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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 Virginia A. Hustead Jose Jessurun Russel Hirsch David P. Witte Isabelle Maystadt Neil Sebire
... [+20 authors] ...,
Richard Fisher
Claire Langston
Partha Sen
Paweł Stankiewicz

First Published October 3, 2012

Research

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

Zhishuo Ou
Paweł Stankiewicz
Zhilian Xia
Amy M. Breman
Brian Dawson
Joanna Wiszniewska Przemyslaw Szafranski M. Lance Cooper Mitchell Rao Lina Shao Sarah T. South Karlene Coleman Paul M. Fernhoff Marcel J. Deray Sally Rosengren Elizabeth R. Roeder Victoria B. Enciso A. Craig Chinault Ankita Patel
... [+14 authors] ...,
Sung-Hae L. Kang
Chad A. Shaw
James R. Lupski
Sau W. Cheung

First Published January 4, 2011

ARTICLE

Serial segmental duplications during primate evolution result in complex human genome architecture

Paweł Stankiewicz
Christine J. Shaw
Marjorie Withers
Ken Inoue
James R. Lupski

First Published November 1, 2004

ARTICLE

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Weimin Bi
Jiong Yan
Paweł Stankiewicz
Sung-Sup Park
Katherina Walz
Cornelius F. Boerkoel Lorraine Potocki Lisa G. Shaffer
... [+3 authors] ...,
Koen Devriendt
Małgorzata J.M. Nowaczyk
Ken Inoue
James R. Lupski

First Published May 1, 2002

ARTICLE

Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

Sung-Sup Park
Paweł Stankiewicz
Weimin Bi
Christine Shaw
Jessica Lehoczky
Ken Dewar
Bruce Birren
James R. Lupski

First Published May 1, 2002

ARTICLE

Isolation of chromosome-specific ESTs by microdissection-mediated cDNA capture.

E Gracia
M E Ray
M H Polymeropoulos
A Dehejia
P S Meltzer
J M Trent

First Published February 1, 1997

ARTICLES

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.

M R Johnson
M H Polymeropoulos
H L Vos
R I Ortiz de Luna
C A Francomano

First Published November 1, 1996

ARTICLE

The human CAS (cellular apoptosis susceptibility) gene mapping on chromosome 20q13 is amplified in BT474 breast cancer cells and part of aberrant chromosomes in breast and colon cancer cell lines.

U Brinkmann
M Gallo
M H Polymeropoulos
I Pastan

First Published March 1, 1996

ARTICLES

Eliminating mitochondrial DNA competition for nuclear DNA primers.

S Zullo
J L Kennedy
J Gelernter
M H Polymeropoulos
G Tallini
A J Pakstis
M B Shapiro
C R Merril
K K Kidd

First Published August 1, 1993