|
🐜
|
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
149 auth.
C. Redin,
H. Brand,
Ryan L. Collins,
T. Kammin,
Elyse B Mitchell,
Jennelle C Hodge,
Carrie Hanscom,
V. Pillalamarri,
C. Seabra,
M. Abbott,
Omar Abdul-Rahman,
E. Åberg,
Rhett Adley,
S. Alcaraz-Estrada,
F. Alkuraya,
...
Y. An,
M. Anderson,
Caroline Antolik,
K. Anyane-Yeboa,
Joan F. Atkin,
Tina M Bartell,
Jonathan A Bernstein,
Elizabeth Beyer,
Ian Blumenthal,
E. Bongers,
E. H. Brilstra,
Chester W. Brown,
H. Brüggenwirth,
B. Callewaert,
Colby Chiang,
K. Corning,
H. Cox,
E. Cuppen,
Benjamin Currall,
T. Cushing,
D. David,
M. Deardorff,
A. Dheedene,
M. D’hooghe,
B. Vries,
Dawn L. Earl,
H. Ferguson,
Heather Fisher,
David R Fitzpatrick,
P. Gerrol,
D. Giachino,
J. Glessner,
Troy J. Gliem,
M. Grady,
Brett H. Graham,
Cristin Griffis,
K. Gripp,
A. Gropman,
Andrea Hanson‐Kahn,
David J Harris,
M. Hayden,
Rosamund Hill,
R. Hochstenbach,
Jodi D. Hoffman,
R. J. Hopkin,
M. W. Hubshman,
A. M. Innes,
M. Irons,
M. Irving,
J. Jacobsen,
S. Janssens,
T. Jewett,
John P Johnson,
M. Jongmans,
Stephen Kahler,
D. Koolen,
J. Korzelius,
P. Kroisel,
Y. Lacassie,
W. Lawless,
E. Lemyre,
K. Leppig,
Alex V. Levin,
Haibo Li,
Hong Li,
Eric C. Liao,
Cynthia Lim,
E. Lose,
D. Lucente,
M. Macera,
Poornima Manavalan,
G. Mandrile,
Carlo L. Marcelis,
L. Margolin,
Tamara Mason,
D. Masser-Frye,
Michael W. McClellan,
Cinthya J Zepeda Mendoza,
B. Menten,
Sjors Middelkamp,
L. Mikami,
Emily J. Moe,
S. Mohammed,
T. Mononen,
Megan Mortenson,
Graciela Moya,
A. Nieuwint,
Zehra Ordulu,
S. Parkash,
Susan P Pauker,
S. Pereira,
Danielle L Perrin,
K. Phelan,
Raul E Piña Aguilar,
P. Poddighe,
Giulia Pregno,
S. Raskin,
L. Reis,
W. Rhead,
D. Rita,
I. Renkens,
F. Roelens,
Jayla Ruliera,
P. Rump,
Samantha L. P. Schilit,
R. Shaheen,
R. Sparkes,
Erica S. Spiegel,
B. Stevens,
M. Stone,
Julia Tagoe,
J. Thakuria,
B. V. Bon,
Jiddeke van de Kamp,
I. Burgt,
T. Essen,
C. V. Ravenswaaij-Arts,
M. V. Roosmalen,
S. Vergult,
Catharina M. L. Volker-Touw,
Dorothy P Warburton,
Matthew J. Waterman,
S. Wiley,
Anna Wilson,
Maria de la Concepcion A Yerena-de Vega,
Roberto T Zori,
B. Levy,
Han G. Brunner,
N. Leeuw,
W. Kloosterman,
E. Thorland,
Cynthia C Morton,
J. Gusella,
M. Talkowski
|
8 |
2016 |
8
🐜
|
|
🐜
|
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
32 auth.
A. C. Lionel,
A. Vaags,
Daisuke Sato,
Matthew J. Gazzellone,
Elyse B Mitchell,
Hong Chen,
Gregory Costain,
S. Walker,
Gerald Egger,
B. Thiruvahindrapuram,
D. Merico,
Aparna Prasad,
E. Anagnostou,
E. Fombonne,
L. Zwaigenbaum,
...
