|
🐜
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Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration
25 auth.
W. Yoon,
Héctor Sandoval,
Sonal Nagarkar-Jaiswal,
Manish Jaiswal,
Shinya Yamamoto,
Nele A. Haelterman,
N. Putluri,
V. Putluri,
A. Sreekumar,
T. Tos,
A. Aksoy,
T. Donti,
B. Graham,
Mikiko Ohno,
E. Nishi,
...
J. Hunter,
D. Muzny,
Jason Carmichael,
Joseph J Shen,
Valerie A. Arboleda,
S. Nelson,
M. Wangler,
E. Karaca,
J. Lupski,
H. Bellen
|
6 |
2017 |
6
🐜
|
|
🐜
|
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
19 auth.
Linshan Shang,
Lindsay B. Henderson,
M. Cho,
Donald Petrey,
C. Fong,
K. Haude,
Natasha E. Shur,
J. Lundberg,
N. Hauser,
Jason Carmichael,
...
J. Innis,
J. Schuette,
Yvonne W Wu,
S. Asaikar,
M. Pearson,
Leandra Folk,
K. Retterer,
K. Monaghan,
W. Chung
|
6 |
2015 |
6
🐜
|
|
🐜
|
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features
14 auth.
Ganka Douglas,
M. Cho,
A. Telegrafi,
S. Winter,
Jason Carmichael,
E. Zackai,
M. Deardorff,
M. Harr,
Linford Williams,
A. Psychogios,
...
Angelika L Erwin,
T. Grebe,
K. Retterer,
J. Juusola
|
4 |
2018 |
4
🐜
|
|
🐜
|
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1
42 auth.
C. Lucas,
E. Sloan,
Rohit Gupta,
Jasper Wu,
D. Pratt,
H. Vasudevan,
A. Ravindranathan,
J. Barreto,
E. Williams,
Anny Shai,
Nicholas S Whipple,
C. Bruggers,
O. Maher,
B. Nabors,
Michael A. Rodriguez,
...
David Samuel,
Melandee D Brown,
Jason Carmichael,
R. Lu,
K. Mirchia,
Daniel V. Sullivan,
M. Pekmezci,
T. Tihan,
A. Bollen,
A. Perry,
A. Banerjee,
S. Mueller,
N. Gupta,
S. Hervey-Jumper,
N. Oberheim Bush,
M. Daras,
Jennie W. Taylor,
N. Butowski,
J. D. de Groot,
Jennifer L. Clarke,
D. Raleigh,
J. Costello,
J. Phillips,
A. Reddy,
Susan M. Chang,
M. Berger,
D. Solomon
|
4 |
2022 |
4
🐜
|
|
🐜
|
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
39 auth.
Clara Velmans,
A. O’Donnell-Luria,
E. Argilli,
F. Tran Mau-Them,
A. Vitobello,
Marcus C. Y. Chan,
J. Fung,
M. Rech,
A. Abicht,
Marion Aubert Mucca,
Jason Carmichael,
N. Chassaing,
Robin Clark,
C. Coubes,
A. Denommé-Pichon,
...
J. K. de Dios,
E. England,
B. Funalot,
M. Gérard,
M. Joseph,
Colleen Kennedy,
C. Kumps,
M. Willems,
I. M. van de Laar,
Coranne D Aarts-Tesselaar,
M. V. van Slegtenhorst,
D. Lehalle,
K. Leppig,
Lennart Lessmeier,
L. Pais,
Heather L Paterson,
Subhadra Ramanathan,
Lance H Rodan,
A. Superti-Furga,
B. Chung,
E. Sherr,
C. Netzer,
C. Schaaf,
F. Erger
|
3 |
2021 |
3
🐜
|
|
🐜
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Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report
8 auth.
I. Chandrasekar,
Anne Tourney,
K. Loo,
Jason Carmichael,
K. James,
Katarzyna A Ellsworth,
...
D. Dimmock,
M. Joseph
|
3 |
2021 |
3
🐜
|
|
🐬
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Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca—One Center’s Experience with Two Immigrant Farmworker Families in the Central Valley of California
Joseph J Shen,
Jason Carmichael,
Leoncio Vásquez Santos
|
3 |
2018 |
3
🐬
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