|
π
|
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
33 auth.
David T. Miller,
M. Adam,
M. Adam,
S. Aradhya,
L. Biesecker,
A. Brothman,
N. Carter,
D. Church,
J. Crolla,
E. Eichler,
C. Epstein,
W. Faucett,
L. Feuk,
J. Friedman,
A. Hamosh,
...
L. Jackson,
E. B. Kaminsky,
K. Kok,
I. Krantz,
R. Kuhn,
Charles Lee,
J. Ostell,
C. Rosenberg,
S. Scherer,
N. Spinner,
D. Stavropoulos,
J. Tepperberg,
E. Thorland,
J. Vermeesch,
D. Waggoner,
M. Watson,
C. Martin,
D. Ledbetter
|
11 |
2010 |
11
π
|
|
π
|
The DNA sequence of the human X chromosome
282 auth.
M. Ross,
D. Grafham,
A. Coffey,
S. Scherer,
K. McLay,
D. Muzny,
M. Platzer,
G. Howell,
C. Burrows,
C. Bird,
A. Frankish,
F. Lovell,
K. Howe,
J. Ashurst,
R. Fulton,
...
R. Sudbrak,
G. Wen,
Matthew C. Jones,
M. Hurles,
T. Andrews,
C. Scott,
S. Searle,
J. Ramser,
A. Whittaker,
R. Deadman,
N. Carter,
S. Hunt,
Rui Chen,
Andrew Cree,
P. Gunaratne,
P. Havlak,
A. Hodgson,
M. Metzker,
S. Richards,
Graham Scott,
David L. Steffen,
E. Sodergren,
D. Wheeler,
K. Worley,
R. Ainscough,
K. Ambrose,
M. Ansari-Lari,
S. Aradhya,
R. Ashwell,
A. Babbage,
C. L. Bagguley,
A. Ballabio,
R. Banerjee,
Gary Barker,
K. Barlow,
I. Barrett,
K. Bates,
D. Beare,
H. Beasley,
O. Beasley,
A. Beck,
G. Bethel,
K. Blechschmidt,
N. Brady,
S. Bray-Allen,
A. M. Bridgeman,
Andrew J. Brown,
M. J. Brown,
David Bonnin,
E. Bruford,
C. Buhay,
P. Burch,
D. Burford,
J. Burgess,
W. Burrill,
J. Burton,
J. Bye,
C. Carder,
L. Carrel,
Joseph Chako,
J. Chapman,
Dean Chavez,
E. Chen,
Guan Chen,
Yuan Chen,
Zhijian Chen,
C. Chinault,
A. Ciccodicola,
S. Clark,
G. Clarke,
C. Clee,
S. Clegg,
Kerstin P. Clerc-Blankenburg,
K. Clifford,
V. Cobley,
C. Cole,
J. S. Conquer,
N. Corby,
R. Connor,
R. David,
J. Davies,
Clay Davis,
John Davis,
O. Delgado,
D. DeShazo,
P. Dhami,
Yan Ding,
H. Dinh,
S. Dodsworth,
H. Draper,
S. Dugan-Rocha,
A. Dunham,
M. Dunn,
K. Durbin,
I. Dutta,
T. Eades,
M. Ellwood,
A. EMERY-COHEN,
H. Errington,
K. Evans,
L. Faulkner,
F. Francis,
J. Frankland,
A. Fraser,
P. GalgΓ³czy,
J. Gilbert,
Rachel B. Gill,
G. GlΓΆckner,
S. Gregory,
S. Gribble,
C. Griffiths,
R. Grocock,
Yanghong Gu,
R. Gwilliam,
Cerissa Hamilton,
E. Hart,
A. Hawes,
P. Heath,
Katja Heitmann,
S. Hennig,
Judith Hernandez,
B. Hinzmann,
S. Ho,
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P. Howden,
E. Huckle,
J. Hume,
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A. Hunt,
J. Isherwood,
Leni S. Jacob,
David Johnson,
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Susan H. Kelly,
J. K. Kershaw,
Ziad Khan,
P. Kioschis,
S. Klages,
A. Knights,
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Christie Kovar-Smith,
G. Laird,
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A. McMurray,
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T. Meitinger,
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M. Morgan,
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I. MΓΌller,
J. Mullikin,
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G. Nordsiek,
