H
Helena Kuivaniemi
Researcher at Stellenbosch University
Publications - 239
Citations - 14906
Helena Kuivaniemi is an academic researcher from Stellenbosch University. The author has contributed to research in topics: Aortic aneurysm & Aneurysm. The author has an hindex of 66, co-authored 234 publications receiving 13582 citations. Previous affiliations of Helena Kuivaniemi include University of Oulu & University of Cape Town.
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Journal ArticleDOI
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
Anna Helgadottir,Gudmar Thorleifsson,Kristinn P. Magnusson,Solveig Gretarsdottir,Valgerdur Steinthorsdottir,Andrei Manolescu,Gregory T. Jones,Gabriel J.E. Rinkel,Jan D. Blankensteijn,Antti Ronkainen,Juha Jääskeläinen,Yoshiki Kyo,Guy M. Lenk,Natzi Sakalihasan,Konstantinos Kostulas,Anders Gottsäter,Andrea Flex,Hreinn Stefansson,Torben Hansen,Gitte Andersen,Shantel Weinsheimer,Knut Borch-Johnsen,Knut Borch-Johnsen,Torben Jørgensen,Svati H. Shah,Arshed A. Quyyumi,Christopher B. Granger,Muredach P. Reilly,Harland Austin,Allan I. Levey,Viola Vaccarino,Ebba Palsdottir,G. Bragi Walters,Thorbjorg Jonsdottir,Steinunn Snorradottir,Dana Magnusdottir,Gudmundur H. Gudmundsson,Robert E. Ferrell,Sigurlaug Sveinbjörnsdóttir,Juha Hernesniemi,Juha Hernesniemi,Mika Niemelä,Raymond Limet,Karl Andersen,Gunnar Sigurdsson,Rafn Benediktsson,Eric L.G. Verhoeven,Joep A.W. Teijink,Diederick E. Grobbee,Daniel J. Rader,David A. Collier,Oluf Pedersen,Roberto Pola,Jan Hillert,Bengt Lindblad,Einar M. Valdimarsson,Hulda B Magnadottir,Cisca Wijmenga,Gerard Tromp,Annette F. Baas,Ynte M. Ruigrok,Andre M. van Rij,Helena Kuivaniemi,Janet T. Powell,Stefan E Matthiasson,Jeffrey R. Gulcher,Gudmundur Thorgeirsson,Augustine Kong,Unnur Thorsteinsdottir,Kari Stefansson +69 more
TL;DR: It is reported that rs10757278-G is associated with, in addition to CAD, abdominal aortic aneurysm (AAA) and intracranial aneurYSm, but not with T2D, and the role of this sequence variant is not confined to atherosclerotic diseases.
Journal ArticleDOI
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future
Omri Gottesman,Helena Kuivaniemi,Gerard Tromp,W. Andrew Faucett,Rongling Li,Teri A. Manolio,Saskia C. Sanderson,Joseph L. Kannry,Randi E. Zinberg,Melissa A. Basford,Murray H. Brilliant,David J. Carey,Rex L. Chisholm,Christopher G. Chute,John Connolly,David R. Crosslin,Joshua C. Denny,Carlos J. Gallego,Jonathan L. Haines,Hakon Hakonarson,John B. Harley,Gail P. Jarvik,Isaac S. Kohane,Iftikhar J. Kullo,Eric B. Larson,Catherine A. McCarty,Marylyn D. Ritchie,Dan M. Roden,Maureen E. Smith,Erwin P. Bottinger,Marc S. Williams +30 more
TL;DR: The evolution, accomplishments, opportunities, and challenges of the network are described, from its inception as a five- group consortium focused on genotype–phenotype associations for genomic discovery to its current form as a nine-group consortium pivoting toward the implementation of genomic medicine.
Journal ArticleDOI
Mutations in collagen genes: causes of rare and some common diseases in humans.
TL;DR: The results suggest that mutations in procollagen genes may cause a wide spectrum of both rare and common human diseases.
