U54MD007593

NIH – National Institute On Minority Health and Health Disparities

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Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results

Dikilitas, O., Sherafati, A., Saadatagah, S., Satterfield, B. A., Kochan, D. C., Anderson, K. C., Chung, W. K., Hebbring, S. J., Salvati, Z. M., Sharp, R. R., Sturm, A. C., Gibbs, R. A., Rowley, R., Venner, E., Linder, J. E., Jones, L. K., Perez, E. F., Peterson, J. F., Jarvik, G. P., … Kullo, I. J. (2023). Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circulation: Genomic and Precision Medicine, 16(2). https://doi.org/10.1161/circgen.122.003816
Authors:
Ozan Dikilitas
Alborz Sherafati
Seyedmohammad Saadatagah
Benjamin A. Satterfield
David C. Kochan
Katherine Anderson
Wendy K. Chung
Scott J. Hebbring
Zachary M. Salvati
Richard R. Sharp
Amy C. Sturm
Richard A. Gibbs
Robb Rowley
Eric Venner
Jodell E. Linder
Laney K. Jones
Emma Perez
Josh F. Peterson
Gail P. Jarvik
Heidi L. Rehm
Hana Zouk
Dan M. Roden
Marc S. Williams
Teri A. Manolio
Iftikhar J. Kullo
Affiliated Authors:
Wendy K. Chung
Columbia Affiliation:
Subjects:
Cardiovascular Diseases (MeSH)
Hyperlipoproteinemia Type II (MeSH)
Coronary Artery Disease (MeSH)
Cholesterol-lowering Treatment (OpenAlex Topic)
Genomic Studies and Association Analyses (OpenAlex Topic)
Author Keywords:
adult
genomics
hypercholesterolemia
penetrance
prevalence
Grants:
R01HL135879 (NIH – National Heart, Lung, and Blood Institute)
K24HL137010 (NIH – National Heart, Lung, and Blood Institute)
U01HG008666 (NIH – National Human Genome Research Institute)
U01HG008676 (NIH – National Human Genome Research Institute)
U01HG008685 (NIH – National Human Genome Research Institute)
U01HG008664 (NIH – National Human Genome Research Institute)
U01HG008679 (NIH – National Human Genome Research Institute)
U01HG008684 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
U01HG008657 (NIH – National Human Genome Research Institute)
U01HG008673 (NIH – National Human Genome Research Institute)
U01HG008701 (NIH – National Human Genome Research Institute)
U01HG006379 (NIH – National Human Genome Research Institute)
U01HG008672 (NIH – National Human Genome Research Institute)
U54MD007593 (NIH – National Institute On Minority Health and Health Disparities)
Publication Type:
Article
Unique ID:
10.1161/circgen.122.003816
PMID:
37071725
DOI:
10.1161/circgen.122.003816
Journal:
Circulation: Genomic and Precision Medicine
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record
View PubMed Record
View Scopus Record

Record Created:

