|
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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
20 auth.
B. Menten,
N. Maas,
B. Thienpont,
K. Buysse,
J. Vandesompele,
C. Melotte,
T. Ravel,
S. V. Vooren,
I. Balikova,
L. Backx,
...
Sophie Janssens,
A. D. Paepe,
B. D. Moor,
Y. Moreau,
P. Marynen,
J. Fryns,
G. Mortier,
K. Devriendt,
F. Speleman,
J. Vermeesch
|
8 |
2006 |
8
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|
|
🐜
|
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
27 auth.
A. Cideciyan,
S. Jacobson,
A. Drack,
A. Ho,
Jason Charng,
Alexandra V. Garafalo,
A. J. Roman,
A. Sumaroka,
Ian C. Han,
Maria D. Hochstedler,
W. Pfeifer,
E. Sohn,
Magali Taiel,
Michael R. Schwartz,
Patricia Biasutto,
...
W. Wit,
M. Cheetham,
P. Adamson,
D. Rodman,
G. Platenburg,
Maria D. Tome,
I. Balikova,
F. Nerinckx,
J. Zaeytijd,
C. van Cauwenbergh,
B. Leroy,
S. Russell
|
7 |
2018 |
7
🐜
|
|
🐜
|
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
30 auth.
M. Bauwens,
A. Garanto,
R. Sangermano,
Sarah Naessens,
N. Weisschuh,
J. de Zaeytijd,
Mubeen Khan,
F. Sadler,
I. Balikova,
C. van Cauwenbergh,
Toon Rosseel,
Jim Bauwens,
K. De Leeneer,
S. De Jaegere,
Thalia Van Laethem,
...
Meindert De Vries,
K. Carss,
G. Arno,
A. Fakin,
A. Webster,
Thomy J. L. de Ravel de l’Argentière,
Y. Sznajer,
M. Vuylsteke,
S. Kohl,
B. Wissinger,
Timothy J. Cherry,
R. Collin,
F. Cremers,
B. Leroy,
E. de Baere
|
7 |
2019 |
7
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|
|
🐜
|
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
318 auth.
E. Mercuri,
N. Deconinck,
E. Mazzone,
A. Nascimento,
M. Oskoui,
Kayoko Saito,
C. Vuillerot,
G. Baranello,
O. Boespflug-Tanguy,
N. Goemans,
J. Kirschner,
A. Kostera-Pruszczyk,
L. Servais,
M. Gerber,
K. Gorni,
...
O. Khwaja,
H. Kletzl,
R. Scalco,
H. Staunton,
W. Yeung,
Carmen Martín,
P. Fontoura,
J. Day,
J. Volpe,
J. Posner,
U. Kellner,
R. Quinlivan,
S. Fuerst-Recktenwald,
A. Marquet,
Nicoletta Mülhardt,
D. Trundell,
A. Daron,
S. Delstanche,
Bruninx Romain,
F. Farra,
O. Schneider,
I. Balikova,
P. Delbeke,
I. Joniau,
V. Tahon,
S. Wittevrongel,
E. Vos,
I. Casteels,
L. Waele,
C. Cassiman,
L. Prové,
D. Kinoo,
Lisa Vancampenhout,
M. V. Hauwe,
A. V. Impe,
A. P. D. Q. Araújo,
Aline Chacon Pereira,
Flávia Nardes,
L. Haefeli,
J. Rossetto,
J. A. Pereira,
M. F. Rebel,
Craig Campbell,
S. Sharan,
W. McDonald,
C. Scholtes,
Jeannie Mah,
M. Sframeli,
A. Chiu,
J. Hagel,
R. Beneish,
Connie Pham,
