Showing 1–41 of 41 results
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Amendments and Corrections |
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Reviews |
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Research | | Open
Clinical outcomes of a genomic screening program for actionable genetic conditions
- Adam H. Buchanan
- , H. Lester Kirchner
- , Marci L. B. Schwartz
- , Melissa A. Kelly
- , Tara Schmidlen
- , Laney K. Jones
- , Miranda L. G. Hallquist
- , Heather Rocha
- , Megan Betts
- , Rachel Schwiter
- , Loren Butry
- , Amanda L. Lazzeri
- , Lauren R. Frisbie
- , Alanna Kulchak Rahm
- , Jing Hao
- , Huntington F. Willard
- , Christa L. Martin
- , David H. Ledbetter
- , Marc S. Williams
- & Amy C. Sturm
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Research | | Open
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants
- Bahram Namjou
- , Ian B. Stanaway
- , Todd Lingren
- , Frank D. Mentch
- , Barbara Benoit
- , Ozan Dikilitas
- , Xinnan Niu
- , Ning Shang
- , Ashley H. Shoemaker
- , David J. Carey
- , Tooraj Mirshahi
- , Rajbir Singh
- , Jordan G. Nestor
- , Hakon Hakonarson
- , Joshua C. Denny
- , David R. Crosslin
- , Gail P. Jarvik
- , Iftikhar J. Kullo
- , Marc S. Williams
- & John B. Harley
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Research |
Frequency of genomic secondary findings among 21,915 eMERGE network participants
- Adam S. Gordon
- , Hana Zouk
- , Eric Venner
- , Christine M. Eng
- , Birgit H. Funke
- , Laura M. Amendola
- , David S. Carrell
- , Rex L. Chisholm
- , Wendy K. Chung
- , Joshua C. Denny
- , Alexander Fedotov
- , Hakon Hakonarson
- , Iftikhar J. Kullo
- , Eric B. Larson
- , Magalie S. Leduc
- , Kathleen A. Leppig
- , Niall J. Lennon
- , Jodell E. Linder
- , Donna M. Muzny
- , Cynthia A. Prows
- , Laura J. Rasmussen-Torvik
- , Hila Milo Rasouly
- , Dan M. Roden
- , Elisabeth A. Rosenthal
- , Maureen E. Smith
- , Ian B. Stanaway
- , Sara L. Van Driest
- , Kimberly Walker
- , Georgia L. Wiesner
- , Marc S. Williams
- , Leora Witkowski
- , David R. Crosslin
- , Richard A. Gibbs
- , Heidi L. Rehm
- & Gail P. Jarvik
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Reviews |
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Research |
Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic
- Miranda L. G. Hallquist
- , Eric P. Tricou
- , Michael N. Hallquist
- , Juliann M. Savatt
- , Heather Rocha
- , Alyson E. Evans
- , Nicole Deckard
- , Yirui Hu
- , H. Lester Kirchner
- , Josie Pervola
- , Alanna Kulchak Rahm
- , Misha Rashkin
- , Tara J. Schmidlen
- , Marci L. B. Schwartz
- , Janet L. Williams
- , Marc S. Williams
- & Adam H. Buchanan
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Editorial |
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Research |
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Research | | Open
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide
- Claudia Gonzaga-Jauregui
- , Gozde Yesil
- , Harikiran Nistala
- , Alper Gezdirici
- , Yavuz Bayram
- , Kalyan C. Nannuru
- , Davut Pehlivan
- , Bo Yuan
- , Johanna Jimenez
- , Yavuz Sahin
- , Ingrid S. Paine
- , Zeynep Coban Akdemir
- , Saathyaki Rajamani
- , Jeffrey Staples
- , John Dronzek
- , Kristen Howell
- , Jawid M. Fatih
- , Silvia Smaldone
- , Alan E. Schlesinger
- , Norman Ramírez
- , Alberto S. Cornier
- , Melissa A. Kelly
- , Robert Haber
- , Shek Man Chim
- , Kristy Nieman
- , Nan Wu
- , Johnathon Walls
- , William Poueymirou
- , Chia-Jen Siao
- , V. Reid Sutton
- , Marc S. Williams
- , Jennifer E. Posey
- , Richard A. Gibbs
- , Simon Carlo
- , David H. Tegay
- , Aris N. Economides
- & James R. Lupski
