M.M. Motazacker PhD publications

2020

• Barrie Elizabeth S., Overwater Eline, van Haelst Mieke M., Motazacker M. Mahdi, Truxal Kristen V., Crist Erin, Mostafavi Roya, Pivnick Eniko K., Choudhri Asim F., Narumanchi TaraChandra, Castelluccio Valerie, Walsh Laurence E., Garganta Cheryl, Gastier-Foster Julie M. Expanding the spectrum of CEP55-associated disease to viable phenotypes American journal of medical genetics. Part A 2020;182 (5):1201-1208 [PubMed]

2019

• Salpietro Vincenzo, Dixon Christine L, Guo Hui, Bello Oscar D, Vandrovcova Jana, Efthymiou Stephanie, Maroofian Reza, Heimer Gali, Burglen Lydie, Valence Stephanie, Torti Erin, Hacke Moritz, Rankin Julia, Tariq Huma, Colin Estelle, Procaccio Vincent, Striano Pasquale, Mankad Kshitij, Lieb Andreas, Chen Sharon, Pisani Laura, Bettencourt Conceicao, Männikkö Roope, Manole Andreea, Brusco Alfredo, Grosso Enrico, Ferrero Giovanni Battista, Armstrong-Moron Judith, Gueden Sophie, Bar-Yosef Omer, Tzadok Michal, Monaghan Kristin G, Santiago-Sim Teresa, Person Richard E, Cho Megan T, Willaert Rebecca, Yoo Yongjin, Chae Jong-Hee, Quan Yingting, Wu Huidan, Wang Tianyun, Bernier Raphael A, Xia Kun, Blesson Alyssa, Jain Mahim, Motazacker Mohammad M, Jaeger Bregje, Schneider Amy L, Boysen Katja, Muir Alison M, Eichler Evan E., Kullmann Dimitri M., Houlden Henry AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Nature communications 2019;10 (1):3094 [PubMed]

2017

• Nikkola Elina, Ko Arthur, Alvarez Marcus, Cantor Rita M., Garske Kristina, Kim Elliot, Gee Stephanie, Rodriguez Alejandra, Muxel Reinhard, Matikainen Niina, Söderlund Sanni, Motazacker Mahdi M., Borén Jan, Lamina Claudia, Kronenberg Florian, Schneider Wolfgang J., Palotie Aarno, Laakso Markku, Taskinen Marja-Riitta, Pajukanta Päivi Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family Atherosclerosis 2017;264:58-66 [PubMed]

2016

• Motazacker Mahdi M., Pirhonen Juho, van Capelleveen Julian C., Weber-Boyvat Marion, Kuivenhoven Jan Albert, Shah Saundarya, Hovingh G. Kees, Metso Jari, Li Shiqian, Ikonen Elina, Jauhiainen Matti, Dallinga-Thie Geesje M., Olkkonen Vesa M. A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity Atherosclerosis 2016;249:140-147 [PubMed]
• Maiwald Stephanie, Motazacker Mahdi M., van Capelleveen Julian C., Sivapalaratnam Suthesh, van der Wal Allard C., van der Loos Chris, Kastelein John J. P., Ouwehand Willem H., Hovingh G. Kees, Trip Mieke D., van Buul Jaap D., Dallinga-Thie Geesje M. A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis European journal of human genetics 2016;24 (1):86-91 [PubMed]
• Esmaeeli-Nieh Sahar, Fenckova Michaela, Porter Iain M., Motazacker M. Mahdi, Nijhof Bonnie, Castells-Nobau Anna, Asztalos Zoltan, Weißmann Robert, Behjati Farkhondeh, Tzschach Andreas, Felbor Ute, Scherthan Harry, Sayfati Seyed Morteza, Ropers H. Hilger, Kahrizi Kimia, Najmabadi Hossein, Swedlow Jason R., Schenck Annette, Kuss Andreas W. BOD1 Is Required for Cognitive Function in Humans and Drosophila PLoS genetics 2016;12 (5):e1006022 [PubMed]