A saturated map of common genetic variants associated with human height

Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., Sakaue, S., Graff, M., Eliasen, A. U., Jiang, Y., Raghavan, S., Miao, J., Arias, J. D., Graham, S. E., Mukamel, R. E., Spracklen, C. N., Yin, X., Chen, S.-H., Ferreira, T., Highland, H. H., … Hirschhorn, J. N. (2022). A saturated map of common genetic variants associated with human height. Nature, 610(7933), 704–712. https://doi.org/10.1038/s41586-022-05275-y
Authors:
Loïc Yengo
Sailaja Vedantam
Eirini Marouli
Julia Sidorenko
Eric Bartell
Saori Sakaue
Marielisa Graff
Anders U Eliasen
Yunxuan Jiang
Sridharan Raghavan
Jenkai Miao
Joshua D Arias
Sarah E Graham
Ronen E Mukamel
Cassandra N Spracklen
Xianyong Yin
Shyh-Huei Chen
Teresa Ferreira
Heather H Highland
Yingjie Ji
Tugce Karaderi
Kuang Lin
Kreete Lüll
Deborah E Malden
Carolina Medina-Gomez
Moara Machado
Amy Moore
Sina Rüeger
Xueling Sim
Scott Vrieze
Tarunveer S Ahluwalia
Masato Akiyama
Matthew A Allison
Marcus Alvarez
Mette K Andersen
Alireza Ani
Vivek Appadurai
Liubov Arbeeva
Seema Bhaskar
Lawrence F Bielak
Sailalitha Bollepalli
Lori L Bonnycastle
Jette Bork-Jensen
Jonathan P Bradfield
Yuki Bradford
Peter S Braund
Jennifer A Brody
Kristoffer S Burgdorf
Brian E Cade
Hui Cai
Qiuyin Cai
Archie Campbell
Marisa Cañadas-Garre
Eulalia Catamo
Jin-Fang Chai
Xiaoran Chai
Li-Ching Chang
Yi-Cheng Chang
Chien-Hsiun Chen
Alessandra Chesi
Seung Hoan Choi
Ren-Hua Chung
Massimiliano Cocca
Maria Pina Concas
Christian Couture
Gabriel Cuellar-Partida
Rebecca Danning
E Warwick Daw
Frauke Degenhard
Graciela E Delgado
Alessandro Delitala
Ayse Demirkan
Xuan Deng
Poornima Devineni
Alexander Dietl
Maria Dimitriou
Latchezar Dimitrov
Rajkumar Dorajoo
Arif B Ekici
Jorgen E Engmann
Zammy Fairhurst-Hunter
Aliki-Eleni Farmaki
Jessica D Faul
Juan-Carlos Fernandez-Lopez
Lukas Forer
Margherita Francescatto
Sandra Freitag-Wolf
Christian Fuchsberger
Tessel E Galesloot
Yan Gao
Zishan Gao
Frank Geller
Olga Giannakopoulou
Franco Giulianini
Anette P Gjesing
Anuj Goel
Scott D Gordon
Mathias Gorski
Jakob Grove
Xiuqing Guo
Stefan Gustafsson
Jeffrey Haessler
Thomas F Hansen
Aki S Havulinna
Simon J Haworth
Jing He
Nancy Heard-Costa
Prashantha Hebbar
George Hindy
Yuk-Lam A Ho
Edith Hofer
Elizabeth Holliday
Katrin Horn
Whitney E Hornsby
Jouke-Jan Hottenga
Hongyan Huang
Jie Huang
Alicia Huerta-Chagoya
Jennifer E Huffman
Yi-Jen Hung
Shaofeng Huo
Mi Yeong Hwang
Hiroyuki Iha
Daisuke D Ikeda
Masato Isono
Anne U Jackson
Susanne Jäger
Iris E Jansen
Ingegerd Johansson
Jost B Jonas
Anna Jonsson
Torben Jørgensen
Ioanna-Panagiota Kalafati
Masahiro Kanai
Stavroula Kanoni
Line L Kårhus
Anuradhani Kasturiratne
Tomohiro Katsuya
Takahisa Kawaguchi
Rachel L Kember
Katherine A Kentistou
Han-Na Kim
Young Jin Kim
Marcus E Kleber
Maria J Knol
Azra Kurbasic
Marie Lauzon
Phuong Le
Rodney Lea
Jong-Young Lee
Hampton L Leonard
Shengchao A Li
Xiaohui Li
Xiaoyin Li
Jingjing Liang
Honghuang Lin
Shih-Yi Lin
Jun Liu
Xueping Liu
Ken Sin Lo
Jirong Long
Laura Lores-Motta
Jian'an Luan
Valeriya Lyssenko
Leo-Pekka Lyytikäinen
Anubha Mahajan
Vasiliki Mamakou
Massimo Mangino
Ani Manichaikul
Jonathan Marten
Manuel Mattheisen
Laven Mavarani
Aaron F McDaid
Karina Meidtner
Tori L Melendez
Josep M Mercader
Yuri Milaneschi
Jason E Miller
Iona Y Millwood
Pashupati P Mishra
Ruth E Mitchell
Line T Møllehave
Anna Morgan
Soeren Mucha
Matthias Munz
Masahiro Nakatochi
Christopher P Nelson
Maria Nethander
Chu Won Nho
Aneta A Nielsen
Ilja M Nolte
Suraj S Nongmaithem
Raymond Noordam
Ioanna Ntalla
Teresa Nutile
Anita Pandit
Paraskevi Christofidou
Katri Pärna
Marc Pauper
Eva R B Petersen
Liselotte V Petersen
Niina Pitkänen
Ozren Polašek
Alaitz Poveda
Michael H Preuss
Saiju Pyarajan
Laura M Raffield
Hiromi Rakugi
Julia Ramirez
Asif Rasheed
Dennis Raven
Nigel W Rayner
Carlos Riveros
Rebecca Rohde
Daniela Ruggiero
Sanni E Ruotsalainen
Kathleen A Ryan
Maria Sabater-Lleal
Richa Saxena
Markus Scholz
Anoop Sendamarai
Botong Shen
Jingchunzi Shi
Jae Hun Shin
Carlo Sidore
Colleen M Sitlani
Roderick C Slieker
Roelof A J Smit
Albert V Smith
Jennifer A Smith
Laura J Smyth
Lorraine Southam
Valgerdur Steinthorsdottir
Liang Sun
Fumihiko Takeuchi
Divya Sri Priyanka Tallapragada
Kent D Taylor
Bamidele O Tayo
Catherine Tcheandjieu
Natalie Terzikhan
Paola Tesolin
Alexander Teumer
Elizabeth Theusch
Deborah J Thompson
Gudmar Thorleifsson
Paul R H J Timmers
Stella Trompet
Constance Turman
Simona Vaccargiu
Sander W van der Laan
Peter J van der Most
Jan B van Klinken
Jessica van Setten
Shefali S Verma
Niek Verweij
Yogasudha Veturi
Carol A Wang
Chaolong Wang
Lihua Wang
Zhe Wang
Helen R Warren
Wen Bin Wei
Ananda R Wickremasinghe
Matthias Wielscher
Kerri L Wiggins
Bendik S Winsvold
Andrew Wong
Yang Wu
Matthias Wuttke
Rui Xia
Tian Xie
Ken Yamamoto
Jingyun Yang
Jie Yao
Hannah Young
Noha A Yousri
Lei Yu
Lingyao Zeng
Weihua Zhang
Xinyuan Zhang
Jing-Hua Zhao
Wei Zhao
Wei Zhou
Martina E Zimmermann
Magdalena Zoledziewska
Linda S Adair
Hieab H H Adams
Carlos A Aguilar-Salinas
Fahd Al-Mulla
Donna K Arnett
Folkert W Asselbergs
Bjørn Olav Åsvold
John Attia
Bernhard Banas
Stefania Bandinelli
David A Bennett
Tobias Bergler
Dwaipayan Bharadwaj
Ginevra Biino
Hans Bisgaard
Eric Boerwinkle
Carsten A Böger
Klaus Bønnelykke
Dorret I Boomsma
Anders D Børglum
Judith B Borja
Claude Bouchard
Donald W Bowden
Ivan Brandslund
Ben Brumpton
Julie E Buring
Mark J Caulfield
John C Chambers
Giriraj R Chandak
Stephen J Chanock