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Kerry A. Ridler,
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M. G. Schueler,
H. Sehra,
C. Shaw-Smith,
Hua Shen,
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R. Shownkeen,
C. Skuce,
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E. Sotheran,
H. E. Steingruber,
C. Steward,
R. Storey,
R. Swann,
D. Swarbreck,
Paul E. Tabor,
S. Taudien,
T. Taylor,
Brian Teague,
K. Thomas,
A. Thorpe,
K. Timms,
A. Tracey,
S. Trevanion,
A. Tromans,
M. D'urso,
Daniel Verduzco,
D. Villasana,
L. Waldron,
M. Wall,
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G. Warry,
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A. West,
S. Whitehead,
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J. Yen,
Jingkun Zhang,
Jianling Zhou,
H. Zoghbi,
S. Zorilla,
D. Buck,
R. Reinhardt,
A. Poustka,
A. Rosenthal,
H. Lehrach,
A. Meindl,
P. Minx,
L. Hillier,
H. Willard,
R. Wilson,
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C. Rice,
M. Vaudin,
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J. Sulston,
R. Durbin,
Tim J. P. Hubbard,
R. Gibbs,
S. Beck,
J. Rogers,
D. Bentley
|
10 |
2005 |
10
π
|
|
π
|
Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
13 auth.
E. Riggs,
Erica F Andersen,
A. Cherry,
S. Kantarci,
H. Kearney,
Ankita Patel,
G. Raca,
D. Ritter,
S. South,
E. Thorland,
...
D. Pineda-Alvarez,
S. Aradhya,
C. Martin
|
9 |
2019 |
9
π
|
|
π
|
Genomic rearrangement in NEMO impairs NF-ΞΊB activation and is a cause of incontinentia pigmenti
27 auth.
Asmae Smahl,
G. Courtols,
Pierre Vabres,
S. Yamaoka,
S. Heuertz,
A. Munnich,
A. IsraeΜl,
Nina S. Helss,
S. Klauck,
P. Kloschls,
S. Wiemann,
A. Poustka,
Teresa Esposlto,
T. Bardaroll,
F. Gianfrancesco,
...
A. Ciccodicola,
M. D'urso,
Hayley Woffendln,
T. Jaklns,
D. Donnal,
H. Stewart,
S. Kenwrick,
S. Aradhya,
T. Yamagata,
M. Levy,
R. Lewis,
D. Nelson
|
9 |
2000 |
9
π
|
|
π
|
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
35 auth.
E. B. Kaminsky,
V. Kaul,
J. Paschall,
D. Church,
B. Bunke,
Dawn Kunig,
D. Moreno-De-Luca,
A. Moreno-De-Luca,
J. Mulle,
S. Warren,
G. Richard,
J. Compton,
A. Fuller,
Troy J. Gliem,
Shuwen Huang,
...
M. Collinson,
Sarah J. Beal,
Todd Ackley,
D. Pickering,
D. Golden,
E. Aston,
H. Whitby,
S. Shetty,
M. Rossi,
M. K. Rudd,
S. South,
A. Brothman,
W. Sanger,
R. Iyer,
J. Crolla,
E. Thorland,
S. Aradhya,
David H. Ledbetter,
David H. Ledbetter,
C. Martin
|
8 |
2011 |
8
π
|
|
π
|
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
35 auth.
D. Moreno-De-Luca,
J. Mulle,
E. B. Kaminsky,
Stephan J Sanders,
S. Myers,
M. Adam,
A. T. Pakula,
Nancy Eisenhauer,
K. Uhas,
L. Weik,
Lisa Guy,
M. Care,
C. Morel,
C. Boni,
B. Salbert,
...
Ashadeep Chandrareddy,
L. Demmer,
E. Chow,
U. Surti,
S. Aradhya,
D. Pickering,
D. Golden,
W. Sanger,
E. Aston,
A. Brothman,
Troy J. Gliem,
E. Thorland,
Todd Ackley,
R. Iyer,
Shuwen Huang,
J. Barber,
J. Crolla,
S. Warren,
C. Martin,
D. Ledbetter
|
8 |
2010 |
8
π
|
|
π
|
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
27 auth.