D. Toffoli,
S. Arpin,
Sarah Turgeon Desilets,
Yi Wang,
Chaoping Hu,
Jianfeng Huang,
Cheng Qian,
Li Shen,
Ying Xiao,
Z. Zhou,
Hui Li,
Sujuan Wang,
Hui Xiong,
Xingzhi Chang,
Huihui Dong,
Ying Liu,
Tian Sang,
Cui-jie Wei,
Jing Wen,
Yiwen Cao,
X. Lv,
Jingjing Zhao,
Wenzhu Li,
Lun Qin,
N. Barišić,
Martina Galiot Delic,
P. K. Ivkić,
N. Vukojević,
Ivana Kern,
B. Najdanovic,
Marin Skugor,
T. Gidaro,
A. Seferian,
S. D. Lucia,
E. Barreau,
Nabila Mnafek,
M. Momtchilova,
H. Pêche,
Carole Valherie,
Allison Grange,
C. Lilien,
Darko Milaščević,
Shotaro Tachibana,
C. Ravelli,
R. Cardaş,
Laure Vanden Brande,
Jean-Baptiste Davion,
S. Coopman,
I. Bouacha,
P. Debruyne,
S. Defoort,
Gilles Derlyn,
Florian Leroy,
Loïc Danjoux,
Julie Guilbaud,
I. Desguerre,
C. Barnerias,
M. Semeraro,
D. Bremond-Gignac,
Lénaïc Bruere,
Maxence Rateaux,
E. Deladrière,
Virginie Germa,
Y. Péréon,
A. Magot,
Sandra Mercie,
F. Billaud,
L. L. Goff,
G. Letellier,
Aurélie Portefaix,
S. Fontaine,
C. De-Montferrand,
Laure Le-Goff,
Manel Saidi,
N. Bouzid,
A. Barrière,
M. Tinat,
Michelle Dreesbach,
W. Lagrèze,
Bettina Michaelis,
Fanni E Molnár,
D. Seger,
Sibylle Vogt,
E. Bertini,
A. D’Amico,
S. Petroni,
Annamaria Bonetti,
A. Carlesi,
Irene Mizzoni,
Claudio Bruno,
E. Priolo,
G. Rao,
S. Morando,
P. Tacchetti,
Ambra Zuffi,
G. Comi,
R. Brusa,
S. Corti,
Velardo Daniele,
A. Govoni,
F. Magri,
Valeria Minorini,
S. Osnaghi,
F. Abbati,
F. Fassini,
M. Foà,
Amaqlia Lopopolo,
M. Meneri,
Francesca Zoppas,
V. Parente,
R. Masson,
S. B. Marzoli,
D. Santarsiero,
M. Sierra,
G. Tremolada,
M. Arnoldi,
Marta Viganò,
R. Zanin,
G. Amorelli,
Costanza Barresi,
Gugliemo D'Amico,
L. Orazi,
G. Coratti,
K. Haginoya,
Atsuko Kato,
Y. Morishita,
R. Kira,
K. Akiyama,
M. Goto,
Yuji Mori,
M. Okamoto,
Sakiko Tsutsui,
Yuta Takatsuji,
Aya Tanaka,
Hirofumi Komaki,
Ippei Suzuki,
Mizuki Takeuchi,
Daisuke Todoroki,
S. Watanabe,
Miina Omori,
T. Matsubayashi,
Emi Inakazu,
Hiroe Nagura,
Akira Suzuki,
Hitoshi Osaka,
Manami Ohashi,
N. Ishikawa,
Yousuke Harada,
Kenichi Fudeyasu,
K. Hirata,
Kana Michiue,
K. Ueda,
S. Yashiro,
Maiko Seki,
N. Sano,
A. Uemura,
Koji Fukuyama,
Yuki Matsumoto,
Hirofumi Miyazaki,
Minoru Shibata,
Kyoko Kobayashi,
Yukie Nakamura,
Yasuhiro Takeshima,
M. Kuma,
A. Frączek,
M. Jędrzejowska,
A. Lusakowska,
Agnieszka Czeszyk-Piotrowicz,
W. Hautz,
Klaudia Rakusiewicz,
Małgorzata Burlewicz,
Zuzanna Gierlak-Wójcicka,
Malwina Kępa,
Adam Sikorski,
M. Sobieraj,
M. Mazurkiewicz-Bełdzińska,
