P., Sijbrands Eric J. G. Family history and cardiovascular risk in familial hypercholesterolemia - Data in more than 1000 children Circulation 2003;107 (11):1473-1478 [PubMed]
• van de Kerkhof Laura, van Eijk Silvia J., Defesche Joep C., Dos-Santos José-Ernesto Identification of a new mutation, S305C, in Exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia Genetic testing 2003;7 (1):77-79 [PubMed]
• Umans-Eckenhausen Marina A. W., Defesche Joep C., van Dam Marjel J., Kastelein John J. P. Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia Archives of internal medicine 2003;163 (1):65-68 [PubMed]
• de Sauvage Nolting P. R. W., Defesche J. C., Buirma R. J. A., Hutten B. A., Lansberg P. J., Kastelein J. J. P. Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia Journal of internal medicine 2003;253 (2):161-168 [PubMed]
• Wiegman Albert, Sijbrands Eric J. G., Rodenburg Jessica, Defesche Joep C., de Jongh Saskia, Bakker Henk D., Kastelein John J. P. The apolipoprotein epsilon4 allele confers additional risk in children with familial hypercholesterolemia Pediatric research 2003;53 (6):1008-1012 [PubMed]

2002

• Umans-Eckenhausen M. A. W. Genetic insights, clinical efficacy and practical implications of genetic screening for familial hypercholesterolemia 2002. 165p. ISBN 9789051706574. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Büller H. R., Kastelein J. J. P.; Co-supervisor: Defesche J. C.)
• Umans-Eckenhausen Marina A. W., Sijbrands Eric J. G., Kastelein John J. P., Defesche Joep C. Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population Circulation 2002;106 (24):3031-3036 [PubMed]
• Umans-Eckenhausen M. A. W., Oort F. J., Ferenschild K. C. M. P., Defesche J. C., Kastelein J. J. P., de Haes J. C. J. M. Parental attitude towards genetic testing for familial hypercholesterolaemia in children Journal of medical genetics 2002;39 (9):e49 [PubMed]
• Jansen Angelique C. M., van Wissen Sanne, Defesche Joep C., Kastelein John J. P. Phenotypic variability in familial hypercholesterolaemia: an update Current opinion in lipidology 2002;13 (2):165-171 [PubMed]

2001

• Defesche J. C., Kastelein J. J. P. Lipoproteins and atherosclerosisin: P. A. Doevendans, A. A. Wilde, editors. Cardiovascular genetics. Dordrecht: Kluwer Academic Publishers; 2001. p. 51-58
• Doevendans P. A., Jukema W., Spiering W., Defesche J. C., Kastelein J. J. Molecular genetics and gene expression in atherosclerosis International journal of cardiology 2001;80 (2-3):161-172 [PubMed]
• Sijbrands E. J., Westendorp R. G., Defesche J. C., de Meier P. H., Smelt A. H., Kastelein J. J. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study BMJ (Clinical research ed.) 2001;322 (7293):1019-1023 [PubMed]
• Durst R., Colombo R., Shpitzen S., Avi L. B., Friedlander Y., Wexler R., Raal F. J., Marais D. A., Defesche J. C., Mandelshtam M. Y., Kotze M. J., Leitersdorf E., Meiner V. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews American journal of human genetics 2001;68 (5):1172-1188 [PubMed]
• ten Asbroek A. H., de Mheen P. J., Defesche J. C., Kastelein J. J., Gunning-Schepers L. J. Results from a family and DNA based active identification programme for familial hypercholesterolaemia Journal of epidemiology and community health 2001;55 (7):500-502 [PubMed]
• Umans-Eckenhausen M. A., Defesche J. C., Sijbrands E. J., Scheerder R. L., Kastelein J. J. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands Lancet 2001;357 (9251):165-168 [PubMed]
• Fouchier S. W., Defesche J. C., Umans-Eckenhausen M. W., Kastelein J. P. The molecular basis of familial hypercholesterolemia in The Netherlands Human genetics 2001;109 (6):602-615 [PubMed]

