|
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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
55 auth.
M. Bonaglia,
R. Giorda,
Silvana Beri,
Cristina De Agostini,
F. Novara,
M. Fichera,
L. Grillo,
O. Galesi,
A. Vetro,
R. Ciccone,
M. Bonati,
S. Giglio,
R. Guerrini,
S. Osimani,
S. Marelli,
...
C. Zucca,
Rita Grasso,
R. Borgatti,
E. Mani,
Cristina Motta,
M. Molteni,
C. Romano,
D. Greco,
S. Reitano,
A. Baroncini,
E. Lapi,
A. Cecconi,
G. Arrigo,
M. Patricelli,
C. Pantaleoni,
S. D'Arrigo,
D. Riva,
F. Sciacca,
B. dalla Bernardina,
L. Zoccante,
F. Darra,
C. Termine,
E. Maserati,
S. Bigoni,
Emanuela Priolo,
A. Bottani,
S. Gimelli,
F. Béna,
A. Brusco,
E. di Gregorio,
Irene Bagnasco,
U. Giussani,
L. Nitsch,
P. Politi,
M. Martínez‐Frías,
M. Martínez-Fernández,
N. Martínez Guardia,
A. Bremer,
B. Anderlid,
O. Zuffardi
|
7 |
2011 |
7
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|
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
56 auth.
Lucilla Pizzo,
Matthew Jensen,
Andrew Polyak,
J. Rosenfeld,
Katrin Mannik,
Arjun Krishnan,
E. McCready,
Olivier Pichon,
C. Le Caignec,
Anke Van Dijck,
K. Pope,
E. Voorhoeve,
J. Yoon,
P. Stankiewicz,
S. Cheung,
...
D. Pazuchanics,
Emily Huber,
Vijay Kumar,
Rachel L. Kember,
F. Mari,
Aurora Curró,
L. Castiglia,
O. Galesi,
E. Avola,
T. Mattina,
M. Fichera,
Luana Mandarà,
M. Vincent,
M. Nizon,
S. Mercier,
C. Bénéteau,
S. Blesson,
D. Martin‐Coignard,
Anne-Laure Mosca-Boidron,
J. Caberg,
M. Bucan,
S. Zeesman,
M. Nowaczyk,
M. Lefebvre,
L. Faivre,
P. Callier,
C. Skinner,
B. Keren,
Charles Perrine,
P. Prontera,
N. Marle,
A. Renieri,
A. Reymond,
R. Kooy,
B. Isidor,
C. Schwartz,
C. Romano,
E. Sistermans,
D. Amor,
J. Andrieux,
S. Girirajan
|
7 |
2018 |
7
🐜
|
|
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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
23 auth.
E. Rossi,
Flavia Piccini,
M. Zollino,
G. Neri,
D. Caselli,
R. Tenconi,
C. Castellan,
R. Carrozzo,
C. Danesino,
O. Zuffardi,
...
A. Ragusa,
L. Castiglia,
O. Galesi,
D. Greco,
C. Romano,
M. Pierluigi,
C. Perfumo,
M. Di Rocco,
F. Faravelli,
F. Bricarelli,
M. Bonaglia,
M. Bedeschi,
R. Borgatti
|
7 |
2001 |
7
🐜
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🐜
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Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
31 auth.
J. Schuurs-Hoeijmakers,
A. V. Vulto-van Silfhout,
L. Vissers,
Ilse van de Vondervoort,
B. V. van Bon,
J. de Ligt,
C. Gilissen,
J. Hehir-Kwa,
K. Neveling,
Marisol Del Rosario,
Gausiya Hira,
S. Reitano,
Aurelio Vitello,
P. Failla,
D. Greco,
...
M. Fichera,
O. Galesi,
T. Kleefstra,
M. Greally,
C. Ockeloen,
M. Willemsen,
E. Bongers,
I. Janssen,
R. Pfundt,
J. Veltman,
C. Romano,
M. Willemsen,
H. van Bokhoven,
H. Brunner,
B. D. de Vries,
A. D. de Brouwer
|
6 |
2013 |
6
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|
|
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
98 auth.
Madelyn A. Gillentine,
Tianyun Wang,
Kendra Hoekzema,
J. Rosenfeld,
Pengfei Liu,
Hui Guo,
Chang N. Kim,
B. D. de Vries,
L. Vissers,
M. Nordenskjold,
M. Kvarnung,
A. Lindstrand,
A. Nordgren,
J. Gécz,
M. Iascone,
...
