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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

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

Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group.

  • S Ghosh
  • Z E Karanjawala
  • E R Hauser
  • D Ally
  • J I Knapp
  • J B Rayman A Musick J Tannenbaum C Te S Shapiro W Eldridge T Musick C Martin J R Smith J D Carpten M J Brownstein J I Powell R Whiten P Chines
  • ... [+14 authors] ...,
  • S J Nylund
  • V L Magnuson
  • M Boehnke
  • F S Collins
  • First Published February 1, 1997
ARTICLE

Approach to genotyping errors caused by nontemplated nucleotide addition by Taq DNA polymerase.

  • J R Smith
  • J D Carpten
  • M J Brownstein
  • S Ghosh
  • V L Magnuson
  • D A Gilbert
  • J M Trent
  • F S Collins
  • First Published October 1, 1995
ARTICLE

Use of stock solutions to simplify mRNA quantitation by reverse transcription--PCR assays.

  • D Chen
  • V L Magnuson
  • B Steffensen
  • R J Klebe
  • First Published May 1, 1993
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