2015

• Rahimi Mehran, Vinciguerra Manlio, Daghighi Mojtaba, Özcan Behiye, Akbarkhanzadeh Vishtaseb, Sheedfar Fareeba, Amini Marzyeh, Mazza Tommaso, Pazienza Valerio, Motazacker Mahdi M., Mahmoudi Morteza, de Rooij Felix W. M., Sijbrands Eric, Peppelenbosch Maikel P., Rezaee Farhad Age-related obesity and type 2 diabetes dysregulate neuronal associated genes and proteins in humans Oncotarget 2015;6 (30):29818-29832 [PubMed]
• Stitziel Nathan O., Peloso Gina M., Abifadel Marianne, Cefalu Angelo B., Fouchier Sigrid, Motazacker M. Mahdi, Tada Hayato, Larach Daniel B., Awan Zuhier, Haller Jorge F., Pullinger Clive R., Varret Mathilde, Rabès Jean-Pierre, Noto Davide, Tarugi Patrizia, Kawashiri Masa-Aki, Nohara Atsushi, Yamagishi Masakazu, Risman Marjorie, deo Rahul, Ruel Isabelle, Shendure Jay, Nickerson Deborah A., Wilson James G., Rich Stephen S., Gupta Namrata, Farlow Deborah N., Neale Benjamin M., Daly Mark J., Kane John P., Freeman Mason W., Genest Jacques, Rader Daniel J., Mabuchi Hiroshi, Kastelein John J. P., Hovingh G. Kees, Averna Maurizio R., Gabriel Stacey, Boileau Catherine, Kathiresan Sekar Exome sequencing in suspected monogenic dyslipidemias Circulation. Cardiovascular genetics 2015;8 (2):343-350 [PubMed]
• Groen Justus L., Ritz Katja, Jalalzadeh Hamid, van der Salm Sandra M. A., Jongejan Aldo, Mook Olaf R., Haagmans Martin A., Zwinderman Aeilko H., Motazacker Mahdi M., Hennekam Raoul C., Baas Frank, Tijssen Marina A. J. RELN rare variants in myoclonus-dystonia Movement disorders 2015;30 (3):415-419 [PubMed]
• Sakulkhu Usawadee, Mahmoudi Morteza, Maurizi Lionel, Coullerez Geraldine, Hofmann-Amtenbrink Margarethe, Vries Marcel, Motazacker Mahdi, Rezaee Farhad, Hofmann Heinrich Significance of surface charge and shell material of superparamagnetic iron oxide nanoparticle (SPION) based core/shell nanoparticles on the composition of the protein corona Biomaterials science 2015;3 (2):265-278 [PubMed]
• Rahimi M., Ng E.-P., Bakhtiari K., Vinciguerra M., Ali Ahmad H., Awala H., Mintova S., Daghighi M., Bakhshandeh Rostami F., de Vries M., Motazacker M. M., Peppelenbosch M. P., Mahmoudi M., Rezaee F. Zeolite Nanoparticles for Selective Sorption of Plasma Proteins Scientific reports 2015;5:17259 [PubMed]

2014

• Bochem Andrea E., Holleboom Adriaan G., Romijn Johannes A., Hoekstra Menno, Dallinga Geesje M., Motazacker Mahdi M., Hovingh G. Kees, Kuivenhoven Jan A., Stroes Erik S. G. Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT PLoS ONE 2014;9 (5):e90967 [PubMed]
• Sakulkhu Usawadee, Maurizi Lionel, Mahmoudi Morteza, Motazacker Mahdi, Vries Marcel, Gramoun Azza, Ollivier Beuzelin Marie-Gabrielle, Vallée Jean-Paul, Rezaee Farhad, Hofmann Heinrich Ex situ evaluation of the composition of protein corona of intravenously injected superparamagnetic nanoparticles in rats Nanoscale 2014;6 (19):11439-11450 [PubMed]
• Maiwald Stephanie, Sivapalaratnam Suthesh, Motazacker Mahdi M., van Capelleveen Julian C., Bot Ilze, de Jager Saskia C., van Eck Miranda, Jolley Jennifer, Kuiper Johan, Stephens Jonathon, Albers Cornelius A., Vosmeer C. Ruben, Kruize Heleen, Geerke Daan P., van der Wal Allard C., van der Loos Chris M., Kastelein John J. P., Trip Mieke D., Ouwehand Willem H., Dallinga-Thie Geesje M., Hovingh G. Kees Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis PLoS ONE 2014;9 (5):e98289 [PubMed]
• Dashty M., Motazacker M. M., Levels J., de Vries M., Mahmoudi M., Peppelenbosch M. P., Rezaee F. Proteome of human plasma very low-density lipoprotein and low-density lipoprotein exhibits a link with coagulation and lipid metabolism Thrombosis and haemostasis 2014;111 (3):518-530 [PubMed]
• Bochem A. E., van Capelleveen J. C., Dallinga-Thie G. M., Schimmel A. W. M., Motazacker M. M., Tietjen I., Singaraja R. R., Hayden M. R., Kastelein J. J. P., Stroes E. S. G., Hovingh G. K. Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families Clinical genetics 2014;85 (5):433-440 [PubMed]

