|
🐜
|
In vitro fertilization with preimplantation genetic screening.
14 auth.
S. Mastenbroek,
M. Twisk,
J. Van Echten-Arends,
B. Sikkema‐Raddatz,
J. Korevaar,
H. Verhoeve,
N. Vogel,
E. G. Arts,
J. D. de Vries,
P. Bossuyt,
...
C. Buys,
M. Heineman,
S. Repping,
F. van der Veen
|
9 |
2007 |
9
🐜
|
|
🦁
|
Targeted Next‐Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
11 auth.
B. Sikkema‐Raddatz,
L. Johansson,
E. N. Boer,
R. Almomani,
L. Boven,
M. Berg,
...
K. Spaendonck‐Zwarts,
J. Tintelen,
R. Sijmons,
J. Jongbloed,
R. Sinke
|
8 |
2013 |
8
🦁
|
|
🐜
|
TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
40 auth.
K. V. D. van der Meij,
E. Sistermans,
M. Macville,
S. Stevens,
C. Bax,
M. Bekker,
C. Bilardo,
E. Boon,
M. Boter,
K. Diderich,
Christine E. M. de Die-Smulders,
L. Duin,
Brigitte H. W. Faas,
I. Feenstra,
M. C. Haak,
...
M. Hoffer,
N. D. den Hollander,
Iris H. I. M. Hollink,
F. Jehee,
M. Knapen,
A. Kooper,
I. V. van Langen,
K. Lichtenbelt,
I. Linskens,
M. V. van Maarle,
D. Oepkes,
M. Pieters,
G. H. Schuring-Blom,
E. Sikkel,
B. Sikkema‐Raddatz,
Dominique Smeets,
M. Srebniak,
R. F. Suijkerbuijk,
Gita Tan-Sindhunata,
A. van der Ven,
S. V. van Zelderen-Bhola,
L. Henneman,
R. Galjaard,
D. Van Opstal,
M. Weiss
|
8 |
2019 |
8
🐜
|
|
🐜
|
Chromosomal mosaicism in human preimplantation embryos: a systematic review.
7 auth.
J. Van Echten-Arends,
S. Mastenbroek,
B. Sikkema‐Raddatz,
J. Korevaar,
M. Heineman,
F. van der Veen,
...
S. Repping
|
8 |
2011 |
8
🐜
|
|
🐜
|
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping
39 auth.
P. D. Vree,
E. D. Wit,
M. Yilmaz,
M. V. D. Heijning,
P. Klous,
M. Verstegen,
Y. Wan,
Hans Teunissen,
Peter H. L. Krijger,
G. Geeven,
P. Eijk,
D. Sie,
B. Ylstra,
L. Hulsman,
M. F. Dooren,
...
L. Zutven,
A. Ouweland,
S. Verbeek,
K. V. Dijk,
M. Cornelissen,
A. Das,
B. Berkhout,
B. Sikkema‐Raddatz,
E. Berg,
P. Vlies,
Desirée Weening,
J. T. Dunnen,
M. Matusiak,
M. Lamkanfi,
M. Ligtenberg,
P. T. Brugge,
J. Jonkers,
J. Foekens,
J. Martens,
R. B. Luijt,
H. C. P. Amstel,
M. V. Min,
E. Splinter,
W. D. Laat
|
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
🐜
|
|
🐜
|
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.
10 auth.
R. Hochstenbach,
E. van Binsbergen,
J. Engelen,
A. Nieuwint,
A. Polstra,
P. Poddighe,
...
C. Ruivenkamp,
B. Sikkema‐Raddatz,
D. Smeets,
M. Poot
|
7 |
2009 |
7
🐜
|
|
🐜
|
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension
15 auth.
W. S. Kerstjens-Frederikse,
E. Bongers,
M. Roofthooft,
E. Leter,
J. Douwes,
A. Dijk,
A. Vonk-Noordegraaf,
K. Dijk-Bos,
L. Hoefsloot,
E. Hoendermis,
...
J. Gille,
B. Sikkema‐Raddatz,
R. Hofstra,
R. Berger,
Dr Wilhelmina S Kerstjens-Frederikse
|
7 |
2013 |
7
🐜
|
|
🐜
|
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
15 auth.
M. Doornbos,
B. Sikkema‐Raddatz,
Claudia A.L. Ruijvenkamp,
T. Dijkhuizen,
E. Bijlsma,
A. Gijsbers,
Y. Hilhorst-Hofstee,
R. Hordijk,
K. T. Verbruggen,
W. S. Kerstjens-Frederikse,
...
Ton van Essen,
K. Kok,
Anneke van Silfhout,
M. Breuning,
C. V. van Ravenswaaij-Arts
|
7 |
2009 |
7
🐜
|
|
🐜
|
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
27 auth.
Patrick Deelen,
Sipko van Dam,
J. Herkert,
J. Karjalainen,
H. Brugge,
K. Abbott,
C. V. van Diemen,
P. A. van der Zwaag,
E. Gerkes,
E. Zonneveld-Huijssoon,
Jelkje J Boer-Bergsma,
Pytrik Folkertsma,
Tessa E. Gillett,
K. J. van der Velde,
Roan Kanninga,
...
P. C. van den Akker,
S. Jan,
E. T. Hoorntje,
W. P. te Rijdt,
Y. Vos,
J. Jongbloed,
C. V. van Ravenswaaij-Arts,
R. Sinke,
B. Sikkema‐Raddatz,
W. S. Kerstjens-Frederikse,
M. Swertz,
L. Franke
|
6 |
2019 |
6
🐜
|
|
🐜
|
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
12 auth.
M. Willemsen,
B. Fernandez,
C. Bacino,
E. Gerkes,
A. Brouwer,
R. Pfundt,
...
B. Sikkema‐Raddatz,
S. Scherer,
C. Marshall,
L. Potocki,
H. Bokhoven,
T. Kleefstra
|
6 |
2010 |
6
🐜
|
