P
Pier Angelica Merlini
Publications - 12
Citations - 4999
Pier Angelica Merlini is an academic researcher. The author has contributed to research in topics: Genome-wide association study & Exome. The author has an hindex of 11, co-authored 12 publications receiving 4574 citations.
Papers
More filters
Journal ArticleDOI
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Heribert Schunkert,Inke R. König,Sekar Kathiresan,Muredach P. Reilly,Themistocles L. Assimes,Hilma Holm,Michael Preuss,Alexandre F.R. Stewart,Maja Barbalić,Christian Gieger,Devin Absher,Zouhair Aherrahrou,Hooman Allayee,David Altshuler,Sonia S. Anand,Karl Andersen,Jeffrey L. Anderson,Diego Ardissino,Stephen G. Ball,Anthony J. Balmforth,Timothy A. Barnes,Diane M. Becker,Lewis C. Becker,Klaus Berger,Joshua C. Bis,S. Matthijs Boekholdt,Eric Boerwinkle,Peter S. Braund,Morris J. Brown,Mary Susan Burnett,Ian Buysschaert,John F. Carlquist,Li Chen,Sven Cichon,Veryan Codd,Robert W. Davies,George Dedoussis,Abbas Dehghan,Serkalem Demissie,Joseph M. Devaney,Patrick Diemert,Ron Do,Angela Doering,Sandra Eifert,Nour Eddine El Mokhtari,Stephen G. Ellis,Roberto Elosua,James C. Engert,Stephen E. Epstein,Ulf de Faire,Marcus Fischer,Aaron R. Folsom,Jennifer Freyer,Bruna Gigante,Domenico Girelli,Solveig Gretarsdottir,Vilmundur Gudnason,Jeffrey R. Gulcher,Eran Halperin,Naomi Hammond,Stanley L. Hazen,Albert Hofman,Benjamin D. Horne,Thomas Illig,Carlos Iribarren,Gregory T. Jones,J. Wouter Jukema,Michael A. Kaiser,Lee M. Kaplan,John J.P. Kastelein,Kay-Tee Khaw,Joshua W. Knowles,G. Kolovou,Augustine Kong,Reijo Laaksonen,Diether Lambrechts,Karin Leander,Guillaume Lettre,Mingyao Li,Wolfgang Lieb,Christina Loley,Andrew J. Lotery,Pier Mannuccio Mannucci,Seraya Maouche,Nicola Martinelli,Pascal P. McKeown,Christa Meisinger,Thomas Meitinger,Olle Melander,Pier Angelica Merlini,Vincent Mooser,Thomas M. Morgan,Thomas W. Mühleisen,Joseph B. Muhlestein,Thomas Münzel,Kiran Musunuru,Janja Nahrstaedt,Christopher P. Nelson,Markus M. Nöthen,Oliviero Olivieri,Riyaz S. Patel,Christopher Patterson,Annette Peters,Flora Peyvandi,Liming Qu,Arshed A. Quyyumi,Daniel J. Rader,Loukianos S. Rallidis,Catherine M. Rice,Frits R. Rosendaal,Diana Rubin,Veikko Salomaa,M. Lourdes Sampietro,M. S. Sandhu,Eric E. Schadt,Arne Scḧsignfer,Arne Schillert,Stefan Schreiber,Jürgen Schrezenmeir,Stephen M. Schwartz,David S. Siscovick,Mohan U. Sivananthan,Suthesh Sivapalaratnam,Albert V. Smith,Tamara B. Smith,Jaapjan D. Snoep,Nicole Soranzo,John A. Spertus,Klaus Stark,Kathy Stirrups,Monika Stoll,W.H. Wilson Tang,Stephanie Tennstedt,Gudmundur Thorgeirsson,Gudmar Thorleifsson,Maciej Tomaszewski,André G. Uitterlinden,Andre M. van Rij,Benjamin F. Voight,Nicholas J. Wareham,George A. Wells,H.-Erich Wichmann,Philipp S. Wild,Christina Willenborg,Jaqueline C M Witteman,Benjamin J. Wright,Shu Ye,Tanja Zeller,Andreas Ziegler,François Cambien,Alison H. Goodall,L. Adrienne Cupples,Thomas Quertermous,Winfried Mäsignrz,Christian Hengstenberg,Stefan Blankenberg,Willem H. Ouwehand,Alistair S. Hall,Panos Deloukas,John R. Thompson,Kari Stefansson,Robert Roberts,Unnur Thorsteinsdottir,Christopher J. O'Donnell,Ruth McPherson,Jeanette Erdmann,Nilesh J. Samani +166 more
TL;DR: This paper performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals.
