|
🐜
|
RefSeq: an update on mammalian reference sequences
29 auth.
K. Pruitt,
Garth R. Brown,
S. Hiatt,
F. Thibaud-Nissen,
Alex Astashyn,
O. Ermolaeva,
C. Farrell,
Jennifer Hart,
M. Landrum,
Kelly M. McGarvey,
Michael R. Murphy,
N. O'Leary,
S. Pujar,
B. Rajput,
S. Rangwala,
...
Lillian D. Riddick,
Andrei Shkeda,
Hanzhen Sun,
P. Tamez,
R. E. Tully,
Craig Wallin,
David Webb,
Janet Weber,
Wendy Wu,
Michael DiCuccio,
P. Kitts,
D. Maglott,
Terence D. Murphy,
J. Ostell
|
9 |
2013 |
9
🐜
|
|
🐜
|
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
106 auth.
F. Hamdan,
Candace T. Myers,
P. Cossette,
P. Lemay,
D. Spiegelman,
A. Laporte,
Christina Nassif,
Ousmane Diallo,
Jean Monlong,
Maxime Cadieux-Dion,
Sylvia Dobrzeniecka,
C. Meloche,
K. Retterer,
M. Cho,
J. Rosenfeld,
...
W. Bi,
C. Massicotte,
M. Miguet,
L. Brunga,
Brigid M. Regan,
Kelly Mo,
C. Tam,
Amy L. Schneider,
Georgie Hollingsworth,
D. FitzPatrick,
A. Donaldson,
N. Canham,
E. Blair,
B. Kerr,
A. Fry,
R. Thomas,
Joss Shelagh,
J. Hurst,
H. Brittain,
Moira Blyth,
R. Lebel,
E. Gerkes,
Laura Davis‐Keppen,
Q. Stein,
W. Chung,
S. J. Dorison,
P. Benke,
E. Fassi,
N. Corsten‐Janssen,
E. Kamsteeg,
F. T. Mau-Them,
A. Bruel,
A. Verloes,
K. Õunap,
M. Wojcik,
Dara V. F. Albert,
S. Venkateswaran,
Tyson L. Ware,
Dean L Jones,
Yu‐Chi Liu,
S. Mohammad,
P. Bizargity,
C. Bacino,
V. Leuzzi,
S. Martinelli,
B. Dallapiccola,
M. Tartaglia,
Lubov Blumkin,
K. Wierenga,
Gabriela Purcarin,
J. O’Byrne,
S. Stockler,
A. Lehman,
B. Keren,
Marie-Christine Nouguès,
C. Mignot,
S. Auvin,
C. Nava,
S. Hiatt,
M. Bebin,
Yunru Shao,
F. Scaglia,
S. Lalani,
R. Frye,
I. Jarjour,
S. Jacques,
Renée-Myriam Boucher,
Emilie M Riou,
M. Srour,
L. Carmant,
A. Lortie,
P. Major,
P. Diadori,
F. Dubeau,
G. D'anjou,
G. Bourque,
S. Berkovic,
L. Sadleir,
Philippe M. Campeau,
Z. Kibar,
R. Lafreniére,
S. Girard,
S. Mercimek-Mahmutoglu,
C. Boelman,
G. Rouleau,
I. Scheffer,
H. Mefford,
D. Andrade,
E. Rossignol,
B. Minassian,
J. Michaud
|
8 |
2017 |
8
🐜
|
|
🐜
|
Genomic diagnosis for children with intellectual disability and/or developmental delay
22 auth.
K. Bowling,
M. Thompson,
M. Amaral,
C. Finnila,
S. Hiatt,
Krysta L. Engel,
J. N. Cochran,
K. Brothers,
K. East,
D. Gray,
...
W. Kelley,
N. Lamb,
E. Lose,
C. Rich,
S. Simmons,
Jana Whittle,
Benjamin T. Weaver,
Amy S. Nesmith,
R. Myers,
G. Barsh,
E. Bebin,
G. Cooper
|
7 |
2016 |
7
🐜
|
|
🐜
|
Current status and new features of the Consensus Coding Sequence database
43 auth.
C. Farrell,
N. O'Leary,
R. Harte,
J. Loveland,
L. Wilming,
Craig Wallin,
M. Diekhans,
D. Barrell,
S. Searle,
Bronwen L. Aken,
S. Hiatt,
A. Frankish,
M. Suner,
B. Rajput,
C. Steward,
...
Garth R. Brown,
Ruth Bennett,
Michael R. Murphy,
Wendy Wu,
M. Kay,
Jennifer Hart,
J. Rajan,
Janet Weber,
Catherine Snow,
Lillian D. Riddick,
T. Hunt,
David Webb,
Mark Thomas,
P. Tamez,
S. Rangwala,
Kelly M. McGarvey,
S. Pujar,
Andrei Shkeda,
Jonathan M. Mudge,
J. Gonzalez,
J. Gilbert,
S. Trevanion,
R. Baertsch,
J. Harrow,
T. Hubbard,
J. Ostell,
D. Haussler,
K. Pruitt
|
7 |
2013 |
7
🐜
|
|
🐜
|
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
21 auth.
R. Møller,
S. Weckhuysen,
M. Chipaux,
Elise Marsan,
V. Taly,
E. Bebin,
S. Hiatt,
Jeremy W Prokop,
K. Bowling,
D. Mei,
...