Rare and low-frequency coding variants alter human adult height
Eirini Marouli,Mariaelisa Graff,Carolina Medina-Gomez,Ken Sin Lo,Andrew R. Wood,Troels R. Kjaer,Rebecca S. Fine,Yingchang Lu,Claudia Schurmann,Heather M. Highland,Sina Rüeger,Gudmar Thorleifsson,Anne E. Justice,David Lamparter,Kathleen Stirrups,Valérie Turcot,Kristin L. Young,Thomas W. Winkler,Tõnu Esko,Tugce Karaderi,Adam E. Locke,Nicholas G. D. Masca,Maggie C.Y. Ng,Poorva Mudgal,Manuel A. Rivas,Sailaja Vedantam,Anubha Mahajan,Xiuqing Guo,Gonçalo R. Abecasis,Katja K.H. Aben,Linda S. Adair,Dewan S. Alam,Eva Albrecht,Kristine H. Allin,Matthew A. Allison,Philippe Amouyel,Emil V. R. Appel,Dominique Arveiler,Folkert W. Asselbergs,Paul L. Auer,Beverley Balkau,Bernhard Banas,Lia E. Bang,Marianne Benn,Sven Bergmann,Lawrence F. Bielak,Matthias Blueher,Heiner Boeing,Eric Boerwinkle,Carsten A. Boeger,Lori L. Bonnycastle,Jette Bork-Jensen,Michiel L. Bots,Erwin P. Bottinger,Donald W. Bowden,Ivan Brandslund,Gerome Breen,Murray H. Brilliant,Linda Broer,Amber A. Burt,Adam S. Butterworth,David J. Carey,Mark J. Caulfield,John C. Chambers,Daniel I. Chasman,Yii-Der Ida Chen,Rajiv Chowdhury,Cramer Christensen,Audrey Y. Chu,Massimiliano Cocca,Francis S. Collins,James P. Cook,Janie Corley,Jordi Corominas Galbany,Amanda J. Cox,Gabriel Cuellar-Partida,John Danesh,Gail Davies,Paul I.W. de Bakker,Gert J. de Borst,Simon de Denus,Mark C.H. De Groot,Renée de Mutsert,Ian J. Deary,George Dedoussis,Ellen W. Demerath,Anneke I. den Hollander,Joe Dennis,Emanuele Di Angelantonio,Fotios Drenos,Mengmeng Du,Alison M. Dunning,Douglas F. Easton,Tapani Ebeling,Todd L. Edwards,Patrick T. Ellinor,Paul Elliott,Evangelos Evangelou,Aliki-Eleni Farmaki,Jessica D. Faul,Mary F. Feitosa,Shuang Feng,Ele Ferrannini,Marco M Ferrario,Jean Ferrières,Jose C. Florez,Ian Ford,Myriam Fornage,Paul W. Franks,Ruth Frikke-Schmidt,Tessel E. Galesloot,Wei Gan,Ilaria Gandin,Paolo Gasparini,Vilmantas Giedraitis,Ayush Giri,Giorgia Girotto,Scott D. Gordon,Penny Gordon-Larsen,Mathias Gorski,Niels Grarup,Megan L. Grove,Vilmundur Gudnason,Stefan Gustafsson,Torben Hansen,Kathleen Mullan Harris,Tamara B. Harris,Andrew T. Hattersley,Caroline Hayward,Liang He,Iris M. Heid,Kauko Heikkilä,Øyvind Helgeland,Jussi Hernesniemi,Alex W. Hewitt,Lynne J. Hocking,Mette Hollensted,Oddgeir L. Holmen,G. Kees Hovingh,Joanna M. M. Howson,Carel B. Hoyng,Paul L. Huang,Kristian Hveem,M. Arfan Ikram,Erik Ingelsson,Anne U. Jackson,Jan-Håkan Jansson,Gail P. Jarvik,Gorm B. Jensen,Min A. Jhun,Yucheng Jia,Xuejuan Jiang,Stefan Johansson,Marit E. Jørgensen,Torben Jørgensen,Pekka Jousilahti,J. Wouter Jukema,Bratati Kahali,René S. Kahn,Mika Kähönen,Pia R. Kamstrup,Stavroula Kanoni,Jaakko Kaprio,Maria Karaleftheri,Sharon L.R. Kardia,Fredrik Karpe,Frank Kee,Renske Keeman,Lambertus A. Kiemeney,Hidetoshi Kitajima,Kirsten B. Kluivers,Thomas D. Kocher,Pirjo Komulainen,Jukka Kontto,Jaspal S. Kooner,Charles Kooperberg,Peter Kovacs,Jennifer Kriebel,Helena Kuivaniemi,Sébastien Küry,Johanna Kuusisto,Martina La Bianca,Markku Laakso,Timo A. Lakka,Ethan M. Lange,Leslie A. Lange,Carl D. Langefeld,Claudia Langenberg,Eric B. Larson,I-Te Lee,Terho Lehtimäki,Cora