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A SWI/SNF related autism syndrome caused by de novo mutations in ADNP
25 auth.
C. Helsmoortel,
A. V. Vulto-van Silfhout,
Bradley P. Coe,
G. Vandeweyer,
Liesbeth Rooms,
J. van den Ende,
J. Schuurs-Hoeijmakers,
Carlo L. Marcelis,
M. Willemsen,
L. Vissers,
H. Yntema,
Madhura Bakshi,
Meredith Wilson,
Kali T. Witherspoon,
H. Malmgren,
...
A. Nordgren,
G. Annéren,
M. Fichera,
P. Bosco,
C. Romano,
B. D. de Vries,
T. Kleefstra,
R. Kooy,
Evan E. Eichler,
N. van der Aa
|
8 |
2014 |
8
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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
|
7 |
2009 |
7
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|
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A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
12 auth.
G. Van Camp,
R. Snoeckx,
N. Hilgert,
J. van den Ende,
H. Fukuoka,
M. Wagatsuma,
...
Hiroaki Suzuki,
R. Smets,
F. Vanhoenacker,
F. Declau,
P. H. Van de Heyning,
S. Usami
|
7 |
2006 |
7
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The genetic basis of DOORS syndrome: an exome-sequencing study
41 auth.
Philippe M. Campeau,
Dalia Kasperavičiūtė,
James T. Lu,
L. Burrage,
Choel Kim,
M. Hori,
B. Powell,
F. Stewart,
T. Félix,
J. van den Ende,
M. Wiśniewska,
H. Kayserili,
P. Rump,
S. Nampoothiri,
S. Aftimos,
...
A. Mey,
L. D. Nair,
M. Begleiter,
I. De Bie,
G. Meenakshi,
Mitzi L. Murray,
G. Repetto,
M. Golabi,
E. Blair,
Alison M. Male,
F. Giuliano,
A. Kariminejad,
W. Newman,
S. Bhaskar,
Jonathan E. Dickerson,
B. Kerr,
S. Banka,
J. Giltay,
D. Wieczorek,
A. Tostevin,
Joanna Wiszniewska,
S. Cheung,
R. Hennekam,
R. Gibbs,
Brendan H. Lee,
S. Sisodiya
|
7 |
2014 |
7
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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
103 auth.
Anke Van Dijck,
A. V. Vulto-van Silfhout,
E. Cappuyns,
Ilse M. van der Werf,
G. M. Mancini,
A. Tzschach,
R. Bernier,
I. Gozes,
Evan E. Eichler,
C. Romano,
A. Lindstrand,
A. Nordgren,
M. Kvarnung,
T. Kleefstra,
B. D. de Vries,
...
S. Küry,
Jill A. Rosenfeld,
M. Meuwissen,
G. Vandeweyer,
R. Kooy,
Madhura Bakshi,
Meredith Wilson,
Yemina Berman,
Rebecca Dickson,
E. Fransen,
C. Helsmoortel,
J. van den Ende,
N. van der Aa,
Marina J. van de Wijdeven,
J. Rosenblum,
F. Monteiro,
F. Kok,
N. Quercia,
S. Bowdin,
D. Dyment,
D. Chitayat,
Ebba Alkhunaizi,
S. E. Boonen,
B. Keren,
A. Jacquette,
L. Faivre,
S. Bézieau,
B. Isidor,
A. Riess,
U. Moog,
S. Lynch,
T. McVeigh,
O. Elpeleg,
Marie F. Smeland,
M. Fannemel,
A. van Haeringen,
Saskia M. Maas,
H. Veenstra-Knol,
M. Schouten,
M. Willemsen,
Carlo L. Marcelis,
C. Ockeloen,
I. van der Burgt,
I. Feenstra,
J. van der Smagt,
A. Jezela-Stanek,
M. Krajewska-Walasek,
D. González-Lamuño,
B. Anderlid,
H. Malmgren,
M. Nordenskjöld,
E. Clement,
J. Hurst,
K. Metcalfe,
S. Mansour,
K. Lachlan,
J. Clayton-Smith,
L. Hendon,
Omar Abdulrahman,
E. Morrow,
Clare McMillan,
J. Gerdts,
J. Peeden,
Samantha A Schrier Vergano,
Caitlin Valentino,
Wendy K. Chung,
J. Ozmore,
S. Bedrosian-Sermone,
Anna Dennis,
Kayla Treat,
S. S. Hughes,
N. Safina,
J. Le Pichon,
Marianne Mcguire,
Elena Infante,
Suneeta Madan‐Khetarpal,
Sonal J. Desai,
P. Benke,
Alyson Krokosky,
Ingrid Cristian,
L. Baker,
K. Gripp,
H. Stessman,
Jacob A Eichenberger,
P. Jayakar,
A. Pizzino,
Melanie A. Manning,
L. Slattery
|
6 |
2019 |
6
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|
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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation‐dependent probe amplification (MLPA)
9 auth.
