|
๐ฆ
|
Detection of long repeat expansions from PCR-free whole-genome sequence data
44 auth.
E. Dolzhenko,
J. V. van Vugt,
Richard Shaw,
M. Bekritsky,
M. van Blitterswijk,
G. Narzisi,
S. Ajay,
Vani Rajan,
B. Lajoie,
Nathan H. Johnson,
Z. Kingsbury,
S. Humphray,
Raymond D. Schellevis,
W. Brands,
M. Baker,
...
R. Rademakers,
M. Kooyman,
Gijs H. P. Tazelaar,
M. V. van Es,
R. Mclaughlin,
W. Sproviero,
A. Shatunov,
Ashley Jones,
A. Al Khleifat,
A. Pittman,
Sarah Morgan,
O. Hardiman,
A. Al-Chalabi,
Chris E. Shaw,
Bradley N. Smith,
E. J. Neo,
K. Morrison,
P. Shaw,
C. Reeves,
Lara Winterkorn,
N. Wexler,
D. Housman,
C. Ng,
Alina L. Li,
R. Taft,
L. H. van den Berg,
D. Bentley,
J. Veldink,
M. Eberle
|
8 |
2016 |
8
๐ฆ
|
|
๐
|
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
192 auth.
W. V. Rheenen,
Rick A. A. van der Spek,
Mark K. Bakker,
J. Vugt,
P. Hop,
R. Zwamborn,
N. D. Klein,
H. Westra,
O. Bakker,
Patrick Deelen,
Gemma L Shireby,
E. Hannon,
M. Moisse,
D. Baird,
Restuadi Restuadi,
...
E. Dolzhenko,
Annelot M. Dekker,
Klara Gawor,
H. Westeneng,
Gijs H. P. Tazelaar,
K. V. van Eijk,
M. Kooyman,
Ross P. Byrne,
Mark A. Doherty,
M. Heverin,
Ahmad Al Khleifat,
A. Iacoangeli,
A. Shatunov,
N. Ticozzi,
Johnathan Cooper-Knock,
Bradley N. Smith,
M. Gromicho,
S. Chandran,
S. Pal,
K. Morrison,
P. Shaw,
J. Hardy,
R. Orrell,
M. Sendtner,
Thomas Meyer,
Nazlฤฑ A Baลak,
A. J. van der Kooi,
A. Ratti,
I. Fogh,
C. Gellera,
Giuseppe Lauria Pinter,
S. Corti,
Cristina Cereda,
D. Sproviero,
S. D'alfonso,
G. Soraru',
G. Siciliano,
M. Filosto,
A. Padovani,
A. Chiรฒ,
A. Calvo,
C. Moglia,
M. Brunetti,
A. Canosa,
M. Grassano,
E. Beghi,
E. Pupillo,
G. Logroscino,
B. Nefussy,
Alma Osmanovic,
Angelica Nordin,
Y. Lerner,
Michal Zabari,
M. Gotkine,
R. Baloh,
S. Bell,
P. Vourc'h,
P. Corcia,
P. Couratier,
S. Millecamps,
V. Meininger,
F. Salachas,
J. M. Pardina,
A. Assialioui,
R. RojasโGarcรญa,
P. Dion,
J. Ross,
A. Ludolph,
Jochen H Weishaupt,
David Brenner,
A. Freischmidt,
G. Bensimon,
A. Brice,
A. Dรผrr,
C. Payan,
Safa Saker-Delye,
N. Wood,
S. Topp,
R. Rademakers,
L. Tittmann,
W. Lieb,
A. Franke,
S. Ripke,
A. Braun,
J. Kraft,
D. Whiteman,
C. Olsen,
A. Uitterlinden,
A. Hofman,
M. Rietschel,
S. Cichon,
M. Nรถthen,
P. Amouyel,
B. Traynor,
A. Singleton,
Miguel Mitne Neto,
Ruben J. Cauchi,
R. Ophoff,
M. Wiedau-Pazos,
C. lomen-Hoerth,
V. V. Van Deerlin,
J. Grosskreutz,
