|
🦁
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Improving reporting standards for polygenic scores in risk prediction studies
34 auth.
H. Wand,
Samuel A. Lambert,
Cecelia P. Tamburro,
M. Iacocca,
J. O'Sullivan,
Catherine H. Sillari,
I. Kullo,
R. Rowley,
J. Dron,
J. Dron,
Deanna G. Brockman,
E. Venner,
M. McCarthy,
A. Antoniou,
D. Easton,
...
R. Hegele,
A. Khera,
N. Chatterjee,
C. Kooperberg,
Karen E. Edwards,
Katherine Vlessis,
Kimberly A. Kinnear,
J. Danesh,
Helen E. Parkinson,
E. Ramos,
Megan C. Roberts,
K. Ormond,
M. Khoury,
A. Janssens,
K. Goddard,
P. Kraft,
J. MacArthur,
M. Inouye,
G. Wojcik
|
8 |
2020 |
8
🦁
|
|
🐜
|
The Clinical Imperative for Inclusivity: Race, Ethnicity, and Ancestry (REA) in Genomics
16 auth.
A. Popejoy,
D. Ritter,
K. Crooks,
E. Currey,
S. Fullerton,
L. Hindorff,
B. Koenig,
E. Ramos,
E. Sorokin,
H. Wand,
...
M. W. Wright,
J. Zou,
Christopher R. Gignoux,
V. Bonham,
S. Plon,
C. Bustamante
|
6 |
2018 |
6
🐜
|
|
🐜
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ClinVar database of global familial hypercholesterolemia‐associated DNA variants
23 auth.
M. Iacocca,
J. Chora,
A. Carrié,
T. Freiberger,
S. Leigh,
J. Defesche,
C. L. Kurtz,
Marina T. DiStefano,
Raul D. Santos,
S. Humphries,
...
P. Mata,
C. E. Jannes,
A. Hooper,
K. Wilemon,
P. Benlian,
R. O'Connor,
John Garcia,
H. Wand,
L. Tichý,
E. Sijbrands,
R. Hegele,
M. Bourbon,
J. Knowles
|
6 |
2018 |
6
🐜
|
|
🐜
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Finding missed cases of familial hypercholesterolemia in health systems using machine learning
18 auth.
J. Banda,
Ashish Sarraju,
F. Abbasi,
J. Parizo,
M. Pariani,
Hannah E Ison,
E. Briskin,
H. Wand,
Sébastien Dubois,
Kenneth Jung,
...
Seth A. Myers,
D. Rader,
J. Leader,
M. Murray,
K. Myers,
K. Wilemon,
N. Shah,
J. Knowles
|
6 |
2019 |
6
🐜
|
|
🐜
|
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
28 auth.
J. Chora,
M. Iacocca,
Lukas Tichy,
H. Wand,
C. L. Kurtz,
Heather Zimmermann,
Annette Leon,
Maggie Williams,
Steve E Humphries,
Amanda J Hooper,
M. Trinder,
L. Brunham,
Alexandre Costa Pereira,
C. Jannes,
Margaret Chen,
...
Jessica Chonis,
Jian Wang,
Serra Kim,
Tami Johnston,
P. Souček,
M. Kramárek,
Sarah E Leigh,
Alain Carrié,
E. J. Sijbrands,
R. Hegele,
Tomáš Freiberger,
Joshua W. Knowles,
M. Bourbon
|
6 |
2021 |
6
🐜
|
|
🐜
|
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures
17 auth.
A. Popejoy,
K. Crooks,
S. Fullerton,
L. Hindorff,
G. Hooker,
B. Koenig,
N. Pino,
E. Ramos,
D. Ritter,
H. Wand,
...
M. W. Wright,
M. Yudell,
J. Zou,
S. Plon,
C. Bustamante,
K. Ormond,
Clinical Genome Resource Ancestry and Diversity Working Group
|
6 |
2020 |
6
🐜
|
|
🐜
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Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries.
21 auth.
M. Weale,
F. Riveros-Mckay,
Saskia Selzam,
Priyanka Seth,
Rachel Moore,
William A. Tarran,
Eva Gradovich,
C. Giner-Delgado,
D. Palmer,
Daniel Wells,
...
Ayden Saffari,
R. M. Sivley,
Alexander S. Lachapelle,
H. Wand,
S. Clarke,
J. Knowles,
J. O’Sullivan,
E. Ashley,
G. McVean,
V. Plagnol,
P. Donnelly
|
5 |
2021 |
5
🐜
|
|
🐜
|
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
36 auth.
C. Preston,
M. W. Wright,
Rao Madhavrao,
S. Harrison,
J. Goldstein,
Xi Luo,
H. Wand,
Bryan Wulf,
Gloria Cheung,
Mark E. Mandell,
Howard Tong,
Shaung Cheng,
M. Iacocca,
A. L. Pineda,
A. Popejoy,
...
K. Dalton,
Jimmy Zhen,
S. Dwight,
L. Babb,
Marina T. DiStefano,
Julianne M. O’Daniel,
Kristy Lee,
E. Riggs,
Diane B. Zastrow,
J. Mester,
D. Ritter,
Ronak Y Patel,
S. L. Subramanian,
Aleksander Milosavljevic,
J. Berg,
H. Rehm,
S. Plon,
J. Cherry,
C. Bustamante,
Helio A. Costa,
on behalf of the Clinical Genome Resource
|
5 |
2021 |
5
🐜
|
|
🐜
|
Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents
12 auth.
Holly Landrum Peay,
R. Fischer,
Janice P. Tzeng,
Sharon E. Hesterlee,
Carl A. Morris,
Amy Strong Martin,
...
Colin Rensch,
E. Smith,
V. Ricotti,
K. Beaverson,
H. Wand,
C. Mansfield
|
5 |
2019 |
5
🐜
|
