|
🐜
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
32 auth.
Sarah E. Brnich,
A. A. Abou Tayoun,
F. Couch,
Garry R. Cutting,
Marc S. Greenblatt,
Christopher D. Heinen,
Dona M. Kanavy,
Xi Luo,
Shannon M. McNulty,
Lea M. Starita,
S. Tavtigian,
M. W. Wright,
Steven M. Harrison,
Leslie G. Biesecker,
Jonathan S Berg,
...
A. A. Abou Tayoun,
Jonathan S Berg,
Leslie G. Biesecker,
S. Brenner,
Garry R. Cutting,
S. Ellard,
Marc S. Greenblatt,
Steven M. Harrison,
I. Karbassi,
R. Karchin,
J. Mester,
A. O’Donnell-Luria,
T. Pesaran,
S. Plon,
H. Rehm,
S. Tavtigian,
S. Topper
|
8 |
2019 |
8
🐜
|
|
🐜
|
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
32 auth.
Sarah E. Brnich,
A. A. Abou Tayoun,
F. Couch,
Garry R. Cutting,
Marc S. Greenblatt,
Christopher D. Heinen,
Dona M. Kanavy,
Xi Luo,
Shannon M. McNulty,
Lea M. Starita,
S. Tavtigian,
M. W. Wright,
Steven M. Harrison,
Leslie G. Biesecker,
Jonathan S Berg,
...
A. A. Abou Tayoun,
Jonathan S Berg,
Leslie G. Biesecker,
S. Brenner,
Garry R. Cutting,
S. Ellard,
Marc S. Greenblatt,
Steven M. Harrison,
I. Karbassi,
R. Karchin,
J. Mester,
A. O’Donnell-Luria,
T. Pesaran,
S. Plon,
H. Rehm,
S. Tavtigian,
S. Topper
|
8 |
2019 |
8
🐜
|
|
🐜
|
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation.
33 auth.
Erica F. Andersen,
Danielle R Azzariti,
Larry Babb,
Jonathan S. Berg,
Leslie G. Biesecker,
Zo Bly,
Adam H. Buchanan,
Marina T. DiStefano,
Li Gong,
S. Harrison,
Jessica Ezzell Hunter,
Brandi Kattman,
Teri E Klein,
M. Landrum,
Kandamurugu Manickam,
...
Alessandra Serrano Marroquin,
Christa L. Martin,
L. Milko,
Aleksandar Milosavljevic,
Joannella Morales,
T. Nelson,
Sharon E. Plon,
B. Powell,
Erin M. Ramos,
Heidi L. Rehm,
E. Riggs,
Deborah Ritter,
Neethu Shah,
C. Thaxton,
E. Thorland,
Meredith A. Weaver,
Phil Weller,
M. W. Wright
|
2 |
2024 |
2
🐜
|
|
🐜
|
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
12 auth.
Timothy Bergquist,
S. Stenton,
Emily Nadeau,
Alicia B. Byrne,
Marc S. Greenblatt,
Steven M. Harrison,
...
S. Tavtigian,
A. O’Donnell-Luria,
Leslie G. Biesecker,
P. Radivojac,
Stephen Brenner,
V. Pejaver
|
2 |
2024 |
2
🐜
|
|
🐜
|
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
12 auth.
S. Stenton,
V. Pejaver,
Timothy Bergquist,
Leslie G. Biesecker,
Alicia B. Byrne,
Emily Nadeau,
...
Marc S. Greenblatt,
Steven M. Harrison,
S. Tavtigian,
P. Radivojac,
Stephen Brenner,
A. O’Donnell-Luria
|
2 |
2024 |
2
🐜
|
|
🐜
|
Implementation of a dyadic nomenclature for monogenic diseases.
9 auth.
C. Thaxton,
Leslie G. Biesecker,
Marina DiStefano,
Melissa A. Haendel,
Ada Hamosh,
Emma Owens,
...
Sharon E. Plon,
Heidi L. Rehm,
Jonathan S. Berg
|
1 |
2024 |
1
🐜
|
|
🐜
|
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
26 auth.
Timothy Bergquist,
S. Stenton,
Emily A W Nadeau,
Alicia B. Byrne,
Marc S. Greenblatt,
Steven M. Harrison,
S. Tavtigian,
A. O’Donnell-Luria,
Leslie G. Biesecker,
P. Radivojac,
Stephen Brenner,
V. Pejaver,
A. A. Tayoun,
Jonathan S Berg,
Garry R. Cutting,
...
Sian Ellard,
Peter Kang,
Izabela Karbassi,
Rachel Karchin,
Jessica Mester,
A. O’Donnell-Luria,
T. Pesaran,
Sharon E. Plon,
H. L. Rehm,
Natasha T. Strande,
S. Topper
|
0 |
2025 |
0
🐜
|
|
🐜
|
Reviewers for the Journal, January-June 2016.
