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Delineating the GRIN1 phenotypic spectrum
58 auth.
J. Lemke,
Kirsten Geider,
K. Helbig,
H. Heyne,
Hannah Schütz,
J. Hentschel,
C. Courage,
C. Depienne,
C. Nava,
D. Heron,
R. Møller,
H. Hjalgrim,
Dennis Lal,
B. Neubauer,
P. Nürnberg,
...
H. Thiele,
G. Kurlemann,
G. Arnold,
V. Bhambhani,
D. Bartholdi,
C. R. Pedurupillay,
D. Misceo,
E. Frengen,
P. Strømme,
D. Dlugos,
Emily S. Doherty,
E. Bijlsma,
C. Ruivenkamp,
M. Hoffer,
A. Goldstein,
Deepa S Rajan,
V. Narayanan,
K. Ramsey,
N. Belnap,
I. Schrauwen,
R. Richholt,
B. Koeleman,
J. Sá,
C. Mendonca,
C. D. de Kovel,
S. Weckhuysen,
K. Hardies,
P. de Jonghe,
L. de Meirleir,
M. Milh,
C. Badens,
M. Lebrun,
T. Busa,
C. Francannet,
A. Piton,
E. Riesch,
S. Biskup,
H. Vogt,
T. Dorn,
I. Helbig,
J. Michaud,
B. Laube,
S. Syrbe
|
6 |
2016 |
6
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A Diffusion Tensor Imaging Study of the Cerebellar Pathways in Children With Autism Spectrum Disorder
7 auth.
L. Sivaswamy,
Ajay Kumar,
Deepa S Rajan,
M. Behen,
O. Muzik,
D. Chugani,
...
H. Chugani
|
6 |
2010 |
6
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Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
35 auth.
T. Sands,
F. Miceli,
G. Lesca,
A. Beck,
L. Sadleir,
Daniel K. Arrington,
B. Schönewolf-Greulich,
S. Moutton,
A. Lauritano,
Piera Nappi,
M. V. Soldovieri,
I. Scheffer,
H. Mefford,
N. Stong,
E. Heinzen,
...
D. Goldstein,
Ana Grijalvo Perez,
E. Kossoff,
A. Stocco,
J. Sullivan,
V. Shashi,
B. Gérard,
C. Francannet,
Anne-Marie Bisgaard,
Z. Tümer,
M. Willems,
F. Rivier,
A. Vitobello,
Kavita Thakkar,
Deepa S Rajan,
A. Barkovich,
S. Weckhuysen,
E. Cooper,
M. Taglialatela,
M. Cilio
|
6 |
2019 |
6
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Adults with Cerebral Palsy Require Ongoing Neurologic Care: A Systematic Review
10 auth.
Sarah E. Smith,
M. Gannotti,
E. Hurvitz,
F. Jensen,
L. Krach,
M. Kruer,
...
M. Msall,
G. Noritz,
Deepa S Rajan,
Bhooma R. Aravamuthan
|
5 |
2021 |
5
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🐜
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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
70 auth.
Sukhleen Kour,
Deepa S Rajan,
Tyler R Fortuna,
Eric N. Anderson,
C. Ward,
Youngha Lee,
Sangmoon Lee,
Y. Shin,
J. Chae,
Murim Choi,
K. Siquier,
Vincent Cantagrel,
J. Amiel,
E. Stolerman,
S. Barnett,
...
M. Cousin,
D. Castro,
Kimberly McDonald,
B. Kirmse,
A. Nemeth,
D. Rajasundaram,
A. Innes,
Danielle C. Lynch,
P. Frosk,
A. Collins,
M. Gibbons,
Michele Yang,
I. Desguerre,
N. Boddaert,
C. Gitiaux,
S. L. Rydning,
K. Selmer,
R. Urreizti,
A. García-Oguiza,
A. N. Osorio,
E. Verdura,
A. Pujol,
Hannah McCurry,
J. Landers,
S. Agnihotri,
E. Andriescu,
Shade B. Moody,
C. Phornphutkul,
M. Sacoto,
Amber Begtrup,
H. Houlden,
J. Kirschner,
D. Schorling,
S. Rudnik-Schöneborn,
T. Strom,
S. Leiz,
Kali Juliette,
R. Richardson,
Ying Yang,
Yuehua Zhang,
Minghui Wang,
Jia Wang,
Xiaodong Wang,
K. Platzer,
S. Donkervoort,
C. Bönnemann,
M. Wagner,
M. Issa,
H. Elbendary,
Valentina Stanley,
R. Maroofian,
J. Gleeson,
M. Zaki,
J. Senderek,
U. Pandey
|
5 |
2021 |
5
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Single-cell analysis of habituation in Stentor coeruleus
14 auth.
Deepa S Rajan,
Tatyana Makushok,
Asa Kalish,
Lilibeth Acuna,
Alex Bonville,
Kathya Correa Almanza,
Brenda Garibay,
E. Tang,
M. Voss,
Athena Lin,
...
Kyle A. Barlow,
Patrick Harrigan,
M. Slabodnick,
W. Marshall
|
4 |
2022 |
4
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Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
32 auth.
Deepa S Rajan,
Sukhleen Kour,
Tyler R Fortuna,
M. Cousin,
S. Barnett,
Z. Niu,
D. Babovic‐Vuksanovic,
E. Klee,
B. Kirmse,
M. Innes,
S. L. Rydning,
K. Selmer,
M. D. Vigeland,
A. Erichsen,
A. Nemeth,
...
F. Millan,
C. Devile,
K. Fawcett,
A. Legendre,
David Sims,
R. Schnekenberg,
L. Burglen,
S. Mercier,
S. Bakhtiari,
Rosario Francisco-Velilla,
Azman Embarc-Buh,
E. Martínez-Salas,
Kristen M Wigby,
J. Lenberg,
J. Friedman,
M. Kruer,
U. Pandey
|
3 |
2022 |
3
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Survival of a male patient harboring CASK Arg27Ter mutation to adolescence
K. Mukherjee,
Paras A. Patel,
Deepa S Rajan,
L. LaConte,
S. Srivastava
|
3 |
2020 |
3
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