Nish Chaturvedi
Yii-Der Ida Chen
Zhengming Chen
Ching-Yu Cheng
Ingrid E Christophersen
Marina Ciullo
John W Cole
Francis S Collins
Richard S Cooper
Miguel Cruz
Francesco Cucca
L Adrienne Cupples
Michael J Cutler
Scott M Damrauer
Thomas M Dantoft
Gert J de Borst
Lisette C P G M de Groot
Philip L De Jager
Dominique P V de Kleijn
H Janaka de Silva
George V Dedoussis
Anneke I den Hollander
Shufa Du
Douglas F Easton
Petra J M Elders
A Heather Eliassen
Patrick T Ellinor
Sölve Elmståhl
Jeanette Erdmann
Michele K Evans
Diane Fatkin
Bjarke Feenstra
Mary F Feitosa
Luigi Ferrucci
Ian Ford
Myriam Fornage
Andre Franke
Paul W Franks
Barry I Freedman
Paolo Gasparini
Christian Gieger
Giorgia Girotto
Michael E Goddard
Yvonne M Golightly
Clicerio Gonzalez-Villalpando
Penny Gordon-Larsen
Harald Grallert
Struan F A Grant
Niels Grarup
Lyn Griffiths
Vilmundur Gudnason
Christopher Haiman
Hakon Hakonarson
Torben Hansen
Catharina A Hartman
Andrew T Hattersley
Caroline Hayward
Susan R Heckbert
Chew-Kiat Heng
Christian Hengstenberg
Alex W Hewitt
Haretsugu Hishigaki
Carel B Hoyng
Paul L Huang
Wei Huang
Steven C Hunt
Kristian Hveem
Elina Hyppönen
William G Iacono
Sahoko Ichihara
M Arfan Ikram
Carmen R Isasi
Rebecca D Jackson
Marjo-Riitta Jarvelin
Zi-Bing Jin
Karl-Heinz Jöckel
Peter K Joshi
Pekka Jousilahti
J Wouter Jukema
Mika Kähönen
Yoichiro Kamatani
Kui Dong Kang
Jaakko Kaprio
Sharon L R Kardia
Fredrik Karpe
Norihiro Kato
Frank Kee
Thorsten Kessler
Amit V Khera
Chiea Chuen Khor
Lambertus A L M Kiemeney
Bong-Jo Kim
Eung Kweon Kim
Hyung-Lae Kim
Paulus Kirchhof
Mika Kivimaki
Woon-Puay Koh
Heikki A Koistinen
Genovefa D Kolovou
Jaspal S Kooner
Charles Kooperberg
Anna Köttgen
Peter Kovacs
Adriaan Kraaijeveld
Peter Kraft
Ronald M Krauss
Meena Kumari
Zoltan Kutalik
Markku Laakso
Leslie A Lange
Claudia Langenberg
Lenore J Launer
Loic Le Marchand
Hyejin Lee
Nanette R Lee
Terho Lehtimäki
Huaixing Li
Liming Li
Wolfgang Lieb
Xu Lin
Lars Lind
Allan Linneberg
Ching-Ti Liu
Jianjun Liu
Markus Loeffler
Barry London
Steven A Lubitz
Stephen J Lye
David A Mackey
Reedik Mägi
Patrik K E Magnusson
Gregory M Marcus
Pedro Marques Vidal
Nicholas G Martin
Winfried März
Fumihiko Matsuda
Robert W McGarrah
Matt McGue
Amy Jayne McKnight
Sarah E Medland
Dan Mellström
Andres Metspalu
Braxton D Mitchell
Paul Mitchell
Dennis O Mook-Kanamori
Andrew D Morris
Lorelei A Mucci
Patricia B Munroe
Mike A Nalls
Saman Nazarian
Amanda E Nelson
Matt J Neville
Christopher Newton-Cheh
Christopher S Nielsen
Markus M Nöthen
Claes Ohlsson
Albertine J Oldehinkel
Lorena Orozco
Katja Pahkala
Päivi Pajukanta
Colin N A Palmer
Esteban J Parra
Cristian Pattaro
Oluf Pedersen
Craig E Pennell
Brenda W J H Penninx
Louis Perusse
Annette Peters
Patricia A Peyser
David J Porteous
Danielle Posthuma
Chris Power
Peter P Pramstaller
Michael A Province
Qibin Qi
Jia Qu
Daniel J Rader
Olli T Raitakari
Sarju Ralhan
Loukianos S Rallidis
Dabeeru C Rao
Susan Redline
Dermot F Reilly
Alexander P Reiner
Sang Youl Rhee
Paul M Ridker
Michiel Rienstra
Samuli Ripatti
Marylyn D Ritchie
Dan M Roden
Frits R Rosendaal
Jerome I Rotter
Igor Rudan
Femke Rutters
Charumathi Sabanayagam
Danish Saleheen
Veikko Salomaa
Nilesh J Samani
Dharambir K Sanghera
Naveed Sattar
Börge Schmidt
Helena Schmidt
Reinhold Schmidt
Matthias B Schulze
Heribert Schunkert
Laura J Scott
Rodney J Scott
Peter Sever
Eric J Shiroma
M Benjamin Shoemaker
Xiao-Ou Shu
Eleanor M Simonsick
Mario Sims
Jai Rup Singh
Andrew B Singleton
Moritz F Sinner
J Gustav Smith
Harold Snieder
Tim D Spector
Meir J Stampfer
Klaus J Stark
David P Strachan
Leen M 't Hart
Yasuharu Tabara
Hua Tang
Jean-Claude Tardif
Thangavel A Thanaraj
Nicholas J Timpson
Anke Tönjes
Angelo Tremblay
Tiinamaija Tuomi
Jaakko Tuomilehto
Maria-Teresa Tusié-Luna
Andre G Uitterlinden
Rob M van Dam
Pim van der Harst
Nathalie Van der Velde
Cornelia M van Duijn
Natasja M van Schoor
Veronique Vitart
Uwe Völker
Peter Vollenweider
Henry Völzke
Niels H Wacher-Rodarte
Mark Walker
Ya Xing Wang
Nicholas J Wareham
Richard M Watanabe
Hugh Watkins
David R Weir
Thomas M Werge
Elisabeth Widen
Lynne R Wilkens
Gonneke Willemsen
Walter C Willett
James F Wilson
Tien-Yin Wong
Jeong-Taek Woo
Alan F Wright
Jer-Yuarn Wu
Huichun Xu
Chittaranjan S Yajnik
Mitsuhiro Yokota
Jian-Min Yuan
Eleftheria Zeggini
Babette S Zemel
Wei Zheng
Xiaofeng Zhu
Joseph M Zmuda
Alan B Zonderman
John-Anker Zwart
Daniel I Chasman
Yoon Shin Cho
Iris M Heid
Mark I McCarthy
Maggie C Y Ng
Christopher J O'Donnell
Fernando Rivadeneira
Unnur Thorsteinsdottir
Yan V Sun
E Shyong Tai
Michael Boehnke
Panos Deloukas
Anne E Justice
Cecilia M Lindgren
Ruth J F Loos
Karen L Mohlke
Kari E North
Kari Stefansson
Robin G Walters
Thomas W Winkler
Kristin L Young
Po-Ru Loh
Jian Yang
Tõnu Esko
Themistocles L Assimes
Adam Auton
Goncalo R Abecasis
Cristen J Willer
Adam E Locke
Sonja I Berndt
Guillaume Lettre
Timothy M Frayling
Yukinori Okada
Andrew R Wood
Peter M Visscher
Joel N Hirschhorn
Affiliated Authors:
Philip L De Jager
Danish Saleheen
Columbia Affiliation:
Subjects:
Body Height (MeSH)
Polymorphism, Single Nucleotide (MeSH)
Chromosome Mapping (MeSH)
Grants:
R01HD100406 (NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
R01HD030880 (NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
R01HD074711 (NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
R01HD056465 (NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
R01HD058886 (NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
D43TW009077 (NIH – Fogarty International Center)
