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🐜
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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
19 auth.
Yi‐Heng Hao,
Michael D. Fountain,
K. Fon Tacer,
F. Xia,
W. Bi,
Sung-Hae L. Kang,
Ankita Patel,
J. Rosenfeld,
C. Le Caignec,
B. Isidor,
...
I. Krantz,
Sarah E. Noon,
Jean P. Pfotenhauer,
T. Morgan,
R. Moran,
R. Pedersen,
M. Saenz,
C. Schaaf,
P. R. Potts
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7 |
2015 |
7
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
83 auth.
Frank J. Kaiser,
Morad Ansari,
D. Braunholz,
María Concepción Gil-Rodríguez,
C. Decroos,
Jonathan J. Wilde,
Christopher T. Fincher,
M. Kaur,
M. Bando,
David J. Amor,
P. Atwal,
M. Bahlo,
Christine M. Bowman,
Jacquelyn J. Bradley,
H. Brunner,
...
Dinah Clark,
Miguel del Campo,
N. Di Donato,
Peter Diakumis,
Holly A. Dubbs,
D. Dyment,
Juliane Eckhold,
Sarah Ernst,
Jose C. Ferreira,
Lauren J. Francey,
U. Gehlken,
E. Guillén-Navarro,
Y. Gyftodimou,
Bryan D. Hall,
R. Hennekam,
L. Hudgins,
Melanie A. Hullings,
Jennifer M. Hunter,
H. Yntema,
A. Innes,
A. Kline,
Z. Krūmiņa,
Hane Lee,
K. Leppig,
S. Lynch,
M. Mallozzi,
Linda Mannini,
S. McKee,
S. Mehta,
I. Micule,
S. Mohammed,
E. Moran,
G. Mortier,
J.-A.S. Moser,
Sarah E. Noon,
N. Nozaki,
L. Nunes,
J. Pappas,
L. Penney,
A. Pérez-Aytés,
Michael B. Petersen,
B. Puisac,
N. Revencu,
E. Roeder,
S. Saitta,
Angela E. Scheuerle,
Karen Schindeler,
Victoria M. Siu,
Zornitza Stark,
Samuel P. Strom,
Heidi A. Thiese,
I. Vater,
P. Willems,
K. Williamson,
L. Wilson,
H. Hakonarson,
F. Quintero-Rivera,
J. Wierzba,
A. Musio,
G. Gillessen‐Kaesbach,
F. Ramos,
Laird G. Jackson,
K. Shirahige,
J. Pié,
David W. Christianson,
I. Krantz,
David R Fitzpatrick,
M. Deardorff
|
7 |
2014 |
7
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|
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Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin
22 auth.
K. Izumi,
Ryuichiro Nakato,
Zhe Zhang,
Andrew C. Edmondson,
Sarah E. Noon,
M. Dulik,
R. Rajagopalan,
C. Venditti,
K. Gripp,
J. Samanich,
...
E. Zackai,
M. Deardorff,
Dinah Clark,
Julian L Allen,
D. Dorsett,
Z. Misulovin,
Makiko Komata,
M. Bando,
M. Kaur,
Y. Katou,
K. Shirahige,
I. Krantz
|
6 |
2015 |
6
🐜
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|
🐜
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Connexin 47 Mutations Increase Risk for Secondary Lymphedema Following Breast Cancer Treatment
14 auth.
D. Finegold,
C. Baty,
Kelly Z. Knickelbein,
S. Perschke,
Sarah E. Noon,
D. Campbell,
J. Karlsson,
Diana Huang,
M. Kimak,
E. Lawrence,
...
E. Feingold,
S. D. Meriney,
A. Brufsky,
R. Ferrell
|
6 |
2012 |
6
🐜
|
|
🐜
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Phenotypes and genotypes in individuals with SMC1A variants
48 auth.
S. Huisman,
P. Mulder,
E. Redeker,
I. Bader,
Anne-Marie Bisgaard,
A. Brooks,
A. Cereda,
Constanza Cinca,
Dinah Clark,
V. Cormier-Daire,
M. Deardorff,
K. Diderich,
M. Elting,
A. V. van Essen,
D. FitzPatrick,
...
C. Gervasini,
G. Gillessen‐Kaesbach,
K. Girisha,
Y. Hilhorst-Hofstee,
Saskia M. J. Hopman,
D. Horn,
M. Isrie,
S. Jansen,
C. Jespersgaard,
F. Kaiser,
M. Kaur,
T. Kleefstra,
I. Krantz,
Phillis Lakeman,
A. Landlust,
D. Lessel,
C. Michot,
J. Moss,
Sarah E. Noon,
C. Oliver,
I. Parenti,
J. Pié,
F. Ramos,
C. Rieubland,
S. Russo,
A. Selicorni,
Z. Tümer,
R. Vorstenbosch,
T. Wenger,
Ingrid D C van Balkom,
S. Piening,
J. Wierzba,
R. Hennekam
|
6 |
2017 |
6
🐜
|
|
🐜
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Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic
8 auth.
D. Mehta,
Sarah E. Noon,
E. Schwartz,
A. Wilkens,
E. Bedoukian,
Irene Scarano,
...
E. Crenshaw,
I. Krantz
|
5 |
2016 |
5
🐜
|
|
🐜
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Characterization of limb differences in children with Cornelia de Lange Syndrome
11 auth.
D. Mehta,
S. Vergano,
M. Deardorff,
Sarika Aggarwal,
A. Barot,
Drew M. Johnson,
...
Nathan F. Miller,
Sarah E. Noon,
M. Kaur,
L. Jackson,
I. Krantz
|
4 |
2016 |
4
🐜
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|
🐬
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NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity
M. Kaur,
D. Mehta,
Sarah E. Noon,
M. Deardorff,
Zhe Zhang,
I. Krantz
|
4 |
2016 |
4
🐬
|
|
🐬
|
NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.
K. Izumi,
Sarah E. Noon,
A. Wilkens,
I. Krantz
|
4 |
2014 |
4
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