155 auth.
Salim S. Abdool Karim,
N. Afdhal,
C. Akdis,
Cem Akin,
Daniel Alford,
David B. Allison,
Harvey J. Alter,
Ashwin N. Ananthakrishnan,
E. Antman,
Joseph R. Antos,
David A. Asch,
J. Avorn,
Peter Bach,
M. Bachhuber,
Anthony L. Back,
...
Ashraf Z. Badros,
Dominique Baeten,
Sean M. Bagshaw,
Laurence C. Baker,
G. Bakris,
Jane C. Ballantyne,
Miriam J. Baron Barshak,
Murat Bas,
R. Bellomo,
Carla J. Berg,
Robert Berg,
P. Bergsagel,
Shalender Bhasin,
Barbara E. Bierer,
Leslie G. Biesecker,
Dennis M. Black,
Lucie Blais,
David Blumenthal,
J. Braver,
Rebecca Brendel,
Michael Bretthauer,
P. Brezina,
John T. Brooks,
Peter I. Buerhaus,
Harry R. Buller,
Kenneth D. Burman,
Andrew Bush,
J. B. Bussel,
Michael S. Calderwood,
H. Calkins,
M. Carrier,
Michael S. Cartwright,
L. P. Casalino,
Carlo Catassi,
Amitabh Chandra,
Daniel Ciccarone,
John G F Cleland,
Pierre Cochat,
Jeffrey I. Cohen,
Myron S. Cohen,
Anthony P. Coll,
Wilson Compton,
Rachel Cooper,
Michael P. Curry,
David M. Cutler,
Anthony V. D’Amico,
Johanna P. Daily,
M. Dalakas,
Josep Dalmau,
James A. de Lemos,
Marcelo F. Di Carli,
J. M. Donohue,
Pamela S. Douglas,
J. P. Drenth,
Benjamin G. Druss,
Christopher J.A. Duncan,
Christopher Dye,
Benjamin L. Ebert,
Marcos Espinal,
James C. Fang,
Michael E. Farkouh,
Victor A. Ferraris,
Timothy G. Ferris,
F. Fervenza,
G. Fonarow,
Thomas Forbes,
Ian Ford,
David O. Freedman,
Robert Freedman,
Jennifer A. Frontera,
Sebastian Funk,
K. Gelmon,
Edward Gerstenfeld,
Paul Ginsburg,
M. Gladwin,
Sherry A. Glied,
Howard S. Gold,
A. B. Goldfine,
Larry B. Goldstein,
P. Goodney,
J. Gotlib,
Y. Grad,
Christopher B. Granger,
Anthony R. Green,
John G. Gribben,
Stephan Grupp,
Gordon H. Guyatt,
Scott M. Hammer,
D. Hanto,
Lisa H. Harris,
Barton F. Haynes,
Jeffrey Healey,
Robert A. Hegele,
William R. Hiatt,
Rury R Holman,
M. Honein,
Thomas Hostetter,
Chi-yuan Hsu,
Liangge L. Hsu,
H. Huskamp,
Elaine M. Hylek,
M. A. Ikram,
S. Inzucchi,
Rafael Irizarry,
Theodore J. Iwashyna,
Danny O. Jacobs,
R. Jagsi,
Denise J. Jamieson,
Ashish K. Jha,
Sanjit S. Jolly,
Karen E. Joynt,
Jessica Kahn,
Jeffrey N. Katz,
Arthur Kellermann,
Margaret A. Kenna,
Anne M. Kenny,
S. Keshavjee,
A. Kesselheim,
A. Khorana,
Paul L. Kimmel,
Krzysztof Kiryluk,
Jeffrey D. Klausner,
R. Kleta,
Rob Knight,
Isaac S. Kohane,
K. Kotulska,
A. S. Krolewski,
Gilles Lambert,
Bruce E. Landon,
Phillip W. Lavori,
Richard Lee,
Thomas H. Lee,
Bruce Leff,
Jane A. Leopold,
Ross L. Levine,
M. Levis,
Douglas E. Levy,
Helen Levy,
T. Ley,
Geoffrey K. Lighthall
|
0 |
2016 |
0
🐜
|
|
🐜
|
Updating probability of pathogenicity for RYR1 and CACNA1S exon variants in individuals without malignant hyperthermia after exposure to triggering anesthetics.
10 auth.
David A. Roberts,
Lisa Bastarache,
Jing He,
Adam Lewis,
Ida T. Aka,
Matthew S. Shotwell,
...
Srijaya K. Reddy,
Kirk J. Hogan,
Leslie G. Biesecker,
Miklos D. Kertai
|
0 |
2024 |
0
🐜
|
