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Mutations in WNT1 cause different forms of bone fragility.
36 auth.
Katharina Keupp,
Filippo Beleggia,
H. Kayserili,
Aileen M Barnes,
Magdalena Steiner,
O. Semler,
B. Fischer,
G. Yigit,
C. Y. Janda,
J. Becker,
S. Breer,
U. Altunoğlu,
Johannes Grünhagen,
P. Krawitz,
J. Hecht,
...
T. Schinke,
E. Makareeva,
E. Lausch,
T. Çankaya,
J. Caparrós‐Martín,
P. Lapunzina,
S. Temtamy,
M. Aglan,
B. Zabel,
P. Eysel,
F. Koerber,
S. Leikin,
K. Garcia,
C. Netzer,
E. Schönau,
V. Ruiz-Perez,
S. Mundlos,
M. Amling,
U. Kornak,
J. Marini,
B. Wollnik
|
7 |
2013 |
7
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CEP152 is a genome maintenance protein disrupted in Seckel syndrome
32 auth.
E. Kalay,
G. Yigit,
Y. Aslan,
K. Brown,
E. Pohl,
L. Bicknell,
H. Kayserili,
Yun Li,
B. Tüysüz,
G. Nürnberg,
W. Kiess,
M. Koegl,
Ingelore Baessmann,
K. Buruk,
B. Toraman,
...
S. Kayıpmaz,
S. Kul,
M. Ikbal,
D. Turner,
Martin S. Taylor,
J. Aerts,
C. Scott,
Karen Milstein,
H. Dollfus,
D. Wieczorek,
H. Brunner,
M. Hurles,
A. Jackson,
A. Rauch,
P. Nürnberg,
A. Karagüzel,
B. Wollnik
|
7 |
2011 |
7
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Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
22 auth.
P. Asharani,
Katharina Keupp,
O. Semler,
Wenshen Wang,
Yun Li,
H. Thiele,
G. Yigit,
E. Pohl,
J. Becker,
P. Frommolt,
...
C. Sonntag,
J. Altmüller,
Katharina Zimmermann,
D. Greenspan,
N. Akarsu,
C. Netzer,
E. Schönau,
Radu Wirth,
M. Hammerschmidt,
P. Nürnberg,
B. Wollnik,
T. Carney
|
7 |
2012 |
7
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|
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LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
26 auth.
Yun Li,
B. Pawlik,
N. Elcioglu,
M. Aglan,
H. Kayserili,
G. Yigit,
F. Percin,
F. Goodman,
G. Nürnberg,
A. Cenani,,
J. Urquhart,
B. Chung,
S. Ismail,
K. Amr,
A. Aslanger,
...
C. Becker,
C. Netzer,
P. Scambler,
W. Eyaid,
H. Hamamy,
J. Clayton-Smith,
R. Hennekam,
P. Nürnberg,
J. Herz,
S. Temtamy,
B. Wollnik
|
7 |
2010 |
7
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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2
41 auth.
N. Bögershausen,
V. Gatinois,
V. Riehmer,
H. Kayserili,
J. Becker,
M. Thoenes,
P. Simsek-Kiper,
M. Barat‐Houari,
N. Elcioglu,
D. Wieczorek,
S. Tinschert,
G. Sarrabay,
T. Strom,
A. Fabre,
G. Baynam,
...
E. Sanchez,
G. Nürnberg,
U. Altunoğlu,
Y. Capri,
B. Isidor,
D. Lacombe,
Carole Corsini,
V. Cormier-Daire,
D. Sanlaville,
F. Giuliano,
K. Le Quan Sang,
H. Kayirangwa,
P. Nürnberg,
T. Meitinger,
K. Boduroğlu,
B. Zoll,
S. Lyonnet,
A. Tzschach,
A. Verloes,
N. Di Donato,
I. Touitou,
C. Netzer,
Yun Li,
D. Geneviève,
G. Yigit,
B. Wollnik
|
7 |
2016 |
7
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|
|
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Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
33 auth.
