BEng BSc J. Peter publications


Publications BEng BSc J. Peter

Support Staff
Main activities
Education, Patient care, Research
DNA, NGS, Sequencing, HDL, LDL
Focus of research

To identify novel genes in families in which a strong autosomal dominant trait for extreme lipid disorders or premature atherosclerosis of unknown aetiology is observed.


  • Bruikman Caroline S., Vreeken Dianne, Zhang Huayu, van Gils Marit J., Peter Jorge, van Zonneveld Anton Jan, Hovingh G. Kees, van Gils Janine M. The identification and function of a Netrin-1 mutation in a pedigree with premature atherosclerosis Atherosclerosis 2020 [PubMed]


  • van den Boogert Marjolein A. W., Larsen Lars E., Ali Lubna, Kuil Sacha D., Chong Patrick L. W., Loregger Anke, Kroon Jeffrey, Schnitzler Johan G., Schimmel Alinda W. M., Peter Jorge, Levels Johannes H. M., Steenbergen Gerry, Morava Eva, Dallinga-Thie Geesje M., Wevers Ron A., Kuivenhoven Jan Albert, Hand Nicholas J., Zelcer Noam, Rader Daniel J., Stroes Erik S. G., Lefeber Dirk J., Holleboom Adriaan G. N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression Circulation 2019;140 (4):280-292 [PubMed]


  • van Mens T. E., Joensen U. N., Bochdanovits Z., Takizawa A., Peter J., Jørgensen N., Szecsi P. B., Meijers J. C. M., Weiler H., Rajpert-de Meyts E., Repping S., Middeldorp S. Factor V Leiden is associated with increased sperm count Human reproduction (Oxford, England) 2017;32 (11):2332-2339 [PubMed]


  • Thedrez Aurélie, Sjouke Barbara, Passard Maxime, Prampart-Fauvet Simon, Guédon Alexis, Croyal Mikael, Dallinga-Thie Geesje, Peter Jorge, Blom Dirk, Ciccarese Milco, Cefalù Angelo B., Pisciotta Livia, Santos Raul D., Averna Maurizio, Raal Frederick, Pintus Paolo, Cossu Maria, Hovingh Kees, Lambert Gilles Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia-Brief Report Arteriosclerosis, thrombosis, and vascular biology 2016;36 (8):1647-1650 [PubMed]


  • Cunha Marisa L. R., Bakhtiari Kamran, Peter Jorge, Marquart J. Arnoud, Meijers Joost C. M., Middeldorp Saskia A novel mutation in the F5 gene (factor V Amsterdam) associated with bleeding independent of factor V procoagulant function Blood 2015;125 (11):1822-1825 [PubMed]


  • Motazacker Mohammad Mahdi, Peter Jorge, Treskes Marco, Shoulders Carol C., Kuivenhoven Jan Albert, Hovingh G. Kees Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels Arteriosclerosis, thrombosis, and vascular biology 2013;33 (7):1521-1528 [PubMed]


  • 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]
  • 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]
  • 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]


  • 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]
  • 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]


  • Candini C., Schimmel A. W., Peter J., Bochem A. E., Holleboom A. G., Vergeer M., Dullaart R. P. F., Dallinga-Thie G. M., Hovingh G. K., Khoo K. L., Fasano T., Bocchi L., Calandra S., Kuivenhoven J. A., Motazacker M. M. Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol Atherosclerosis 2010;213 (2):492-498 [PubMed]


  • Beigneux Anne P., Franssen Remco, Bensadoun André, Gin Peter, Melford Kristan, Peter Jorge, Walzem Rosemary L., Weinstein Michael M., Davies Brandon S. J., Kuivenhoven Jan A., Kastelein John J. P., Fong Loren G., Dallinga-Thie Geesje M., Young Stephen G. Chylomicronemia With a Mutant GPIHBP1 (Q115P) That Cannot Bind Lipoprotein Lipase Arteriosclerosis, thrombosis, and vascular biology 2009;29 (6):956-U447 [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]


  • 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]


  • Frameshift mutants of beta amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients Science 1998;279 (5348):242-247 [PubMed]