U01CA176726 (NIH – National Cancer Institute)
R01CA144034 (NIH – National Cancer Institute)
UM1CA167552 (NIH – National Cancer Institute)
P01CA087969 (NIH – National Cancer Institute)
R01CA064277 (NIH – National Cancer Institute)
P30CA015704 (NIH – National Cancer Institute)
R37CA054281 (NIH – National Cancer Institute)
R01CA128813 (NIH – National Cancer Institute)
U19CA148065 (NIH – National Cancer Institute)
R01CA141298 (NIH – National Cancer Institute)
U19CA148112 (NIH – National Cancer Institute)
UM1CA182913 (NIH – National Cancer Institute)
U19CA148537 (NIH – National Cancer Institute)
U01CA164973 (NIH – National Cancer Institute)
R01CA128978 (NIH – National Cancer Institute)
U01CA188392 (NIH – National Cancer Institute)
R01CA067262 (NIH – National Cancer Institute)
UM1CA182876 (NIH – National Cancer Institute)
UM1CA186107 (NIH – National Cancer Institute)
UM1CA182910 (NIH – National Cancer Institute)
R01CA047988 (NIH – National Cancer Institute)
UM1CA164973 (NIH – National Cancer Institute)
K05CA175147 (NIH – National Cancer Institute)
R01CA080205 (NIH – National Cancer Institute)
U01CA098758 (NIH – National Cancer Institute)
P01CA055075 (NIH – National Cancer Institute)
UL1TR001079 (NIH – National Center for Advancing Translational Sciences)
UL1TR002243 (NIH – National Center for Advancing Translational Sciences)
KL2TR002490 (NIH – National Center for Advancing Translational Sciences)
UL1TR001881 (NIH – National Center for Advancing Translational Sciences)
UL1TR001878 (NIH – National Center for Advancing Translational Sciences)
UL1TR000077 (NIH – National Center for Advancing Translational Sciences)
UL1TR000445 (NIH – National Center for Advancing Translational Sciences)
UL1TR000040 (NIH – National Center for Advancing Translational Sciences)
UL1TR001420 (NIH – National Center for Advancing Translational Sciences)
UL1RR025005 (NIH – National Center for Research Resources)
KL2RR024990 (NIH – National Center for Research Resources)
UL1RR024975 (NIH – National Center for Research Resources)
R01EY022310 (NIH – National Eye Institute)
R01EY014684 (NIH – National Eye Institute)
R01HL103612 (NIH – National Heart, Lung, and Blood Institute)
R01HL142302 (NIH – National Heart, Lung, and Blood Institute)
K08HL135275 (NIH – National Heart, Lung, and Blood Institute)
R01HL092577 (NIH – National Heart, Lung, and Blood Institute)
R01HL085083 (NIH – National Heart, Lung, and Blood Institute)
R01HL113338 (NIH – National Heart, Lung, and Blood Institute)
R01HL086694 (NIH – National Heart, Lung, and Blood Institute)
R01HL086718 (NIH – National Heart, Lung, and Blood Institute)
R01HL119443 (NIH – National Heart, Lung, and Blood Institute)
T32HL007055 (NIH – National Heart, Lung, and Blood Institute)
R01HL120393 (NIH – National Heart, Lung, and Blood Institute)
R01HL149683 (NIH – National Heart, Lung, and Blood Institute)
K25HL150334 (NIH – National Heart, Lung, and Blood Institute)
R01HL117078 (NIH – National Heart, Lung, and Blood Institute)
R01HL104135 (NIH – National Heart, Lung, and Blood Institute)
R01HL153805 (NIH – National Heart, Lung, and Blood Institute)
R35HL135824 (NIH – National Heart, Lung, and Blood Institute)
R03HL154284 (NIH – National Heart, Lung, and Blood Institute)
R35HL135818 (NIH – National Heart, Lung, and Blood Institute)
R01HL111249 (NIH – National Heart, Lung, and Blood Institute)
R01HL151152 (NIH – National Heart, Lung, and Blood Institute)
R01HL091357 (NIH – National Heart, Lung, and Blood Institute)
U19HL065962 (NIH – National Heart, Lung, and Blood Institute)
U01HL130114 (NIH – National Heart, Lung, and Blood Institute)
K24HL105780 (NIH – National Heart, Lung, and Blood Institute)
R01HL157635 (NIH – National Heart, Lung, and Blood Institute)
K01HL135405 (NIH – National Heart, Lung, and Blood Institute)
T32HL129982 (NIH – National Heart, Lung, and Blood Institute)
R01HL095056 (NIH – National Heart, Lung, and Blood Institute)
R01HL105756 (NIH – National Heart, Lung, and Blood Institute)
R01HL139731 (NIH – National Heart, Lung, and Blood Institute)
R01HL108427 (NIH – National Heart, Lung, and Blood Institute)
R01HL053353 (NIH – National Heart, Lung, and Blood Institute)
R01HL087660 (NIH – National Heart, Lung, and Blood Institute)
R01HL085251 (NIH – National Heart, Lung, and Blood Institute)
R01HL087652 (NIH – National Heart, Lung, and Blood Institute)
R01HL085144 (NIH – National Heart, Lung, and Blood Institute)
R01HL080467 (NIH – National Heart, Lung, and Blood Institute)
R01HL088457 (NIH – National Heart, Lung, and Blood Institute)
R01HG003054 (NIH – National Human Genome Research Institute)
U01HG008685 (NIH – National Human Genome Research Institute)
U01HG008701 (NIH – National Human Genome Research Institute)
U01HG008673 (NIH – National Human Genome Research Institute)
U01HG008664 (NIH – National Human Genome Research Institute)
U01HG008666 (NIH – National Human Genome Research Institute)
U01HG008679 (NIH – National Human Genome Research Institute)
U01HG004798 (NIH – National Human Genome Research Institute)
U01HG008676 (NIH – National Human Genome Research Institute)
U01HG008672 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
U01HG008684 (NIH – National Human Genome Research Institute)
U01HG004446 (NIH – National Human Genome Research Institute)
U01HG008657 (NIH – National Human Genome Research Institute)
U01HG006379 (NIH – National Human Genome Research Institute)
U01HG007416 (NIH – National Human Genome Research Institute)
