P
Patrick Sulem
Researcher at Amgen
Publications - 267
Citations - 44181
Patrick Sulem is an academic researcher from Amgen. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 88, co-authored 236 publications receiving 38127 citations. Previous affiliations of Patrick Sulem include deCODE genetics.
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Journal ArticleDOI
Rate of de novo mutations and the importance of father’s age to disease risk
Augustine Kong,Michael L. Frigge,Gisli Masson,Søren Besenbacher,Søren Besenbacher,Patrick Sulem,Gisli Magnusson,Sigurjon A. Gudjonsson,Asgeir Sigurdsson,Aslaug Jonasdottir,Adalbjorg Jonasdottir,Wendy S.W. Wong,Gunnar Th. Sigurdsson,G. Bragi Walters,Stacy Steinberg,Hannes Helgason,Gudmar Thorleifsson,Daniel F. Gudbjartsson,Agnar Helgason,Agnar Helgason,Olafur T. Magnusson,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Kari Stefansson,Kari Stefansson +24 more
TL;DR: A study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent–offspring trios at high coverage shows that the diversity in mutation rate of single nucleotide polymorphisms is dominated by the age of the father at conception of the child.
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A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
Thorlakur Jonsson,Jasvinder K. Atwal,Stacy Steinberg,Jon Snaedal,Palmi V. Jonsson,Sigurbjorn Bjornsson,Hreinn Stefansson,Patrick Sulem,Daniel F. Gudbjartsson,Janice A. Maloney,Kwame Hoyte,Amy Gustafson,Yichin Liu,Yanmei Lu,Tushar Bhangale,Robert R. Graham,Johanna Huttenlocher,Gyda Bjornsdottir,Ole A. Andreassen,Erik G. Jönsson,Aarno Palotie,Timothy W. Behrens,Olafur T. Magnusson,Augustine Kong,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Ryan J. Watts,Kari Stefansson,Kari Stefansson +28 more
TL;DR: The strong protective effect of the A673T substitution against Alzheimer’s disease provides proof of principle for the hypothesis that reducing the β-cleavage of APP may protect against the disease.
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Erratum: Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer (Nature Genetics (2009) 41 (991-995))
Xifeng Wu,Yuanqing Ye,Lambertus A. Kiemeney,Patrick Sulem,Thorunn Rafnar,Giuseppe Matullo,Daniela Seminara,Teruhiko Yoshida,Norihisa Saeki,Angeline S. Andrew,Colin P.N. Dinney,Bogdan Czerniak,Zuo-Feng Zhang,Anne E. Kiltie,D. Timothy Bishop,Paolo Vineis,Stefano Porru,Frank Buntinx,Eliane Kellen,Maurice P. Zeegers,Rajesh Kumar,Peter Rudnai,Eugene Gurzau,Kvetoslava Koppova,Jose I. Mayordomo,Manuel Sanchez,Berta Saez,Annika Lindblom,Petra J. de Verdier,Gunnar Steineck,Gordon B. Mills,Alan R. Schned,Shen Chih Chang,Jie Lin,David W. Chang,Katherine S. Hale,Tadeusz Majewski,H. Barton Grossman,Steinunn Thorlacius,Unnur Thorsteinsdottir,Katja K.H. Aben,J. Alfred Witjes,Kari Stefansson,Christopher I. Amos,Margaret R. Karagas,Jian Gu +45 more
TL;DR: In the version of this article initially published online, Simonetta Guarrera and Silvia Polidoro were inadvertently omitted from the author list, and an affiliation was omitted for Paolo Vineis as mentioned in this paper.
Journal ArticleDOI
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
Thorgeir E. Thorgeirsson,Frank Geller,Patrick Sulem,Thorunn Rafnar,Anna Wiste,Anna Wiste,Kristinn P. Magnusson,Andrei Manolescu,Gudmar Thorleifsson,Hreinn Stefansson,Andres Ingason,Simon N. Stacey,Jon Thor Bergthorsson,Steinunn Thorlacius,Julius Gudmundsson,Thorlakur Jonsson,Margret Jakobsdottir,Jona Saemundsdottir,Olof Birna Olafsdottir,Larus J. Gudmundsson,Gyda Bjornsdottir,Kristleifur Kristjansson,Halla Skuladottir,Helgi J Isaksson,Tomas Gudbjartsson,Gregory T. Jones,Thomas Mueller,Anders Gottsäter,Andrea Flex,Katja K.H. Aben,Femmie de Vegt,Peter F.A. Mulders,Dolores Isla,Maria Vidal,Laura Asín,Berta Saez,L. Murillo,Thorsteinn Blondal,Halldor Kolbeinsson,Jón G. Stefánsson,Ingunn Hansdottir,Valgerdur Runarsdottir,Roberto Pola,Bengt Lindblad,Andre M. van Rij,Benjamin Dieplinger,Meinhard Haltmayer,Jose I. Mayordomo,Lambertus A. Kiemeney,Stefan E Matthiasson,Hogni Oskarsson,Thorarinn Tyrfingsson,Daniel F. Gudbjartsson,Jeffrey R. Gulcher,Steinn Jonsson,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Augustine Kong,Kari Stefansson,Kari Stefansson +59 more
TL;DR: A common variant in the nicotinic acetylcholine receptor gene cluster on chromosome 15q24 with an effect on smoking quantity, ND and the risk of two smoking-related diseases in populations of European descent is identified.
Journal ArticleDOI
Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma
Bhairavi Swaminathan,Guðmar Thorleifsson,Magnus Jöud,Mina Ali,Ellinor Johnsson,Ram Ajore,Patrick Sulem,Britt-Marie Halvarsson,Guðmundur I Eyjólfsson,Vilhelmina Haraldsdottir,Christina M. Hultman,Erik Ingelsson,Sigurður Yngvi Kristinsson,Anna K. Kähler,Stig Lenhoff,Gisli Masson,Ulf-Henrik Mellqvist,Robert Månsson,Sven Nelander,Isleifur Olafsson,Ólöf Sigurðardóttir,Hlif Steingrimsdottir,Annette Juul Vangsted,Ulla Vogel,Anders Waage,Hareth Nahi,Daniel F. Gudbjartsson,Thorunn Rafnar,Ingemar Turesson,Urban Gullberg,Kari Stefansson,Markus Hansson,Unnur Thorsteinsdottir,Björn Nilsson,Björn Nilsson +34 more
TL;DR: A genome-wide association study in the Nordic region identifying a novel MM risk locus at ELL2 that encodes a stoichiometrically limiting component of the super-elongation complex that drives secretory-specific immunoglobulin mRNA production and transcriptional regulation in plasma cells is reported.