Journal ArticleDOI
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
Sekar Kathiresan,Benjamin F. Voight,Shaun Purcell,Kiran Musunuru,Diego Ardissino,Pier Mannuccio Mannucci,Sonia S. Anand,James C. Engert,Nilesh J. Samani,Heribert Schunkert,Jeanette Erdmann,Muredach P. Reilly,Daniel J. Rader,Thomas M. Morgan,John A. Spertus,Monika Stoll,Domenico Girelli,Pascal P. McKeown,Christopher Patterson,David S. Siscovick,Christopher J. O'Donnell,Roberto Elosua,Leena Peltonen,Veikko Salomaa,Stephen M. Schwartz,Olle Melander,David Altshuler,Pier Angelica Merlini,Carlo Berzuini,Luisa Bernardinelli,Flora Peyvandi,Marco Tubaro,Patrizia Celli,Maurizio Ferrario,Raffaela Fetiveau,Nicola Marziliano,Giorgio Casari,Michele Galli,Flavio Ribichini,Marco Rossi,Francesco Bernardi,Pietro Zonzin,Alberto Piazza,Jean Yee,Yechiel Friedlander,Jaume Marrugat,Gavin Lucas,Isaac Subirana,Joan Sala,Rafael Ramos,James B. Meigs,Gordon H. Williams,David M. Nathan,Calum A. MacRae,Aki S. Havulinna,Göran Berglund,Joel N. Hirschhorn,Rosanna Asselta,Stefano Duga,Marta Spreafico,Mark J. Daly,James Nemesh,Joshua M. Korn,Steven A. McCarroll,Aarti Surti,Candace Guiducci,Lauren Gianniny,Daniel B. Mirel,Melissa Parkin,Noël P. Burtt,Stacey Gabriel,John R. Thompson,Peter S. Braund,Benjamin J. Wright,Anthony J. Balmforth,Stephen G. Ball,Alistair S. Hall,Patrick Linsel-Nitschke,Wolfgang Lieb,Andreas Ziegler,Inke R. König,Christian Hengstenberg,Marcus Fischer,Klaus Stark,Anika Grosshennig,Michael Preuss,H-Erich Wichmann,Stefan Schreiber,Willem H. Ouwehand,Panos Deloukas,Michael Scholz,François Cambien,Mingyao Li,Zhen Chen,Robert L. Wilensky,William H. Matthai,Atif Qasim,Hakon Hakonarson,Joe Devaney,Mary-Susan Burnett,Augusto D. Pichard,Kenneth M. Kent,Lowell F. Satler,Joseph M. Lindsay,Ron Waksman,Stephen E. Epstein,Thomas Scheffold,Klaus Berger,Andreas Huge,Nicola Martinelli,Oliviero Olivieri,Roberto Corrocher,Hilma Holm,Gudmar Thorleifsson,Unnur Thorsteinsdottir,Kari Stefansson,Ron Do,Changchun Xie,David S. Siscovick +118 more
TL;DR: SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with my Cardiovascular Infarction risk.
