Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands

by Kindt, Iris, Huijgen, Roeland, Boekel, Marieke, van der Gaag, Kristiaan J., Defesche, Joep C., Kastelein, John J. P., de Knijff, Peter
Published 2013

Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study

by Sijbrands, Eric J G, Westendorp, Rudi G J, Defesche, Joep C, de Meier, Paul H E M, Smelt, Augustinus H M, Kastelein, John J P
Published 2001

Differential DNA methylation in familial hypercholesterolemia

by 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
Published in EBioMedicine (2020)

Recent Origin and Spread of a Common Lithuanian Mutation, G197del LDLR, Causing Familial Hypercholesterolemia: Positive Selection Is Not Always Necessary to Account for Disease Inc...

by Durst, Ronen, Colombo, Roberto, Shpitzen, Shoshi, Avi, Liat Ben, Friedlander, Yechiel, Wexler, Roni, Raal, Frederick J., Marais, David A., Defesche, Joep C., Mandelshtam, Michail Y., Kotze, Maritha J., Leitersdorf, Eran, Meiner, Vardiella
Published 2001

Efficacy of statins in familial hypercholesterolaemia: a long term cohort study

by 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
Published 2008

The Gene for Hereditary Bullous Dystrophy, X-Linked Macular Type, Maps to the Xq27.3-qter Region

by Wijker, Mario, Ligtenberg, Marjolijn J. L., Schoute, Frans, Defesche, Joep C., Pals, Gerard, Bolhuis, Pieter A, Ropers, Hans H., Hulsebos, Theo J. M., Menko, Fred H., van Oost, Bernard A., Lungarotti, M. Serena, Arwert, Fré
Published 1995

Low-density lipoprotein receptor mutations generate synthetic genome-wide associations

by 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
Published 2013

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia

by Surendran, R Preethi, Visser, Maartje E, Heemelaar, Steffie, Wang, Jian, Peter, Jorge, Defesche, Joep C, Kuivenhoven, Jan A, Hosseini, Maryam, Péterfy, Miklós, Kastelein, John JP, Johansen, Chris T, Hegele, Robert A, Stroes, Erik SG, Dallinga-Thie, Geesje M
Published 2012

Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia

by 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.
Published 2008

ClinVar database of global familial hypercholesterolemia-associated DNA variants

by Iacocca, Michael A., Chora, Joana R., Carrie, Alain, Freiberger, Tomas, Leigh, Sarah E., Defesche, Joep C., Kurtz, C. Lisa, DiStefano, Marina T., Santos, Raul, Humphries, Steve E., Mata, Pedro, Jannes, Cinthia, Hooper, Amanda J., Wilemon, Katherine A., Benlian, Pascale, O’Connor, Robert, Garcia, John, Wand, Hannah, Tichy, Lukas, Sijbrands, Eric J., Hegele, Robert A., Bourbon, Mafalda, Knowles, Joshua W.
Published in Hum Mutat (2018)

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the E...

by 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
Published 2013

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Famil...

by 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, Cuchel, Marina, Bruckert, Eric, Chapman, M. John, Descamps, Olivier S., Ginsberg, Henry N., Hegele, Robert A., Kuivenhoven, Jan Albert, Nordestgaard, Børge G., Raal, Frederick J., Santos, Raul D., Steinhagen-Thiessen, Elisabeth, Tybjærg-Hansen, Anne, Watts, Gerald F., Chapman, M. John, Ginsberg, Henry N., 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
Published 2014

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

by 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
Published in Eur Heart J (2015)

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

by 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
Published 2013

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

by 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 FL, Green, Martin R, Zwinderman, Aeilko H, Johnson, Keith J, Schaefer, Arne, Neil, Andrew, Witteman, Jacqueline CM, Humphries, Steve E, Kastelein, John JP, Sijbrands, Eric JG
Published in Eur J Hum Genet (2015)