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Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing
15 auth.
Elaine Chen,
F. Facio,
Kerry W Aradhya,
S. Rojahn,
K. Hatchell,
Sienna J. Aguilar,
Karen Ouyang,
Sulagna Saitta,
Andrea K Hanson-Kwan,
Nicole Nakousi Capurro,
...
Eriko Takamine,
S. Jamuar,
Dianalee McKnight,
B. Johnson,
S. Aradhya
|
6 |
2023 |
6
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One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
26 auth.
S. Lincoln,
T. Hambuch,
J. Zook,
S. Bristow,
K. Hatchell,
R. Truty,
M. Kennemer,
B. Shirts,
A. Fellowes,
S. Chowdhury,
E. Klee,
S. Mahamdallie,
M. Cleveland,
P. Vallone,
Yan Ding,
...
S. Seal,
W. DeSilva,
F. Tomson,
Catherine Huang,
R. Garlick,
N. Rahman,
M. Salit,
S. Kingsmore,
M. Ferber,
S. Aradhya,
R. Nussbaum
|
6 |
2020 |
6
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|
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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
125 auth.
D. McKnight,
A. Morales,
K. Hatchell,
S. Bristow,
J. Bonkowsky,
M. Perry,
A. Berg,
Felippe Borlot,
E. Esplin,
C. Moretz,
Katie Angione,
Loreto Ríos-Pohl,
R. Nussbaum,
S. Aradhya,
C. Haldeman-Englert,
...
R. J. Levy,
Venu G Parachuri,
G. Lay-Son,
D. J. D. de Montellano,
M. A. Ramírez-García,
Edmar O Benítez Alonso,
Julie Ziobro,
A. Chiriță-Emandi,
T. Félix,
Dianne Kulasa-Luke,
A. Mégarbané,
Shefali N Karkare,
Sarah L. Chagnon,
J. Humberson,
Melissa Assaf,
Sebastián Silva,
Katherine Zarroli,
O. Boyarchuk,
Gary R. Nelson,
Rachel Palmquist,
Katherine C Hammond,
Sean T. Hwang,
Susan B Boutlier,
M. Nolan,
Kaitlin Batley,
Devraj Chavda,
Carlos Reyes-Silva,
O. Miroshnikov,
Britton D. Zuccarelli,
L. Amlie-Wolf,
J. Wheless,
Syndi Seinfeld,
M. Kanhangad,
J. Freeman,
S. Monroy-Santoyo,
Natalia Rodriguez-Vazquez,
M. Ryan,
Michelle Machie,
Patricio Guerra,
M. Hassan,
M. Candee,
Caleb P Bupp,
Kristen L. Park,
Eric A Muller,
P. Lupo,
Robert C. Pedersen,
A. Arain,
Andrea Murphy,
K. Schatz,
Weiyi Mu,
Paige M. Kalika,
L. Plaza,
M. Kellogg,
E. G. Lora,
Robert P. Carson,
V. Svystilnyk,
Viviana Venegas,
Rebecca Luke,
Hui Jiang,
T. Stetsenko,
Milagros M. Duenas-Roque,
Joseph Trasmonte,
R. Burke,
A. Hurst,
Douglas M. Smith,
L. Massingham,
Laura Pisani,
Carrie E Costin,
Betsy Ostrander,
F. Filloux,
Amitha Ananth,
Ismail S. Mohamed,
Alla Nechai,
Jasmin M. Dao,
M. Fahey,
Ermal Aliu,
Stephen J Falchek,
C. Press,
Lauren Treat,
K. Eschbach,
Angela Starks,
Ryan M. Kammeyer,
J. Bear,
Mona Jacobson,
Veronika Chernuha,
Bailey Meibos,
Kristen Wong,
Matthew T. Sweney,
A. Espinoza,
C. V. Van Orman,
A. Weinstock,
Ashutosh Kumar,
Claudia Soler-Alfonso,
Danielle A Nolan,
M. Raza,
Miguel David Rojas Carrion,
G. Chari,
E. Marsh,
Y. Shiloh-Malawsky,
S. Parikh,
E. Gonzalez-Giraldo,
S. Fulton,
Y. Sogawa,
Kaitlyn Burns,
Myroslava Malets,
Johnny David Montiel Blanco,
C. Habela,
Carey A Wilson,
Guillermo G Guzmán,
M. Pavliuk
|
5 |
2022 |
5
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|
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
62 auth.