Journal ArticleDOI
Loss-of-function mutations in APOC3, triglycerides, and coronary disease
Jacy R Crosby,Gina M. Peloso,Gina M. Peloso,Paul L. Auer,David R. Crosslin,Nathan O. Stitziel,Leslie A. Lange,Yingchang Lu,Zheng-Zheng Tang,He Zhang,George Hindy,Nicholas G. D. Masca,Kathleen Stirrups,Stavroula Kanoni,Ron Do,Ron Do,Goo Jun,Youna Hu,Hyun Min Kang,Chenyi Xue,Anuj Goel,Martin Farrall,Stefano Duga,Pier Angelica Merlini,Rosanna Asselta,Domenico Girelli,Oliviero Olivieri,Nicola Martinelli,Wu Yin,Dermot F. Reilly,Elizabeth K. Speliotes,Caroline S. Fox,Kristian Hveem,Oddgeir L. Holmen,Majid Nikpay,Deborah N. Farlow,Themistocles L. Assimes,Nora Franceschini,Jennifer G. Robinson,Kari E. North,Lisa W. Martin,Mark A. DePristo,Namrata Gupta,Stefan A. Escher,Jan-Håkan Jansson,Natalie R. van Zuydam,Colin N. A. Palmer,Nicholas J. Wareham,Werner Koch,Thomas Meitinger,Annette Peters,Wolfgang Lieb,Raimund Erbel,Inke R. König,Jochen Kruppa,Franziska Degenhardt,Omri Gottesman,Erwin P. Bottinger,Christopher J. O'Donnell,Bruce M. Psaty,Bruce M. Psaty,Christie M. Ballantyne,Christie M. Ballantyne,Gonçalo R. Abecasis,Jose M. Ordovas,Jose M. Ordovas,Olle Melander,Hugh Watkins,Marju Orho-Melander,Diego Ardissino,Ruth J. F. Loos,Ruth McPherson,Cristen J. Willer,Jeanette Erdmann,Alistair S. Hall,Nilesh J. Samani,Panos Deloukas,Panos Deloukas,Panos Deloukas,Heribert Schunkert,James G. Wilson,Charles Kooperberg,Stephen S. Rich,Russell P. Tracy,Danyu Lin,David Altshuler,David Altshuler,Stacey Gabriel,Deborah A. Nickerson,Gail P. Jarvik,L. Adrienne Cupples,L. Adrienne Cupples,Alexander P. Reiner,Alexander P. Reiner,Eric Boerwinkle,Sekar Kathiresan,Sekar Kathiresan +96 more
TL;DR: Rare mutations that disrupt AP OC3 function were associated with lower levels of plasma triglycerides and APOC3, and carriers of these mutations were found to have a reduced risk of coronary heart disease.
Journal ArticleDOI
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Ron Do,Ron Do,Nathan O. Stitziel,Hong-Hee Won,Hong-Hee Won,Anders Berg Jørgensen,Stefano Duga,Pier Angelica Merlini,Adam Kiezun,Martin Farrall,Anuj Goel,Or Zuk,Illaria Guella,Rosanna Asselta,Leslie A. Lange,Gina M. Peloso,Gina M. Peloso,Paul L. Auer,Domenico Girelli,Nicola Martinelli,Deborah N. Farlow,Mark A. DePristo,Robert Roberts,Alex Stewart,Danish Saleheen,John Danesh,Stephen E. Epstein,Suthesh Sivapalaratnam,G. Kees Hovingh,John J.P. Kastelein,Nilesh J. Samani,Heribert Schunkert,Jeanette Erdmann,Svati H. Shah,William E. Kraus,Robert W. Davies,Majid Nikpay,Christopher T. Johansen,Jian Wang,Robert A. Hegele,Eliana Hechter,Winfried März,Winfried März,Winfried März,Marcus E. Kleber,Jie Huang,Andrew D. Johnson,Mingyao Li,Greg L. Burke,Myron D. Gross,Yongmei Liu,Themistocles L. Assimes,Gerardo Heiss,Ethan M. Lange,Aaron R. Folsom,Herman A. Taylor,Oliviero Olivieri,Anders Hamsten,Robert Clarke,Dermot F. Reilly,Wu Yin,Manuel A. Rivas,Peter Donnelly,Jacques E. Rossouw,Bruce M. Psaty,Bruce M. Psaty,David M. Herrington,James G. Wilson,Stephen S. Rich,Michael J. Bamshad,Russell P. Tracy,L. Adrienne Cupples,Daniel J. Rader,Muredach P. Reilly,John A. Spertus,Sharon Cresci,Jaana Hartiala,W.H. Wilson Tang,Stanley L. Hazen,Hooman Allayee,Alexander P. Reiner,Alexander P. Reiner,Christopher S. Carlson,Charles Kooperberg,Rebecca D. Jackson,Eric Boerwinkle,Eric S. Lander,Stephen M. Schwartz,Stephen M. Schwartz,David S. Siscovick,Ruth McPherson,Anne Tybjærg-Hansen,Gonçalo R. Abecasis,Hugh Watkins,Deborah A. Nickerson,Diego Ardissino,Shamil R. Sunyaev,Shamil R. Sunyaev,Christopher J. O'Donnell,David Altshuler,David Altshuler,Stacey Gabriel,Sekar Kathiresan,Sekar Kathiresan +103 more
TL;DR: Kathiresan et al. as mentioned in this paper used exome sequencing of nearly 10,000 people to identify alleles associated with early-onset myocardial infarction; mutations in low-density lipoprotein receptor (LDLR) or apolipoprotein A-V (APOA5) were associated with disease risk.