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Research | | Open
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology
- Jonathan D. Mosley
- , Rebecca T. Levinson
- , Eric Farber-Eger
- , Todd L. Edwards
- , Jacklyn N. Hellwege
- , Adriana M. Hung
- , Ayush Giri
- , Megan M. Shuey
- , Christian M. Shaffer
- , Mingjian Shi
- , Evan L. Brittain
- , Wendy K. Chung
- , Iftikhar J. Kullo
- , Adelaide M. Arruda-Olson
- , Gail P. Jarvik
- , Eric B. Larson
- , David R. Crosslin
- , Marc S. Williams
- , Ken M. Borthwick
- , Hakon Hakonarson
- , Joshua C. Denny
- , Thomas J. Wang
- , Charles M. Stein
- , Dan M. Roden
- & Quinn S. Wells
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Research |
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Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing
- Christopher M Haggerty
- , Cynthia A James
- , Hugh Calkins
- , Crystal Tichnell
- , Joseph B Leader
- , Dustin N Hartzel
- , Christopher D Nevius
- , Sarah A Pendergrass
- , Thomas N Person
- , Marci Schwartz
- , Marylyn D Ritchie
- , David J Carey
- , David H Ledbetter
- , Marc S Williams
- , Frederick E Dewey
- , Alexander Lopez
- , John Penn
- , John D Overton
- , Jeffrey G Reid
- , Matthew Lebo
- , Heather Mason-Suares
- , Christina Austin-Tse
- , Heidi L Rehm
- , Brian P Delisle
- , Daniel J Makowski
- , Vishal C Mehra
- , Michael F Murray
- & Brandon K Fornwalt
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| Open
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
- Adam H Buchanan
- , Kandamurugu Manickam
- , Michelle N Meyer
- , Jennifer K Wagner
- , Miranda L G Hallquist
- , Janet L Williams
- , Alanna Kulchak Rahm
- , Marc S Williams
- , Zong-Ming E Chen
- , Chaitali K Shah
- , Tullika K Garg
- , Amanda L Lazzeri
- , Marci L B Schwartz
- , D'Andra M Lindbuchler
- , Audrey L Fan
- , Rosemary Leeming
- , Pedro O Servano III
- , Ashlee L Smith
- , Victor G Vogel
- , Noura S Abul-Husn
- , Frederick E Dewey
- , Matthew S Lebo
- , Heather M Mason-Suares
- , Marylyn D Ritchie
- , F Daniel Davis
- , David J Carey
- , David T Feinberg
- , W Andrew Faucett
- , David H Ledbetter
- & Michael F Murray
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| Open
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
- Jessica Ezzell Hunter
- , Stephanie A. Irving
- , Leslie G. Biesecker
- , Adam Buchanan
- , Brian Jensen
- , Kristy Lee
- , Christa Lese Martin
- , Laura Milko
- , Kristin Muessig
- , Annie D. Niehaus
- , Julianne O’Daniel
- , Margaret A. Piper
- , Erin M. Ramos
- , Sheri D. Schully
- , Alan F. Scott
- , Anne Slavotinek
- , Nara Sobreira
- , Natasha Strande
- , Meredith Weaver
- , Elizabeth M. Webber
- , Marc S. Williams
- , Jonathan S. Berg
- , James P. Evans
- & Katrina A.B. Goddard
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| Open
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Evidence synthesis and guideline development in genomic medicine: current status and future prospects
- Sheri D. Schully
- , Tram Kim Lam
- , W. David Dotson
- , Christine Q. Chang
- , Naomi Aronson
- , Marian L. Birkeland
- , Stephanie Jo Brewster
- , Stefania Boccia
- , Adam H. Buchanan
- , Ned Calonge
- , Kathleen Calzone
- , Benjamin Djulbegovic
- , Katrina A.B. Goddard
- , Roger D. Klein
- , Teri E. Klein
- , Joseph Lau
- , Rochelle Long
- , Gary H. Lyman
- , Rebecca L. Morgan
- , Christina G.S. Palmer
- , Mary V. Relling
- , Wendy S. Rubinstein
- , Jesse J. Swen
- , Sharon F. Terry
- , Marc S. Williams
- & Muin J. Khoury
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Reviews |
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Research |
