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Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
41 auth.
S. Girirajan,
J. Rosenfeld,
Bradley P. Coe,
S. Parikh,
N. Friedman,
A. Goldstein,
R. Filipink,
Juliann S McConnell,
B. Angle,
W. Meschino,
M. Nezarati,
A. Asamoah,
K. Jackson,
G. Gowans,
Judith A. Martin,
...
E. Carmany,
D. Stockton,
R. Schnur,
L. Penney,
Donna M. Martin,
S. Raskin,
K. Leppig,
Heidi A. Thiese,
Rosemarie Smith,
E. Åberg,
D. Niyazov,
Luis Fernando González Escobar,
D. El-Khechen,
Kisha D Johnson,
R. Lebel,
Kiana Siefkas,
S. Ball,
Natasha E. Shur,
Marianne Mcguire,
C. Brasington,
J. Spence,
Laura S Martin,
C. Clericuzio,
B. Ballif,
L. Shaffer,
E. Eichler
|
9 |
2012 |
9
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|
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Mutations in prickle orthologs cause seizures in flies, mice, and humans.
36 auth.
Hirotaka Tao,
J. Manak,
L. Sowers,
X. Mei,
H. Kiyonari,
T. Abe,
N. Dahdaleh,
Tian Yang,
Shu-Biao Wu,
Shan Chen,
M. H. Fox,
C. Gurnett,
T. Montine,
T. Bird,
L. Shaffer,
...
J. Rosenfeld,
Juliann S McConnell,
Suneeta Madan‐Khetarpal,
E. Berry-Kravis,
Hilary L. Griesbach,
R. Saneto,
M. Scott,
D. Antić,
Jordan N. Reed,
Riley Boland,
Salleh N. Ehaideb,
H. El-Shanti,
V. Mahajan,
P. Ferguson,
J. Axelrod,
A. Lehesjoki,
Bernd Fritzsch,
D. Slusarski,
J. Wemmie,
N. Ueno,
A. Bassuk
|
7 |
2011 |
7
🐜
|
|
🐜
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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
43 auth.
A. Lamb,
J. Rosenfeld,
N. Neill,
M. Talkowski,
Ian Blumenthal,
S. Girirajan,
Debra J Keelean-Fuller,
Zheng Fan,
Jill Pouncey,
C. Stevens,
Loren Mackay-Loder,
D. Terespolsky,
P. Bader,
K. Rosenbaum,
Stephanie E. Vallee,
...
J. Moeschler,
R. Ladda,
S. Sell,
Judith A. Martin,
Shawnia Ryan,
Marilyn C. Jones,
R. Moran,
A. Shealy,
Suneeta Madan‐Khetarpal,
Juliann S McConnell,
U. Surti,
A. Delahaye,
B. Héron‐Longe,
E. Pipiras,
B. Benzacken,
S. Passemard,
A. Verloes,
B. Isidor,
C. Le Caignec,
Gwen M. Glew,
K. Opheim,
M. Descartes,
E. Eichler,
Cynthia C. Morton,
J. Gusella,
R. Schultz,
B. Ballif,
L. Shaffer
|
6 |
2012 |
6
🐜
|
|
🐜
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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
64 auth.
Ilse. J. Anderson,
Brad Angle,
Holly Ardinger,
Alexander Asamoah,
Joan F. Atkin,
Judith Axelrod,
Patricia Bader,
Carrie Blout,
Campbell Brasington,
Lauren C Briere,
Pamela L. Brock,
Barbara Burton,
David Chitayat,
Lisa J Cushman,
Dawn L. Earl,
...
Luis F Escobar,
A. Hamati,
David J Harris,
Gail Herman,
Jacqueline Hoover,
Kelly E Jackson,
K. Kaiser-Rogers,
Lawrence C Kaplan,
Abigail Klemsz,
R. Ladda,
Allen N. Lamb,
Molly M. Lund,
Helen Lyon,
Gregory P MacDonald,
Suneeta Madan‐Khetarpal,
Paul R Mark,
Laura S Martin,
Nicole Martin,
Juliann S McConnell,
Elizabeth McCracken,
Marie McDonald,
Marianne Mcguire,
R. Mendoza-Londono,
Amanda N Miller,
J. Moeschler,
Amanda G Noyes,
Kathryn Platky,
Cynthia M. Powell,
Abbey Putnam,
Victoria Roberts,
Warren G Sanger,
Roger A. Schultz,
S. Sell,
Y. Senturias,
V. Shashi,
Natasha Shur,
K. Siriwardena,
Annemarie Sommer,
J. E. Spence,
James Stavropoulos,
Cathy A. Stevens,
Meghan E. Strenk,
M. Tarnopolsky,
Ellen R A Thomas,
Matthew J Thomas,
B. Torchia,
Amy Venter,
David D. Weaver,
William G Wilson
|
6 |
2012 |
6
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|
|
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Left ventricular non‐compaction on MRI in a patient with 22q11.2 distal deletion
7 auth.
Shobhit Madan,
Suneeta Madan‐Khetarpal,
S. Park,
U. Surti,
A. Bailey,
Juliann S McConnell,
...
S. Tadros
|
4 |
2010 |
4
🐜
|
|
🐜
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Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene
10 auth.
Megan E. Beck,
Jess F. Peterson,
Juliann S McConnell,
Marianne Mcguire,
Miya R. Asato,
Joseph E. Losee,
...
U. Surti,
Suneeta Madan‐Khetarpal,
A. Rajkovic,
S. Yatsenko
|
4 |
2015 |
4
🐜
|
|
🐜
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Biomechanical Properties of the Skin in Cutis Laxa
11 auth.
B. Kozel,
Chi-Ting Su,
Joshua R. Danback,
R. Minster,
Suneeta Madan‐Khetarpal,
Juliann S McConnell,
...
Meghan K. Mac Neal,
Kara L. Levine,
R. C. Wilson,
F. Sciurba,
Z. Urban
|
3 |
2014 |
3
🐜
|
|
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Response to Drs. Stöllberger and Finsterer “Noncompaction Is Already Known in DiGeorge Anomaly From 22q11.2 Deletion Syndrome”
7 auth.
Shobhit Madan,
Suneeta Madan‐Khetarpal,
S. Park,
U. Surti,
A. Bailey,
Juliann S McConnell,
...
S. Tadros
|
0 |
2011 |
0
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|