V. Conti,
P. de la Grange,
S. Ferrand-Sorbets,
G. Dorfmüller,
V. Lambrecq,
Line H. G. Larsen,
E. Leguern,
R. Guerrini,
G. Rubboli,
Gregory M. Cooper,
S. Baulac
|
6 |
2016 |
6
🐜
|
|
🐜
|
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
33 auth.
F. Harms,
K. Girisha,
A. Hardigan,
F. Kortüm,
A. Shukla,
M. Alawi,
A. Dalal,
L. Brady,
M. Tarnopolsky,
L. Bird,
S. Ceulemans,
M. Bebin,
K. Bowling,
S. Hiatt,
E. Lose,
...
M. Primiano,
W. Chung,
J. Juusola,
Z. Akdemir,
M. Bainbridge,
W. Charng,
M. Drummond-Borg,
M. Eldomery,
A. El-Hattab,
M. Saleh,
S. Bézieau,
B. Cogné,
B. Isidor,
S. Küry,
J. Lupski,
R. Myers,
G. Cooper,
K. Kutsche
|
6 |
2017 |
6
🐜
|
|
🐜
|
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
33 auth.
Lot Snijders Blok,
Lot Snijders Blok,
S. Hiatt,
K. Bowling,
J. Prokop,
Krysta L. Engel,
J. N. Cochran,
E. Bebin,
E. Bijlsma,
C. Ruivenkamp,
P. Terhal,
Marleen E. H. Simon,
Rosemarie Smith,
J. Hurst,
H. Mclaughlin,
...
R. Person,
Amy E. Crunk,
M. Wangler,
Haley E. Streff,
J. Symonds,
S. Zuberi,
K. Elliott,
Victoria R. Sanders,
Abigail Masunga,
R. J. Hopkin,
R. J. Hopkin,
Holly A. Dubbs,
X. Ortiz-González,
R. Pfundt,
H. Brunner,
S. Fisher,
T. Kleefstra,
G. Cooper
|
5 |
2018 |
5
🐜
|
|
🦁
|
Bimolecular fluorescence complementation (BiFC) analysis of protein interactions in Caenorhabditis elegans.
S. Hiatt,
Y. Shyu,
H. M. Duren,
Chang-Deng Hu
|
5 |
2008 |
5
🦁
|
|
🐜
|
NBEA: Developmental disease gene with early generalized epilepsy phenotypes
51 auth.
Maureen S. Mulhern,
C. Stumpel,
N. Stong,
H. Brunner,
Louise E Bier,
N. Lippa,
J. Riviello,
R. Rouhl,
M. Kempers,
R. Pfundt,
Alexander P. A. Stegmann,
M. Kukolich,
A. Telegrafi,
A. Lehman,
E. Lopez-Rangel,
...
N. Houcinat,
M. Barth,
N. D. den Hollander,
M. Hoffer,
S. Weckhuysen,
Jolien Roovers,
T. Djémié,
D. Bârcă,
B. Ceulemans,
D. Craiu,
J. Lemke,
C. Korff,
H. Mefford,
C. T. Meyers,
Z. Siegler,
S. Hiatt,
Gregory M. Cooper,
E. Bebin,
L. Snijders Blok,
H. Veenstra-Knol,
E. Baugh,
E. Brilstra,
Catharina M. L. Volker-Touw,
E. van Binsbergen,
Anya Revah-Politi,
E. Pereira,
D. McBrian,
M. Pacault,
B. Isidor,
C. Le Caignec,
B. Gilbert-Dussardier,
F. Bilan,
E. Heinzen,
D. Goldstein,
S. Stevens,
T. Sands
|
5 |
2018 |
5
🐜
|
|
🦁
|
Systematic reanalysis of genomic data improves quality of variant interpretation
21 auth.
S. Hiatt,
M. D. Amaral,
K. Bowling,
C. Finnila,
M.L. Thompson,
D.E. Gray,
J. Lawlor,
J. N. Cochran,
E. Bebin,
K.B. Brothers,
...
K. East,
W. Kelley,
N.E. Lamb,
S.E. Levy,
E. Lose,
M.B. Neu,
C. Rich,
S. Simmons,
R. M. Myers,
G. Barsh,
G.M. Cooper
|
5 |
2018 |
5
🦁
|
|
🐜
|
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
47 auth.
D. Le Duc,
C. Giulivi,
S. Hiatt,
E. Napoli,
A. Panoutsopoulos,
Angelo Harlan De Crescenzo,
U. Kotzaeridou,
S. Syrbe,
E. Anagnostou,
Meron Azage,
R. Bend,
Amber Begtrup,
N. Brown,
Benjamin Büttner,
M. Cho,
...
G. Cooper,
J. Doering,
C. Dubourg,
D. Everman,
M. Hildebrand,
Francis Jeshira Reynoso Santos,
B. Kellam,
Jennifer Keller-Ramey,
J. Lemke,
Shuxi Liu,
D. Niyazov,
K. Payne,
R. Person,
C. Quélin,
R. Schnur,
Brooke T. Smith,
J. Strober,
S. Walker,
M. Wallis,
L. Walsh,
Sandra Yang,
R. Yuen,
A. Ziegler,
H. Sticht,
Michael C. Pride,
Lori A. Orosco,
V. Martínez‐Cerdeño,
J. Silverman,
J. Crawley,
S. Scherer,
K. Zarbalis,
R. Jamra
|
5 |
2019 |
5
🐜
|