E. Lewis,Huaixing Li,Jin Li,Ruifang Li-Gao,Honghuang Lin,Li-An Lin,Xu Lin,Lars Lind,Jaana Lindström,Allan Linneberg,Y Liu,Yongmei Liu,Artitaya Lophatananon,Jian'an Luan,Steven A. Lubitz,Leo-Pekka Lyytikäinen,David A. Mackey,Pamela A. F. Madden,Alisa K. Manning,Satu Männistö,Gaëlle Marenne,Jonathan Marten,Nicholas G. Martin,Angela L. Mazul,Karina Meidtner,Andres Metspalu,Paul Mitchell,Karen L. Mohlke,Dennis O. Mook-Kanamori,Anna Morgan,Andrew D. Morris,Andrew P. Morris,Martina Mueller-Nurasyid,Patricia B. Munroe,Mike A. Nalls,Matthias Nauck,Christopher P. Nelson,Matt Neville,Sune F. Nielsen,Kjell Nikus,Pål R. Njølstad,Børge G. Nordestgaard,Ioanna Ntalla,Jeffrey R. O'Connel,Heikki Oksa,Loes M. Olde Loohuis,Roel A. Ophoff,Katharine R. Owen,Chris J. Packard,Sandosh Padmanabhan,Colin N. A. Palmer,Gerard Pasterkamp,Aniruddh P. Patel,Alison Pattie,Oluf Pedersen,Peggy L. Peissig,Gina M. Peloso,Craig E. Pennell,Markus Perola,James A. Perry,John R. B. Perry,Thomas N. Person,Ailith Pirie,Ozren Polasek,Danielle Posthuma,Olli T. Raitakari,Asif Rasheed,Rainer Rauramaa,Dermot F. Reilly,Alexander P. Reiner,Frida Renström,Paul M. Ridker,John D. Rioux,Neil Robertson,Antonietta Robino,Olov Rolandsson,Igor Rudan,Katherine S. Ruth,Danish Saleheen,Veikko Salomaa,Nilesh J. Samani,Kevin Sandow,Yadav Sapkota,Naveed Sattar,Marjanka K. Schmidt,Pamela J. Schreiner,Matthias B. Schulze,Robert A. Scott,Marcelo P. Segura-Lepe,Svati H. Shah,Xueling Sim,Suthesh Sivapalaratnam,Kerrin S. Small,Albert V. Smith,Jennifer A. Smith,Lorraine Southam,Tim D. Spector,Elizabeth K. Speliotes,John M. Starr,Valgerdur Steinthorsdottir,Heather M. Stringham,Michael Stumvoll,Praveen Surendran,Leen M 't Hart,Katherine E. Tansey,Jean-Claude Tardif,Kent D. Taylor,Alexander Teumer,Deborah J. Thompson,Unnur Thorsteinsdottir,Betina H. Thuesen,Anke Toenjes,Gerard Tromp,Stella Trompet,Emmanouil Tsafantakis,Jaakko Tuomilehto,Anne Tybjærg-Hansen,Jonathan Tyrer,Rudolf Uher,André G. Uitterlinden,Sheila Ulivi,Sander W. van der Laan,Andries R. van der Leij,Cornelia M. van Duijn,Natasja M. van Schoor,Jessica van Setten,Anette Varbo,Tibor V. Varga,Rohit Varma,Digna R. Velez Edwards,Sita H. Vermeulen,Henrik Vestergaard,Veronique Vitart,Thomas F. Vogt,Diego Vozzi,Mark Walker,Feijie Wang,Carol A. Wang,Shuai Wang,Yiqin Wang,Nicholas J. Wareham,Helen R. Warren,Jennifer Wessel,Sara M. Willems,James G. Wilson,Daniel R. Witte,Michael O. Woods,Ying Wu,Hanieh Yaghootkar,Jie Yao,Pang Yao,Laura M. Yerges-Armstrong,Robin Young,Eleftheria Zeggini,Xiaowei Zhan,Weihua Zhang,Jing Hua Zhao,Wei Zhao,He Zheng,Wei Zhou,Jerome I. Rotter,Michael Boehnke,Sekar Kathiresan,Mark I. McCarthy,Cristen J. Willer,Kari Stefansson,Ingrid B. Borecki,Dajiang J. Liu,Kari E. North,Nancy L. Heard-Costa,Tune H. Pers,Cecilia M. Lindgren,Claus Oxvig,Zoltán Kutalik,Fernando Rivadeneira,Ruth J. F. Loos,Timothy M. Frayling,Joel N. Hirschhorn,Panos Deloukas,Guillaume Lettre +370 more
TL;DR: The results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
Journal ArticleDOI
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study
