|
🐜
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High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
7 auth.
F. Martínez,
A. Caro-Llopis,
M. Roselló,
S. Oltra,
S. Mayo,
S. Monfort,
...
C. Orellana
|
6 |
2016 |
6
🐜
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|
🐜
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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
56 auth.
Jason O'Rawe,
Jason O'Rawe,
Yiyang Wu,
Yiyang Wu,
Max J. Dörfel,
A. Rope,
P. Au,
J. Parboosingh,
S. Moon,
M. Kousi,
K. Kosma,
K. Kosma,
Christopher Smith,
M. Tzetis,
M. Tzetis,
...
J. Schuette,
R. B. Hufnagel,
R. B. Hufnagel,
C. Prada,
F. Martínez,
C. Orellana,
Jonathan Crain,
A. Caro-Llopis,
S. Oltra,
S. Monfort,
Laura T. Jiménez-Barrón,
Laura T. Jiménez-Barrón,
J. Swensen,
S. Ellingwood,
Rosemarie Smith,
Han Fang,
S. Ospina,
S. Stegmann,
N. S. Hollander,
D. Mittelman,
Gareth Highnam,
Reid J. Robison,
E. Yang,
L. Faivre,
A. Roubertie,
J. Rivière,
K. Monaghan,
Kai Wang,
E. Davis,
N. Katsanis,
V. Kalscheuer,
E. Wang,
K. Metcalfe,
T. Kleefstra,
A. Innes,
S. Kitsiou‐Tzeli,
M. Roselló,
C. Keegan,
G. Lyon,
G. Lyon,
G. Lyon
|
6 |
2015 |
6
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|
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
105 auth.
P. J. van der Sluijs,
S. Jansen,
S. Vergano,
Miho Adachi-Fukuda,
Y. Alanay,
A. Alkindy,
A. Baban,
A. Bayat,
S. Beck-Wödl,
K. Berry,
E. Bijlsma,
L. Bok,
A. F. Brouwer,
I. van der Burgt,
Philippe M. Campeau,
...
N. Canham,
K. Chrzanowska,
Yoyo W. Y. Chu,
Brain H. Y. Chung,
K. Dahan,
M. de Rademaeker,
A. Destrėe,
T. Dudding-Byth,
Rachel K. Earl,
N. Elcioglu,
E. Elias,
C. Fagerberg,
A. Gardham,
B. Gener,
E. Gerkes,
U. Grasshoff,
A. van Haeringen,
K. R. Heitink,
J. Herkert,
N. D. den Hollander,
D. Horn,
D. Hunt,
S. Kant,
Mitsuhiro Kato,
H. Kayserili,
R. Kersseboom,
E. Kılıç,
M. Krajewska-Walasek,
Kylin Lammers,
L. Laulund,
D. Lederer,
M. Lees,
V. López‐González,
S. Maas,
G. Mancini,
C. Marcelis,
F. Martínez,
I. Maystadt,
Marianne Mcguire,
S. McKee,
S. Mehta,
K. Metcalfe,
J. Milunsky,
S. Mizuno,
J. Moeschler,
C. Netzer,
C. Ockeloen,
B. Oehl‐Jaschkowitz,
N. Okamoto,
Sharon N. M. Olminkhof,
C. Orellana,
L. Pasquier,
C. Pottinger,
V. Riehmer,
S. Robertson,
Maian Roifman,
C. Rooryck,
F. Ropers,
M. Roselló,
C. Ruivenkamp,
M. Sagiroglu,
S. Sallevelt,
A. Sanchis Calvo,
P. Simsek-Kiper,
G. Soares,
Lucia Solaeche,
F. M. Sonmez,
M. Splitt,
D. Steenbeek,
A. Stegmann,
C. Stumpel,
S. Tanabe,
E. Uctepe,
G. Utine,
H. Veenstra-Knol,
S. Venkateswaran,
C. Vilain,
C. Vincent-Delorme,
A. V. Vulto-van Silfhout,
P. Wheeler,
Golder N Wilson,
L. Wilson,
B. Wollnik,
T. Kosho,
D. Wieczorek,
E. Eichler,
R. Pfundt,
B. D. de Vries,
J. Clayton-Smith,
G. Santen
|
6 |
2018 |
6
🐜
|
|
🐜
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Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.