W. Roberts,
P. Szatmari,
B. Fernandez,
L. Georgieva,
L. Brzustowicz,
K. Roetzer,
W. Kaschnitz,
J. Vincent,
C. Windpassinger,
C. Marshall,
R. Trifiletti,
S. Kirmani,
G. Kirov,
E. Petek,
Jennelle C Hodge,
A. Bassett,
S. Scherer
|
7 |
2013 |
7
🐜
|
|
🐜
|
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
206 auth.
M. N. Loviglio,
M. Leleu,
K. Männik,
K. Männik,
M. Passeggeri,
G. Giannuzzi,
I. V. D. Werf,
Sebastian M. Waszak,
Sebastian M. Waszak,
Sebastian M. Waszak,
M. Zazhytska,
I. Roberts-Caldeira,
N. Gheldof,
E. Migliavacca,
E. Migliavacca,
...
A. Alfaiz,
A. Alfaiz,
L. Hippolyte,
A. Maillard,
M. N. Loviglio,
K. Männik,
K. Männik,
I. V. D. Werf,
G. Giannuzzi,
M. Zazhytska,
N. Gheldof,
E. Migliavacca,
E. Migliavacca,
A. Alfaiz,
A. Alfaiz,
I. Roberts-Caldeira,
L. Hippolyte,
A. Maillard,
A. Ferrarini,
Florence Niel Butschi,
Florence Niel Butschi,
B. Conrad,
B. Conrad,
M. Addor,
M. Addor,
M. Belfiore,
M. Belfiore,
K. Roetzer,
K. Roetzer,
A. Dijck,
B. Blaumeiser,
R. Kooy,
F. Roelens,
A. Dheedene,
B. D. Chiaie,
B. Menten,
A. Oostra,
J. Caberg,
M. Carter,
B. Kellam,
D. Stavropoulos,
C. Marshall,
S. Scherer,
R. Weksberg,
C. Cytrynbaum,
A. Bassett,
Chelsea Lowther,
J. Gillis,
S. MacKay,
I. Bache,
L. Ousager,
M. Smerdel,
J. Graakjaer,
S. Kjaergaard,
A. Metspalu,
M. Mathieu,
D. Bonneau,
A. Guichet,
P. Parent,
C. Férec,
M. Gérard,
G. Plessis,
J. Lespinasse,
A. Masurel,
N. Marle,
L. Faivre,
P. Callier,
V. Layet,
N. L. Meur,
C. L. Goff,
B. Duban‐Bedu,
S. Sukno,
O. Boute,
J. Andrieux,
P. Blanchet,
D. Geneviève,
J. Puechberty,
A. Schneider,
B. Leheup,
P. Jonveaux,
S. Mercier,
A. David,
C. Caignec,
L. Pontual,
E. Pipiras,
A. Jacquette,
B. Keren,
B. Gilbert-Dussardier,
F. Bilan,
A. Goldenberg,
P. Chambon,
A. Toutain,
M. Till,
D. Sanlaville,
B. Leube,
B. Royer-Pokora,
H. Grabe,
C. Schmidt,
C. Schurmann,
G. Homuth,
G. Thorleifsson,
U. Thorsteinsdóttir,
L. Bernardini,
A. Novelli,
L. Micale,
G. Merla,
M. Zollino,
F. Mari,
C. L. Rizzo,
A. Renieri,
M. Silengo,
A. V. Silfhout,
M. Schouten,
R. Pfundt,
N. Leeuw,
F. Vansenne,
S. Maas,
D. Barge-Schaapveld,
A. C. Knegt,
B. Stadheim,
O. Rødningen,
G. Houge,
S. Price,
L. Hawkes,
Carolyn Campbell,
U. Kini,
J. Vogt,
R. Walters,
A. Blakemore,
J. Gusella,
Yiping Shen,
D. Scott,
C. Bacino,
K. Tsuchiya,
R. Ladda,
S. Sell,
A. Asamoah,
A. Hamati,
J. Rosenfeld,
L. Shaffer,
Elyse B Mitchell,
Jennelle C Hodge,
J. Beckmann,
