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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
20 auth.
B. Menten,
N. Maas,
B. Thienpont,
K. Buysse,
J. Vandesompele,
C. Melotte,
T. Ravel,
S. V. Vooren,
I. Balikova,
L. Backx,
...
Sophie Janssens,
A. D. Paepe,
B. D. Moor,
Y. Moreau,
P. Marynen,
J. Fryns,
G. Mortier,
K. Devriendt,
F. Speleman,
J. Vermeesch
|
8 |
2006 |
8
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🐜
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Positional cloning of the Fanconi anaemia group A gene
35 auth.
S. Apostolou,
S. Whitmore,
J. Crawford,
G. Lennon,
G. Sutherland,
D. Callen,
Leonarda lanzano,
M. Savino,
M. d’Apolito,
Angelo Notarangeio,
E. Memeo,
M. R. Piemontese,
L. Zelante,
A. Savoia,
R. Gibson,
...
A. Tipping,
N. Morgan,
S. Hassock,
S. Jansen,
T. Ravel,
Carola Van Berkell,
J. Pronk,
D. Easton,
C. Mathew,
O. Levran,
P. Verlander,
S. Batish,
Tamar Erlich,
A. Auerbach,
A. Cleton-Jansen,
E. Moerland,
C. Cornelisse,
N. Doggett,
L. Deaven,
R. Moyzis
|
8 |
1996 |
8
🐜
|
|
🐜
|
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
35 auth.
C. Stoetzel,
V. Laurier,
E. Davis,
J. Muller,
S. Rix,
José L. Badano,
C. C. Leitch,
N. Salem,
E. Chouery,
S. Corbani,
Nadine Jalk,
S. Vicaire,
P. Sarda,
C. Hamel,
D. Lacombe,
...
M. Holder,
S. Odent,
S. Holder,
A. Brooks,
N. Elcioglu,
Eduardo D Silva,
B. Rossillion,
S. Sigaudy,
T. Ravel,
R. Lewis,
B. Leheup,
A. Verloes,
P. Amati‐Bonneau,
A. Mégarbané,
O. Poch,
D. Bonneau,
P. Beales,
J. Mandel,
N. Katsanis,
H. Dollfus
|
8 |
2006 |
8
🐜
|
|
🐜
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
55 auth.
B. V. Bon,
H. Mefford,
B. Menten,
D. Koolen,
A. Sharp,
W. Nillesen,
J. Innis,
T. Ravel,
C. Mercer,
M. Fichera,
H. Stewart,
L. Connell,
K. Õunap,
K. Lachlan,
B. Castle,
...
N. Aa,
C. V. Ravenswaaij,
Marcelo Araujo da Nóbrega,
C. Serra‐Juhé,
I. Simonic,
N. Leeuw,
R. Pfundt,
E. Bongers,
Carl A. Baker,
P. Finnemore,
S. Huang,
V. Maloney,
J. Crolla,
M. V. Kalmthout,
M. Elia,
G. Vandeweyer,
J. Fryns,
S. Janssens,
N. Foulds,
S. Reitano,
K. Smith,
S. Parkel,
B. Loeys,
C. Woods,
A. Oostra,
F. Speleman,
A. C. Pereira,
A. Kurg,
L. Willatt,
S. Knight,
J. Vermeesch,
C. Romano,
J. Barber,
G. Mortier,
L. Pérez-Jurado,
F. Kooy,
H. Brunner,
E. Eichler,
T. Kleefstra,
B. D. Vries
|
8 |
2009 |
8
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|
|
🐜
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Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin
8 auth.
A. Gerche,
C. Robberecht,
Cuno Kuiperi,
D. Nuyens,
R. Willems,
T. Ravel,
...
G. Matthijs,
H. Heidbuchel
|
7 |
2010 |
7
🐜
|
|
🐜
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Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
16 auth.
Baran Bayindir,
L. Dehaspe,
N. Brison,
P. Brady,
S. Ardui,
M. Kammoun,
L. V. D. Veken,
K. Lichtenbelt,
K. Bogaert,
J. Houdt,
...
H. Peeters,
H. Esch,
T. Ravel,
E. Legius,
K. Devriendt,
J. Vermeesch
|
6 |
2015 |
6
🐜
|
|
🐜
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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
26 auth.
L. Bicknell,
C. Farrington‐Rock,
Y. Shafeghati,
P. Rump,
Y. Alanay,
Y. Alembik,
Navid Al-Madani,
H. Firth,
M. Karimi-Nejad,
C. Kim,
K. Leask,
M. Maisenbacher,
E. Moran,
J. Pappas,
P. Prontera,
...
T. Ravel,
J. Fryns,
E. Sweeney,
A. Fryer,
S. Unger,
L. Wilson,
R. Lachman,
D. Rimoin,
D. Cohn,
D. Krakow,
S. Robertson
|
6 |
2006 |
6
🐜
|
|
🐜
|
Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa
11 auth.
A. Tipping,
T. Pearson,
N. Morgan,
R. Gibson,
L. P. Kuyt,
C. Havenga,
...
E. Gluckman,
H. Joenje,
T. Ravel,
S. Jansen,
C. Mathew
|
6 |
2001 |
6
🐜
|
|
🐜
|
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
11 auth.
G. Buggenhout,
C. Melotte,
B. Dutta,
G. Froyen,
P. Hummelen,
P. Marynen,
...
G. Matthijs,
T. Ravel,
K. Devriendt,
J. Fryns,
J. Vermeesch
|
6 |
2004 |
6
🐜
|
|
🐜
|
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia
12 auth.
I. Kurth,
E. Klopocki,
S. Stricker,
J. G. Oosterwijk,
Sebastian Vanek,
J. Altmann,
...
Heliosa G Santos,
J. J. T. V. Harssel,
T. Ravel,
A. Wilkie,
A. Gal,
S. Mundlos
|
6 |
2009 |
6
🐜
|
|
🐜
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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
23 auth.
N. Brunetti‐Pierri,
N. Brunetti‐Pierri,
A. Paciorkowski,
R. Ciccone,
Erika Della Mina,
M. Bonaglia,
R. Borgatti,
C. Schaaf,
V. Sutton,
Z. Xia,
...
N. Jelluma,
C. Ruivenkamp,
M. Bertrand,
T. Ravel,
P. Jayakar,
S. Belli,
Katia Rocchetti,
C. Pantaleoni,
S. D'Arrigo,
J. Hughes,
S. Cheung,
O. Zuffardi,
P. Stankiewicz
|
6 |
2011 |
6
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