|
🐜
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Genome sequencing identifies major causes of severe intellectual disability
21 auth.
C. Gilissen,
J. Hehir-Kwa,
Djie Tjwan Thung,
M. Vorst,
B. Bon,
M. Willemsen,
Michael P. Kwint,
I. Janssen,
A. Hoischen,
A. Schenck,
...
R. Leach,
Robert Klein,
R. Tearle,
Tan Bo,
R. Pfundt,
H. Yntema,
B. Vries,
T. Kleefstra,
H. Brunner,
L. Vissers,
J. Veltman
|
10 |
2014 |
10
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|
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Refining analyses of copy number variation identifies specific genes associated with developmental delay
39 auth.
Bradley P. Coe,
Kali T. Witherspoon,
J. Rosenfeld,
B. V. van Bon,
A. V. Vulto-van Silfhout,
P. Bosco,
K. Friend,
Carl A. Baker,
S. Buono,
L. Vissers,
J. Schuurs-Hoeijmakers,
A. Hoischen,
R. Pfundt,
Niklas Krumm,
G. Carvill,
...
Deana D. Li,
D. Amaral,
N. Brown,
P. Lockhart,
I. Scheffer,
A. Alberti,
M. Shaw,
R. Pettinato,
R. Tervo,
N. de Leeuw,
Margot R. F. Reijnders,
B. Torchia,
H. Peeters,
E. Thompson,
B. O’Roak,
M. Fichera,
J. Hehir-Kwa,
J. Shendure,
H. Mefford,
E. Haan,
J. Gécz,
B. D. de Vries,
C. Romano,
E. Eichler
|
9 |
2014 |
9
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|
|
🐜
|
Diagnostic genome profiling in mental retardation.
18 auth.
B. D. de Vries,
R. Pfundt,
Martijn A. R. Leisink,
D. Koolen,
L. Vissers,
I. Janssen,
S. Reijmersdal,
W. Nillesen,
Erik Huys,
N. Leeuw,
...
D. Smeets,
E. Sistermans,
T. Feuth,
C. V. van Ravenswaaij-Arts,
A. V. van Kessel,
E. Schoenmakers,
H. Brunner,
J. Veltman
|
9 |
2005 |
9
🐜
|
|
🐜
|
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
20 auth.
D. Koolen,
L. Vissers,
R. Pfundt,
N. de Leeuw,
S. Knight,
R. Regan,
R. Kooy,
E. Reyniers,
C. Romano,
M. Fichera,
...
A. Schinzel,
A. Baumer,
B. Anderlid,
J. Schoumans,
N. Knoers,
A. V. van Kessel,
E. Sistermans,
J. Veltman,
H. Brunner,
B. D. de Vries
|
8 |
2006 |
8
🐜
|
|
🐜
|
Evidence for 28 genetic disorders discovered by combining healthcare and research data
281 auth.
J. Kaplanis,
K. Samocha,
L. Wiel,
Zhancheng Zhang,
Kevin J. Arvai,
R. Y. Eberhardt,
G. Gallone,
Stefan H. Lelieveld,
H. Martin,
J. McRae,
Patrick J. Short,
R. Torene,
E. de Boer,
P. Danecek,
E. Gardner,
...
N. Huang,
J. Lord,
I. Martincorena,
R. Pfundt,
Margot R. F. Reijnders,
A. Yeung,
H. Yntema,
Silvia Borras,
C. Clark,
J. Dean,
Z. Miedzybrodzka,
A. Ross,
S. Tennant,
T. Dabir,
D. Donnelly,
M. Humphreys,
A. Magee,
V. Mcconnell,
S. McKee,
S. McNerlan,
P. Morrison,
Gillian Rea,
F. Stewart,
T. Cole,
N. Cooper,
Lisa Cooper-Charles,
H. Cox,
L. Islam,
J. Jarvis,
Rebecca Keelagher,
D. Lim,
D. McMullan,
J. Morton,
S. Naik,
M. O'Driscoll,
K. Ong,
D. Osio,
N. Ragge,
Sarah E Turton,
J. Vogt,
Denise Williams,
S. Bodek,
A. Donaldson,
A. Hills,
K. Low,
R. Newbury-Ecob,
A. Norman,
E. Roberts,
I. Scurr,
S. Smithson,
Madeleine J Tooley,
S. Abbs,
R. Armstrong,
C. Dunn,
S. Holden,
Soo-Mi Park,
J. Paterson,
L. Raymond,
E. Reid,
R. Sandford,
I. Simonic,
M. Tischkowitz,
G. Woods,
L. Bradley,
Joanne Comerford,
A. Green,
S. Lynch,
