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Piotr Dittwald
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:
NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
Piotr Dittwald
,
Tomasz Gambin
,
Przemyslaw Szafranski
,
Jian Li
,
Stephen Amato
,
Michael Y. Divon
,
Lisa Ximena Rodríguez Rojas
,
Lindsay E. Elton
,
Daryl A. Scott
,
Christian P. Schaaf
,
Wilfredo Torres-Martinez
,
Abby K. Stevens
,
Jill A. Rosenfeld
,
Satish Agadi
,
David Francis
,
Sung-Hae L. Kang
,
Amy Breman
,
Seema R. Lalani
,
Carlos A. Bacino
,
Weimin Bi
,
Aleksandar Milosavljevic
,
Arthur L. Beaudet
,
Ankita Patel
,
Chad A. Shaw
,
James R. Lupski
,
Anna Gambin
,
Sau Wai Cheung
,
and
Pawel Stankiewicz
Genome Res.
September 2013
23
:
1395
-
1409
;
Published in Advance
May 8, 2013
,
doi:
10.1101/gr.152454.112
Abstract
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Research
:
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
Przemyslaw Szafranski
,
Avinash V. Dharmadhikari
,
Erwin Brosens
,
Priyatansh Gurha
,
Katarzyna E. Kołodziejska
,
Ou Zhishuo
,
Piotr Dittwald
,
Tadeusz Majewski
,
K. Naga Mohan
,
Bo Chen
,
Richard E. Person
,
Dick Tibboel
,
Annelies de Klein
,
Jason Pinner
,
Maya Chopra
,
Girvan Malcolm
,
Gregory Peters
,
Susan Arbuckle
,
Sixto F. Guiang III
,
Virginia A. Hustead
,
Jose Jessurun
,
Russel Hirsch
,
David P. Witte
,
Isabelle Maystadt
,
Neil Sebire
,
Richard Fisher
,
Claire Langston
,
Partha Sen
,
and
Paweł Stankiewicz
Genome Res.
January 2013
23
:
23
-
33
;
Published in Advance
October 3, 2012
,
doi:
10.1101/gr.141887.112
Abstract
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