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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
84 auth.
H. Mefford,
A. Sharp,
Carl A. Baker,
A. Itsara,
Zhaoshi Jiang,
K. Buysse,
Shuwen Huang,
V. Maloney,
J. Crolla,
D. Baralle,
A. Collins,
C. Mercer,
Koen Norga,
T. de Ravel,
K. Devriendt,
...
E. Bongers,
N. de Leeuw,
W. Reardon,
S. Gimelli,
F. Béna,
R. Hennekam,
Alison M. Male,
L. Gaunt,
J. Clayton-Smith,
I. Simonic,
Soo-Mi Park,
S. Mehta,
S. Nik-Zainal,
C. Woods,
H. Firth,
G. Parkin,
M. Fichera,
S. Reitano,
M. Giudice,
Kelly Li,
I. Casuga,
A. Broomer,
B. Conrad,
M. Schwerzmann,
L. Räber,
S. Gallati,
P. Striano,
A. Coppola,
J. Tolmie,
E. Tobias,
C. Lilley,
L. Armengol,
Y. Spysschaert,
P. Verloo,
Anja De Coene,
L. Goossens,
G. Mortier,
F. Speleman,
E. van Binsbergen,
M. Nelen,
R. Hochstenbach,
M. Poot,
L. Gallagher,
M. Gill,
J. McClellan,
M. King,
R. Regan,
C. Skinner,
R. Stevenson,
S. Antonarakis,
Caifu Chen,
X. Estivill,
B. Menten,
G. Gimelli,
S. Gribble,
S. Schwartz,
J. Sutcliffe,
T. Walsh,
S. Knight,
J. Sebat,
C. Romano,
C. Schwartz,
J. Veltman,
B. D. de Vries,
J. Vermeesch,
J. Barber,
L. Willatt,
M. Tassabehji,
E. Eichler
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9 |
2008 |
9
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LNCipedia: a database for annotated human lncRNA transcript sequences and structures
8 auth.
P. Volders,
Kenny Helsens,
Xiaowei Wang,
B. Menten,
L. Martens,
K. Gevaert,
...
J. Vandesompele,
P. Mestdagh
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8 |
2012 |
8
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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
21 auth.
J. Hellemans,
O. Preobrazhenska,
A. Willaert,
P. Debeer,
P. Verdonk,
T. Costa,
K. Janssens,
B. Menten,
N. Roy,
S. Vermeulen,
...
R. Savarirayan,
W. Hul,
F. Vanhoenacker,
D. Huylebroeck,
A. Paepe,
J. Naeyaert,
J. Vandesompele,
F. Speleman,
K. Verschueren,
P. Coucke,
G. Mortier
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8 |
2004 |
8
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A link between host plant adaptation and pesticide resistance in the polyphagous spider mite Tetranychus urticae
9 auth.
W. Dermauw,
Nicky Wybouw,
S. Rombauts,
B. Menten,
J. Vontas,
M. Grbic,
...
Richard M. Clark,
R. Feyereisen,
T. Van Leeuwen
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8 |
2012 |
8
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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,
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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,
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L. Reis,
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Jayla Ruliera,
P. Rump,
Samantha L. P. Schilit,
R. Shaheen,
R. Sparkes,
Erica S. Spiegel,
B. Stevens,
M. Stone,
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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,
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Maria de la Concepcion A Yerena-de Vega,
Roberto T Zori,
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Han G. Brunner,
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E. Thorland,
Cynthia C Morton,
J. Gusella,
M. Talkowski
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8 |
2016 |
8
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Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
22 auth.
W. Kloosterman,
Masoumeh Tavakoli-Yaraki,
M. V. van Roosmalen,
E. van Binsbergen,
I. Renkens,
K. Duran,
L. Ballarati,
S. Vergult,
D. Giardino,
K. Hansson,
...
C. Ruivenkamp,
M. Jager,
A. van Haeringen,
E. Ippel,
T. Haaf,
E. Passarge,
R. Hochstenbach,
B. Menten,
L. Larizza,
V. Guryev,
M. Poot,
E. Cuppen
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7 |
2012 |
7
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|
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
30 auth.
N. van der Aa,
Liesbeth Rooms,
G. Vandeweyer,
J. van den Ende,
E. Reyniers,
M. Fichera,
C. Romano,
B. Delle Chiaie,
G. Mortier,
B. Menten,
A. Destrėe,
I. Maystadt,
K. Männik,
A. Kurg,
T. Reimand,
...
D. McMullan,
C. Oley,
L. Brueton,
E. Bongers,
B. V. van Bon,
Rolph Pfund,
S. Jacquemont,
A. Ferrarini,
D. Martinet,
C. Schrander‐Stumpel,
A. Stegmann,
S. Frints,
B. D. de Vries,
B. Ceulemans,
R. Kooy
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7 |
2009 |
7
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|
🐜
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The H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia.