2000

• Khoo K. L., van Acker P., Defesche J. C., Tan H., van de Kerkhof L., Heijnen-van Eijk S. J., Kastelein J. J., Deslypere J. P. Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia Clinical genetics 2000;58 (2):98-105 [PubMed]
• Lombardi M. P., Redeker E. J., Defesche J. C., Kamerling S. W., Trip M. D., Mannens M. M., Havekes L. M., Kastelein J. J. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands Clinical genetics 2000;57 (2):116-124 [PubMed]
• Lansberg P. J., Tuzgöl S., van de Ree M. A., Defesche J. C., Kastelein J. J. Prevalentie van familiaire hypercholesterolemie onder volwassenen in vier huisartsenpraktijken hoger dan werd aangenomen Nederlands tijdschrift voor geneeskunde 2000;144 (30):1437-1440 [PubMed]

1999

• Wittekoek M. E., Moll E., Pimstone S. N., Trip M. D., Lansberg P. J., Defesche J. C., van Doormaal J. J., Hayden M. R., Kastelein J. J. A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia Arteriosclerosis, thrombosis, and vascular biology 1999;19 (11):2708-2713 [PubMed]
• Yu L., Heere-Ress E., Boucher B., Defesche J. C., Kastelein J., Lavoie M. A., Genest J. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C] Atherosclerosis 1999;146 (1):125-131 [PubMed]
• Umans-Eckenhausen M. A., Defesche J. C., Scheerder R. L., Cliné F., Kastelein J. J. Opsporing van patiënten met familiaire hypercholesterolemie in Nederland Nederlands tijdschrift voor geneeskunde 1999;143 (22):1157-1161 [PubMed]

1998

• Wittekoek M. E., Pimstone S. N., Reymer P. W., Feuth L., Botma G. J., Defesche J. C., Prins M. [=Martin H.], Hayden M. R., Kastelein J. J. A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia Circulation 1998;97 (8):729-735 [PubMed]
• Defesche J. C., Kastelein J. J. Molecular epidemiology of familial hypercholesterolaemia Lancet 1998;352 (9141):1643-1644 [PubMed]

1997

• Lombardi P., Defesche J. C., Kamerling S. W., Kastelein J. J., Havekes L. M. A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia Clinical genetics 1997;51 (6):430-431 [PubMed]
• Lombardi P., Defesche J. C., Kamerling S. W., Kastelein J. J., Havekes L. M. A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia Clinical genetics 1997;51 (4):286-287 [PubMed]
• Pimstone S. N., Defesche J. C., Clee S. M., Bakker H. D., Hayden M. R., Kastelein J. J. Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia Arteriosclerosis, thrombosis, and vascular biology 1997;17 (5):826-833 [PubMed]
• Bakker H. D., Wiegman A., Defesche J. C., Kastelein J. J. Is opsporing en behandeling van familiaire hypercholesterolemie geïndiceerd bij kinderen? Nederlands tijdschrift voor geneeskunde 1997;141 (52):2548-2551 [PubMed]
• Hansen P. S., Defesche J. C., Kastelein J. J., Gerdes L. U., Fraza L., Gerdes C., Tato F., Jensen H. K., Jensen L. G., Klausen I. C., Faergeman O., Schuster H. Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries Arteriosclerosis, thrombosis, and vascular biology 1997;17 (4):741-747 [PubMed]
• van der Hoek Y. Y., Lingenhel A., Kraft H. G., Defesche J. C., Kastelein J. J., Utermann G. Sib-pair analysis detects elevated Lp(a) levels and large variation of Lp(a) concentration in subjects with familial defective ApoB Journal of clinical investigation 1997;99 (9):2269-2273 [PubMed]