A. Smahi,
G. Courtois,
Pierre Vabres,
S. Yamaoka,
S. Heuertz,
A. Munnich,
A. IsraeΜl,
N. Heiss,
S. Klauck,
P. Kioschis,
S. Wiemann,
A. Poustka,
T. Esposito,
T. Bardaro,
F. Gianfrancesco,
...
A. Ciccodicola,
M. D'urso,
H. Woffendin,
T. Jakins,
D. Donnai,
H. Stewart,
S. Kenwrick,
S. Aradhya,
T. Yamagata,
M. Levy,
R. Lewis,
D. Nelson
|
8 |
2000 |
8
π
|
|
π
|
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
50 auth.
D. Koolen,
Andrew J. Sharp,
Andrew J. Sharp,
Jane A. Hurst,
H. Firth,
S. Knight,
A. Goldenberg,
P. Saugier-Veber,
R. Pfundt,
L. Vissers,
A. DestrΔe,
B. Grisart,
Liesbeth Rooms,
N. Aa,
Michael Field,
...
A. Hackett,
Kathleen Bell,
MaΕgorzata J. M. Nowaczyk,
G. M. Mancini,
P. Poddighe,
C. Schwartz,
Emilio Rossi,
M. Gregori,
L. Antonacci-Fulton,
M. McLellan,
J. Garrett,
M. Wiechert,
T. Miner,
Seth D. Crosby,
R. Ciccone,
L. Willatt,
Anita Rauch,
Martin Zenker,
S. Aradhya,
Melanie A. Manning,
T. Strom,
J. Wagenstaller,
A. Krepischi-Santos,
A. Vianna-Morgante,
Carla Rosenberg,
S. Price,
H. Stewart,
C. Shaw-Smith,
H. Brunner,
A O Wilkie,
J. Veltman,
O. Zuffardi,
Evan E. Eichler,
Evan E. Eichler,
B. Vries
|
7 |
2008 |
7
π
|
|
π
|
A cross-disorder dosage sensitivity map of the human genome
34 auth.
Ryan L. Collins,
J. Glessner,
E. Porcu,
Theodore J. Morley,
Lisa-Marie Niestroj,
J. Ulirsch,
Georgios Kellaris,
D. Howrigan,
S. Everett,
Kiana Mohajeri,
X. Nuttle,
Chelsea Lowther,
Jack M. Fu,
Philip M Boone,
Farid Ullah,
...
K. Samocha,
K. Karczewski,
D. Lucente,
J. Gusella,
H. Finucane,
L. Matyakhina,
S. Aradhya,
J. Meck,
Dennis Lal,
B. Neale,
Jennelle C Hodge,
A. Reymond,
Z. Kutalik,
N. Katsanis,
E. Davis,
H. Hakonarson,
S. Sunyaev,
H. Brand,
M. Talkowski
|
7 |
2021 |
7
π
|
|
π
|
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
19 auth.
A. Piton,
J. Michaud,
Huashan Peng,
S. Aradhya,
J. Gauthier,
L. Mottron,
N. Champagne,
R. LafreniΓ©re,
F. Hamdan,
R. Joober,
...
E. Fombonne,
C. Marineau,
P. Cossette,
M. DubΓ©,
Pejmun Haghighi,
P. Drapeau,
P. Barker,
S. Carbonetto,
G. Rouleau
|
7 |
2008 |
7
π
|
|
π¦
|
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
13 auth.
S. Aradhya,
H. Woffendin,
T. Jakins,
T. Bardaro,
Teresa Esposito,
A. Smahi,
Christine J. Shaw,
Moise L. Levy,
A. Munnich,
Michele D'Urso,
...
Richard A. Lewis,
S. Kenwrick,
David L. Nelson
|
7 |
2001 |
7
π¦
|
|
π
|
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
24 auth.
S. Kenwrick,
H. Woffendin,
T. Jakins,
S. Shuttleworth,
E. Mayer,
L. Greenhalgh,
J. Whittaker,
S. Rugolotto,
T. Bardaro,
T. Esposito,
...
M. D'urso,
F. Soli,
A. Turco,
A. Smahi,
D. Hamel-Teillac,
S. Lyonnet,
J. Bonnefont,
Arnold Munnich,
S. Aradhya,
C. Kashork,
L. Shaffer,
D. Nelson,
M. Levy,
R. Lewis
|
7 |
2001 |
7
π
|