2013

• Bochem Andrea E., van Wijk Diederik F., Holleboom Adriaan G., Duivenvoorden Raphaël, Motazacker Mahdi M., Dallinga-Thie Geesje M., de Groot Eric, Kastelein John J. P., Nederveen Aart J., Hovingh G. Kees, Stroes Erik S. G. ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden European heart journal 2013;34 (4):286-291 [PubMed]
• Laurent S., Ng E.-P., Thirifays C., Lakiss L., Goupil G.-M., Mintova S., Burtea C., Oveisi E., Hebert C., de Vries M., Motazacker M. M., Rezaee F., Mahmoudi M. Corona protein composition and cytotoxicity evaluation of ultra-small zeolites synthesized from template free precursor suspensions TOXICOLOGY RESEARCH 2013;2 (4):270-279
• 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]
• van Capelleveen Julian C., Bochem Andrea E., Motazacker M. Mahdi, Hovingh G. Kees, Kastelein John J. P. Genetics of HDL-C: a causal link to atherosclerosis? Current atherosclerosis reports 2013;15 (6):326 [PubMed]
• Bochem Andrea E., Holleboom Adriaan G., Romijn Johannes A., Hoekstra Menno, Dallinga-Thie Geesje M., Motazacker Mahdi M., Hovingh G. Kees, Kuivenhoven Jan A., Stroes Erik S. G. High density lipoprotein as a source of cholesterol for adrenal steroidogenesis: a study in individuals with low plasma HDL-C Journal of lipid research 2013;54 (6):1698-1704 [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]
• Shahim Pashtun, Bochem Andrea E., Mattsson Niklas, Lautner Ronald, Blennow Kaj, Hovingh G. Kees, Motazacker M. Mahdi, Zetterberg Henrik Plasma amyloid-β in patients with Tangier disease Journal of Alzheimer s disease 2013;35 (2):307-312 [PubMed]
• Sharifi S., Daghighi S., Motazacker M. M., Badlou B., Sanjabi B., Akbarkhanzadeh A., Rowshani A. T., Laurent S., Peppelenbosch M. P., Rezaee F. Superparamagnetic iron oxide nanoparticles alter expression of obesity and T2D-associated risk genes in human adipocytes Scientific reports 2013;3:2173 [PubMed]
• Shabestari M., Plug T., Motazacker M. M., Meeuwenoord N. J., Filippov D. V., Meijers J. C. M., Huber M. The Aggregation Potential of the 1-15-and 1-16-Fragments of the Amyloid beta Peptide and Their Influence on the Aggregation of A beta 40 Applied magnetic resonance 2013;44 (10):1167-1179
• Shabestari M. Hashemi, Plug T., Motazacker M. M., Meeuwenoord N. J., Filippov D. V., Meijers J. C. M., Huber M. The Aggregation Potential of the 1-15- and 1-16-Fragments of the Amyloid beta Peptide and Their Influence on the Aggregation of A beta 40 (vol 44, pg 1167, 2013) Applied magnetic resonance 2013;44 (11):1345