Journal ArticleDOI
Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease
Adam S. Butterworth,Peter S. Braund,Martin Farrall,Robert J. Hardwick,Danish Saleheen,J F Peden,Nicole Soranzo,John C. Chambers,Suthesh Sivapalaratnam,Marcus E. Kleber,Brendan J. Keating,Atif Qasim,Norman Klopp,Jeanette Erdmann,Themistocles L. Assimes,Stephen G. Ball,Anthony J. Balmforth,Timothy A. Barnes,Hanneke Basart,Jens Baumert,Connie R. Bezzina,Eric Boerwinkle,Bernhard O. Boehm,Jessy Brocheton,Peter Bugert,François Cambien,Robert Clarke,Veryan Codd,Rory Collins,David Couper,L. Adrienne Cupples,Jonas S.S.G. de Jong,Patrick Diemert,Kenechi Ejebe,Clara C. Elbers,Paul Elliott,Myriam Fornage,Maria Grazia Franzosi,Philippe M. Frossard,Stephen F. Garner,Anuj Goel,Alison H. Goodall,Christian Hengstenberg,Sarah E. Hunt,John J.P. Kastelein,Olaf H. Klungel,Harald Klüterr,Kerstin Koch,Inke R. König,Angad S. Kooner,Reijo Laaksonen,Mark Lathrop,Mingyao Li,Kiang Liu,Ruth McPherson,Muntaser D. Musameh,Solomon K. Musani,Christopher P. Nelson,Christopher J. O'Donnell,Halit Ongen,George J. Papanicolaou,Annette Peters,Bas J M Peters,Simon C. Potter,Bruce M. Psaty,Liming Qu,Daniel J. Rader,Asif Rasheed,Catherine M. Rice,James Scott,Udo Seedorf,Joban Sehmi,Nona Sotoodehnia,Klaus Stark,Jonathan Stephens,C. Ellen van der Schoot,Yvonne T. van der Schouw,Unnur Thorsteinsdottir,Maciej Tomaszewski,Pim van der Harst,Ramachandran S. Vasan,Arthur A.M. Wilde,Christina Willenborg,Bernhard R. Winkelmann,Moazzam Zaidi,Weihua Zhang,Andreas Ziegler,Paul I.W. de Bakker,Wolfgang Koenig,Winfried März,Mieke D. Trip,Muredach P. Reilly,Sekar Kathiresan,Heribert Schunkert,Anders Hamsten,Alistair S. Hall,Jaspal S. Kooner,Simon G. Thompson,John R. Thompson,Panos Deloukas,Willem H. Ouwehand,Hugh Watkins,John Danesh,Nilesh J. Samani,Timothy A. Barnes,Timothy A. Barnes,Suzanne Rafelt,Nienke Bruinsma,Lukas R.C. Dekker,José P. Henriques,Karel T. Koch,Karel T. Koch,Robbert J. de Winter,Marco Alings,Cor F. Allaart,Anton P.M. Gorgels,Freek W. Verheugt,Martina Mueller,Christa Meisinger,Stephanie DerOhannessian,Nehal N. Mehta,Jane F. Ferguson,Hakon Hakonarson,William H. Matthai,Robert L. Wilensky,Jemma C. Hopewell,Sarah Parish,Pamela Linksted,J. Notman,Hector M. González,A. Young,T. Ostley,A. Munday,N. Goodwin,V. Verdon,Svati H. Shah,Laura K. Cobb,Cathryn Edwards,Carol A. Mathews,R. Gunter,J. Benham,Christopher Davies,M. Cobb,J. Crowther,Arthur Mark Richards,M. Silver,S. Tochlin,S. Mozley,Sarah Clark,M. Radley,K. Kourellias,Per Georg Olsson,Simona Barlera,Gianni Tognoni,Stephan Rust,Gerd Assmann,Simon Heath,Diana Zelenika,Ivo Gut,Fiona Green,John F. Peden,Anette Aly,Karolina Anner,Karin Björklund,Gun Blomgren,Barbro Cederschiöld,Karin Danell-Toverud,Per Eriksson,Ulla Grundstedt,Merja Heinonen,Mai Lis Hellénius,Ferdinand M. van't Hooft,Karin Husman,Jacob Lagercrantz,Anita Larsson,Malin Larsson,Magnus Mossfeldt,Anders Mälarstig,Gunnar O Olsson,Maria Sabater-Lleal,Bengt Sennblad,Angela Silveira,Rona J. Strawbridge,Birgitta Söderholm,John Öhrvik,Khan Shah Zaman,Nadeem