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🐜
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
39 auth.
A. Rauch,
D. Wieczorek,
E. Graf,
T. Wieland,
S. Endele,
T. Schwarzmayr,
B. Albrecht,
D. Bartholdi,
J. Beygo,
N. Donato,
A. Dufke,
K. Cremer,
M. Hempel,
D. Horn,
Juliane Hoyer,
...
P. Joset,
A. Röpke,
U. Moog,
A. Riess,
C. Thiel,
A. Tzschach,
Antje Wiesener,
E. Wohlleber,
C. Zweier,
A. Ekici,
A. Zink,
A. Rump,
C. Meisinger,
H. Grallert,
H. Sticht,
A. Schenck,
H. Engels,
G. Rappold,
E. Schröck,
P. Wieacker,
O. Riess,
T. Meitinger,
A. Reis,
T. Strom
|
9 |
2012 |
9
🐜
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|
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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
13 auth.
A. Rauch,
Juliane Hoyer,
S. Guth,
C. Zweier,
C. Kraus,
C. Becker,
M. Zenker,
U. Hüffmeier,
C. Thiel,
F. Rüschendorf,
...
P. Nürnberg,
A. Reis,
U. Trautmann
|
8 |
2006 |
8
🐜
|
|
🐜
|
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
30 auth.
A. Rauch,
C. Thiel,
D. Schindler,
U. Wick,
Y. Crow,
A. Ekici,
A. V. van Essen,
T. Goecke,
L. Al-Gazali,
K. Chrzanowska,
C. Zweier,
H. Brunner,
K. Becker,
C. Curry,
B. Dallapiccola,
...
K. Devriendt,
A. Dörfler,
E. Kinning,
A. Mégarbané,
P. Meinecke,
R. Semple,
S. Spranger,
A. Toutain,
R. Trembath,
Egbert Voss,
L. Wilson,
R. Hennekam,
F. de Zegher,
H. Dörr,
A. Reis
|
8 |
2008 |
8
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|
|
🐜
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Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
26 auth.
M. Zenker,
J. Mayerle,
M. Lerch,
A. Tagariello,
K. Zerres,
P. Durie,
Matthias Beier,
G. Hülskamp,
Celina Guzmán,
H. Rehder,
F. Beemer,
B. Hamel,
P. Vanlieferinghen,
R. Gershoni-baruch,
Marta W. Vieira,
...
M. Dumić,
R. Auslender,
V. L. Gil-da-Silva-Lopes,
S. Steinlicht,
M. Rauh,
S. Shalev,
C. Thiel,
A. Winterpacht,
Y. Kwon,
A. Varshavsky,
A. Reis
|
8 |
2005 |
8
🐜
|
|
🐜
|
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
79 auth.
G. Wheway,
M. Schmidts,
D. Mans,
K. Szymanska,
Thanh-Minh T. Nguyen,
Hilary Racher,
Ian G. Phelps,
G. Toedt,
Julie E. Kennedy,
K. Wunderlich,
N. Sorusch,
Z. Abdelhamed,
S. Natarajan,
W. Herridge,
J. V. Reeuwijk,
...
N. Horn,
K. Boldt,
D. Parry,
S. Letteboer,
S. Roosing,
M. Adams,
S. Bell,
J. Bond,
J. Higgins,
E. Morrison,
D. Tomlinson,
G. Slaats,
Teunis J. P. van Dam,
Lijia Huang,
K. Kessler,
A. Giessl,
C. Logan,
E. Boyle,
J. Shendure,
S. Anazi,
Mohammed A. Aldahmesh,
S. Hazzaa,
R. Hegele,
C. Ober,
P. Frosk,
A. Mhanni,
B. Chodirker,
A. Chudley,
R. Lamont,
F. Bernier,
C. Beaulieu,
P. Gordon,
R. Pon,
Clement Donahue,
A. Barkovich,
Louis Wolf,
C. Toomes,
C. Thiel,
K. Boycott,
M. Mckibbin,
C. Inglehearn,
F. Stewart,
H. Omran,
M. Huynen,
P. Sergouniotis,
P. Sergouniotis,
F. Alkuraya,
J. Parboosingh,
A. Innes,
C. Willoughby,
R. Giles,
A. Webster,
Andrew R Webster,
M. Ueffing,
M. Ueffing,
O. Blacque,
J. Gleeson,
U. Wolfrum,
P. Beales,
T. Gibson,
D. Doherty,
H. Mitchison,
R. Roepman,
Colin A. Johnson
|
7 |
2015 |
7
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|
|
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|
Congenital disorders of glycosylation (CDG): Quo vadis?
12 auth.
Romain Péanne,
P. de Lonlay,
F. Foulquier,
U. Kornak,
D. Lefeber,
E. Morava,
...
B. Perez,
N. Seta,
C. Thiel,
E. Van Schaftingen,
G. Matthijs,
J. Jaeken
|
7 |
2017 |
7
🐜
|
|
🐜
|
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
29 auth.
M. Reuter,
Hasan Tawamie,
R. Buchert,
Ola Hosny Gebril,
Tawfiq Froukh,
C. Thiel,
S. Uebe,
A. Ekici,
M. Krumbiegel,
C. Zweier,
Juliane Hoyer,
Karolin Eberlein,
J. Bauer,
Ute Scheller,
T. Strom,
...
S. Hoffjan,
E. Abdelraouf,
N. Meguid,
Ahmad Abboud,
M. A. Al Khateeb,
Mahmoud Fakher,
Saber Hamdan,
Amina Ismael,
S. Muhammad,
E. Abdallah,
H. Sticht,
D. Wieczorek,
A. Reis,
R. Abou Jamra
|
7 |
2017 |
7
🐜
|
|
🦁
|
NEK1 mutations cause short-rib polydactyly syndrome type majewski.
18 auth.
C. Thiel,
K. Kessler,
A. Giessl,
A. Dimmler,
S. Shalev,
S. von der Haar,
M. Zenker,
Diana Zahnleiter,
H. Stöss,
E. Beinder,
...
R. Abou Jamra,
A. Ekici,
Nadja Schröder-Kress,
T. Aigner,
T. Kirchner,
A. Reis,
J. Brandstätter,
A. Rauch
|
7 |
2011 |
7
🦁
|
|
🐜
|
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
19 auth.
S. Timal,
A. Hoischen,
L. Lehle,
M. Adamowicz,
Karin Huijben,
J. Sykut-Cegielska,
J. Paprocka,
E. Jamroz,
F. V. van Spronsen,
C. Körner,
...
C. Gilissen,
R. Rodenburg,
Ilse Eidhof,
L. P. Van den Heuvel,
C. Thiel,
R. Wevers,
E. Morava,
J. Veltman,
D. Lefeber
|
7 |
2012 |
7
🐜
|
|
🦁
|
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
14 auth.
C. Thiel,
D. Horn,
B. Zabel,
A. Ekici,
Kelly Salinas,
E. Gebhart,
F. Rüschendorf,
H. Sticht,
J. Spranger,
D. Müller,
...
C. Zweier,
M. Schmitt,
A. Reis,
A. Rauch
|
7 |
2005 |
7
🦁
|
|
🐜
|
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
11 auth.
Bengt Hansske,
C. Thiel,
T. Lübke,
M. Hasilik,
S. Höning,
V. Peters,
...
P. Heidemann,
G. Hoffmann,
E. Berger,
K. von Figura,
C. Körner
|
7 |
2002 |
7
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|
