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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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|
|
🐜
|
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
14 auth.
O. Semler,
L. Garbes,
Katharina Keupp,
Daniel Swan,
Katharina Zimmermann,
J. Becker,
S. Iden,
B. Wirth,
P. Eysel,
F. Koerber,
...
E. Schoenau,
S. Bohlander,
B. Wollnik,
C. Netzer
|
7 |
2012 |
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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|
Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
45 auth.
J. Hauke,
J. Horváth,
E. Gross,
A. Gehrig,
E. Honisch,
K. Hackmann,
Gunnar Schmidt,
N. Arnold,
U. Faust,
C. Sutter,
J. Hentschel,
S. Wang-gohrke,
Mateja Smogavec,
B. Weber,
N. Weber-Lassalle,
...
K. Weber-Lassalle,
J. Borde,
C. Ernst,
J. Altmüller,
A. Volk,
H. Thiele,
V. Hübbel,
P. Nürnberg,
Katharina Keupp,
B. Versmold,
E. Pohl,
C. Kubisch,
S. Grill,
Victoria Paul,
N. Herold,
Nadine Lichey,
K. Rhiem,
N. Ditsch,
C. Ruckert,
B. Wappenschmidt,
B. Auber,
A. Rump,
D. Niederacher,
T. Haaf,
J. Ramser,
B. Dworniczak,
C. Engel,
A. Meindl,
R. Schmutzler,
E. Hahnen
|
7 |
2018 |
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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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
38 auth.
N. Bögershausen,
Nassim Shahrzad,
Jessica X. Chong,
J. Kleist-Retzow,
Daniela Stanga,
Yun Li,
F. Bernier,
F. Bernier,
Catrina M. Loucks,
Radu Wirth,
E. Puffenberger,
R. Hegele,
J. Schreml,
G. Lapointe,
Katharina Keupp,
...
C. Brett,
Rebecca L. Anderson,
A. Hahn,
A. Innes,
A. Innes,
O. Suchowersky,
M. Mets,
G. Nürnberg,
D. R. Mcleod,
H. Thiele,
D. Waggoner,
J. Altmüller,
K. Boycott,
B. Schoser,
P. Nürnberg,
C. Ober,
R. Heller,
J. Parboosingh,
J. Parboosingh,
B. Wollnik,
M. Sacher,
M. Sacher,
R. Lamont
|
6 |
2013 |
6
🐜
|
|
🐜
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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
28 auth.
N. Bögershausen,
I‐Chun Tsai,
E. Pohl,
P. Kiper,
Filippo Beleggia,
E. Percin,
Katharina Keupp,
Angela Matchan,
Esther Milz,
Y. Alanay,
H. Kayserili,
Yicheng Liu,
S. Banka,
A. Kranz,
M. Zenker,
...
D. Wieczorek,
N. Elcioglu,
P. Prontera,
S. Lyonnet,
T. Meitinger,
A. F. Stewart,
D. Donnai,
T. Strom,
K. Boduroğlu,
G. Yigit,
Yun Li,
N. Katsanis,
B. Wollnik
|
6 |
2015 |
6
🐜
|
|
🦁
|
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis
27 auth.
Katharina Keupp,
Yun Li,
I. Vargel,
A. Hoischen,
R. Richardson,
K. Neveling,
Y. Alanay,
E. Uz,
N. Elcioglu,
Martin Rachwalski,
S. Kamaci,
G. Tunçbilek,
B. Akin,
J. Grötzinger,
E. Konaş,
...
E. Mavili,
G. Müller-Newen,
H. Collmann,
T. Roscioli,
M. Buckley,
G. Yigit,
C. Gilissen,
W. Kress,
J. Veltman,
M. Hammerschmidt,
N. Akarsu,
B. Wollnik
|
6 |
2013 |
6
🦁
|
|
🐜
|
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
13 auth.
J. Schreml,
B. Durmaz,
O. Cogulu,
Katharina Keupp,
Filippo Beleggia,
E. Pohl,
Esther Milz,
M. Çoker,
S. K. Uçar,
G. Nürnberg,
...
P. Nürnberg,
J. Kuhn,
F. Ozkinay
|
5 |
2013 |
5
🐜
|
|
🐜
|
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
11 auth.
E. Pohl,
A. Aykut,
Filippo Beleggia,
E. Karaca,
B. Durmaz,
Katharina Keupp,
...
E. Arslan,
M. Onay,
G. Yigit,
F. Özkınay,
B. Wollnik
|
5 |
2013 |
5
🐜
|