H. Rehm,
J. Alaimo,
S. Aradhya,
P. Bayrak-Toydemir,
H. Best,
R. Brandon,
J. Buchan,
Elizabeth Chao,
E. Chen,
J. Clifford,
A. Cohen,
L. Conlin,
Soma Das,
K. W. Davis,
D. Gaudio,
...
F. del Viso,
C. Divincenzo,
M. Eisenberg,
L. Guidugli,
M. Hammer,
S. Harrison,
K. Hatchell,
L. Dyer,
Lily Hoang,
J. Holt,
V. Jobanputra,
I. Karbassi,
H. Kearney,
M. Kelly,
Jacob M. Kelly,
M. L. Kluge,
Timothy Komala,
P. Kruszka,
L. Lau,
Matthew S. Lebo,
C. Marshall,
D. McKnight,
K. McWalter,
Y. Meng,
N. Nagan,
C. Neckelmann,
N. Neerman,
Z. Niu,
V. Paolillo,
Sarah A. Paolucci,
D. Perry,
T. Pesaran,
Kelly Radtke,
Kristen J. Rasmussen,
K. Retterer,
Carol J. Saunders,
Elizabeth Spiteri,
Christina C. Stanley,
Anna Szuto,
R. Taft,
I. Thiffault,
Brittany C Thomas,
Amanda Thomas-Wilson,
Erin Thorpe,
T. Tidwell,
Meghan C Towne,
H. Zouk
|
5 |
2023 |
5
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|
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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing
13 auth.
Lisa M. Dellefave‐Castillo,
Allison L. Cirino,
T. Callis,
E. Esplin,
John Garcia,
K. Hatchell,
Britt Johnson,
A. Morales,
Ellen S. Regalado,
S. Rojahn,
...
M. Vatta,
R. Nussbaum,
Elizabeth M. McNally
|
5 |
2022 |
5
🐜
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|
🐜
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Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits
8 auth.
Shivani Nazareth,
L. Hayward,
Emilie Simmons,
Moran Snir,
K. Hatchell,
S. Rojahn,
...
R. Slotnick,
R. Nussbaum
|
4 |
2021 |
4
🐜
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|
🐜
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Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations
60 auth.
Jaeyoung Hong,
K. Hatchell,
J. Bradfield,
A. Bjonnes,
A. Chesi,
Chao-Qiang Lai,
C. Langefeld,
Lingyi Lu,
Yingchang Lu,
P. Lutsey,
S. Musani,
M. Nalls,
C. Robinson-Cohen,
J. D. Roizen,
R. Saxena,
...
K. Tucker,
J. Ziegler,
D. Arking,
J. Bis,
E. Boerwinkle,
E. Bottinger,
D. Bowden,
V. Gilsanz,
D. Houston,
H. Kalkwarf,
A. Kelly,
J. Lappe,
Yongmei Liu,
E. Michos,
S. Oberfield,
Nicholette D. Palmer,
J. Rotter,
B. Sapkota,
J. Shepherd,
James G. Wilson,
S. Basu,
I. D. de Boer,
J. Divers,
B. Freedman,
S. Grant,
Hakon Hakanarson,
T. Harris,
B. Kestenbaum,
S. Kritchevsky,
R. Loos,
J. Norris,
Arnita F. Norwood,
J. Ordovás,
J. Pankow,
B. Psaty,
D. Sanghera,
L. Wagenknecht,
B. Zemel,
J. Meigs,
J. Dupuis,
J. Florez,
Thomas J. Wang,
Ching‐Ti Liu,
C. Engelman,
L. Billings
|
4 |
2018 |
4
🐜
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🐜
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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study
25 auth.
Eden V. Haverfield,
E. Esplin,
Sienna J. Aguilar,
K. Hatchell,
K. Ormond,
Andrea Hanson‐Kahn,
P. Atwal,
Sarah K. Macklin-Mantia,
S. Hines,
Caron W.-M. Sak,
S. Tucker,
S. Bleyl,
P. Hulick,
O. Gordon,
L. Velsher,
...
Jessica Y. J. Gu,
S. Weissman,
Teresa M. Kruisselbrink,
Christophe Abel,
M. Kettles,
A. Slavotinek,
Bryce A. Mendelsohn,
Robert C. Green,
S. Aradhya,
R. Nussbaum
|
4 |
2021 |
4
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