Liesbeth Rooms,
E. Reyniers,
R. Luijk,
Stefaan Scheers,
J. Wauters,
B. Ceulemans,
...
J. van den Ende,
Y. van Bever,
R. Kooy
|
6 |
2004 |
6
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|
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Etiologic and Audiologic Evaluations After Universal Neonatal Hearing Screening: Analysis of 170 Referred Neonates
F. Declau,
A. Boudewyns,
J. van den Ende,
A. Peeters,
P. van den Heyning
|
6 |
2008 |
6
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|
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Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature
38 auth.
E. Cottereau,
Isabelle Mortemousque,
M. Moizard,
L. Bürglen,
D. Lacombe,
B. Gilbert-Dussardier,
S. Sigaudy,
O. Boute,
A. David,
L. Faivre,
J. Amiel,
Robert Robertson,
Fabiana Viana Ramos,
E. Bieth,
S. Odent,
...
B. Demeer,
M. Mathieu,
D. Gaillard,
L. Van Maldergem,
G. Baujat,
I. Maystadt,
D. Heron,
A. Verloes,
N. Philip,
V. Cormier-Daire,
M. Froute,
L. Pinson,
P. Blanchet,
P. Sarda,
M. Willems,
Adeline Jacquinet,
I. Ratbi,
J. van den Ende,
Marylin Lackmy-Port Lis,
A. Goldenberg,
D. Bonneau,
S. Rossignol,
A. Toutain
|
6 |
2013 |
6
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|
|
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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
108 auth.
Magdalena Koczkowska,
T. Callens,
Yunjia Chen,
A. Gomes,
Alesha D. Hicks,
A. Sharp,
Eric Johns,
K. Uhas,
L. Armstrong,
K. Bosanko,
D. Babovic‐Vuksanovic,
L. Baker,
Donald G Basel,
Mario Bengala,
James T. Bennett,
...
Chelsea Chambers,
L. Clarkson,
M. Clementi,
F. Cortés,
Mitch Cunningham,
M. D’Agostino,
M. Delatycki,
M. C. Digilio,
L. Dosa,
S. Esposito,
S. Fox,
M. Freckmann,
C. Fauth,
T. Giugliano,
S. Giustini,
Allison L Goetsch,
Y. Goldberg,
Robert S. Greenwood,
Cristin Griffis,
K. Gripp,
Punita Gupta,
E. Haan,
R. Hachen,
Tamara L. Haygarth,
C. Hernández‐Chico,
Katelyn Hodge,
R. Hopkin,
L. Hudgins,
S. Janssens,
Kory Keller,
Geraldine Kelly‐Mancuso,
Aaina Kochhar,
B. Korf,
Andrea M. Lewis,
J. Liebelt,
A. Lichty,
R. Listernick,
M.J. Lyons,
I. Maystadt,
Mayra Martinez Ojeda,
C. Mcdougall,
Lesley Mcgregor,
D. Melis,
N. Mendelsohn,
Małgorzata J. M. Nowaczyk,
J. Ortenberg,
K. Panzer,
J. Pappas,
M. Pierpont,
G. Piluso,
V. Pinna,
E. Pivnick,
Dinel Pond,
C. Powell,
C. Rogers,
Noa Ruhrman Shahar,
S. Rutledge,
V. Saletti,
S. Sandaradura,
C. Santoro,
U. Schatz,
A. Schreiber,
D. Scott,
E. Sellars,
R. Sheffer,
Elizabeth Siqveland,
J. Slopis,
Rosemarie Smith,
A. Spalice,
D. Stockton,
Haley E. Streff,
A. Theos,
G. Tomlinson,
Grace Tran,
Pamela Trapane,
E. Trevisson,
N. Ullrich,
J. van den Ende,
S. S. Schrier Vergano,
S. Wallace,
M. Wangler,
D. Weaver,
K. Yohay,
E. Zackai,
J. Zonana,
V. Zurcher,
K. Claes,
M. Eoli,
Y. Martín,
K. Wimmer,
A. De Luca,
E. Legius,
L. Messiaen
|
6 |
2019 |
6
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|
|
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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
23 auth.
B. D’haene,
F. Meire,
I. Claerhout,
H. Kroes,
A. Plomp,
Y. Arens,
T. de Ravel,
I. Casteels,
S. De Jaegere,
S. Hooghe,
...
W. Wuyts,
J. van den Ende,
F. Roulez,
H. Veenstra-Knol,
R. Oldenburg,
J. Giltay,
J. Verheij,
J. D. de Faber,
B. Menten,
A. De Paepe,
P. Kestelyn,
B. Leroy,
E. de Baere
|
6 |
2011 |
6
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