Hayat Mallick,Muhammad Azhar,Abdus Samad,M. Ishaq,Nabi Shah,Maria Samuel,Muredach P. Reilly,Muredach P. Reilly,Hilma Holm,Michael Preuss,Alexandre F.R. Stewart,Maja Barbalić,Christian Gieger,Devin Absher,Zouhair Aherrahrou,Hooman Allayee,David Altshuler,Sonia S. Anand,Karl Andersen,Jeffrey L. Anderson,Diego Ardissino,Lewis C. Becker,Diane M. Becker,Klaus Berger,Joshua C. Bis,S. Matthijs Boekholdt,Morris J. Brown,Mary Susan Burnett,Ian Buysschaert,John F. Carlquist,Li Chen,Robert W. Davies,George Dedoussis,Abbas Dehghan,Serkalem Demissie,Joseph M. Devaney,Ron Do,Angela Doering,Nour Eddine El Mokhtari,Stephen G. Ellis,Roberto Elosua,James C. Engert,Stephen E. Epstein,Ulf de Faire,Marcus Fischer,Aaron R. Folsom,Jennifer Freyer,Bruna Gigante,Domenico Girelli,Solveig Gretarsdottir,Vilmundur Gudnason,Jeffrey R. Gulcher,Stephanie Tennstedt,Eran Halperin,Naomi Hammond,Stanley L. Hazen,Albert Hofman,Benjamin D. Horne,Thomas Illig,Carlos Iribarren,Gregory T. Jones,J. Wouter Jukema,Michael A. Kaiser,Lee M. Kaplan,Kay-Tee Khaw,Joshua W. Knowles,G. Kolovou,Augustine Kong,Diether Lambrechts,Karin Leander,Wolfgang Lieb,Guillaume Lettre,Christina Loley,Andrew J. Lotery,Pier Mannuccio Mannucci,Seraya Maouche,Nicola Martinelli,Pascal P. McKeown,Thomas Meitinger,Olle Melander,Pier Angelica Merlini,Vincent Mooser,Thomas M. Morgan,Thomas W. Mühleisen,Joseph B. Muhlestein,Kiran Musunuru,Janja Nahrstaedt,Markus M. Nöthen,Oliviero Olivieri,Flora Peyvandi,Riyaz S. Patel,Christopher Patterson,Arshed A. Quyyumi,Loukianos S. Rallidis,Frits R. Roosendaal,Diana Rubin,Veikko Salomaa,M. Lourdes Sampietro,M. S. Sandhu,Eric E. Schadt,Arne Schäfer,Arne Schillert,Stefan Schreiber,Jürgen Schrezenmeir,Stephen M. Schwartz,David S. Siscovick,Mohan U. Sivananthan,Albert V. Smith,Tamara B. Smith,Jaapjan D. Snoep,John A. Spertus,Kari Stefansson,Kathy Stirrups,Monika Stoll,W.H. Wilson Tang,Gudmundur Thorgeirsson,Gudmar Thorleifsson,André G. Uitterlinden,Andre M. van Rij,Benjamin F. Voight,Nicholas J. Wareham,George A. Wells,H.-Erich Wichmann,Jaqueline C M Witteman,Benjamin J. Wright,Shu Ye,Thomas Quertermous,Stefan Blankenberg,Robert Roberts,N. Charlotte Onland-Moret,Jessica van Setten,W. M. Monique Verschuren,Jolanda M. A. Boer,Cisca Wijmenga,Marten H. Hofker,Anke-Hilse Maitland-van der Zee,Anthonius de Boer,Diederick E. Grobbee,Tony Attwood,Stephanie Belz,Peter S. Braund,Peter S. Braund,Jason D. Cooper,Abi Crisp-Hihn,Nicola Foad,Jay Gracey,Emma Gray,Rhian Gwilliams,Susanne Heimerl,Jennifer Jolley,Unni Krishnan,Heather Lloyd-Jones,Ingrid Lugauer,Per Lundmark,Jasbir S. Moore,David Muir,Elizabeth Murray,Jessica Neudert,David Niblett,Karen O'Leary,Helen Pollard,Angela Rankin,Catherine M. Rice,Hendrik B. Sager,Jennifer G. Sambrook,Gerd Schmitz,Michael Scholz,Laura Schroeder,Ann Christine Syvannen,Chris Wallace +355 more
TL;DR: This large-scale gene-centric analysis has identified several novel genes for CAD that relate to diverse biochemical and cellular functions and clarified the literature with regard to many previously suggested genes.