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Method

Alu/Alu-mediated rearrangements" > Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

Xiaofei Song
Christine R. Beck
Renqian Du
Ian M. Campbell
Zeynep Coban-Akdemir
Shen Gu Amy M. Breman
... [+2 authors] ...,
Pawel Stankiewicz
Grzegorz Ira
Chad A. Shaw
James R. Lupski

First Published June 15, 2018

Research

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

Philip M. Boone
Ian M. Campbell
Brett C. Baggett
Zachry T. Soens
Mitchell M. Rao
Patricia M. Hixson Ankita Patel Weimin Bi Sau Wai Cheung Seema R. Lalani
... [+5 authors] ...,
Arthur L. Beaudet
Pawel Stankiewicz
Chad A. Shaw
James R. Lupski

First Published May 16, 2013

Research

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
... [+19 authors] ...,
James R. Lupski
Anna Gambin
Sau Wai Cheung
Pawel Stankiewicz

First Published May 8, 2013

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

LETTER

Copy number variation at the breakpoint region of isochromosome 17q

Claudia M.B. Carvalho
James R. Lupski

First Published August 19, 2008

LETTER

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12

Melanie Babcock
Svetlana Yatsenko
Pawel Stankiewicz
James R. Lupski
Bernice E. Morrow

First Published February 6, 2007

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

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

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

LETTER

Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP" > The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP

Pawel Stankiewicz
Sung-Sup Park
Ken Inoue
James R. Lupski

First Published July 1, 2001

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