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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
47 auth.
Lindsey D. Goodman,
H. Cope,
Zelha Nil,
Thomas A. Ravenscroft,
W. Charng,
Shenzhao Lu,
A. Tien,
R. Pfundt,
D. Koolen,
C. Haaxma,
H. Veenstra-Knol,
J. K. Wassink-Ruiter,
M. Wevers,
Melissa S Jones,
L. Walsh,
...
Victoria H Klee,
M. Theunis,
E. Legius,
D. Steel,
Katy E S Barwick,
M. Kurian,
S. Mohammad,
R. Dale,
P. Terhal,
E. van Binsbergen,
B. Kirmse,
Bethany Robinette,
B. Cogné,
B. Isidor,
T. Grebe,
Peggy Kulch,
B. Hainline,
Katherine Sapp,
E. Morava,
E. Klee,
Erica L. Macke,
Pamela Trapane,
C. Spencer,
Y. Si,
Amber Begtrup,
M. Moulton,
Debdeep Dutta,
O. Kanca,
M. Wangler,
Shinya Yamamoto,
H. Bellen,
Q. Tan
|
4 |
2021 |
4
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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
104 auth.
S. Stephenson,
Gregory Costain,
Laura E R Blok,
Michael Silk,
Thanh-Binh Nguyen,
Xiaomin Dong,
Dana E. Alhuzaimi,
J. Dowling,
S. Walker,
K. Amburgey,
R. Hayeems,
Lance H Rodan,
M. Schwartz,
J. Picker,
S. Lynch,
...
Aditi Gupta,
Kristen J. Rasmussen,
L. Schimmenti,
E. Klee,
Z. Niu,
Katherine E. Agre,
Ilana Chilton,
Wendy K. Chung,
Anya Revah-Politi,
P. Au,
C. Griffith,
Melissa Racobaldo,
A. Raas‐Rothschild,
B. Ben Zeev,
O. Barel,
S. Moutton,
F. Morice-Picard,
V. Carmignac,
Jenny Cornaton,
N. Marle,
O. Devinsky,
C. Stimach,
S. B. Wechsler,
B. Hainline,
Katherine Sapp,
M. Willems,
A. Bruel,
Kerith-Rae Dias,
Carey-Anne Evans,
T. Roscioli,
R. Sachdev,
S. E. Temple,
Ying Zhu,
Joshua Baker,
I. Scheffer,
Fiona Gardiner,
Amy L. Schneider,
Alison M. Muir,
H. Mefford,
Amy Crunk,
E. Heise,
F. Millan,
K. Monaghan,
Richard A. Person,
Lindsay E. Rhodes,
Sarah Richards,
I. Wentzensen,
B. Cogné,
B. Isidor,
M. Nizon,
M. Vincent,
T. Besnard,
A. Piton,
C. Marcelis,
Kohji Kato,
Norihisa Koyama,
T. Ogi,
E. Goh,
C. Richmond,
D. Amor,
Jessica O. Boyce,
Angela T. Morgan,
M. Hildebrand,
Antony Kaspi,
M. Bahlo,
Rún Friðriksdóttir,
Hildigunnur Katrínardóttir,
P. Sulem,
K. Stefánsson,
Hans T. Björnsson,
S. Mandelstam,
M. Morleo,
M. Mariani,
Marcello Scala,
A. Accogli,
A. Torella,
V. Capra,
M. Wallis,
S. Jansen,
Quinten Weisfisz,
H. D. de Haan,
S. Sadedin,
S. C. Lim,
S. White,
D. Ascher,
A. Schenck,
P. Lockhart,
J. Christodoulou,
T. Tan
|
4 |
2022 |
4
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Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia
56 auth.
Alison M. Muir,
J. Gardner,
R. V. van Jaarsveld,
I. D. de Lange,
J. van der Smagt,
Golder N Wilson,
Holly A. Dubbs,
Ethan M. Goldberg,
Lia Zitano,
Caleb P. Bupp,
José E. Martínez,
M. Srour,
A. Accogli,
Afnan Alhakeem,
M. Meltzer,
...
A. Gropman,
C. Brewer,
R. Caswell,
T. Montgomery,
C. McKenna,
S. McKee,
C. Powell,
P. Vasudevan,
A. Brady,
S. Joss,
C. Tysoe,
Grace J. Noh,
M. Tarnopolsky,
L. Brady,
M. Zafar,
S. S. Schrier Vergano,
Brianna K Murray,
Lindsey Sawyer,
B. Hainline,
Katherine Sapp,
D. Demarzo,
Darcy J. Huismann,
I. Wentzensen,
R. Schnur,
K. Monaghan,
J. Juusola,
Lindsay E. Rhodes,
W. Dobyns,
F. Lecoquierre,
A. Goldenberg,
T. Polster,
Susanne Axer-Schaefer,
K. Platzer,
Chiara Klöckner,
T. Hoffman,
D. MacArthur,
M. O’Leary,
G. VanNoy,
E. England,
V. Varghese,
H. Mefford
|
4 |
2021 |
4
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|
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An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3
13 auth.
Valerie Castelluccio,
Francesco Vetrini,
T. Lynnes,
Julie R. Jones,
L. Holloway,
Alyce Belonis,
Amy M. Breman,
B. Graham,
Katherine Sapp,
Theodore E. Wilson,
...
C. Schwartz,
V. Pratt,
D. Weaver
|
0 |
2019 |
0
🐜
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|
🦁
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Mythesis.com : the irony of technology : an object relational approach to understanding the interplay of identity construction and the emergence of the "true self" through the privilege of anonymity on the Internet
Katherine Sapp
|
0 |
2007 |
0
🦁
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|
🐢
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Successful liver transplantation in an adult patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
7 auth.
Evan Garcia,
B. Graham,
M. Lacerda,
C. Kubal,
R. Snook,
Sharon M Luu,
...
Katherine Sapp
|
0 |
2021 |
0
🐢
|