A. Rรถdiger,
N. Gaur,
Alexander Jรถrk,
Tabea Barthel,
Erik Theele,
B. Ilse,
B. Stubendorff,
O. Witte,
R. Steinbach,
C. Hรผbner,
C. Graff,
L. Brylev,
V. Fominykh,
V. Demeshonok,
A. Ataulina,
B. Rogelj,
B. Koritnik,
J. Zidar,
M. Ravnik-Glavaฤ,
D. Glavaฤ,
Z. Stevic,
V. Drory,
M. Povedano,
I. Blair,
M. Kiernan,
Beben Benyamin,
R. Henderson,
S. Furlong,
S. Mathers,
P. Mccombe,
M. Needham,
S. Ngo,
G. Nicholson,
R. Pamphlett,
D. Rowe,
F. Steyn,
K. Williams,
K. Mather,
P. Sachdev,
A. Henders,
L. Wallace,
M. Carvalho,
S. Pinto,
S. Petri,
Markus Weber,
G. Rouleau,
V. Silani,
C. Curtis,
G. Breen,
J. Glass,
Robert H. Brown,
J. Landers,
C. Shaw,
P. Andersen,
E. Groen,
M. A. Es,
R. Pasterkamp,
Dongsheng Fan,
F. Garton,
A. McRae,
G. Davey Smith,
T. Gaunt,
M. Eberle,
J. Mill,
R. Mclaughlin,
O. Hardiman,
K. Kenna,
N. Wray,
E. Tsai,
H. Runz,
L. Franke,
A. Al-Chalabi,
P. Damme,
L. H. van den Berg,
J. Veldink
|
8 |
2021 |
8
๐
|
|
๐ฆ
|
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
22 auth.
E. Dolzhenko,
Viraj Deshpande,
F. Schlesinger,
P. Krusche,
Roman Petrovski,
Sai Chen,
Dorothea Emig-Agius,
Andrew M. Gross,
G. Narzisi,
B. Bowman,
...
K. Scheffler,
J. V. van Vugt,
Courtney E. French,
Alba Sanchis-Juan,
K. Ibรกรฑez,
A. Tucci,
B. Lajoie,
J. Veldink,
L. Raymond,
R. Taft,
D. Bentley,
M. Eberle
|
7 |
2019 |
7
๐ฆ
|
|
๐
|
Molecular characterization of the transition from acute to chronic kidney injury following ischemia/reperfusion
16 auth.
Jing Liu,
Sanjeev Kumar,
Sanjeev Kumar,
E. Dolzhenko,
Gregory F. Alvarado,
Jin-jin Guo,
Can Lu,
Yibu Chen,
Meng Li,
M. Dessing,
...
R. Parvez,
Pietro E. Cippร ,
A. M. Krautzberger,
G. Saribekyan,
Andrew D. Smith,
A. McMahon
|
7 |
2017 |
7
๐
|
|
๐
|
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
33 auth.
Haloom Rafehi,
D. Szmulewicz,
M. Bennett,
Nara Sobreira,
K. Pope,
Katherine R Smith,
Greta Gillies,
Peter Diakumis,
E. Dolzhenko,
Michael A. Eberle,
M. G. Barcina,
David P Breen,
Andrew M. Chancellor,
Phillip D. Cremer,
Martin B. Delatycki,
...
B. L. Fogel,
A. Hackett,
G. Halmagyi,
S. Kapetanovic,
Anthony Lang,
S. Mossman,
Weiyi Mu,
P. Patrikios,
Susan L. Perlman,
I. Rosemergy,
E. Storey,
Shaun RD Watson,
Michael A. Wilson,
David S. Zee,
D. Valle,
David J. Amor,
M. Bahlo,
Paul J Lockhart
|
7 |
2019 |
7
๐
|
|
๐
|
Genome-wide detection of tandem DNA repeats that are expanded in autism
41 auth.