S. McQuaid,
B. Mullaney,
J. Berg,
D. Goudie,
Eleni Mavrak,
Joanne McLean,
C. Mcwilliam,
E. Reavey,
T. Azam,
Elaine M. Cleary,
Andrew Jackson,
W. Lam,
A. Lampe,
D. Moore,
M. Porteous,
E. Baple,
J. Baptista,
C. Brewer,
B. Castle,
E. Kivuva,
M. Owens,
J. Rankin,
C. Shaw-Smith,
C. Turner,
P. Turnpenny,
C. Tysoe,
T. Bradley,
R. Davidson,
C. Gardiner,
S. Joss,
E. Kinning,
C. Longman,
R. McGowan,
V. Murday,
D. Pilz,
E. Tobias,
M. Whiteford,
N. Williams,
A. Barnicoat,
E. Clement,
F. Faravelli,
J. Hurst,
L. Jenkins,
W. Jones,
V. K. A. Kumar,
M. Lees,
S. Loughlin,
Alison M. Male,
D. Morrogh,
E. Rosser,
R. Scott,
L. Wilson,
A. Beleza,
C. Deshpande,
F. Flinter,
M. Holder,
M. Irving,
L. Izatt,
D. Josifova,
S. Mohammed,
Aneta Molenda,
L. Robert,
W. Roworth,
D. Ruddy,
Mina Ryten,
S. Yau,
C. Bennett,
Moira Blyth,
Jennifer Campbell,
A. Coates,
A. Dobbie,
S. Hewitt,
E. Hobson,
Eilidh Jackson,
Rosalyn Jewell,
A. Kraus,
K. Prescott,
Eamonn Sheridan,
J. Thomson,
Kirsty Bradshaw,
A. Dixit,
J. Eason,
R. Haines,
R. Harrison,
Stacey Mutch,
A. Sarkar,
C. Searle,
N. Shannon,
A. Sharif,
M. Suri,
P. Vasudevan,
N. Canham,
I. Ellis,
L. Greenhalgh,
Emma Howard,
V. Stinton,
Andrew Swale,
A. Weber,
S. Banka,
Catherine Breen,
T. Briggs,
E. Burkitt-Wright,
K. Chandler,
J. Clayton-Smith,
D. Donnai,
S. Douzgou,
L. Gaunt,
E. Jones,
B. Kerr,
Claire Langley,
K. Metcalfe,
Audrey Smith,
R. Wright,
D. Bourn,
J. Burn,
R. Fisher,
S. Hellens,
A. Henderson,
T. Montgomery,
M. Splitt,
Volker Straub,
Michael Wright,
S. Zwolinski,
Zoe Allen,
B. Bernhard,
A. Brady,
Claire Brooks,
Louise Busby,
V. Clowes,
N. Ghali,
S. Holder,
Rita Ibitoye,
E. Wakeling,
Edward Blair,
J. Carmichael,
D. Cilliers,
S. Clasper,
Richard J. Gibbons,
U. Kini,
T. Lester,
Andrea M. Nemeth,
J. Poulton,
S. Price,
D. Shears,
H. Stewart,
Andrew Wilkie,
S. Albaba,
Duncan Baker,
M. Balasubramanian,
Diana S. Johnson,
M. Parker,
O. Quarrell,
A. Stewart,
J. Willoughby,
C. Crosby,
F. Elmslie,
T. Homfray,
Huilin Jin,
N. Lahiri,
S. Mansour,
K. Marks,
M. McEntagart,
A. Saggar,
K. Tatton-Brown,
R. Butler,
A. Clarke,
S. Corrin,
A. Fry,
Arveen Kamath,
E. McCann,
H. Mugalaasi,
C. Pottinger,
A. Procter,
J. Sampson,
F. Sansbury,
V. Varghese,
D. Baralle,
A. Callaway,
Emma-Jane Cassidy,
Stacey Daniels,
A. Douglas,
N. Foulds,
D. Hunt,
Mira Kharbanda,
K. Lachlan,
C. Mercer,
L. Side,
I. Temple,
D. Wellesley,
L. Vissers,
J. Juusola,
C. Wright,
H. Brunner,
H. Firth,
D. FitzPatrick,
J. Barrett,
M. Hurles,
C. Gilissen,
K. Retterer
|
8 |
2020 |
8
🐜
|
|
🐜
|
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
22 auth.
Stefan H. Lelieveld,
Margot R. F. Reijnders,
R. Pfundt,
H. Yntema,
E. Kamsteeg,
P. D. de Vries,
B. D. de Vries,
M. Willemsen,
T. Kleefstra,
Katharina Löhner,
...
M. Vreeburg,
S. Stevens,
I. van der Burgt,
E. Bongers,
A. Stegmann,
P. Rump,
T. Rinne,
M. Nelen,
J. Veltman,
L. Vissers,
H. Brunner,
C. Gilissen
|
8 |
2016 |
8
🐜
|
|
🐜
|
High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitis.
10 auth.
G. D. de Jongh,
P. Zeeuwen,
M. Kucháreková,
R. Pfundt,
P. V. D. van der valk,
W. Blokx,
...