28 auth.
G. Froyen,
Stefanie Belet,
F. Martínez,
C. Santos-Rebouças,
M. Declercq,
J. Verbeeck,
Lene Donckers,
S. Berland,
S. Mayo,
M. Roselló,
M. M. Pimentel,
N. Fintelman-Rodrigues,
R. Hovland,
S. Santos,
F. Raymond,
...
T. Bose,
M. Corbett,
L. Sheffield,
C. V. Ravenswaaij-Arts,
T. Dijkhuizen,
C. Coutton,
C. Coutton,
C. Coutton,
V. Satre,
V. Satre,
V. Satre,
V. Siu,
P. Marynen
|
6 |
2012 |
6
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|
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Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern
15 auth.
Nathalie Fieremans,
H. Esch,
M. Holvoet,
G. Goethem,
K. Devriendt,
M. Roselló,
S. Mayo,
F. Martínez,
S. Jhangiani,
D. Muzny,
...
R. Gibbs,
J. Lupski,
J. Vermeesch,
P. Marynen,
G. Froyen
|
6 |
2016 |
6
🐜
|
|
🐜
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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
33 auth.
S. Moortgat,
S. Berland,
I. Aukrust,
I. Maystadt,
L. Baker,
V. Benoit,
A. Caro-Llopis,
N. Cooper,
F. Debray,
L. Faivre,
T. Gardeitchik,
B. Haukanes,
G. Houge,
E. Kivuva,
F. Martínez,
...
S. Mehta,
M. Nassogne,
N. Powell-Hamilton,
R. Pfundt,
M. Roselló,
T. Prescott,
P. Vasudevan,
B. van Loon,
C. Verellen‐Dumoulin,
A. Verloes,
C. Lippe,
E. Wakeling,
A. Wilkie,
L. Wilson,
A. Yuen,
D. Study,
K. Low,
R. Newbury-Ecob
|
6 |
2017 |
6
🐜
|
|
🐜
|
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
27 auth.
Sureni V. Mullegama,
J. Rosenfeld,
C. Orellana,
B. Bon,
S. Halbach,
E. Repnikova,
Lauren Brick,
Chumei Li,
L. Dupuis,
M. Roselló,
S. Aradhya,
D. J. Stavropoulos,
Kandamurugu Manickam,
Elyse B Mitchell,
Jennelle C Hodge,
...
M. Talkowski,
J. Gusella,
Kory Keller,
J. Zonana,
S. Schwartz,
R. Pyatt,
D. Waggoner,
L. Shaffer,
A. Lin,
B. Vries,
R. Mendoza-Londono,
S. Elsea
|
5 |
2013 |
5
🐜
|
|
🐜
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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
52 auth.
P. Hemati,
Anya Revah-Politi,
H. Bassan,
S. Petrovski,
Colleen G. Bilancia,
K. Ramsey,
Nicole G. Griffin,
Louise E Bier,
M. Cho,
M. Roselló,
S. Lynch,
Sophie Colombo,
A. Weber,
M. Haug,
E. Heinzen,
...
T. Sands,
V. Narayanan,
M. Primiano,
V. Aggarwal,
F. Millan,
Shannon G Sattler-Holtrop,
A. Caro-Llopis,
N. Pillar,
Janice Baker,
R. Freedman,
H. Kroes,
Stephanie J. Sacharow,
N. Stong,
P. Lapunzina,
Michael C Schneider,
N. Mendelsohn,
A. Singleton,
Valerie Loik Ramey,
K. Wou,
A. Kuzminsky,
S. Monfort,
M. Weiss,
S. Doyle,
A. Iglesias,
F. Martínez,
F. McKenzie,
C. Orellana,
K. V. van Gassen,
María Palomares,
L. Bazak,
A. Lee,
A. Bircher,
L. Basel‐Vanagaite,
M. Hafström,
G. Houge,
D. Goldstein,
K. Anyane-Yeboa
|
5 |
2018 |
5
🐜
|
|
🐜
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Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes
9 auth.
S. Monfort,
M. Roselló,
C. Orellana,
S. Oltra,
D. Blesa,
Klaas Kok,
...
I. Ferrer,
J. Cigudosa,
Francisco Martínez
|
5 |
2008 |
5
🐜
|