U01HG007376 (NIH – National Human Genome Research Institute)
R01HG010297 (NIH – National Human Genome Research Institute)
R01HG010067 (NIH – National Human Genome Research Institute)
K08HG010155 (NIH – National Human Genome Research Institute)
U01HG006378 (NIH – National Human Genome Research Institute)
U01HG011719 (NIH – National Human Genome Research Institute)
R01HG011052 (NIH – National Human Genome Research Institute)
U01HG004402 (NIH – National Human Genome Research Institute)
U01HG004423 (NIH – National Human Genome Research Institute)
U01HG004438 (NIH – National Human Genome Research Institute)
U01HG004436 (NIH – National Human Genome Research Institute)
R01DK104371 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK107786 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
P30DK063491 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK125187 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK062370 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK089256 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK124097 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK066358 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK110113 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK122503 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK075787 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK118427 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK092127 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
P30DK056350 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK072193 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R21DK105913 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
U01DK105556 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK093757 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK087914 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
U01DK105535 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
P30DK072488 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK101855 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK053591 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
R01DK078150 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
DP2ES030554 (NIH – National Institute of Environmental Health Sciences)
P30ES010126 (NIH – National Institute of Environmental Health Sciences)
P50GM115305 (NIH – National Institute of General Medical Sciences)
RC2GM092618 (NIH – National Institute of General Medical Sciences)
U24MH068457 (NIH – National Institute of Mental Health)
RC2MH089995 (NIH – National Institute of Mental Health)
RC2MH089951 (NIH – National Institute of Mental Health)
R01NS105150 (NIH – National Institute of Neurological Disorders and Stroke)
R01NS100178 (NIH – National Institute of Neurological Disorders and Stroke)
R01NS114045 (NIH – National Institute of Neurological Disorders and Stroke)
U01NS069208 (NIH – National Institute of Neurological Disorders and Stroke)
R01NS032830 (NIH – National Institute of Neurological Disorders and Stroke)
R01NR012459 (NIH – National Institute of Nursing Research)
R01NR013520 (NIH – National Institute of Nursing Research)
U01AG009740 (NIH – National Institute On Aging)
U01AG023712 (NIH – National Institute On Aging)
R01AG034454 (NIH – National Institute On Aging)
P30AG010161 (NIH – National Institute On Aging)
R01AG030146 (NIH – National Institute On Aging)
R01AG017917 (NIH – National Institute On Aging)
R01AG028050 (NIH – National Institute On Aging)
R01AG023629 (NIH – National Institute On Aging)
U01AG023744 (NIH – National Institute On Aging)
U01AG023746 (NIH – National Institute On Aging)
K07AG061256 (NIH – National Institute On Aging)
R01AG056477 (NIH – National Institute On Aging)
U19AG063893 (NIH – National Institute On Aging)
P30AG072975 (NIH – National Institute On Aging)
RF1AG015819 (NIH – National Institute On Aging)
R01AG065357 (NIH – National Institute On Aging)
U01AG023749 (NIH – National Institute On Aging)
U01AG023755 (NIH – National Institute On Aging)
R01AG015819 (NIH – National Institute On Aging)
U01AG046152 (NIH – National Institute On Aging)
RC4AG039029 (NIH – National Institute On Aging)
RC2AG036495 (NIH – National Institute On Aging)
R01AA012502 (NIH – National Institute On Alcohol Abuse and Alcoholism)
R37AA009367 (NIH – National Institute On Alcohol Abuse and Alcoholism)
R01AA015416 (NIH – National Institute On Alcohol Abuse and Alcoholism)
R01AA009367 (NIH – National Institute On Alcohol Abuse and Alcoholism)
K02AA018755 (NIH – National Institute On Alcohol Abuse and Alcoholism)
R37AA012502 (NIH – National Institute On Alcohol Abuse and Alcoholism)
R01DA042755 (NIH – National Institute On Drug Abuse)
R37DA005147 (NIH – National Institute On Drug Abuse)
R01DA037904 (NIH – National Institute On Drug Abuse)
R01DA036216 (NIH – National Institute On Drug Abuse)
R01DA012854 (NIH – National Institute On Drug Abuse)
R01DA044283 (NIH – National Institute On Drug Abuse)
U54MD007593 (NIH – National Institute On Minority Health and Health Disparities)
R01MD009164 (NIH – National Institute On Minority Health and Health Disparities)
S10OD017985 (NIH – Office of the Director, National Institutes of Health)
IK2CX001780 (NIH – Veterans Affairs)
IK2CX001907 (NIH – Veterans Affairs)
Publication Type:
Article
Unique ID:
10.1038/s41586-022-05275-y
PMID:
36224396
DOI:
10.1038/s41586-022-05275-y
Journal:
Nature
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Web of Science Record