1996

• Lombardi P., Kamerling S. W., Defesche J. C., Kastelein J. J., Havekes L. M. Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia Clinical genetics 1996;50 (6):525-526 [PubMed]
• Defesche J. C., van Diermen D. E., Hayden M. R., Kastelein J. P. Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia Gene geography 1996;10 (1):1-10 [PubMed]

1995

• Pimstone S. N., Gagné S. E., Gagné C., Lupien P. J., Gaudet D., Williams R. R., Kotze M., Reymer P. W., Defesche J. C., Kastelein J. J. Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia Arteriosclerosis, thrombosis, and vascular biology 1995;15 (10):1704-1712 [PubMed]
• Wijker M., Ligtenberg M. J., Schoute F., Defesche J. C., Pals G., Bolhuis P. A., Ropers H. H., Hulsebos T. J., Menko F. H., van Oost B. A. The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region American journal of human genetics 1995;56 (5):1096-1100 [PubMed]

1994

• Stalenhoef A. F., Defesche J. C., Kleinveld H. A., Demacker P. N., Kastelein J. J. Decreased resistance against in vitro oxidation of LDL from patients with familial defective apolipoprotein B-100 Arteriosclerosis and thrombosis 1994;14 (3):489-493 [PubMed]
• van den Broek A. J., Hollaar L., Schaefer H. I., van der Laarse A., Schuster H., Defesche J. C., Kastelein J. J., van 't Hooft F. M. Screening for familial defective apolipoprotein B-100 with improved U937 monocyte proliferation assay Clinical chemistry 1994;40 (3):395-399 [PubMed]

1993

• Defesche J. C., Lansberg P. J., Reymer P. W., Lamping R. J., Kastelein J. J. Analysis of the Afrikaner mutation in exon 9 of the low-density lipoprotein receptor gene in a large Dutch kindred suffering from familial hypercholesterolaemia Netherlands journal of medicine 1993;42 (1-2):53-60 [PubMed]
• Defesche J. C., Pricker K. L., Hayden M. R., van der Ende B. E., Kastelein J. J. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia Archives of internal medicine 1993;153 (20):2349-2356 [PubMed]
• Defesche J. C., van Diermen D. E., Lansberg P. J., Lamping R. J., Reymer P. W., Hayden M. R., Kastelein J. J. South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population Human genetics 1993;92 (6):567-570 [PubMed]

1992

• Lansberg P. J., Kastelein J. J., Defesche J. C., ten Cate J. W. De behandeling van familiaire hypercholesterolemie Nederlands tijdschrift voor geneeskunde 1992;136 (15):734-738 [PubMed]
• Defesche J. C., van de Ree M. A., Kastelein J. J., van Diermen D. E., Janssens N. W., van Doormaal J. J., Hayden M. R. Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada Clinical genetics 1992;42 (6):273-280 [PubMed]

1990

• de Visser M., Bakker E., Defesche J. C., Bolhuis P. A., van Ommen G. J. An unusual variant of Becker muscular dystrophy Annals of neurology 1990;27 (5):578-581 [PubMed]
• Defesche J. C., Hoogendijk J. E., de Visser M., de Visser O., Bolhuis P. A. Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17 Neurology 1990;40 (9):1450-1453 [PubMed]

1989

• Defesche J. C., de Vissar M., Bakker E., Bouwsma G., de Vijlder J. J., Bolhuis P. A. DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases Human genetics 1989;82 (1):55-58 [PubMed]

1987

• Bolhuis P. A., Defesche J. C., van der Helm H. J. Differential diagnosis of genetic disease by DNA restriction fragment length polymorphisms Clinica chimica acta; international journal of clinical chemistry 1987;165 (2-3):271-276 [PubMed]

1985

• Mölders H., Defesche J., Müller D., Bonner T. I., Rapp U. R., Müller R. Integration of transfected LTR sequences into the c-raf proto-oncogene: activation by promoter insertion EMBO journal 1985;4 (3):693-698 [PubMed]