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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
34 auth.
S. Riazuddin,
M. Hussain,
A. Razzaq,
Z. Iqbal,
M. Shahzad,
D. L. Polla,
Y. Song,
E. van Beusekom,
A. A. Khan,
L. Tomas-Roca,
M. Rashid,
M. Zahoor,
W. Wissink-Lindhout,
M. Basra,
M. Ansar,
...
Z. Agha,
Kay van Heeswijk,
F. Rasheed,
M. van de Vorst,
J. Veltman,
C. Gilissen,
J. Akram,
T. Kleefstra,
M. Assir,
D. Grozeva,
K. Carss,
F. Raymond,
T. O’Connor,
S. Riazuddin,
S. Khan,
Z. Ahmed,
A. D. de Brouwer,
H. van Bokhoven,
S. Riazuddin
|
6 |
2016 |
6
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|
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De novo mutations in PLXND1 and REV3L cause Möbius syndrome
25 auth.
L. Tomas-Roca,
Anastasia Tsaalbi-Shtylik,
J. Jansen,
Manvendra K. Singh,
J. Epstein,
U. Altunoğlu,
H. Verzijl,
L. Soria,
E. van Beusekom,
T. Roscioli,
Z. Iqbal,
C. Gilissen,
A. Hoischen,
A. D. de Brouwer,
C. Erasmus,
...
D. Schubert,
H. Brunner,
A. Pérez Aytés,
F. Marín,
P. Aroca,
H. Kayserili,
A. Carta,
N. de Wind,
G. Padberg,
H. van Bokhoven
|
6 |
2015 |
6
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|
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Crypto-rhombomeres of the mouse medulla oblongata, defined by molecular and morphological features
L. Tomas-Roca,
Rubén Corral-San-Miguel,
P. Aroca,
L. Puelles,
F. Marín
|
5 |
2014 |
5
🦁
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Estimation of the number of synapses in the hippocampus and brain-wide by volume electron microscopy and genetic labeling
9 auth.
Andrea Santuy,
L. Tomas-Roca,
José-Rodrigo Rodríguez,
J. González-Soriano,
F. Zhu,
Zhen Qiu,
...
S. Grant,
J. DeFelipe,
Á. Merchán-Pérez
|
5 |
2020 |
5
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|
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Peripheral T-cell lymphoma: molecular profiling recognizes subclasses and identifies prognostic markers
26 auth.
Marta Rodríguez,
R. Alonso-Alonso,
L. Tomas-Roca,
S. M. Rodriguez Pinilla,
R. Manso,
L. Cereceda,
J. Borregón,
T. Villaescusa,
R. Córdoba,
M. Sánchez-Beato,
I. Fernández-Miranda,
I. Betancor,
C. Bárcena,
Juan F. García,
M. Mollejo,
...
M. García‐Cosío,
P. Martín-Acosta,
F. Climent,
M. Caballero,
L. de la Fuente,
P. Mínguez,
L. Kessler,
C. Scholz,
A. Gualberto,
R. Mondejar,
M. Piris
|
4 |
2021 |
4
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|
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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
31 auth.
I. Schrauwen,
H. Valgaeren,
L. Tomas-Roca,
M. Sommen,
U. Altunoğlu,
Mieke Wesdorp,
M. Beyens,
E. Fransen,
A. Nasir,
G. Vandeweyer,
Anne Schepers,
Malika Rahmoun,
E. Beusekom,
M. Huentelman,
E. Offeciers,
...
I. Dhooghe,
A. Huber,
P. Heyning,
D. Zanetti,
E. D. Leenheer,
C. Gilissen,
A. Hoischen,
C. Cremers,
B. Verbist,
A. Brouwer,
G. Padberg,
R. Pennings,
H. Kayserili,
H. Kremer,
G. Camp,
H. Bokhoven
|
4 |
2018 |
4
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|
|
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Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model
8 auth.
L. Tomas-Roca,
Zhen Qiu,
Erik Fransén,
R. Gokhale,
Edita Bulovaite,
David J. Price,
...
N. Komiyama,
S. Grant
|
3 |
2022 |
3
🦁
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|
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In silico identification of new candidate genes for hereditary congenital facial paresis
L. Tomas-Roca,
A. Pérez-Aytés,
L. Puelles,
F. Marín
|
3 |
2011 |
3
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