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Beverly S. Emanuel
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Displaying results 1-6 of
6
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Research
:
Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome
Lisanne Vervoort
,
Nicolas Dierckxsens
,
Marta Sousa Santos
,
Senne Meynants
,
Erika Souche
,
Ruben Cools
,
Tracy Heung
,
Koen Devriendt
,
Hilde Peeters
,
Donna M. McDonald-McGinn
,
Ann Swillen
,
Jeroen Breckpot
,
Beverly S. Emanuel
,
Hilde Van Esch
,
Anne S. Bassett
,
and
Joris R. Vermeesch
Genome Res.
April 2025
35
:
786
-
797
;
Published in Advance
November 13, 2024
,
doi:
10.1101/gr.279331.124
Abstract
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Research
:
The 22q11 low copy repeats are characterized by unprecedented size and structural variability
Wolfram Demaerel
,
Yulia Mostovoy
,
Feyza Yilmaz
,
Lisanne Vervoort
,
Steven Pastor
,
Matthew S. Hestand
,
Ann Swillen
,
Elfi Vergaelen
,
Elizabeth A. Geiger
,
Curtis R. Coughlin
,
Stephen K. Chow
,
Donna McDonald-McGinn
,
Bernice Morrow
,
Pui-Yan Kwok
,
Ming Xiao
,
Beverly S. Emanuel
,
Tamim H. Shaikh
,
and
Joris R. Vermeesch
Genome Res.
September 2019
29
:
1389
-
1401
;
doi:
10.1101/gr.248682.119
Abstract
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LETTER
:
Chromosomal instability mediated by non-B DNA: Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans
Hidehito Inagaki
,
Tamae Ohye
,
Hiroshi Kogo
,
Takema Kato
,
Hasbaira Bolor
,
Mariko Taniguchi
,
Tamim H. Shaikh
,
Beverly S. Emanuel
,
and
Hiroki Kurahashi
Genome Res.
February 2009
19
:
191
-
198
;
Published in Advance
November 7, 2008
,
doi:
10.1101/gr.079244.108
Abstract
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LETTER
:
Molecular cloning of a translocation breakpoint hotspot in 22q11
Hiroki Kurahashi
,
Hidehito Inagaki
,
Eriko Hosoba
,
Takema Kato
,
Tamae Ohye
,
Hiroshi Kogo
,
and
Beverly S. Emanuel
Genome Res.
April 2007
17
:
461
-
469
;
Published in Advance
January 31, 2007
,
doi:
10.1101/gr.5769507
Abstract
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LETTER
:
A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies
Anthony L. Gotter
,
Manjunath A. Nimmakayalu
,
G. Reza Jalali
,
April M. Hacker
,
Jacob Vorstman
,
Danielle Conforto Duffy
,
Livija Medne
,
and
Beverly S. Emanuel
Genome Res.
April 2007
17
:
470
-
481
;
Published in Advance
March 9, 2007
,
doi:
10.1101/gr.6130907
Abstract
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LETTER
:
Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms
Tamim H. Shaikh
,
Ronald J. O’Connor
,
Mary Ella Pierpont
,
James McGrath
,
April M. Hacker
,
Manjunath Nimmakayalu
,
Elizabeth Geiger
,
Beverly S. Emanuel
,
and
Sulagna C. Saitta
Genome Res.
April 2007
17
:
482
-
491
;
Published in Advance
March 9, 2007
,
doi:
10.1101/gr.5986507
Abstract
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Single-cell gene signature scoring
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