|
🐜
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
45 auth.
S. Jin,
Jason Homsy,
Samir Zaidi,
Q. Lu,
S. Morton,
S. DePalma,
Xue Zeng,
Hongjian Qi,
Weni Chang,
M. Sierant,
Wei-chien Hung,
S. Haider,
Junhui Zhang,
James R. Knight,
R. Bjornson,
...
C. Castaldi,
Irina R. Tikhonoa,
K. Bilguvar,
S. Mane,
Stephan J Sanders,
S. Mital,
M. Russell,
J. Gaynor,
J. Deanfield,
A. Giardini,
G. Porter,
D. Srivastava,
C. W. Lo,
Yufeng Shen,
W. Watkins,
M. Yandell,
H. Yost,
M. Tristani-Firouzi,
J. Newburger,
A. Roberts,
R. Kim,
Hongyu Zhao,
J. Kaltman,
E. Goldmuntz,
W. Chung,
J. Seidman,
B. Gelb,
C. Seidman,
R. Lifton,
M. Brueckner
|
9 |
2017 |
9
🐜
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|
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Integrated genomic characterization of IDH1-mutant glioma malignant progression
34 auth.
Hanwen Bai,
A. Harmanci,
E. Erson-Omay,
Jie Li,
Süleyman Coșkun,
M. Simon,
B. Krischek,
K. Özduman,
S. Omay,
Eric A. Sorensen,
Şevin Turcan,
Mehmet Bakırcığlu,
Geneive Carrión-Grant,
Phillip B. Murray,
Victoria E. Clark,
...
A. Ercan-Sencicek,
James R. Knight,
L. Sencar,
S. Altinok,
L. Kaulen,
Burcu Gülez,
M. Timmer,
J. Schramm,
K. Mishra-Gorur,
O. Henegariu,
J. Moliterno,
A. Louvi,
T. Chan,
S. Tannheimer,
M. Pamir,
A. Vortmeyer,
K. Bilguvar,
Katsuhito Yasuno,
Murat Günel
|
8 |
2015 |
8
🐜
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|
🐜
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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
77 auth.
S. Jin,
Sara A. Lewis,
S. Bakhtiari,
Xue Zeng,
M. Sierant,
S. Shetty,
Sandra M. Nordlie,
Auréliane Elie,
M. Corbett,
Bethany Y. Norton,
C. V. van Eyk,
S. Haider,
Brandon S. Guida,
H. Magee,
James Liu,
...
S. Pastore,
J. Vincent,
Janice E. Brunstrom-Hernandez,
Antigone Papavasileiou,
M. Fahey,
J. Berry,
K. Harper,
Chongchen Zhou,
Junhui Zhang,
Boyang Li,
Hongyu Zhao,
Jennifer Heim,
D. L. Webber,
M. Frank,
Lei Xia,
Yiran Xu,
Dengna Zhu,
Bohao Zhang,
A. Sheth,
James R. Knight,
C. Castaldi,
Irina R. Tikhonova,
F. López-Giráldez,
B. Keren,
S. Whalen,
J. Buratti,
D. Doummar,
M. Cho,
K. Retterer,
F. Millan,
Yangong Wang,
J. Waugh,
Lance H Rodan,
Julie S. Cohen,
A. Fatemi,
A. Lin,
J. Phillips,
T. Feyma,
S. MacLennan,
Spencer Vaughan,
Kylie E. Crompton,
S. Reid,
D. Reddihough,
Qing Shang,
Chao Gao,
I. Novak,
N. Badawi,
Yana A. Wilson,
S. Mcintyre,
S. Mane,
Xiaoyang Wang,
D. Amor,
Daniela C. Zarnescu,
Q. Lu,
Qinghe Xing,
Changlian Zhu,
K. Bilguvar,
S. Padilla-Lopez,
R. Lifton,
J. Gécz,
A. Maclennan,
M. Kruer
|
6 |
2020 |
6
🐜
|
|
🐜
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De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
48 auth.
C. Furey,
Jungmin Choi,
S. Jin,
Xue Zeng,
Andrew T. Timberlake,
C. Nelson-Williams,
M. Mansuri,
Q. Lu,
Daniel Duran,
Shreyas Panchagnula,
A. Allocco,
J. Karimy,
A. Khanna,
Jonathan R Gaillard,
T. DeSpenza,
...
Prince Antwi,
Erin Loring,
William E. Butler,
Edward R. Smith,
B. Warf,
J. Strahle,
D. Limbrick,
Phillip B. Storm,
Phillip B. Storm,
G. Heuer,
G. Heuer,
Eric M. Jackson,
B. Iskandar,
James M. Johnston,
Irina Tikhonova,
C. Castaldi,
F. López-Giráldez,
R. Bjornson,
James R. Knight,
K. Bilguvar,
S. Mane,
Seth L. Alper,
S. Haider,
B. Guclu,
Yaşar Bayri,
Yener Şahin,
M. Apuzzo,
Charles C. Duncan,
M. Diluna,
M. Gunel,
R. Lifton,
R. Lifton,
Kristopher T. Kahle
|
6 |
2018 |
6
🐜
|
|
🐜
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Correlations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas.