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]
• Sarwar Nadeem, Butterworth Adam S., Freitag Daniel F., Gregson John, Willeit Peter, Gorman Donal N., Gao Pei, Saleheen Danish, Rendon Augusto, Nelson Christopher P., Braund Peter S., Hall Alistair S., Chasman Daniel I., Tybjærg-Hansen Anne, Chambers John C., Benjamin Emelia J., Franks Paul W., Clarke Robert, Wilde Arthur A. M., Trip Mieke D., Steri Maristella, Witteman Jacqueline C. M., Qi Lu, van der Schoot C. Ellen, de Faire Ulf, Erdmann Jeanette, Stringham Heather M., Koenig Wolfgang, Rader Daniel J., Melzer David, Reich David, Psaty Bruce M., Kleber Marcus E., Panagiotakos Demosthenes B., Willeit Johann, Wennberg Patrik, Woodward Mark, Adamovic Svetlana, Rimm Eric B., Meade Tom W., Gillum Richard F., Shaffer Jonathan A., Hofman Albert, Onat Altan, Kastelein John J. P., Motazacker Mahdi, de Jong Jonas S. S. G., Dekker Lucas R. C., Tanck Michael, Bezzina Connie R. Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies Lancet 2012;379 (9822):1205-1213 [PubMed]
• Steiner Carine, Holleboom Adriaan G., Karuna Ratna, Motazacker Mohammad M., Kuivenhoven Jan Albert, Frikke-Schmidt Ruth, Tybjaerg-Hansen Anne, Rohrer Lucia, Rentsch Katharina M., von Eckardstein Arnold Lipoprotein distribution and serum concentrations of 7 alpha-hydroxy-4-cholesten-3-one and bile acids: effects of monogenic disturbances in high-density lipoprotein metabolism Clinical science (London, England 2012;122 (7-8):385-396 [PubMed]
• Abbasi-Moheb Lia, Mertel Sara, Gonsior Melanie, Nouri-Vahid Leyla, Kahrizi Kimia, Cirak Sebahattin, Wieczorek Dagmar, Motazacker M. Mahdi, Esmaeeli-Nieh Sahar, Cremer Kirsten, Weißmann Robert, Tzschach Andreas, Garshasbi Masoud, Abedini Seyedeh S., Najmabadi Hossein, Ropers H. Hilger, Sigrist Stephan J., Kuss Andreas W. Mutations in NSUN2 cause autosomal- Recessive intellectual disability American journal of human genetics 2012;90 (5):847-855 [PubMed]

2011

• Daniil Georgios, Phedonos Alexia A. P., Holleboom Adriaan G., Motazacker Mohammad Mahdi, Argyri Letta, Kuivenhoven Jan Albert, Chroni Angeliki Characterization of antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations of HDL from family subjects with monogenic low HDL disorders Clinica chimica acta; international journal of clinical chemistry 2011;412 (13-14):1213-1220 [PubMed]
• Vergeer Menno, Korporaal Suzanne J. A., Franssen Remco, Meurs Illiana, Out Ruud, Hovingh G. Kees, Hoekstra Menno, Sierts Jeroen A., Dallinga-Thie Geesje M., Motazacker Mohammad Mahdi, Holleboom Adriaan G., van Berkel Theo J. C., Kastelein John J. P., van Eck Miranda, Kuivenhoven Jan Albert Genetic Variant of the Scavenger Receptor BI in Humans New England journal of medicine 2011;364 (2):136-145 [PubMed]
• Sivapalaratnam S., Motazacker M. M., Maiwald S., Hovingh G. K., Kastelein J. J. P., Levi M. [=Marcel M.], Trip M. D., Dallinga-Thie G. M. Genome-wide association studies in atherosclerosis Current atherosclerosis reports 2011;13 (3):225-232 [PubMed]
• Holleboom Adriaan G., Karlsson Helen, Lin Ruei-Shiuan, Beres Thomas M., Sierts Jeroen A., Herman Daniel S., Stroes Erik S. G., Aerts Johannes M., Kastelein John J. P., Motazacker Mohammad M., Dallinga-Thie Geesje M., Levels Johannes H. M., Zwinderman Aeilko H., Seidman Jonathan G., Seidman Christine E., Ljunggren Stefan, Lefeber Dirk J., Morava Eva, Wevers Ron A., Fritz Timothy A., Tabak Lawrence A., Lindahl Mats, Hovingh G. Kees, Kuivenhoven Jan Albert Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man Cell metabolism 2011;14 (6):811-818 [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]
• Karuna Ratna, Holleboom Adriaan G., Motazacker Mohammad M., Kuivenhoven Jan Albert, Frikke-Schmidt Ruth, Tybjaerg-Hansen Anne, Georgopoulos Spiros, van Eck Miranda, van Berkel Theo J. C., von Eckardstein Arnold, Rentsch Katharina M. Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism Atherosclerosis 2011;214 (2):448-455 [PubMed]
• Karuna Ratna, Park Rebekka, Othman Alaa, Holleboom Adriaan G., Motazacker Mohammad Mahdi, Sutter Iryna, Kuivenhoven Jan Albert, Rohrer Lucia, Matile Hugues, Hornemann Thorsten, Stoffel Markus, Rentsch Katharina M., von Eckardstein Arnold Plasma levels of sphingosine-1-phosphate and apolipoprotein M in patients with monogenic disorders of HDL metabolism Atherosclerosis 2011;219 (2):855-863 [PubMed]
• Hu Hao, Eggers Katinka, Chen Wei, Garshasbi Masoud, Motazacker M. Mahdi, Wrogemann Klaus, Kahrizi Kimia, Tzschach Andreas, Hosseini Masoumeh, Bahman Ideh, Hucho Tim, Mühlenhoff Martina, Gerardy-Schahn Rita, Najmabadi Hossein, Ropers H. Hilger, Kuss Andreas W. ST3GAL3 mutations impair the development of higher cognitive functions American journal of human genetics 2011;89 (3):407-414 [PubMed]