A. Cereda,
Agnese Scatigno,
S. Maitz,
G. Zanni,
E. Bertini,
C. Zweier,
S. Schuhmann,
Antje Wiesener,
Micah Pepper,
Heena Panjwani,
E. Torti,
Farida Abid,
I. Anselm,
S. Srivastava,
P. Atwal,
C. Bacino,
Gifty Bhat,
Katherine Cobian,
L. Bird,
J. Friedman,
M. Wright,
B. Callewaert,
F. Petit,
Sophie Mathieu,
A. Afenjar,
Celenie K. Christensen,
Kerry M. White,
O. Elpeleg,
Itai Berger,
Edward Espineli,
C. Fagerberg,
C. Brasch-Andersen,
L. K. Hansen,
T. Feyma,
S. Hughes,
I. Thiffault,
Bonnie R. Sullivan,
Shuang Yan,
Kory Keller,
B. Keren,
C. Mignot,
F. Kooy,
M. Meuwissen,
Alice A. Basinger,
M. Kukolich,
Meredith Philips,
Lucia Ortega,
M. Drummond-Borg,
Mathilde F Lauridsen,
K. Sørensen,
A. Lehman,
E. Lopez-Rangel,
P. Levy,
D. Lessel,
T. Lotze,
Suneeta Madan‐Khetarpal,
Jessica Sebastian,
Jodie M. Vento,
D. Vats,
L. M. Benman,
S. McKee,
G. Mirzaa,
Candace Muss,
J. Pappas,
H. Peeters,
C. Romano,
M. Elia,
O. Galesi,
Marleen E. H. Simon,
K. V. van Gassen,
Kara L Simpson,
R. Stratton,
Sabeena Syed,
J. Thevenon,
I. V. Palafoll,
A. Vitobello,
M. Bournez,
L. Faivre,
K. Xia,
Rachel K. Earl,
T. Nowakowski,
R. Bernier,
E. Eichler
|
5 |
2021 |
5
🐜
|
|
🐜
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1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features
9 auth.
A. Alberti,
C. Romano,
M. Falco,
F. Calì,
P. Schinocca,
O. Galesi,
...
A. Spalletta,
D. Benedetto,
M. Fichera
|
5 |
2007 |
5
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|
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6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases
16 auth.
M. Elia,
P. Striano,
M. Fichera,
R. Gaggero,
L. Castiglia,
O. Galesi,
M. Malacarne,
M. Pierluigi,
C. Amato,
S. Musumeci,
...
C. Romano,
S. Majore,
P. Grammatico,
F. Zara,
S. Striano,
F. Faravelli
|
5 |
2006 |
5
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|
🐢
|
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q
10 auth.
P. Failla,
Carrado Romano,
A. Alberti,
A. Vasta,
S. Buono,
L. Castiglia,
...
D. Luciano,
D. Benedetto,
M. Fichera,
O. Galesi
|
5 |
2007 |
5
🐢
|
|
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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
73 auth.
Hui Guo,
Ying Li,
Lu Shen,
Tianyun Wang,
Xiangbin Jia,
Lijuan Liu,
Tao Xu,
Mengzhu Ou,
Kendra Hoekzema,
Huidan Wu,
Madelyn A. Gillentine,
Cenying Liu,
Hailun Ni,
Pengwei Peng,
Rongjuan Zhao,
...
Yu Zhang,
C. Phornphutkul,
A. Stegmann,
C. Prada,
R. Hopkin,
Joseph T C Shieh,
K. McWalter,
K. Monaghan,
P. V. van Hasselt,
K. V. van Gassen,
Ting Bai,
M. Long,
Lin Han,
Yingting Quan,
Meilin Chen,
Yaowen Zhang,
Kuokuo Li,
Qiumeng Zhang,
Jieqiong Tan,
T. Zhu,
Yaning Liu,
N. Pang,
Jingbo Peng,
D. Scott,
S. Lalani,
M. Azamian,
G. Mancini,
Darius J. Adams,
M. Kvarnung,
A. Lindstrand,
A. Nordgren,
J. Pevsner,
I. Osei-Owusu,
C. Romano,
G. Calabrese,
O. Galesi,
J. Gécz,
E. Haan,
J. Ranells,
Melissa Racobaldo,
M. Nordenskjold,
Suneeta Madan‐Khetarpal,
Jessica Sebastian,
S. Ball,
Xiaobing Zou,
Jingping Zhao,
Zhengmao Hu,
F. Xia,
Pengfei Liu,
J. Rosenfeld,
B. D. de Vries,
R. Bernier,
Z. Xu,
Honghui Li,
Wei Xie,
R. Hufnagel,
E. Eichler,
K. Xia
|
5 |
2019 |
5
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