Record Created:

Do research participants share genomic screening results with family members?

Wynn, J., Milo Rasouly, H., Vasquez‐Loarte, T., Saami, A. M., Weiss, R., Ziniel, S. I., Appelbaum, P. S., Wright Clayton, E., Christensen, K. D., Fasel, D., Green, R. C., Hain, H. S., Harr, M., Hoell, C., Kullo, I. J., Leppig, K. A., Myers, M. F., Pacyna, J. E., Perez, E. F., … Holm, I. A. (2021). Do research participants share genomic screening results with family members? Journal of Genetic Counseling, 31(2), 447–458. Portico. https://doi.org/10.1002/jgc4.1511
Authors:
Julia Wynn
Hila Milo Rasouly
Tania Vasquez-Loarte
Akilan M. Saami
Robyn Weiss
Sonja I. Ziniel
Paul S. Appelbaum
Ellen Wright Clayton
Kurt D. Christensen
David Fasel
Robert C. Green
Heather S. Hain
Margaret Harr
Christin Hoell
Iftikhar J Kullo
Kathleen A. Leppig
Melanie F. Myers
Joel E. Pacyna
Emma F. Perez
Cynthia A. Prows
Alanna Kulchak Rahm
Gemme Campbell-Salome
Richard R. Sharp
Maureen E Smith
Georgia L. Wiesner
Janet L. Williams
Carrie L. Blout Zawatsky
Ali G. Gharavi
Wendy K. Chung
Ingrid A. Holm
Affiliated Authors:
Julia Wynn
Hila Milo Rasouly
Tania Vasquez-Loarte
Akilan M. Saami
Robyn Weiss
Paul S. Appelbaum
David Fasel
Ali G. Gharavi
Wendy K. Chung
Columbia Affiliation:
Subjects:
Family (MeSH)
Genomics (MeSH)
Author Keywords:
cascade testing
communication
family
population screening
predictive genetic testing
Grants:
U01HG008673 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
U01HG008676 (NIH – National Human Genome Research Institute)
U01HG008666 (NIH – National Human Genome Research Institute)
U01HG008679 (NIH – National Human Genome Research Institute)
U01HG008684 (NIH – National Human Genome Research Institute)
U01HG011172 (NIH – National Human Genome Research Institute)
U01HG008672 (NIH – National Human Genome Research Institute)
U01HG008664 (NIH – National Human Genome Research Institute)
U01HG006379 (NIH – National Human Genome Research Institute)
U01HG008685 (NIH – National Human Genome Research Institute)
U01HG008657 (NIH – National Human Genome Research Institute)
U01HG008701 (NIH – National Human Genome Research Institute)
U54MD007593 (NIH – National Institute On Minority Health and Health Disparities)
Publication Type:
Article
Unique ID:
10.1002/jgc4.1511
PMID:
34665896
DOI:
10.1002/jgc4.1511
Journal:
Journal of Genetic Counseling
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record
View Web of Science Record

