|
🐜
|
Progressive Loss of Function in a Limb Enhancer during Snake Evolution
19 auth.
E. Kvon,
O. Kamneva,
U. S. Melo,
I. Barozzi,
M. Osterwalder,
B. Mannion,
Virginie Tissieres,
C. Pickle,
I. Plajzer-Frick,
Elizabeth Lee,
...
Momoe Kato,
Tyler H. Garvin,
J. Akiyama,
Veena Afzal,
J. López-Ríos,
E. Rubin,
D. Dickel,
L. Pennacchio,
A. Visel
|
8 |
2016 |
8
🐜
|
|
🐜
|
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
42 auth.
L. Caires-Júnior,
E. Goulart,
U. S. Melo,
B. Araujo,
L. Alvizi,
Alessandra Soares-Schanoski,
Danyllo F de Oliveira,
G. Kobayashi,
K. Griesi-Oliveira,
C. M. Musso,
M. S. Amaral,
L. F. Dasilva,
R. Astray,
Sandra Fernanda Suárez-Patiño,
D. C. Ventini,
...
S. Gomes da Silva,
G. Yamamoto,
Suzana Ezquina,
M. Naslavsky,
K. Telles-Silva,
Karina Weinmann,
V. van der Linden,
Hélio van der Linden,
J. R. D. de Oliveira,
N. Arrais,
A. Melo,
Thalita Figueiredo,
Silvana Santos,
J. Meira,
S. Passos,
R. P. de Almeida,
A. J. B. Bispo,
E. Cavalheiro,
J. Kalil,
E. Cunha-Neto,
H. Nakaya,
Robert Andreata-Santos,
Luís Carlos de Souza Ferreira,
S. Verjovski-Almeida,
P. Ho,
M. Passos-Bueno,
M. Zatz
|
6 |
2018 |
6
🐜
|
|
🦁
|
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
22 auth.
U. S. Melo,
R. Schöpflin,
R. Acuna-Hidalgo,
M. A. Mensah,
Björn Fischer-Zirnsak,
M. Holtgrewe,
Marius-Konstantin Klever,
S. Türkmen,
V. Heinrich,
Ilina D. Pluym,
...
E. Matoso,
Sérgio Bernardo de Sousa,
P. Louro,
W. Hülsemann,
M. Cohen,
A. Dufke,
A. Latos-Bieleńska,
M. Vingron,
V. Kalscheuer,
F. Quintero-Rivera,
M. Spielmann,
S. Mundlos
|
6 |
2020 |
6
🦁
|
|
🐜
|
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
37 auth.
Suzanne E. de Bruijn,
A. Fiorentino,
D. Ottaviani,
Stephanie Fanucchi,
U. S. Melo,
Julio C Corral-Serrano,
Timo Mulders,
M. Georgiou,
C. Rivolta,
Nikolas Pontikos,
G. Arno,
L. Roberts,
J. Greenberg,
Silvia Albert,
C. Gilissen,
...
Marco Aben,
G. Rebello,
S. Mead,
F. Raymond,
J. Corominas,
Claire E L Smith,
H. Kremer,
S. Downes,
G. Black,
A. Webster,
C. Inglehearn,
L. I. van den Born,
R. Koenekoop,
M. Michaelides,
R. Ramesar,
C. Hoyng,
S. Mundlos,
M. Mhlanga,
F. Cremers,
M. Cheetham,
S. Roosing,
A. Hardcastle
|
6 |
2020 |
6
🐜
|
|
🐜
|
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies
29 auth.
E. Palmer,
R. Sachdev,
R. Macintosh,
Grad Dip Genetic Counselling,
U. S. Melo,
S. Mundlos,
S. Righetti,
T. Kandula,
A. Minoche,
C. Puttick,
V. Gayevskiy,
L. Hesson,
S. Idrisoglu,
C. Shoubridge,
M. Thai,
...
R. Davis,
A. Drew,
H. Sampaio,
P. Andrews,
J. Lawson,
M. Cardamone,
D. Mowat,
A. Colley,
S. Kummerfeld,
M. Dinger,
M. Cowley,
T. Roscioli,
A. Bye,
E. Kirk
|
5 |
2021 |
5
🐜
|
|
🦁
|
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
20 auth.
U. S. Melo,
Lúcia I Macedo-Souza,
Thalita Figueiredo,
A. Muotri,
J. Gleeson,
G. Coux,
Pablo Armas,
N. Calcaterra,
J. Kitajima,
S. Amorim,
...
T. R. Olávio,
K. Griesi-Oliveira,
G. Coatti,
C. Rocha,
Marinalva Martins-Pinheiro,
C. Menck,
M. Zaki,
F. Kok,
M. Zatz,
Silvana Santos
|
5 |
2015 |
5
🦁
|
|
🐜
|
A novel complex neurological phenotype due to a homozygous mutation in FDX2
26 auth.
J. Gurgel-Giannetti,
David S. Lynch,
A. Paiva,
L. Lucato,
G. Yamamoto,
C. Thomsen,
Somsuvro Basu,
F. Freua,
A. Giannetti,
Bruno Della Ripa de Assis,
M. Ribeiro,
I. Barcelos,
Katiane Sayão Souza,
F. Monti,
U. S. Melo,
...
S. Amorim,
L. G. L. Silva,
Lúcia I Macedo-Souza,
A. Vianna-Morgante,
M. Hirano,
M. S. van der Knaap,
R. Lill,
M. Vainzof,
A. Oldfors,
H. Houlden,
F. Kok
|
5 |
2018 |
5
🐜
|
|
🐜
|
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
9 auth.
Thalita Figueiredo,
U. S. Melo,
A. Pessoa,
P. Nóbrega,
J. Kitajima,
Igor Correa,
...
M. Zatz,
F. Kok,
Silvana Santos
|
4 |
2014 |
4
🐜
|
|
🐜
|
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
8 auth.
M. Bocángel,
U. S. Melo,
L. U. Alves,
Eliete Pardono,
N. Lourenço,
Humberto Vicente Cezar Marcolino,
...
P. Otto,
R. Mingroni-Netto
|
4 |
2018 |
4
🐜
|