23 auth.
Joni Van der Meulen,
Viraj R Sanghvi,
Konstantinos J. Mavrakis,
K. Durinck,
F. Fang,
F. Matthijssens,
P. Rondou,
M. Rosen,
T. Pieters,
P. Vandenberghe,
...
É. Delabesse,
T. Lammens,
B. De Moerloose,
B. Menten,
N. Van Roy,
B. Verhasselt,
B. Poppe,
Y. Benoît,
T. Taghon,
A. Melnick,
F. Speleman,
H. Wendel,
P. Van Vlierberghe
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7 |
2014 |
7
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
124 auth.
D. Braun,
Jia Rao,
G. Mollet,
G. Mollet,
D. Schapiro,
M. Daugeron,
Weizhen Tan,
O. Gribouval,
O. Gribouval,
O. Boyer,
O. Boyer,
Patrick Revy,
Patrick Revy,
Tilman Jobst-Schwan,
J. Schmidt,
...
Jennifer A. Lawson,
D. Schanze,
S. Ashraf,
Jeremy F.P. Ullmann,
Charlotte A. Hoogstraten,
Nathalie Boddaert,
Nathalie Boddaert,
B. Collinet,
B. Collinet,
G. Martin,
G. Martin,
D. Liger,
S. Lovric,
M. Furlano,
M. Furlano,
M. Furlano,
I. C. Guerrera,
Oraly Sanchez-Ferras,
Jennifer F. Hu,
Anne-Claire Boschat,
Sylvia Sanquer,
Sylvia Sanquer,
B. Menten,
S. Vergult,
N. D. Rocker,
Merlin Airik,
Tobias Hermle,
S. Shril,
E. Widmeier,
E. Widmeier,
H. Gee,
H. Gee,
Won-Il Choi,
C. E. Sadowski,
Werner L. Pabst,
Jillian K. Warejko,
Ankana Daga,
T. Basta,
Verena Matejas,
K. Scharmann,
K. Scharmann,
Sandra D. Kienast,
Sandra D. Kienast,
Babak Behnam,
Babak Behnam,
B. Beeson,
Amber Begtrup,
M. Bruce,
G. Ch'ng,
Shuan-pei Lin,
Shuan-pei Lin,
Jui-Hsing Chang,
Chao Huei Chen,
M. Cho,
P. Gaffney,
P. Gipson,
Chyong-hsin Hsu,
J. Kari,
Y. Ke,
C. Kiraly-Borri,
Wai Ming Lai,
E. Lemyre,
R.O. Littlejohn,
A. Masri,
M. Moghtaderi,
Kazuyuki Nakamura,
F. Ozaltın,
M. Praet,
C. Prasad,
A. Prytuła,
Elizabeth R. Roeder,
P. Rump,
R. Schnur,
T. Shiihara,
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Neveen A. Soliman,
K. Soulami,
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J. Tsai,
J. Tsai,
J. Tsai,
R. Topaloğlu,
U. Vester,
David Viskochil,
N. Vatanavicharn,
Jessica L. Waxler,
K. Wierenga,
M. T. Wolf,
Sik Nin Wong,
S. A. Leidel,
S. A. Leidel,
Gessica Truglio,
P. Dedon,
P. Dedon,
A. Poduri,
Shrikant Mane,
R. Lifton,
R. Lifton,
M. Bouchard,
P. Kannu,
D. Chitayat,
D. Magen,
B. Callewaert,
H. Tilbeurgh,
M. Zenker,
C. Antignac,
C. Antignac,
F. Hildebrandt
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7 |
2017 |
7
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Targeted Expression of Mutated ALK Induces Neuroblastoma in Transgenic Mice
25 auth.
L. Heukamp,
T. Thor,
A. Schramm,
K. De Preter,
C. Kumps,
Bram de Wilde,
A. Odersky,
M. Peifer,
S. Lindner,
Annika Spruessel,
F. Pattyn,
P. Mestdagh,
B. Menten,
S. Kuhfittig-Kulle,
A. Künkele,
...
K. König,
Lydia Meder,
Sampurna Chatterjee,
R. Ullrich,
S. Schulte,
J. Vandesompele,
F. Speleman,
R. Büttner,
A. Eggert,
J. Schulte
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7 |
2012 |
7
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|
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Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis
14 auth.
J. Vermeesch,
C. Melotte,
G. Froyen,
S. van Vooren,
B. Dutta,
N. Maas,
S. Vermeulen,
B. Menten,
F. Speleman,
B. De Moor,
...
P. Van Hummelen,
P. Marynen,
J. Fryns,
K. Devriendt
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7 |
2005 |
7
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