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Research |
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Research |
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Research |
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Reviews |
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Research | | Open
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR
- Maya S. Safarova
- , Benjamin A. Satterfield
- , Xiao Fan
- , Erin E. Austin
- , Zhan Ye
- , Lisa Bastarache
- , Neil Zheng
- , Marylyn D. Ritchie
- , Kenneth M. Borthwick
- , Marc S. Williams
- , Eric B. Larson
- , Aaron Scrol
- , Gail P. Jarvik
- , David R. Crosslin
- , Kathleen Leppig
- , Laura J. Rasmussen-Torvik
- , Sarah A. Pendergrass
- , Amy C. Sturm
- , Bahram Namjou
- , Amy Sanghavi Shah
- , Robert J. Carroll
- , Wendy K. Chung
- , Wei-Qi Wei
- , QiPing Feng
- , C. Michael Stein
- , Dan M. Roden
- , Teri A. Manolio
- , Daniel J. Schaid
- , Joshua C. Denny
- , Scott J. Hebbring
- , Mariza de Andrade
- & Iftikhar J. Kullo
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Research | | Open
A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers
- Jonathan D. Mosley
- , QiPing Feng
- , Quinn S. Wells
- , Sara L. Van Driest
- , Christian M. Shaffer
- , Todd L. Edwards
- , Lisa Bastarache
- , Wei-Qi Wei
- , Lea K. Davis
- , Catherine A. McCarty
- , Will Thompson
- , Christopher G. Chute
- , Gail P. Jarvik
- , Adam S. Gordon
- , Melody R. Palmer
- , David R. Crosslin
- , Eric B. Larson
- , David S. Carrell
- , Iftikhar J. Kullo
- , Jennifer A. Pacheco
- , Peggy L. Peissig
- , Murray H. Brilliant
- , James G. Linneman
- , Bahram Namjou
- , Marc S. Williams
- , Marylyn D. Ritchie
- , Kenneth M. Borthwick
- , Shefali S. Verma
- , Jason H. Karnes
- , Scott T. Weiss
- , Thomas J. Wang
- , C. Michael Stein
- , Josh C. Denny
- & Dan M. Roden
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Reviews |
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| Open
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 Kannry
- , Randi Zinberg
- , Melissa A. Basford
- , Murray Brilliant
- , David J. Carey
- , Rex L. Chisholm
- , Christopher G. Chute
- , John J. Connolly
- , David Crosslin
- , Joshua C. Denny
- , Carlos J. Gallego
- , Jonathan L. Haines
- , Hakon Hakonarson
- , John Harley
- , Gail P. Jarvik
- , Isaac Kohane
- , Iftikhar J. Kullo
- , Eric B. Larson
- , Catherine McCarty
- , Marylyn D. Ritchie
- , Dan M. Roden
- , Maureen E. Smith
- , Erwin P. Böttinger
- & Marc S. Williams
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Stakeholder engagement: a key component of integrating genomic information into electronic health records
- Andrea Hartzler
- , Catherine A. McCarty
- , Luke V. Rasmussen
- , Marc S. Williams
- , Murray Brilliant
- , Erica A. Bowton
- , Ellen Wright Clayton
- , William A. Faucett
- , Kadija Ferryman
- , Julie R. Field
- , Stephanie M. Fullerton
- , Carol R. Horowitz
- , Barbara A. Koenig
- , Jennifer B. McCormick
- , James D. Ralston
- , Saskia C. Sanderson
- , Maureen E. Smith
- & Susan Brown Trinidad
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Implementing genomic medicine in the clinic: the future is here
- Teri A. Manolio
- , Rex L. Chisholm
- , Brad Ozenberger
- , Dan M. Roden
- , Marc S. Williams
- , Richard Wilson
- , David Bick
- , Erwin P. Bottinger
- , Murray H. Brilliant
- , Charis Eng
- , Kelly A. Frazer
- , Bruce Korf
- , David H. Ledbetter
- , James R. Lupski
- , Clay Marsh
- , David Mrazek
- , Michael F. Murray
- , Peter H. O’Donnell
- , Daniel J. Rader
- , Mary V. Relling
- , Alan R. Shuldiner
- , David Valle
- , Richard Weinshilboum
- , Eric D. Green
- & Geoffrey S. Ginsburg