Philip C Haycock,Stephen Burgess,Aayah Nounu,Jie Zheng,G N Okoli,Jack Bowden,Kaitlin H Wade,Nicholas J. Timpson,David M. Evans,Peter Willeit,Abraham Aviv,Tom R. Gaunt,Gibran Hemani,Massimo Mangino,Hayley P Ellis,Kathreena M Kurian,Karen A. Pooley,Rosalind A. Eeles,Jeffrey E. Lee,Shenying Fang,Wei V. Chen,Matthew Law,Lisa Bowdler,Mark M. Iles,Qiong Yang,Bradford B. Worrall,Hugh S. Markus,Rayjean J. Hung,Christopher I. Amos,Amanda B. Spurdle,Deborah J. Thompson,Tracy A. O'Mara,Brian M. Wolpin,Laufey T. Amundadottir,Rachael Z. Stolzenberg-Solomon,Antonia Trichopoulou,N. Charlotte Onland-Moret,Eiliv Lund,Eric J. Duell,Federico Canzian,Gianluca Severi,Kim Overvad,Marc J. Gunter,Rosario Tumino,Ulrika Svenson,Andre M. van Rij,Annette F. Baas,Matthew J. Bown,Nilesh J. Samani,Femke N G van t'Hof,Gerard Tromp,Gregory T. Jones,Helena Kuivaniemi,James R. Elmore,Mattias Johansson,James McKay,Ghislaine Scelo,Robert Carreras-Torres,Valerie Gaborieau,Paul Brennan,Paige M. Bracci,Rachel E. Neale,Sara H. Olson,Steven Gallinger,Donghui Li,Gloria M. Petersen,Harvey A. Risch,Alison P. Klein,Jiali Han,Christian C. Abnet,Neal D. Freedman,Philip R. Taylor,John M. Maris,Katja K.H. Aben,Lambertus A. Kiemeney,Sita H. Vermeulen,John K. Wiencke,Kyle M. Walsh,Margaret Wrensch,Terri Rice,Clare Turnbull,Kevin Litchfield,Lavinia Paternoster,Marie Standl,Gonçalo R. Abecasis,John Paul SanGiovanni,Yong Li,Vladan Mijatovic,Yadav Sapkota,Siew-Kee Low,Krina T. Zondervan,Grant W. Montgomery,Dale R. Nyholt,David A. van Heel,Karen A. Hunt,Dan E. Arking,Foram N. Ashar,Nona Sotoodehnia,Daniel Woo,Jonathan Rosand,Mary E. Comeau,W. Mark Brown,Edwin K. Silverman,John E. Hokanson,Michael H. Cho,Jennie Hui,Manuel A. R. Ferreira,Philip J. Thompson,Alanna C. Morrison,Janine F. Felix,Nicholas L. Smith,Angela M. Christiano,Lynn Petukhova,Regina C. Betz,Xing Fan,Xuejun Zhang,Caihong Zhu,Carl D. Langefeld,Susan D. Thompson,Feijie Wang,Xu Lin,David A. Schwartz,Tasha E. Fingerlin,Jerome I. Rotter,Mary Frances Cotch,Richard A. Jensen,Matthias Munz,Henrik Dommisch,Arne S. Schaefer,Fang Han,Hanna Ollila,Ryan P. Hillary,Omar M. E. Albagha,Stuart H. Ralston,Chenjie Zeng,Wei Zheng,Xiao-Ou Shu,André Reis,Steffen Uebe,Ulrike Hüffmeier,Yoshiya Kawamura,Takeshi Otowa,Tsukasa Sasaki,Martin L. Hibberd,Sonia Davila,Gang Xie,Katherine A. Siminovitch,Jin-Xin Bei,Yi Xin Zeng,Asta Försti,Bowang Chen,Stefano Landi,Andre Franke,Annegret Fischer,David Ellinghaus,Carlos Flores,Imre Noth,Shwu-Fan Ma,Jia Nee Foo,Jianjun Liu,Jong-Won Kim,David G. Cox,Olivier Delattre,Olivier Mirabeau,Christine F. Skibola,Clara S. Tang,Merce Garcia-Barcelo,Kai-Ping Chang,Wen-Hui Su,Yu-Sun Chang,Nicholas G. Martin,Scott D. Gordon,Tracey D. Wade,Chaeyoung Lee,Michiaki Kubo,Pei-Chieng Cha,Yusuke Nakamura,Daniel Levy,Masayuki Kimura,Shih-Jen Hwang,Steven C. Hunt,Tim D. Spector,Nicole Soranzo,Ani Manichaikul,R. Graham Barr,Bratati Kahali,Elizabeth K. Speliotes,Laura M. Yerges-Armstrong,Ching-Yu Cheng,Jost B. Jonas,Tien Yin Wong,Isabella Fogh,Kuang Lin,John Powell,Kenneth Rice,Caroline L Relton,Richard M. Martin,George Davey Smith +197 more
TL;DR: It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases, as well as single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population.