A. Doğan,
P. Hiemstra,
P. V. D. van de Kerkhof,
J. Schalkwijk
|
8 |
2005 |
8
🐜
|
|
🐜
|
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
14 auth.
L. Vissers,
K. V. van Nimwegen,
J. Schieving,
E. Kamsteeg,
T. Kleefstra,
H. Yntema,
R. Pfundt,
G. J. van der Wilt,
L. Krabbenborg,
H. Brunner,
...
S. van der Burg,
J. Grutters,
J. Veltman,
M. Willemsen
|
8 |
2017 |
8
🐜
|
|
🐜
|
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
28 auth.
I. Campbell,
Bo Yuan,
C. Robberecht,
R. Pfundt,
P. Szafranski,
M. McEntagart,
S. Nagamani,
A. Erez,
M. Bartnik,
B. Wiśniowiecka-Kowalnik,
K. Plunkett,
A. Pursley,
Sung-Hae L. Kang,
W. Bi,
S. Lalani,
...
C. Bacino,
M. Vast,
K. Marks,
M. Patton,
P. Olofsson,
Ankita Patel,
J. Veltman,
S. Cheung,
C. Shaw,
L. Vissers,
J. Vermeesch,
J. Lupski,
P. Stankiewicz
|
7 |
2014 |
7
🐜
|
|
🐜
|
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
25 auth.
E. Bijlsma,
A. Gijsbers,
J. Schuurs-Hoeijmakers,
A. Haeringen,
D. F. Putte,
B. Anderlid,
J. Lundin,
P. Lapunzina,
L. Jurado,
B. D. Chiaie,
B. Loeys,
B. Menten,
A. Oostra,
H. Verhelst,
David J. Amor,
...
D. Bruno,
A. Essen,
R. Hordijk,
B. Sikkema‐Raddatz,
K. T. Verbruggen,
M. Jongmans,
R. Pfundt,
H. Reeser,
M. Breuning,
C. Ruivenkamp
|
7 |
2009 |
7
🐜
|
|
🐜
|
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
85 auth.
L. Snijders Blok,
E. Madsen,
J. Juusola,
C. Gilissen,
D. Baralle,
Margot R. F. Reijnders,
H. Venselaar,
C. Helsmoortel,
M. Cho,
A. Hoischen,
L. Vissers,
T. Koemans,
W. Wissink-Lindhout,
Evan E. Eichler,
C. Romano,
...
H. Van Esch,
C. Stumpel,
M. Vreeburg,
E. Smeets,
K. Oberndorff,
B. V. van Bon,
M. Shaw,
J. Gécz,
E. Haan,
M. Bienek,
C. Jensen,
B. Loeys,
Anke Van Dijck,
A. M. Innes,
Hilary Racher,
S. Vermeer,
N. Di Donato,
A. Rump,
K. Tatton-Brown,
M. Parker,
A. Henderson,
S. Lynch,
A. Fryer,
A. Ross,
P. Vasudevan,
U. Kini,
R. Newbury-Ecob,
K. Chandler,
Alison M. Male,
Sybe Dijkstra,
J. Schieving,
J. Giltay,
K. V. van Gassen,
J. Schuurs-Hoeijmakers,
P. L. Tan,
Igor Pediaditakis,
S. Haas,
K. Retterer,
P. Reed,
K. Monaghan,
Eden V. Haverfield,
M. Natowicz,
A. Myers,
M. Kruer,
Q. Stein,
K. Strauss,
Karlla W Brigatti,
Katherine Keating,
Barbara K Burton,
Katherine H. Kim,
J. Charrow,
Jennifer Norman,
A. Foster-Barber,
A. Kline,
Amy Kimball,
E. Zackai,
M. Harr,
Joyce Fox,
J. McLaughlin,
K. Lindstrom,
K. Haude,
K. V. van Roozendaal,
H. Brunner,
Wendy K. Chung,
R. Kooy,
R. Pfundt,
V. Kalscheuer,
S. Mehta,
N. Katsanis,
T. Kleefstra
|
7 |
2015 |
7
🐜
|
|
🐜
|
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
28 auth.
C. Bredrup,
S. Saunier,
M. Oud,
T. Fiskerstrand,
A. Hoischen,
D. Brackman,
S. Leh,
Marit Midtbø,
E. Filhol,
C. Bôle-Feysot,
P. Nitschké,
C. Gilissen,
O. Haugen,
J. Sanders,
I. Stolte-Dijkstra,
...
D. Mans,
E. Steenbergen,
B. Hamel,
M. Matignon,
R. Pfundt,
C. Jeanpierre,
H. Boman,
E. Rødahl,
J. Veltman,
P. Knappskog,
N. Knoers,
R. Roepman,
H. Arts
|
7 |
2011 |
7
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|