Record Created:

MicroRNA-21 deficiency suppresses prostate cancer progression through downregulation of the IRS1-SREBP-1 signaling pathway

Kanagasabai, T., Li, G., Shen, T. H., Gladoun, N., Castillo-Martin, M., Celada, S. I., Xie, Y., Brown, L. K., Mark, Z. A., Ochieng, J., Ballard, B. R., Cordon-Cardo, C., Adunyah, S. E., Jin, R., Matusik, R. J., & Chen, Z. (2022). MicroRNA-21 deficiency suppresses prostate cancer progression through downregulation of the IRS1-SREBP-1 signaling pathway. Cancer Letters, 525, 46–54. https://doi.org/10.1016/j.canlet.2021.09.041
Authors:
Thanigaivelan Kanagasabai
Guoliang Li
Tian Huai Shen
Nataliya Gladoun
Mireia Castillo-Martin
Sherly I. Celada
Yingqiu Xie
Lakendria K. Brown
Zaniya A. Mark
Josiah Ochieng
Billy R. Ballard
Carlos Cordon-Cardo
Samuel E. Adunyah
Renjie Jin
Robert J. Matusik
Zhenbang Chen
Affiliated Authors:
Tian Huai Shen
Nataliya Gladoun
Mireia Castillo-Martin
Carlos Cordon-Cardo
Columbia Affiliation:
Subjects:
Insulin Receptor Substrate Proteins (MeSH)
MicroRNAs (MeSH)
Prostatic Neoplasms (MeSH)
Sterol Regulatory Element Binding Protein 1 (MeSH)
Author Keywords:
acc
fasn
fatty acid signaling and mouse models
pten
tp53
Grants:
U54CA163069 (NIH – National Cancer Institute)
UL1TR000445 (NIH – National Center for Advancing Translational Sciences)
U54MD007593 (NIH – National Institute On Minority Health and Health Disparities)
Publication Type:
Article
Unique ID:
10.1016/j.canlet.2021.09.041
PMID:
34610416
DOI:
10.1016/j.canlet.2021.09.041
Journal:
Cancer Letters
Publication Date:
Data Source:
Scopus
Source Link:
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View Web of Science Record
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Record Created:

Medical records-based genetic studies of the complement system

Khan, A., Shang, N., Petukhova, L., Zhang, J., Shen, Y., Hebbring, S. J., Moncrieffe, H., Kottyan, L. C., Namjou-Khales, B., Knevel, R., Raychaudhuri, S., Karlson, E. W., Harley, J. B., Stanaway, I. B., Crosslin, D., Denny, J. C., Elkind, M. S. V., Gharavi, A. G., Hripcsak, G., … Kiryluk, K. (2021). Medical Records-Based Genetic Studies of the Complement System. Journal of the American Society of Nephrology, 32(8), 2031–2047. https://doi.org/10.1681/asn.2020091371
Authors:
Atlas Khan
Ning Shang
Lynn Petukhova
Jun Zhang
Yufeng Shen
Scott J. Hebbring
Halima Moncrieffe
Leah C. Kottyan
Bahram Namjou-Khales
Rachel Knevel
Soumya Raychaudhuri
Elizabeth W. Karlson
John B. Harley
Ian B. Stanaway
David Crosslin
Joshua C. Denny
Mitchell S.V. Elkind
Ali G. Gharavi
George Hripcsak
Chunhua Weng
Krzysztof Kiryluk
Affiliated Authors:
Atlas Khan
Ning Shang
Lynn Petukhova
Jun Zhang
Yufeng Shen
Mitchell S.V. Elkind
Ali G. Gharavi
George Hripcsak
Chunhua Weng
Krzysztof Kiryluk
Columbia Affiliation:
Subjects:
Role of Complement System in Immune Response (OpenAlex Topic)
Diseases Related to Blood Group Variants (OpenAlex Topic)
Pathophysiology of Glomerular Diseases and Nephrotic Syndromes (OpenAlex Topic)
Complement C3 (MeSH)
Genetic Variation (MeSH)
Medical Records (MeSH)
Author Keywords:
autoimmunity
complement system
electronic health records
genome wide association study
phenome wide association study
Grants:
U01HG008666 (NIH – National Human Genome Research Institute)
U01HG008676 (NIH – National Human Genome Research Institute)
ZIAHG200417 (NIH – National Human Genome Research Institute)
U01HG008679 (NIH – National Human Genome Research Institute)
U01HG008684 (NIH – National Human Genome Research Institute)
U01HG008664 (NIH – National Human Genome Research Institute)
U01HG008672 (NIH – National Human Genome Research Institute)
U01HG008657 (NIH – National Human Genome Research Institute)
U01HG006379 (NIH – National Human Genome Research Institute)
U01HG008701 (NIH – National Human Genome Research Institute)
U01HG008685 (NIH – National Human Genome Research Institute)
U01HG008673 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
R01AI024717 (NIH – National Institute of Allergy and Infectious Diseases)
U54MD007593 (NIH – National Institute On Minority Health and Health Disparities)
Publication Type:
Article
Unique ID:
10.1681/ASN.2020091371
PMID:
33941608
DOI:
10.1681/ASN.2020091371
Journal:
Journal of the American Society of Nephrology
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View Web of Science Record
View PubMed Record
View OpenAlex Record