Anna Lemska,
S. Modrzejewska,
M. Koberda,
U. Stodolska-Koberda,
Agnieszka Waskowska,
Jagoda Kolendo,
Agnieszka Sobierajska-Rek,
B. Steinborn,
M. Dalz,
Julia Grabowska,
Wojciech Hajduk,
Justyna Janasiewicz-Karachitos,
Monika Klimas,
M. Stopa,
E. Gajewska,
Beata Pusz,
Dmitry Vlodavets,
Evgenia Melnik,
Natalya Leppenen,
Nataliya Yupatova,
A. Monakhova,
Yulia Papina,
Olga Shidlovsckaia,
V. Rašić,
V. Brankovic,
A. Kosać,
O. Djokić,
Vesna Jaksic,
A. Pepic,
Jelena Martinovic,
F. M. Casadesus,
E. Tizzano,
N. M. Begué,
C. W. Dod,
O. Subirà,
B. P. Pascual,
E. T. Tamargo,
M. Garrido,
J. Romero,
M. Salinas,
A. N. Osorio,
Ana Díaz Cortés,
Enrique Jiménez Gañán,
Simone Dowon Suh,
J. M. Cantillo,
O. Moya,
N. Padrós,
S. Urraca,
H. Valdivia,
S. Pascual,
Sofia Manuel,
Susana Noval Martin,
Paul Burnham,
S. E. Garcia,
Mercedes Martínez Moreno,
H. Topaloğlu,
I. Oncel,
Nesibe Eroglu Ertugrul,
B. Konuşkan,
B. Eldem,
S. Kadayıfçılar,
I. Alemdaroğlu,
A. Karaduman,
O. Yilmaz,
Neslihan Bilgin,
S. Sarı,
C. Chiriboga,
Steven Kane,
John Lee,
D. Rome-Martin,
J. Day,
Shannon Beres,
T. Duong,
R. Gee,
S. Young
|
6 |
2022 |
6
🐜
|
|
🦁
|
Subtelomeric imbalances in phenotypically normal individuals
15 auth.
I. Balikova,
B. Menten,
T. de Ravel,
C. Le Caignec,
B. Thienpont,
Montse Urbina,
M. Doco‐Fenzy,
M. de Rademaeker,
G. Mortier,
F. Kooy,
...
J. van den Ende,
K. Devriendt,
J. Fryns,
F. Speleman,
J. Vermeesch
|
6 |
2007 |
6
🦁
|
|
🦁
|
Subtelomeric imbalances in phenotypically normal individuals
15 auth.
I. Balikova,
B. Menten,
T. de Ravel,
C. Le Caignec,
B. Thienpont,
Montse Urbina,
M. Doco‐Fenzy,
M. de Rademaeker,
G. Mortier,
F. Kooy,
...
J. van den Ende,
K. Devriendt,
J. Fryns,
F. Speleman,
J. Vermeesch
|
6 |
2007 |
6
🦁
|
|
🐬
|
The causality of de novo copy number variants is overestimated
J. Vermeesch,
I. Balikova,
C. Schrander‐Stumpel,
J. Fryns,
K. Devriendt
|
5 |
2011 |
5
🐬
|
|
🦁
|
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
16 auth.
I. Balikova,
K. Martens,
C. Melotte,
Mustapha Amyere,
S. van Vooren,
Y. Moreau,
D. Vetrie,
H. Fiegler,
N. Carter,
T. Liehr,
...
M. Vikkula,
G. Matthijs,
J. Fryns,
I. Casteels,
K. Devriendt,
J. Vermeesch
|
5 |
2008 |
5
🦁
|
|
🐜
|
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
172 auth.
R. Masson,
M. Mazurkiewicz-Bełdzińska,
K. Rose,
L. Servais,
Hui Xiong,
E. Zanoteli,
G. Baranello,
Claudio Bruno,
J. Day,
N. Deconinck,
Andrea Klein,
Eugenio Mercuri,
Dmitry Vlodavets,
Yi Wang,
A. Dodman,
...
