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Research

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Kristine Bilgrav Saether
Jesper Eisfeldt
Jesse D. Bengtsson
Ming Yin Lun
Christopher M. Grochowski
Medhat Mahmoud Hsiao-Tuan Chao Jill A. Rosenfeld Pengfei Liu Marlene Ek Jakob Schuy Adam Ameur Hongzheng Dai James Paul Hwang Fritz J. Sedlazeck Weimin Bi Ronit Marom
... [+12 authors] ...,
Josephine Wincent
Ann Nordgren
Claudia M.B. Carvalho
Anna Lindstrand

First Published November 1, 2024

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

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