K. Laghmani,
B. Beck,
S. Yang,
Elie Seaayfan,
Andrea Wenzel,
Björn Reusch,
H. Vitzthum,
D. Priem,
Sylvie Demaretz,
K. Bergmann,
L. Duin,
H. Göbel,
C. Mache,
H. Thiele,
Malte P. Bartram,
...
Carlos Dombret,
J. Altmüller,
P. Nürnberg,
T. Benzing,
E. Levtchenko,
H. Seyberth,
G. Klaus,
G. Yigit,
Shih-Hua Lin,
A. Timmer,
T. D. de Koning,
S. Scherjon,
K. Schlingmann,
M. Bertrand,
Markus M. Rinschen,
O. de Backer,
M. Konrad,
M. Kömhoff
|
7 |
2016 |
7
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|
|
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|
A mutation screen in patients with Kabuki syndrome
23 auth.
Yun Li,
N. Bögershausen,
Y. Alanay,
P. Ö. Şimşek Kiper,
Nadine Plume,
Katharina Keupp,
E. Pohl,
B. Pawlik,
Martin Rachwalski,
Esther Milz,
...
M. Thoenes,
B. Albrecht,
E. Prott,
Margret Lehmkühler,
S. Demuth,
G. Utine,
K. Boduroğlu,
K. Frankenbusch,
G. Borck,
G. Gillessen‐Kaesbach,
G. Yigit,
D. Wieczorek,
B. Wollnik
|
6 |
2011 |
6
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|
|
🐜
|
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
21 auth.
M. Hussain,
S. Baig,
Sascha Neumann,
V. Peche,
Sandra Szczepanski,
G. Nürnberg,
M. Tariq,
M. Jameel,
T. Khan,
A. Fatima,
...
N. A. Malik,
Ilyas Ahmad,
J. Altmüller,
P. Frommolt,
H. Thiele,
W. Höhne,
G. Yigit,
B. Wollnik,
B. Neubauer,
P. Nürnberg,
A. Noegel
|
6 |
2013 |
6
🐜
|
|
🐜
|
ALX4 dysfunction disrupts craniofacial and epidermal development.
17 auth.
H. Kayserili,
E. Uz,
C. Niessen,
I. Vargel,
Y. Alanay,
G. Tunçbilek,
G. Yigit,
O. Uyguner,
S. Candan,
H. Okur,
...
Serkan Kaygin,
S. Balcı,
E. Mavili,
M. Alikaşifoğlu,
I. Haase,
B. Wollnik,
N. Akarsu
|
6 |
2009 |
6
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|
|
🐜
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
66 auth.
C. T. Gordon,
C. T. Gordon,
Shifeng Xue,
G. Yigit,
Hicham Filali,
Hicham Filali,
Hicham Filali,
Kelan Chen,
Kelan Chen,
N. Rosin,
K. Yoshiura,
M. Oufadem,
M. Oufadem,
Tamara Beck,
R. McGowan,
...
A. Magee,
J. Altmüller,
Camille Dion,
H. Thiele,
Alexandra D. Gurzau,
Alexandra D. Gurzau,
P. Nürnberg,
D. Meschede,
W. Mühlbauer,
N. Okamoto,
V. Varghese,
Rachel Irving,
S. Sigaudy,
Denise Williams,
S. Ahmed,
C. Bonnard,
M. K. Kong,
I. Ratbi,
N. Fejjal,
M. Fikri,
S. Elalaoui,
H. Reigstad,
C. Bôle-Feysot,
C. Bôle-Feysot,
P. Nitschké,
P. Nitschké,
N. Ragge,
N. Lévy,
G. Tunçbilek,
Audrey S. M. Teo,
M. Cunningham,
A. Sefiani,
H. Kayserili,
James M. Murphy,
James M. Murphy,
C. Chatdokmaiprai,
A. Hillmer,
D. Wattanasirichaigoon,
S. Lyonnet,
S. Lyonnet,
S. Lyonnet,
F. Magdinier,
Asif Javed,
M. Blewitt,
M. Blewitt,
J. Amiel,
J. Amiel,
J. Amiel,
Bernd Wollnik,
Bernd Wollnik,
B. Reversade
|
6 |
2017 |
6
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|