44 auth.
Mark W. Youngblood,
Daniel Duran,
Daniel Duran,
Julio D Montejo,
Julio D Montejo,
Chang Li,
S. Omay,
K. Özduman,
A. Sheth,
Amy Y. Zhao,
Evgeniya Tyrtova,
Danielle F. Miyagishima,
Elena I. Fomchenko,
Christopher S. Hong,
Victoria E. Clark,
...
M. Riche,
M. Peyre,
J. Boetto,
Sadaf Sohrabi,
Sarah Koljaka,
J. Baranoski,
James R. Knight,
Hongda Zhu,
M. Pamir,
T. Avşar,
Turker Kilic,
J. Schramm,
M. Timmer,
R. Goldbrunner,
Y. Gong,
Yaşar Bayri,
N. Amankulor,
R. Hamilton,
K. Bilguvar,
Irina R. Tikhonova,
P. Tomak,
A. Huttner,
Matthias Simon,
M. Simon,
B. Krischek,
M. Kalamarides,
E. Erson-Omay,
J. Moliterno,
M. Gunel
|
6 |
2020 |
6
🐜
|
|
🐜
|
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
61 auth.
S. Jin,
W. Dong,
Adam J. Kundishora,
Shreyas Panchagnula,
A. Moreno-De-Luca,
C. Furey,
A. Allocco,
R. Walker,
C. Nelson-Williams,
H. Smith,
Ashley Dunbar,
Sierra B Conine,
Q. Lu,
Xue Zeng,
M. Sierant,
...
James R. Knight,
W. Sullivan,
Phan Q. Duy,
T. DeSpenza,
Benjamin C. Reeves,
J. Karimy,
A. Marlier,
C. Castaldi,
Irina R. Tikhonova,
Boyang Li,
H. P. Peña,
J. Broach,
E. Kabachelor,
P. Ssenyonga,
C. Hehnly,
Liping Ge,
B. Keren,
Andrew T. Timberlake,
J. Goto,
F. Mangano,
J. Johnston,
W. Butler,
B. Warf,
E. Smith,
S. Schiff,
D. Limbrick,
G. Heuer,
E. Jackson,
B. Iskandar,
Shrikant Mane,
S. Haider,
B. Guclu,
Yaşar Bayri,
Yener Şahin,
C. Duncan,
M. Apuzzo,
M. Diluna,
E. Hoffman,
N. Šestan,
L. Ment,
S. Alper,
K. Bilguvar,
D. Geschwind,
Murat Günel,
R. Lifton,
K. Kahle
|
6 |
2020 |
6
🐜
|
|
🐜
|
Isolated polycystic liver disease genes define effectors of polycystin-1 function
19 auth.
Whitney Besse,
K. Dong,
Jungmin Choi,
S. Punia,
S. Fedeles,
Murim Choi,
A. Gallagher,
E. Huang,
A. Gulati,
James R. Knight,
...
S. Mane,
E. Tahvanainen,
P. Tahvanainen,
Simone Sanna-Cherchi,
R. Lifton,
T. Watnick,
Y. Pei,
V. Torres,
S. Somlo
|
6 |
2017 |
6
🐜
|
|
🐜
|
Genomic sites hypersensitive to ultraviolet radiation
8 auth.
S. Premi,
Lynn Han,
S. Mehta,
James R. Knight,
Dejian Zhao,
M. Palmatier,
...
K. Kornacker,
D. Brash
|
6 |
2019 |
6
🐜
|
|
🐜
|
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
19 auth.
Whitney Besse,
K. Dong,
Jungmin Choi,
S. Punia,
S. Fedeles,
Murim Choi,
A. Gallagher,
E. Huang,
A. Gulati,
James R. Knight,
...
S. Mane,
E. Tahvanainen,
P. Tahvanainen,
Simone Sanna-Cherchi,
R. Lifton,
T. Watnick,
Y. Pei,
V. Torres,
S. Somlo
|
6 |
2017 |
6
🐜
|
|
🐜
|
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
47 auth.
Daniel Duran,
Xue Zeng,
S. Jin,
Jungmin Choi,
C. Nelson-Williams,
B. Yatsula,
Jonathan R Gaillard,
C. Furey,
Q. Lu,
Andrew T. Timberlake,
W. Dong,
Michelle A. Sorscher,
E. Loring,
Jennifer Klein,
A. Allocco,
...
Ava Hunt,
Sierra B Conine,
J. Karimy,
Mark W. Youngblood,
Jinwei Zhang,
M. Diluna,
C. Matouk,
Shrikant Mane,
Irina R. Tikhonova,
C. Castaldi,
F. López-Giráldez,
James R. Knight,
S. Haider,
Mariya Soban,
S. Alper,
M. Komiyama,
A. Ducruet,
J. Zabramski,
A. Dardik,
B. Walcott,
C. Stapleton,
B. Aagaard-Kienitz,
G. Rodesch,
Eric Jackson,
E. Smith,
D. Orbach,
A. Berenstein,
K. Bilguvar,
M. Vikkula,
M. Gunel,
R. Lifton,
K. Kahle
|
5 |
2019 |
5
🐜
|
