|
🐜
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Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation
14 auth.
Bianca Hartmann,
T. Wai,
Hao Hu,
T. MacVicar,
L. Musante,
Björn Fischer-Zirnsak,
W. Stenzel,
R. Gräf,
L. P. Van den Heuvel,
H. Ropers,
...
T. Wienker,
C. Hübner,
T. Langer,
A. Kaindl
|
6 |
2016 |
6
🐜
|
|
🐜
|
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
22 auth.
U. S. Melo,
R. Schöpflin,
R. Acuna-Hidalgo,
M. A. Mensah,
Björn Fischer-Zirnsak,
M. Holtgrewe,
Marius-Konstantin Klever,
S. Türkmen,
V. Heinrich,
Ilina D. Pluym,
...
E. Matoso,
Sérgio Bernardo de Sousa,
P. Louro,
W. Hülsemann,
M. Cohen,
A. Dufke,
A. Latos-Bieleńska,
M. Vingron,
V. Kalscheuer,
F. Quintero-Rivera,
M. Spielmann,
S. Mundlos
|
6 |
2020 |
6
🐜
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|
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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
45 auth.
T. Damme,
T. Gardeitchik,
M. Mohamed,
S. Guerrero-Castillo,
P. Freisinger,
Brecht Guillemyn,
A. Kariminejad,
D. Dalloyaux,
S. V. Kraaij,
D. Lefeber,
D. Syx,
W. Steyaert,
R. Rycke,
A. Hoischen,
E. Kamsteeg,
...
Sunnie Y. Wong,
M. V. Scherpenzeel,
P. Jamali,
U. Brandt,
L. Nijtmans,
G. Korenke,
B. Chung,
C. Mak,
I. Hausser,
U. Kornak,
U. Kornak,
Björn Fischer-Zirnsak,
Björn Fischer-Zirnsak,
T. Strom,
T. Meitinger,
Y. Alanay,
G. Utine,
P. K. Leung,
S. Ghaderi-sohi,
P. Coucke,
S. Symoens,
A. Paepe,
C. Thiel,
T. Haack,
T. Haack,
F. Malfait,
E. Morava,
E. Morava,
B. Callewaert,
R. Wevers
|
6 |
2017 |
6
🐜
|
|
🐜
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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
45 auth.
T. Damme,
T. Gardeitchik,
M. Mohamed,
S. Guerrero-Castillo,
P. Freisinger,
Brecht Guillemyn,
A. Kariminejad,
D. Dalloyaux,
S. V. Kraaij,
D. Lefeber,
D. Syx,
W. Steyaert,
R. Rycke,
A. Hoischen,
E. Kamsteeg,
...
Sunnie Y. Wong,
M. V. Scherpenzeel,
P. Jamali,
U. Brandt,
L. Nijtmans,
G. Korenke,
B. Chung,
C. Mak,
I. Hausser,
U. Kornak,
U. Kornak,
Björn Fischer-Zirnsak,
Björn Fischer-Zirnsak,
T. Strom,
T. Meitinger,
Y. Alanay,
G. Utine,
P. K. Leung,
S. Ghaderi-sohi,
P. Coucke,
S. Symoens,
A. Paepe,
C. Thiel,
T. Haack,
T. Haack,
F. Malfait,
E. Morava,
E. Morava,
B. Callewaert,
R. Wevers
|
6 |
2017 |
6
🐜
|
|
🐜
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Arterial tortuosity syndrome: 40 new families and literature review
64 auth.
A. Beyens,
J. Albuisson,
A. Boel,
Mazen Al-Essa,
Waheed Al-Manea,
D. Bonnet,
O. Bostan,
O. Boute,
T. Busa,
N. Canham,
E. Çil,
P. Coucke,
M. Cousin,
M. Dasouki,
J. De Backer,
...
A. De Paepe,
S. de Schepper,
D. D. de Silva,
K. Devriendt,
I. de Wandele,
D. Deyle,
H. Dietz,
S. Dupuis-Girod,
E. Fontenot,
Björn Fischer-Zirnsak,
A. Gezdirici,
J. Ghoumid,
F. Giuliano,
N. B. Díez,
M. Z. Haider,
Joshua S. Hardin,
X. Jeunemaître,
E. Klee,
U. Kornak,
M. Landecho,
A. Legrand,
B. Loeys,
S. Lyonnet,
Helen Michael,
P. Moceri,
S. Mohammed,
L. Muiño-Mosquera,
S. Nampoothiri,
K. Pichler,
K. Prescott,
A. Rajeb,
M. Ramos-Arroyo,
M. Rossi,
M. Salih,
M. Z. Seidahmed,
E. Schaefer,
E. Steichen‐Gersdorf,
S. Temel,
F. Uysal,
M. Vanhomwegen,
L. Van Laer,
L. Van Maldergem,
D. Warner,
A. Willaert,
T. R. Collins,
A. Taylor,
E. Davis,
Y. Zarate,
B. Callewaert
|
6 |
2018 |
6
🐜
|
|
🦁
|
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
34 auth.