J. Beckmann,
S. Jacquemont,
A. Reymond,
Lisa J Ewans,
D. Mowat,
Jan Walker,
D. Amor,
H. Esch,
P. Leroy,
J. Bamforth,
Deepti Babu,
B. Isidor,
N. Didonato,
K. Hackmann,
M. Passeggeri,
A. Haeringen,
Rosemarie Smith,
S. Ellingwood,
D. Farber,
V. Puri,
N. Zadeh,
D. Weaver,
Mandy Miller,
T. Wilks,
C. Jorgez,
D. Lafayette,
A. Dijck,
R. Kooy,
D. Sanlaville,
J. Rosenfeld,
L. Shaffer,
J. Andrieux,
C. Marshall,
S. Scherer,
Y. Shen,
J. Gusella,
U. Thorsteinsdóttir,
G. Thorleifsson,
E. Dermitzakis,
E. Dermitzakis,
B. Deplancke,
B. Deplancke,
J. Beckmann,
J. Beckmann,
J. Rougemont,
J. Rougemont,
S. Jacquemont,
A. Reymond
|
6 |
2016 |
6
🐜
|
|
🐜
|
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
29 auth.
Jennelle C Hodge,
Elyse B Mitchell,
V. Pillalamarri,
Tomi L. Toler,
F. Bartel,
H. Kearney,
Y. Zou,
Wen‐Han Tan,
Carrie Hanscom,
S. Kirmani,
R. Hanson,
Steven A. Skinner,
R. Rogers,
D. Everman,
E. Boyd,
...
C. Tapp,
Sureni V. Mullegama,
Debra J Keelean-Fuller,
C. Powell,
S. Elsea,
C. Morton,
C. Morton,
J. Gusella,
J. Gusella,
B. Dupont,
A. Chaubey,
A. Lin,
M. Talkowski,
M. Talkowski
|
6 |
2014 |
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
🐜
|
|
🐜
|
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
15 auth.
H. Brand,
Ryan L. Collins,
Carrie Hanscom,
J. Rosenfeld,
V. Pillalamarri,
M. Stone,
Fontina Kelley,
Tamara Mason,
L. Margolin,
Stacey Eggert,
...
Elyse B Mitchell,
Jennelle C Hodge,
J. Gusella,
Stephan J Sanders,
M. Talkowski
|
5 |
2015 |
5
🐜
|
|
🦁
|
Recurrent duplications of 17q12 associated with variable phenotypes
32 auth.
Elyse B Mitchell,
Andrew Douglas,
Susanne Kjaegaard,
B. Callewaert,
A. Vanlander,
S. Janssens,
A. Yuen,
C. Skinner,
P. Failla,
A. Alberti,
E. Avola,
M. Fichera,
M. Kibaek,
M. Digilio,
M. Hannibal,
...
N. D. den Hollander,
V. Bizzarri,
A. Renieri,
M. Mencarelli,
Tomas W. Fitzgerald,
S. Piazzolla,
Elke Van Oudenhove,
C. Romano,
C. Schwartz,
E. Eichler,
A. Slavotinek,
Luis Fernando González Escobar,
D. Rajan,
J. Crolla,
N. Carter,
Jennelle C Hodge,
H. Mefford
|
4 |
2015 |
4
🦁
|
|
🐬
|
17q12 Recurrent Duplication
H. Mefford,
Elyse B Mitchell,
Jennelle C Hodge
|
4 |
2016 |
4
🐬
|
|
🐜
|
The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing
9 auth.
K. Wain,
E. Riggs,
Karen Hanson,
Melissa Savage,
D. Riethmaier,
Andrea Muirhead,
...
Elyse B Mitchell,
Bethanny Smith Packard,
W. Faucett
|
3 |
2012 |
3
🐜
|
