|
🐜
|
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
22 auth.
D. Lupiáñez,
K. Kraft,
V. Heinrich,
P. Krawitz,
F. Brancati,
E. Klopocki,
D. Horn,
H. Kayserili,
John M. Opitz,
R. Laxová,
...
F. Santos-Simarro,
B. Gilbert-Dussardier,
L. Wittler,
Marina Borschiwer,
S. Haas,
M. Osterwalder,
Martin Franke,
B. Timmermann,
J. Hecht,
M. Spielmann,
A. Visel,
S. Mundlos
|
10 |
2015 |
10
🐜
|
|
🐜
|
Identifying facial phenotypes of genetic disorders using deep learning
12 auth.
Yaron Gurovich,
Yair Hanani,
Omri Bar,
Guy Nadav,
N. Fleischer,
D. Gelbman,
...
L. Basel-Salmon,
P. Krawitz,
S. Kamphausen,
M. Zenker,
L. Bird,
K. Gripp
|
9 |
2019 |
9
🐜
|
|
🐜
|
Clinical diagnostics in human genetics with semantic similarity searches in ontologies.
10 auth.
Sebastian Köhler,
Marcel H. Schulz,
P. Krawitz,
Sebastian Bauer,
Sandra C. Dölken,
C. Ott,
...
C. Mundlos,
D. Horn,
S. Mundlos,
Peter N. Robinson
|
8 |
2009 |
8
🐜
|
|
🐜
|
Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish
7 auth.
Alexander Hruscha,
P. Krawitz,
Alexandra Rechenberg,
V. Heinrich,
J. Hecht,
C. Haass,
...
Bettina Schmid
|
8 |
2013 |
8
🐜
|
|
🐜
|
Improved exome prioritization of disease genes through cross-species phenotype comparison
13 auth.
Peter N. Robinson,
Sebastian Köhler,
A. Oellrich,
Kai Wang,
C. Mungall,
S. Lewis,
N. Washington,
Sebastian Bauer,
D. Seelow,
P. Krawitz,
...
C. Gilissen,
M. Haendel,
D. Smedley
|
8 |
2014 |
8
🐜
|
|
🦁
|
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
29 auth.
P. Krawitz,
M. Schweiger,
C. Rödelsperger,
C. Marcelis,
U. Kölsch,
C. Meisel,
Friederike Stephani,
T. Kinoshita,
Y. Murakami,
Sebastian Bauer,
Melanie Isau,
A. Fischer,
A. Dahl,
M. Kerick,
J. Hecht,
...
Sebastian Köhler,
M. Jäger,
Johannes Grünhagen,
Birgit Jonske de Condor,
S. Doelken,
H. Brunner,
P. Meinecke,
E. Passarge,
M. Thompson,
D. Cole,
D. Horn,
T. Roscioli,
S. Mundlos,
P. Robinson
|
8 |
2010 |
8
🦁
|
|
🐜
|
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
🐜
|
|
🐜
|
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
25 auth.
T. Żemojtel,
Sebastian Köhler,
Luisa Mackenroth,
M. Jäger,
J. Hecht,
P. Krawitz,
L. Graul-Neumann,
S. Doelken,
Nadja Ehmke,
M. Spielmann,
N. C. Øien,
M. Schweiger,
Ulrike Krüger,
Götz Frommer,
B. Fischer,
...
U. Kornak,
Ricarda Flöttmann,
A. Ardeshirdavani,
Y. Moreau,
S. Lewis,
M. Haendel,
D. Smedley,
D. Horn,
S. Mundlos,
P. Robinson
|
7 |
2014 |
7
🐜
|
|
🐜
|
Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression
52 auth.
N. Koutsouleris,
D. Dwyer,
F. Degenhardt,
C. Maj,
M. Urquijo-Castro,
R. Sanfelici,
D. Popovic,
O. Oeztuerk,
S. Haas,
Johanna Weiske,
A. Ruef,
L. Kambeitz-Ilankovic,
L. Antonucci,
S. Neufang,
C. Schmidt-Kraepelin,
...
S. Ruhrmann,
Nora Penzel,
J. Kambeitz,
T. Haidl,
M. Rosen,
Katharine Chisholm,
A. Riecher-Rössler,
L. Egloff,
A. Schmidt,
C. Andreou,
J. Hietala,
Timothy Schirmer,
G. Romer,
P. Walger,
M. Franscini,
N. Traber-Walker,
B. Schimmelmann,
R. Flückiger,
C. Michel,
W. Rössler,
O. Borisov,
P. Krawitz,
K. Heekeren,
Roman Buechler,
C. Pantelis,
P. Falkai,
R. Salokangas,
R. Lencer,
A. Bertolino,
S. Borgwardt,
M. Noethen,
P. Brambilla,
S. Wood,
R. Upthegrove,
F. Schultze-Lutter,
A. Theodoridou,
E. Meisenzahl
|
7 |
2020 |
7
🐜
|
|
🐜
|
PDE3A mutations cause autosomal dominant hypertension with brachydactyly
47 auth.
P. Maass,
A. Aydın,
F. Luft,
Carolin Schächterle,
A. Weise,
S. Stricker,
C. Lindschau,
M. Vaegler,
F. Qadri,
Hakan R Toka,
H. Schulz,
P. Krawitz,
D. Parkhomchuk,
J. Hecht,
Irene Hollfinger,
...
Yvette Wefeld-Neuenfeld,
Eireen Bartels-Klein,
A. Mühl,
M. Kann,
H. Schuster,
D. Chitayat,
M. Bialer,
T. Wienker,
J. Ott,
K. Rittscher,
T. Liehr,
J. Jordan,
G. Plessis,
J. Tank,
K. Mai,
R. Naraghi,
Russ Hodge,
M. Hopp,
L. Hattenbach,
A. Busjahn,
A. Rauch,
F. Vandeput,
Maolian Gong,
F. Rüschendorf,
N. Hübner,
H. Haller,
S. Mundlos,
N. Bilginturan,
M. Movsesian,
E. Klussmann,
O. Toka,
S. Bähring
|
7 |
2015 |
7
🐜
|
|
🦁
|
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
15 auth.
P. Krawitz,
Y. Murakami,
J. Hecht,
Ulrike Krüger,
S. Holder,
G. Mortier,
B. Delle Chiaie,
E. de Baere,
M. Thompson,
T. Roscioli,
...
S. Kiełbasa,
T. Kinoshita,
S. Mundlos,
P. Robinson,
D. Horn
|
7 |
2012 |
7
🦁
|
|
🐜
|
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
18 auth.
M. Spielmann,
F. Brancati,
P. Krawitz,
P. Robinson,
Daniel M. Ibrahim,
Martin Franke,
J. Hecht,
Silke Lohan,
K. Dathe,
A. Nardone,
...
P. Ferrari,
Antonio Landi,
L. Wittler,
B. Timmermann,
D. Chan,
U. Mennen,
E. Klopocki,
S. Mundlos
|
6 |
2012 |
6
🐜
|