Björn Fischer-Zirnsak,
N. Escande-Beillard,
J. Ganesh,
Yu Tan,
Mohammed Al Bughaili,
A. Lin,
I. Sahai,
Paulina Bahena,
S. L. Reichert,
A. Loh,
G. Wright,
J. Liu,
E. Rahikkala,
E. Pivnick,
A. Choudhri,
...
Ulrike Krüger,
T. Żemojtel,
C. V. van Ravenswaaij-Arts,
Roya M Mostafavi,
I. Stolte-Dijkstra,
S. Symoens,
L. Pajunen,
L. Al-Gazali,
D. Meierhofer,
P. Robinson,
S. Mundlos,
C. Villarroel,
P. Byers,
A. Masri,
S. Robertson,
U. Schwarze,
B. Callewaert,
B. Reversade,
U. Kornak
|
6 |
2015 |
6
🦁
|
|
🐜
|
PEDIA: prioritization of exome data by image analysis
94 auth.
Tzung-Chien Hsieh,
M. A. Mensah,
J. Pantel,
Krawitz Peter,
Dione Aguilar,
Omri Bar,
A. Bayat,
L. Becerra-Solano,
H. Bentzen,
S. Biskup,
O. Borisov,
O. Braaten,
C. Ciaccio,
Marie Coutelier,
K. Cremer,
...
Magdalena Danyel,
Svenja Daschkey,
Hilda David-Eden,
K. Devriendt,
Sandra C. Dölken,
S. Douzgou,
Dejan Đukić,
Nadja Ehmke,
C. Fauth,
Björn Fischer-Zirnsak,
N. Fleischer,
H. Gabriel,
L. Graul-Neumann,
K. Gripp,
Yaron Gurovich,
A. Gusina,
Nechama Haddad,
Nurulhuda Hajjir,
Yair Hanani,
J. Hertzberg,
Hoertnagel Konstanze,
Janelle Howell,
Ivan Ivanovski,
A. Kaindl,
Tom Kamphans,
S. Kamphausen,
Catherine Karimov,
H. Kathom,
A. Keryan,
Salma-Gamal Khalil,
Alexej Knaus,
Sebastian Köhler,
U. Kornak,
A. Lavrov,
Maximilian Leitheiser,
J. G. Lyon,
E. Mangold,
Purificación Marín Reina,
A. Martínez Carrascal,
D. Mitter,
Laura Morlán Herrador,
Guy Nadav,
M. Nöthen,
A. Orrico,
C. Ott,
Kristen L. Park,
B. Peterlin,
L. Pölsler,
A. Raas‐Rothschild,
N. Revencu,
Christina Ringmann Fagerberg,
Peter N. Robinson,
Stanislav Rosnev,
Sabine Rudnik,
G. Rudolf,
U. Schatz,
A. Schossig,
M. Schubach,
Or Shanoon,
E. Sheridan,
P. Smirin-Yosef,
M. Spielmann,
E. Suk,
Y. Sznajer,
C. Thiel,
G. Thiel,
A. Verloes,
Irena Vrecar,
D. Wahl,
Ingrid Weber,
Korina Winter,
M. Wiśniewska,
B. Wollnik,
M. Yeung,
Max Zhao,
Na Zhu,
J. Zschocke,
S. Mundlos,
D. Horn
|
6 |
2018 |
6
🐜
|
|
🐜
|
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
32 auth.
Nadja Ehmke,
L. Graul-Neumann,
Lukasz Smorag,
R. Koenig,
Lara Segebrecht,
P. Magoulas,
F. Scaglia,
E. Kılıç,
A. Hennig,
N. Adolphs,
Namrata Saha,
B. Fauler,
V. Kalscheuer,
F. Hennig,
J. Altmüller,
...
C. Netzer,
H. Thiele,
P. Nürnberg,
G. Yigit,
M. Jäger,
J. Hecht,
Ulrike Krüger,
T. Mielke,
P. Krawitz,
D. Horn,
M. Schuelke,
S. Mundlos,
C. Bacino,
P. Bonnen,
B. Wollnik,
Björn Fischer-Zirnsak,
U. Kornak
|
5 |
2017 |
5
🐜
|
|
🦁
|
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
38 auth.
Björn Fischer-Zirnsak,
Lara Segebrecht,
M. Schubach,
P. Charles,
Emily Alderman,
K. Brown,
Maxime Cadieux-Dion,
Tracy Cartwright,
Yanmin Chen,
Carrie E Costin,
S. Fehr,
Keely Fitzgerald,
E. Fleming,
Kimberly Foss,
T. Ha,
...
Gabriele Hildebrand,
D. Horn,
Shuxi Liu,
E. Marco,
M. McDonald,
K. McWalter,
Simone Race,
E. Rush,
Y. Si,
Carol J. Saunders,
A. Slavotinek,
S. Stockler-Ipsiroglu,
A. Telegrafi,
I. Thiffault,
E. Torti,
A. Tsai,
X. Wang,
M. Zafar,
B. Keren,
U. Kornak,
C. Boerkoel,
G. Mirzaa,
Nadja Ehmke
|
5 |
2019 |
5
🦁
|