Record Created:

Genomic considerations for FHIR®; eMERGE implementation lessons

Murugan, M., Babb, L. J., Overby Taylor, C., Rasmussen, L. V., Freimuth, R. R., Venner, E., Yan, F., Yi, V., Granite, S. J., Zouk, H., Aronson, S. J., Power, K., Fedotov, A., Crosslin, D. R., Fasel, D., Jarvik, G. P., Hakonarson, H., Bangash, H., Kullo, I. J., … Gibbs, R. A. (2021). Genomic considerations for FHIR®; eMERGE implementation lessons. Journal of Biomedical Informatics, 118, 103795. https://doi.org/10.1016/j.jbi.2021.103795
Authors:
Mullai Murugan
Lawrence J Babb
Casey Overby Taylor
Luke V Rasmussen
Robert R Freimuth
Eric Venner
Fei Yan
Victoria Yi
Stephen J Granite
Hana Zouk
Samuel J Aronson
Kevin Power
Alex Fedotov
David R Crosslin
David Fasel
Gail P Jarvik
Hakon Hakonarson
Hana Bangash
Iftikhar J Kullo
John J Connolly
Jordan G Nestor
Pedro J Caraballo
WeiQi Wei
Ken Wiley
Heidi L Rehm
Richard A Gibbs
Affiliated Authors:
Alex Fedotov
David Fasel
Jordan G Nestor
Columbia Affiliation:
Subjects:
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Genomic Landscape of Cancer and Mutational Signatures (OpenAlex Topic)
Electronic Health Records (MeSH)
Medical Informatics (MeSH)
Author Keywords:
hl7 (r) fhir (r) standard
clinical genomics
genetic test results
interoperability
electronic health record (ehr)
clinical decision support
hl7® fhir® standard
Grants:
U01HG008685 (NIH – National Human Genome Research Institute)
U01HG008701 (NIH – National Human Genome Research Institute)
U01HG008664 (NIH – National Human Genome Research Institute)
U01HG008673 (NIH – National Human Genome Research Institute)
U01HG008666 (NIH – National Human Genome Research Institute)
U01HG008684 (NIH – National Human Genome Research Institute)
U01HG008676 (NIH – National Human Genome Research Institute)
U01HG008657 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
U01HG008672 (NIH – National Human Genome Research Institute)
U01HG006379 (NIH – National Human Genome Research Institute)
U01HG008679 (NIH – National Human Genome Research Institute)
T32DK108741 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
U54MD007593 (NIH – National Institute On Minority Health and Health Disparities)
Publication Type:
Article
Unique ID:
10.1016/j.jbi.2021.103795
PMID:
33930535
DOI:
10.1016/j.jbi.2021.103795
Journal:
Journal of Biomedical Informatics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record
View Web of Science Record

Record Created:

Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network

Khan, S. S., Hoell, C., Castillo, L. M., Connolly, J. J., Crosslin, D. R., Chung, W. K., Gordon, A. S., Harr, M., Jarvik, G. P., Kullo, I., Larson, E. B., Leppig, K. A., Manolio, T., Pacheco, J. A., Ralston, J. D., Puckelwartz, M. J., Smith, M. E., Wells, Q., McNally, E. M., & Rasmussen-Torvik, L. J. (2021). Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network. Circulation: Heart Failure, 14(5). https://doi.org/10.1161/circheartfailure.120.008155
Authors:
Sadiya S. Khan
Christin Hoell
Lisa M. Castillo
John J. Connolly
David R. Crosslin
Wendy K. Chung
Adam S. Gordon
Margaret Harr
Gail P. Jarvik
Iftikhar Kullo
Eric B. Larson
Kathleen A. Leppig
Teri Manolio
Jennifer A. Pacheco
James D. Ralston
Megan J. Puckelwartz
Maureen E. Smith
Quinn Wells
Elizabeth M. McNally
Laura J. Rasmussen-Torvik
Affiliated Authors:
Wendy K. Chung
Columbia Affiliation:
Author Keywords:
cardiomyopathies
diagnosis
genetics
medical records
population
Grants:
KL2TR001424 (NIH – National Center for Advancing Translational Sciences)
R01HL128075 (NIH – National Heart, Lung, and Blood Institute)
U01HG008664 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
U01HG006379 (NIH – National Human Genome Research Institute)
U01HG008701 (NIH – National Human Genome Research Institute)
U01HG008684 (NIH – National Human Genome Research Institute)
U01HG011169 (NIH – National Human Genome Research Institute)
U01HG008685 (NIH – National Human Genome Research Institute)
U01HG008673 (NIH – National Human Genome Research Institute)
U01HG008679 (NIH – National Human Genome Research Institute)
U01HG008657 (NIH – National Human Genome Research Institute)
U01HG008676 (NIH – National Human Genome Research Institute)
U01HG008672 (NIH – National Human Genome Research Institute)
U01HG008666 (NIH – National Human Genome Research Institute)
U54MD007593 (NIH – National Institute On Minority Health and Health Disparities)
Publication Type:
Article
Unique ID:
10.1161/CIRCHEARTFAILURE.120.008155
PMID:
33951936
DOI:
10.1161/CIRCHEARTFAILURE.120.008155
Journal:
Circulation: Heart Failure
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record

Record Created:

CSV