M. El-Khairi,
K. Gorni,
B. Jaber,
H. Kletzl,
E. Gaki,
P. Fontoura,
B. Darras,
J. Volpe,
J. Posner,
U. Kellner,
R. Quinlivan,
M. Gerber,
O. Khwaja,
R. Scalco,
T. Seabrook,
A. Koch,
I. Balikova,
I. Joniau,
Geraldine Accou,
V. Tahon,
S. Wittevrongel,
E. Vos,
R. Mendonça,
Ciro Matsui,
A. L. Darcie,
C. Machado,
M. Oyamada,
J. Martini,
G. Polido,
Juliana Rodrigues Iannicelli,
J. Ferreira,
Chaoping Hu,
Xiao-mei Zhu,
Cheng Qian,
Li-Ke Shen,
Hui Li,
Yiyun Shi,
Shuizhen Zhou,
Ying Xiao,
Zhen-Huan Zhou,
Sujuan Wang,
T. Sang,
Cui-jie Wei,
Huihui Dong,
Yiwen Cao,
Jing Wen,
Wenzhu Li,
Lun Qin,
N. Barišić,
Ivan Celovec,
Martina Galiot Delic,
P. K. Ivkić,
N. Vukojević,
Ivana Kern,
B. Najdanović,
Marin Skugor,
J. Tomas,
O. Boespflug-Tanguy,
S. D. Lucia,
A. Seferian,
E. Barreau,
Nabila Mnafek,
H. Pêche,
Allison Grange,
D. Nguyen,
Darko Milaščević,
Shotaro Tachibana,
E. Pagliano,
S. B. Marzoli,
D. Santarsiero,
M. Sierra,
G. Tremolada,
M. Arnoldi,
Marta Viganò,
C. Dosi,
R. Zanin,
Veronica Schembri,
N. Brolatti,
Giuseppe Rao,
E. Tassara,
S. Morando,
P. Tacchetti,
M. Pedemonte,
E. Priolo,
Lorenza Sposetti,
G. Comi,
A. Govoni,
S. Osnaghi,
Valeria Minorini,
F. Abbati,
F. Fassini,
M. Foà,
Amalia Lopopolo,
M. Pane,
C. Palermo,
M. Pera,
G. Amorelli,
Costanza Barresi,
Guglielmo D’Amico,
L. Orazi,
G. Coratti,
D. Leone,
Antonaci Laura,
R. D. Sanctis,
B. Berti,
Naoki Kimura,
Yasuhiro Takeshima,
H. Shimomura,
Tomoko Lee,
F. Gomi,
Takanobu Morimatsu,
T. Furukawa,
U. Stodolska-Koberda,
Agnieszka Waskowska,
Jagoda Kolendo,
Agnieszka Sobierajska-Rek,
S. Modrzejewska,
Anna Lemska,
Evgenia Melnik,
S. Artemyeva,
Natalya Leppenen,
Nataliya Yupatova,
A. Monakhova,
Yulia Papina,
Olga Shidlovsckaia,
Elena Litvinova,
C. Enzmann,
Elea Galiart,
K. Gugleta,
Christine Wondrusch Haschke,
H. Topaloğlu,
I. Oncel,
Nesibe Eroglu Ertugrul,
B. Konuşkan,
B. Eldem,
S. Kadayıfçılar,
I. Alemdaroğlu,
S. Sarı,
Neslihan Bilgin,
A. Karaduman,
F. G. Y. Sarikaya,
R. Graham,
Partha S. Ghosh,
D. Casavant,
A. Levine,
Rachael Titus,
Amanda Engelbrekt,
L. Ambrosio,
A. Fulton,
Anna Maria Baglieri,
C. Dias,
E. Maczek,
A. Pasternak,
Shannon Beres,
T. Duong,
R. Gee,
S. Young
|
5 |
2022 |
5
🐜
|
|
🐜
|
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study
207 auth.
C. Chiriboga,
Claudio Bruno,
T. Duong,
Dirk Fischer,
Eugenio Mercuri,
Janbernd Kirschner,
A. Kostera-Pruszczyk,
B. Jaber,
K. Gorni,
H. Kletzl,
I. Carruthers,
Carmen Martín,
Francis Warren,
R. Scalco,
K. Wagner,
...