2010

• Motazacker Mohammad Mahdi, Kastelein John J., Kuivenhoven Jan Albert Are high-density lipoprotein genes and their products targets for therapy? Current opinion in lipidology 2010;21 (2):157-158 [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]

2009

• Mir Asif, Kaufman Liana, Noor Abdul, Motazacker Mahdi M., Jamil Talal, Azam Matloob, Kahrizi Kimia, Rafiq Muhammad Arshad, Weksberg Rosanna, Nasr Tanveer, Naeem Farooq, Tzschach Andreas, Kuss Andreas W., Ishak Gisele E., Doherty Dan, Ropers H. Hilger, Barkovich A. James, Najmabadi Hossein, Ayub Muhammad, Vincent John B. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation American journal of human genetics 2009;85 (6):909-915 [PubMed]

2008

• Tzschach A., Bozorgmehr B., Hadavi V., Kahrizi K., Garshasbi M., Motazacker M. M., Ropers H.-H., Kuss A. W., Najmabadi H. Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients British journal of dermatology 2008;159 (3):748-751 [PubMed]

2007

• Motazacker Mohammad Mahdi, Rost Benjamin Rainer, Hucho Tim, Garshasbi Masoud, Kahrizi Kimia, Ullmann Reinhard, Abedini Seyedeh Sedigheh, Nieh Sahar Esmaeeli, Amini Saeid Hosseini, Goswami Chandan, Tzschach Andreas, Jensen Lars Riff, Schmitz Dietmar, Ropers Hans Hilger, Najmabadi Hossein, Kuss Andreas Walter A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation American journal of human genetics 2007;81 (4):792-798 [PubMed]
• Najmabadi Hossein, Motazacker Mohammad Mahdi, Garshasbi Masoud, Kahrizi Kimia, Tzschach Andreas, Chen Wei, Behjati Farkhondeh, Hadavi Valeh, Nieh Sahar Esmaeeli, Abedini Seyedeh Sedigheh, Vazifehmand Reza, Firouzabadi Saghar Ghasemi, Jamali Payman, Falah Masoumeh, Seifati Seyed Morteza, Grüters Annette, Lenzner Steffen, Jensen Lars R., Rüschendorf Franz, Kuss Andreas W., Ropers H. Hilger Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci Human genetics 2007;121 (1):43-48 [PubMed]
• Motazacker Mohammad-Mahdi, Taherzadeh-Fard Elahe, Husseini Zohreh, Behjati Farkhondeh, Esteghamat Fatemehsadat, Kahrizi Kimia, Najmabadi Hossein The Iranian human mutation database Archives of Iranian medicine 2007;10 (3):372-375 [PubMed]

2006

• Garshasbi Masoud, Motazacker Mohammad Mahdi, Kahrizi Kimia, Behjati Farkhondeh, Abedini Seyedeh Sedigheh, Nieh Sahar Esmaeeli, Firouzabadi Saghar Ghasemi, Becker Christian, Rüschendorf Franz, Nürnberg Peter, Tzschach Andreas, Vazifehmand Reza, Erdogan Fikret, Ullmann Reinhard, Lenzner Steffen, Kuss Andreas W., Ropers H. Hilger, Najmabadi Hossein SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly Human genetics 2006;118 (6):708-715 [PubMed]
• Kleanthous Marina, Patsalis Philippos C., Drousiotou Anthi, Motazacker Mehdi, Christodoulou Kyproula, Cariolou Marios, Baysal Erol, Khrizi Kimia, Moghimi Babak, Pourfarzad Farzin, van Baal Sjozef, Deltas Constantinos, Najmabadi Hossein, Patrinos George P. The cypriot and Iranian National Mutation Frequency Databases Human mutation 2006;27 (6):598-599 [PubMed]