B. Trost,
W. Engchuan,
Charlotte M. Nguyen,
Charlotte M. Nguyen,
B. Thiruvahindrapuram,
E. Dolzhenko,
I. Backstrom,
Mila Mirceta,
Bahareh A. Mojarad,
Yue Yin,
Alona Dov,
Induja Chandrakumar,
Tanya Prasolava,
Natalie Shum,
O. Hamdan,
...
G. Pellecchia,
J. Howe,
J. Whitney,
E. Klee,
S. Baheti,
D. Amaral,
E. Anagnostou,
M. Elsabbagh,
B. Fernandez,
N. Hoang,
M. Lewis,
Xudong Liu,
C. Sjaarda,
I. Smith,
P. Szatmari,
P. Szatmari,
L. Zwaigenbaum,
David Glazer,
D. Hartley,
A. Stewart,
M. Eberle,
N. Sato,
C. E. Pearson,
S. Scherer,
R. Yuen,
R. Yuen
|
7 |
2020 |
7
๐
|
|
๐ฆ
|
Using beta-binomial regression for high-precision differential methylation analysis in multifactor whole-genome bisulfite sequencing experiments
E. Dolzhenko,
Andrew D. Smith
|
7 |
2014 |
7
๐ฆ
|
|
๐
|
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
19 auth.
Galen E. B. Wright,
J. Collins,
C. Kay,
Cassandra L. McDonald,
E. Dolzhenko,
Q. Xia,
K. Beฤanoviฤ,
B. Drรถgemรถller,
A. Semaka,
Charlotte M. Nguyen,
...
B. Trost,
F. Richards,
E. Bijlsma,
F. Squitieri,
C. Ross,
S. Scherer,
M. Eberle,
R. Yuen,
M. Hayden
|
7 |
2019 |
7
๐
|
|
๐
|
Paragraph: a graph-based structural variant genotyper for short-read sequence data
11 auth.
Sai Chen,
P. Krusche,
E. Dolzhenko,
Rachel M. Sherman,
Roman Petrovski,
F. Schlesinger,
...
Melanie Kirsche,
D. Bentley,
M. Schatz,
F. Sedlazeck,
M. Eberle
|
7 |
2019 |
7
๐
|
|
๐ฆ
|
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
19 auth.
E. Dolzhenko,
M. Bennett,
Phillip A. Richmond,
B. Trost,
Sai Chen,
J. V. van Vugt,
Charlotte M. Nguyen,
G. Narzisi,
V. Gainullin,
Andrew M. Gross,
...
B. Lajoie,
R. Taft,
W. Wasserman,
S. Scherer,
J. Veldink,
D. Bentley,
R. Yuen,
M. Bahlo,
M. Eberle
|
7 |
2019 |
7
๐ฆ
|
|
๐
|
Repeat expansions confer WRN dependence in microsatellite-unstable cancers
33 auth.
Niek van Wietmarschen,
Sriram Sridharan,
W. Nathan,
Anthony T. Tubbs,
Edmond M. Chan,
E. Callen,
Wei Wu,
Frida Belinky,
Veenu Tripathi,
N. Wong,
K. Foster,
J. Noorbakhsh,
K. Garimella,
A. Cruz-Migoni,
J. Sommers,
...
Yongqing Huang,
Ashir A. Borah,
Jonathan T. Smith,
Jรฉrรฉmie Kalfon,
Nikolas Kesten,
Kasper Fugger,
R. Walker,
E. Dolzhenko,
M. Eberle,
B. Hayward,
K. Usdin,
C. Freudenreich,
R. Brosh,
S. West,
P. McHugh,
P. Meltzer,
A. Bass,
A. Nussenzweig
|
6 |
2020 |
6
๐
|
