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Best practices for the interpretation and reporting of clinical whole genome sequencing
23 auth.
C. Austin-Tse,
V. Jobanputra,
D. Perry,
D. Bick,
R. Taft,
E. Venner,
R. Gibbs,
Ted Young,
Sarah Barnett,
J. Belmont,
...
N. Boczek,
S. Chowdhury,
Katarzyna A Ellsworth,
S. Guha,
S. Kulkarni,
Cherisse A. Marcou,
Linyan Meng,
David R. Murdock,
A. Rehman,
Elizabeth Spiteri,
Amanda Thomas-Wilson,
H. Kearney,
H. Rehm
|
6 |
2022 |
6
🐜
|
|
🐜
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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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Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
27 auth.
N. Abul-Husn,
Priya N. Marathe,
Nicole R Kelly,
Katherine E Bonini,
Monisha Sebastin,
Jacqueline A Odgis,
A. Abhyankar,
Kaitlyn Brown,
Miranda Di Biase,
Katie M. Gallagher,
S. Guha,
Nicolette Ioele,
V. Okur,
Michelle A. Ramos,
Jessica E. Rodriguez,
...
A. Rehman,
Amanda Thomas-Wilson,
L. Edelmann,
R. Zinberg,
G. Diaz,
J. Greally,
V. Jobanputra,
Sabrina A. Suckiel,
C. Horowitz,
M. Wasserstein,
E. Kenny,
B. Gelb
|
3 |
2023 |
3
🐜
|
|
🐜
|
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
37 auth.
M. Ganapathi,
Leticia S. Matsuoka,
Michael E. March,
Dong Li,
Elly Brokamp,
S. Benito-Sanz,
S. White,
K. Lachlan,
Priyanka Ahimaz,
Anshuman Sewda,
L. Bastarache,
Amanda Thomas-Wilson,
J. Stoler,
Nuria C. Bramswig,
J. Baptista,
...
K. Stals,
F. Démurger,
B. Cogné,
B. Isidor,
M. Bedeschi,
A. Peron,
J. Amiel,
E. Zackai,
J. Schacht,
A. Iglesias,
J. Morton,
Ariane Schmetz,
Joy D. Cogan,
Verónica Seidel,
Stephanie Lucia,
Stephanie M Baskin,
I. Thiffault,
Joy D. Cogan,
C. T. Gordon,
Wendy K. Chung,
S. Bowdin,
E. Bhoj
|
3 |
2023 |
3
🐜
|
|
🐜
|
Embryonic lethal genetic variants and chromosomally normal pregnancy loss
10 auth.
J. Kline,
B. Vardarajan,
Avinash Avabhyankar,
Sonja Kytömaa,
B. Levin,
Nara Sobreira,
...
A. Tang,
Amanda Thomas-Wilson,
R. Zhang,
V. Jobanputra
|
3 |
2020 |
3
🐜
|
|
🐜
|
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
16 auth.
M. Ganapathi,
Amanda Thomas-Wilson,
Christie Buchovecky,
Avinash V Dharmadhikari,
Subit Barua,
Winston Lee,
M. Z. Ruan,
Megan Soucy,
Sara Ragi,
Joy Tanaka,
...
Lorraine Clark,
A. Naini,
Jun Liao,
M. Mansukhani,
S. Tsang,
V. Jobanputra
|
3 |
2022 |
3
🐜
|
|
🐜
|
Detection of mosaic variants using genome sequencing in a large pediatric cohort
26 auth.
Jacqueline A Odgis,
Katie M. Gallagher,
A. Rehman,
Priya N. Marathe,
Katherine E Bonini,
Monisha Sebastin,
Miranda Di Biase,
Kaitlyn Brown,
Nicole R Kelly,
Michelle A. Ramos,
Amanda Thomas-Wilson,
S. Guha,
V. Okur,
M. Ganapathi,
L. Elkhoury,
...
L. Edelmann,
R. Zinberg,
N. Abul-Husn,
G. Diaz,
J. Greally,
Sabrina A. Suckiel,
V. Jobanputra,
C. Horowitz,
E. Kenny,
M. Wasserstein,
B. Gelb
|
2 |
2022 |
2
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