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Guidelines for diagnostic next-generation sequencing
14 auth.
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M. Alders,
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M. Weiss,
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H. Yntema,
E. Bakker,
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P. Bauer
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8 |
2015 |
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A standardized framework for the validation and verification of clinical molecular genetic tests
9 auth.
C. Mattocks,
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7 |
2010 |
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Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
10 auth.
P. V. Damme,
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M. Blitterswijk,
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B. Dubois,
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7 |
2011 |
7
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Disease‐associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
26 auth.
I. Melki,
Yoann Rose,
C. Uggenti,
L. Van Eyck,
M. Frémond,
Naoki Kitabayashi,
G. Rice,
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Anais Boulai,
N. Jeremiah,
M. Gattorno,
Sefano Volpi,
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7 |
2017 |
7
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Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia.
11 auth.
A. Martini,
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H. Janssen,
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P. Marynen
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6 |
2002 |
6
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Inherited p40phox deficiency differs from classic chronic granulomatous disease
59 auth.
A. van de Geer,
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J. Franco,
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J. V. van Hamme,
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P. Verkuijlen,
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Carlos A. Arango-Franco,
V. Batura,
A. Bernasconi,
Barbara Boardman,
C. Booth,
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Felipe Cabarcas,
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F. Charbit-Henrion,
A. Corveleyn,
C. Deswarte,
M. E. Azcoiti,
D. Foell,
J. Gallin,
C. Garcés,
M. Guedes,
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H. Malech,
I. Meyts,
M. Moncada-Vélez,
K. Moriya,
Esmeralda Neves,
M. Oleastro,
Laura Perez,
Vimel Rattina,
Carmen Oleaga-Quintas,
N. Warner,
A. Muise,
Jeanette López,
E. Trindade,
Julia Vasconcelos,
S. Vermeire,
H. Wittkowski,
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J. Casanova,
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J. Bustamante
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6 |
2018 |
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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
158 auth.
J. Barc,
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C. Glinge,
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Mariam Jouni,
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F. Potet,
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S. Anys,
Damien Minois,
M. Arnaud,
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M. Torchio,
Cristina Gil Ortuño,
J. Lacunza,
D. Giachino,
N. Cerrato,
R. Martins,
Ó. Campuzano,
S. Van Dooren,
A. Thollet,
F. Kyndt,
A. Mazzanti,
N. Clementy,
A. Bisson,
A. Corveleyn,
B. Stallmeyer,
S. Dittmann,
J. Saenen,
Antoine Noël,
S. Honarbakhsh,
B. Rudic,
H. Marzak,
M. Rowe,
C. Federspiel,
Sophie Le Page,
L. Placide,
A. Milhem,
H. Barajas-Martinez,
B. Beckmann,
I. Krapels,
J. Steinfurt,
B. Winkel,
R. Jabbari,
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B. Boukens,
Doris Škorić-Milosavljević,
H. Bikker,
Federico Manevy,
P. Lichtner,
M. Ribasés,
T. Meitinger,
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Konstantin Annette Holger Lars Reiner Margit Strauch Peters Schulz Schwettmann Leidl Heier,
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Annette Peters,
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L. Schwettmann,
R. Leidl,
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P. van Damme,
D. Cusi,
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S. Rigade,
Eric Charpentier,
E. Baron,
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Audrey Donnart,
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S. Chatel,
Matilde Karakachoff,
S. Bézieau,
B. London,
J. Tfelt‐Hansen,
D. Roden,
K. Odening,
M. Cerrone,
L. Chinitz,
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Maarten P. van de Berg,
G. Laurent,
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6 |
2022 |
6
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Guidelines for Genetic Testing and Management of Alport Syndrome.
44 auth.
J. Savige,
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D. Ljubanović,
F. Becherucci,
C. Errichiello,
...
L. Massella,
V. Aiello,
R. Lennon,
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A. Koziell,
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H. Rothe,
J. Hoefele,
M. Zacchia,
T. N. Martić,
Asheeta Gupta,
A. V. van Eerde,
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Samuela Landini,
Viviana Palazzo,
Laith Al-Rabadi,
K. Claes,
A. Corveleyn,
Evelien Van Hoof,
M. van Geel,
Maggie Williams,
E. Ashton,
Hendica Belge,
E. Ars,
A. Bierzynska,
C. Gangemi,
A. Renieri,
H. Storey,
F. Flinter
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6 |
2021 |
6
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Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
43 auth.
J. Savige,
H. Storey,
E. Watson,
J. Hertz,
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M. Gregory,
R. Čerkauskienė,
D. Ljubanović,
F. Becherucci,
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C. Errichiello,
L. Massella,
V. Aiello,
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J. Hoefele,
M. Zacchia,
T. N. Martić,
Asheeta Gupta,
A. V. van Eerde,
S. Gear,
Samuela Landini,
Viviana Palazzo,
Laith Al-Rabadi,
K. Claes,
A. Corveleyn,
Evelien Van Hoof,
M. van Geel,
Maggie Williams,
E. Ashton,
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6 |
2021 |
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Guidelines for diagnostic next-generation sequencing
14 auth.
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E. Sistermans,
M. Sturm,
M. Weiss,
...
H. Yntema,
E. Bakker,
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6 |
2016 |
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