F. Muntoni,
N. Deconinck,
I. Balikova,
I. Joniau,
V. Tahon,
S. Wittevrongel,
N. Goemans,
C. Cassiman,
L. Prové,
Lisa Vancampenhout,
M. Van den Hauwe,
Annelies Van Impe,
C. Cances,
V. Soler,
Lauriane Maillard De La Morandais,
Delphine Vovan,
P. Cintas,
F. Auriol,
M. Mus,
Gwennaelle Alphonsa,
Valerie Bellio,
Olaia Gil Mato,
F. Flamein,
Cécile Evrard,
Amina Ziouche,
Ikram Bouacha-Allou,
P. Debruyne,
Gilles Derlyn,
S. Defoort,
Florian Leroy,
Loïc Danjoux,
I. Desguerre,
D. Bremond-Gignac,
Maxence Rateuax,
E. Deladrière,
C. Vuillerot,
Quentin Veillerot,
Bénédicte Sibille-Dabadi,
A. Barrière,
M. Tinat,
Manel Saidi,
S. Fontaine,
Camille de Montferrand,
Laure Le-Goff,
Aurélie Portefaix,
U. W. Louvier,
P. Duval,
P. Caradec,
S. Touati,
A. Herranz,
Janbernd Kirschner,
J. Bollig,
Fanni E Molnár,
Sibylle Vogt,
A. Pechmann,
D. Schorling,
S. Wider,
H. Kölbel,
U. Schara,
F. Braun,
A. Gangfuss,
T. Hagenacker,
A. Eckstein,
D. Dekowski,
Michael Oeverhaus,
Mareile Stoehr,
B. Andres,
Karin Smuda,
E. Bertini,
A. D’Amico,
S. Petroni,
P. Valente,
Annamaria Bonetti,
A. Carlesi,
Irene Mizzoni,
Claudio Bruno,
M. Pedemonte,
N. Brolatti,
E. Priolo,
Giuseppe Rao,
Lorenza Sposetti,
S. Morando,
G. Comi,
S. Osnaghi,
Valeria Minorini,
F. Abbati,
F. Fassini,
M. Foà,
M. Lopopolo,
F. Magri,
A. Govoni,
M. Meneri,
V. Parente,
Eugenio Mercuri,
L. Antonaci,
M. Pera,
M. Pane,
G. Amorelli,
Costanza Barresi,
Guglielmo D’Amico,
L. Orazi,
G. Coratti,
R. de Sanctis,
Giuseppe Vita,
M. Sframeli,
G. Vita,
P. Aragona,
Leandro Inferrera,
E. Postorino,
D. Montanini,
Vincenzo Di Bella,
C. Donato,
Elisabetta Calà,
Ludo W. van der Pol,
Jos Aalbers,
J. D. de Boer,
Saskia Imhof,
Pascale Cooijmans,
Thijs Ruyten,
Danny R. van der Woude,
A. Kostera-Pruszczyk,
Beata Klimaszewska,
Dominika Romańczak,
Zuzanna Gierlak-Wójcicka,
Malwina Kępa,
Adam Sikorski,
M. Sobieraj,
A. Lusakowska,
B. Kierdaszuk,
Karolina Czeczko,
Dirk Fischer,
B. Henzi,
K. Gugleta,
Á. Kusnyerik,
P. Siems,
Sabina Akos,
Nora Frei,
Christine Seppi,
Christine Wondrusch Haschke,
M. Guglieri,
V. Straub,
R. Bell,
Mahmoud Nassar,
S. Page,
Michael P. Clarke,
Aedheen Regan,
A. Mayhew,
R. M. Lofra,
D. Parasuraman,
Simone Bruschi,
Abdul-Jabbar Ghauri,
A. Castle,
S. Naqvi,
N. Patt,
M. Scoto,
F. Trucco,
R. Henderson,
R. Kukadia,
W. Moore,
E. Milev,
C. Rye,
V. Selby,
Amy Wolfe,
B. Darras,
Anna Maria Baglieri,
A. Fulton,
Courtney Lucken,
E. Maczek,
A. Pasternak,
C. Chiriboga,
Steven M. Kane,
Ma Edylin M. Bautista,
E. Frommer,
Noelle Pensec,
R. Salazar,
C. Yochai,
Rafael Rodrigues-Torres,
M. Chawla,
J. Day,
Shannon Beres,
R. Gee,
S. Young,
R. Finkel,
A. Nazario,
Airaj F Fasiuddin,
J. Wells,
Jennifer Wilson,
Debbie Berry,
Virgina Rizzo,
Julie M. Duke,
M. Monduy,
J. Collado
|
5 |
2023 |
5
🐜
|
