|
🦁
|
Walking the interactome for prioritization of candidate disease genes.
Sebastian Köhler,
Sebastian Bauer,
D. Horn,
P. Robinson
|
10 |
2008 |
10
🦁
|
|
🐬
|
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
P. Robinson,
Sebastian Köhler,
Sebastian Bauer,
D. Seelow,
D. Horn,
S. Mundlos
|
9 |
2008 |
9
🐬
|
|
🦁
|
The Human Phenotype Ontology in 2021
51 auth.
Sebastian Köhler,
M. Gargano,
N. Matentzoglu,
Leigh Carmody,
D. Lewis-Smith,
N. Vasilevsky,
D. Danis,
G. Balagura,
G. Baynam,
Amy M. Brower,
T. Callahan,
C. Chute,
Johanna L Est,
P. Galer,
S. Ganesan,
...
M. Griese,
M. Haimel,
J. Pazmandi,
M. Hanauer,
N. Harris,
Michael J Hartnett,
M. Hastreiter,
F. Hauck,
Y. He,
T. Jeske,
H. Kearney,
G. Kindle,
C. Klein,
Katrin Knoflach,
R. Krause,
D. Lagorce,
J. McMurry,
Jillian Miller,
M. Munoz-Torres,
R. L. Peters,
Christina K. Rapp,
A. Rath,
Shahmir Rind,
A. Rosenberg,
Michael M. Segal,
M. Seidel,
D. Smedley,
T. Talmy,
Yarlalu Thomas,
Samuel A Wiafe,
J. Xian,
Z. Yüksel,
I. Helbig,
C. Mungall,
M. Haendel,
Peter N. Robinson
|
9 |
2020 |
9
🦁
|
|
🦁
|
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
47 auth.
Sebastian Köhler,
S. Doelken,
C. Mungall,
Sebastian Bauer,
H. Firth,
I. Bailleul-Forestier,
G. Black,
Danielle L. Brown,
M. Brudno,
Jennifer Campbell,
D. FitzPatrick,
J. Eppig,
A. Jackson,
K. Freson,
M. Gîrdea,
...
I. Helbig,
J. Hurst,
J. Jähn,
L. Jackson,
A. Kelly,
D. Ledbetter,
S. Mansour,
C. Martin,
C. Moss,
A. Mumford,
W. Ouwehand,
Soo-Mi Park,
E. Riggs,
R. Scott,
S. Sisodiya,
S. V. Vooren,
R. Wapner,
A. Wilkie,
C. Wright,
A. V. Silfhout,
N. Leeuw,
B. Vries,
N. Washington,
Cynthia L. Smith,
M. Westerfield,
P. Schofield,
B. Ruef,
G. Gkoutos,
M. Haendel,
D. Smedley,
S. Lewis,
Peter N. Robinson
|
9 |
2014 |
9
🦁
|
|
🦁
|
The Human Phenotype Ontology in 2017
59 auth.
Sebastian Köhler,
N. Vasilevsky,
M. Engelstad,
Erin Foster,
J. McMurry,
S. Aymé,
G. Baynam,
S. Bello,
C. Boerkoel,
K. Boycott,
M. Brudno,
Orion J. Buske,
P. Chinnery,
Valentina Cipriani,
Laureen E. Connell,
...
H. Dawkins,
Laura E. DeMare,
A. Devereau,
B. Vries,
H. Firth,
K. Freson,
D. Greene,
A. Hamosh,
I. Helbig,
C. Hum,
J. Jähn,
R. James,
R. Krause,
S. Laulederkind,
Hanns Lochmüller,
G. Lyon,
S. Ogishima,
A. Olry,
W. Ouwehand,
N. Pontikos,
A. Rath,
F. Schaefer,
R. Scott,
Michael Segal,
P. Sergouniotis,
Richard Sever,
Cynthia L. Smith,
V. Straub,
R. Thompson,
C. Turner,
E. Turro,
M. Veltman,
T. Vulliamy,
Jing Yu,
J. V. Ziegenweidt,
A. Zankl,
S. Züchner,
T. Żemojtel,
Julius O. B. Jacobsen,
T. Groza,
D. Smedley,
C. Mungall,
M. Haendel,
Peter N. Robinson
|
9 |
2016 |
9
🦁
|
|
🦁
|
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
69 auth.
Sebastian Köhler,
Leigh Carmody,
N. Vasilevsky,
Julius O. B. Jacobsen,
D. Danis,
J. Gourdine,
M. Gargano,
N. Harris,
Nicolas Matentzoglu,
J. McMurry,
David Osumi-Sutherland,
Valentina Cipriani,
J. Balhoff,
Tom Conlin,
H. Blau,
...
G. Baynam,
Richard Palmer,
Dylan Gratian,
H. Dawkins,
Michael Segal,
A. Jansen,
A. Muaz,
Willie H. Chang,
J. Bergerson,
S. Laulederkind,
Z. Yüksel,
S. Beltran,
A. Freeman,
P. Sergouniotis,
D. Durkin,
A. L. Storm,
M. Hanauer,
M. Brudno,
S. Bello,
M. Sincan,
Kayli Rageth,
M. Wheeler,
R. Oegema,
Halima Lourghi,
Maria G. Della Rocca,
R. Thompson,
Francisco Castellanos,
J. Priest,
C. Cunningham-Rundles,
Ayushi Hegde,
R. Lovering,
C. Hajek,
A. Olry,
L. Notarangelo,
M. Similuk,
X. A. Zhang,
D. Gómez-Andrés,
Hanns Lochmüller,
H. Dollfus,
S. Rosenzweig,
S. Marwaha,
A. Rath,
K. Sullivan,
Cynthia L. Smith,
J. Milner,
D. Leroux,
C. Boerkoel,
A. Klion,
M. Carter,
T. Groza,
D. Smedley,
M. Haendel,
C. Mungall,
Peter N. Robinson
|
9 |
2018 |
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
🦁
|
|
🐜
|
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
26 auth.
C. Mungall,
J. McMurry,
Sebastian Köhler,
J. Balhoff,
Charles D. Borromeo,
Matthew H. Brush,
S. Carbon,
Tom Conlin,
Nathan A. Dunn,
M. Engelstad,
Erin Foster,
J. Gourdine,
Julius O. B. Jacobsen,
Daniel Keith,
Bryan Laraway,
...
S. Lewis,
Jeremy Nguyen Xuan,
Kent A. Shefchek,
N. Vasilevsky,
Z. Yuan,
N. Washington,
H. Hochheiser,
T. Groza,
D. Smedley,
Peter N. Robinson,
M. Haendel
|
8 |
2016 |
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
🐜
|
|
🐜
|
Next-generation diagnostics and disease-gene discovery with the Exomiser
13 auth.
D. Smedley,
Julius O. B. Jacobsen,
M. Jäger,
Sebastian Köhler,
M. Holtgrewe,
M. Schubach,
Enrico Siragusa,
T. Żemojtel,
Orion J. Buske,
N. Washington,
...
W. Bone,
M. Haendel,
Peter N. Robinson
|
8 |
2015 |
8
🐜
|
|
🐜
|
How many rare diseases are there?
19 auth.
M. Haendel,
N. Vasilevsky,
Deepak R. Unni,
C. Bologa,
N. Harris,
H. Rehm,
A. Hamosh,
G. Baynam,
T. Groza,
J. McMurry,
...
H. Dawkins,
A. Rath,
Courtney Thaxon,
G. Bocci,
marcin p. joachimiak,
Sebastian Köhler,
Peter N. Robinson,
C. Mungall,
Tudor I. Oprea
|
8 |
2019 |
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
🐜
|
