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Research

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing

  • Jesper Eisfeldt
  • Edward J. Higginbotham
  • Felix Lenner
  • Jennifer Howe
  • Bridget A. Fernandez
  • Anna Lindstrand
  • Stephen W. Scherer
  • Lars Feuk
  • First Published October 29, 2024
Research

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

  • Jesper Eisfeldt
  • Adam Ameur
  • Felix Lenner
  • Esmee Ten Berk de Boer
  • Marlene Ek
  • Josephine Wincent Raquel Vaz Jesper Ottosson Tord Jonson Sofie Ivarsson Sofia Thunström Alexandra Topa Simon Stenberg Anna Rohlin Anna Sandestig Margareta Nordling Pia Palmebäck Magnus Burstedt Frida Nordin Eva-Lena Stattin Maria Sobol Panagiotis Baliakas Marie-Louise Bondeson Ida Höijer Kristine Bilgrav Saether Lovisa Lovmar
  • ... [+21 authors] ...,
  • Hans Ehrencrona
  • Malin Melin
  • Lars Feuk
  • Anna Lindstrand
  • First Published October 29, 2024
Research

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

  • Myungjin Jo
  • Ah Young Chung
  • Nozomu Yachie
  • Minchul Seo
  • Hyejin Jeon
  • Youngpyo Nam Yeojin Seo Eunmi Kim Quan Zhong
  • ... [+4 authors] ...,
  • Marc Vidal
  • Hae Chul Park
  • Frederick P. Roth
  • Kyoungho Suk
  • First Published June 8, 2017
Method

An extended set of yeast-based functional assays accurately identifies human disease mutations

  • Song Sun
  • Fan Yang
  • Guihong Tan
  • Michael Costanzo
  • Rose Oughtred
  • Jodi Hirschman Chandra L. Theesfeld Pritpal Bansal Nidhi Sahni Song Yi Analyn Yu Tanya Tyagi Cathy Tie David E. Hill Marc Vidal
  • ... [+10 authors] ...,
  • Brenda J. Andrews
  • Charles Boone
  • Kara Dolinski
  • Frederick P. Roth
  • First Published March 14, 2016
Resource

C. elegans ORFeome" > Large-scale RACE approach for proactive experimental definition of C. elegans ORFeome

  • Kourosh Salehi-Ashtiani
  • Chenwei Lin
  • Tong Hao
  • Yun Shen
  • David Szeto
  • Xinping Yang Lila Ghamsari HanJoo Lee Changyu Fan Ryan R. Murray Stuart Milstein Nenad Svrzikapa
  • ... [+7 authors] ...,
  • Michael E. Cusick
  • Frederick P. Roth
  • David E. Hill
  • Marc Vidal
  • First Published October 2, 2009
Resource

Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network

  • Gabriel Markson
  • Christina Kiel
  • Russell Hyde
  • Stephanie Brown
  • Panagoula Charalabous
  • Anja Bremm Jennifer Semple Jonathan Woodsmith Simon Duley Kourosh Salehi-Ashtiani Marc Vidal
  • ... [+6 authors] ...,
  • David Komander
  • Luis Serrano
  • Paul Lehner
  • Christopher M. Sanderson
  • First Published June 23, 2009
Methods

Shifted Transversal Design smart-pooling for high coverage interactome mapping

  • Xiaofeng Xin
  • Jean-François Rual
  • Tomoko Hirozane-Kishikawa
  • David E. Hill
  • Marc Vidal
  • Charles Boone
  • Nicolas Thierry-Mieg
  • First Published May 15, 2009
LETTER

Saccharomyces cerevisiae predicted ORFeome" > Revisiting the Saccharomyces cerevisiae predicted ORFeome

  • Qian-Ru Li
  • Anne-Ruxandra Carvunis
  • Haiyuan Yu
  • Jing-Dong J. Han
  • Quan Zhong
  • Nicolas Simonis Stanley Tam Tong Hao Niels J. Klitgord Denis Dupuy Danny Mou Ilan Wapinski
  • ... [+7 authors] ...,
  • Aviv Regev
  • David E. Hill
  • Michael E. Cusick
  • Marc Vidal
  • First Published May 23, 2008
Methods

Accurate and reliable high-throughput detection of copy number variation in the human genome

  • Heike Fiegler
  • Richard Redon
  • Dan Andrews
  • Carol Scott
  • Robert Andrews
  • Carol Carder Richard Clark Oliver Dovey Peter Ellis Lars Feuk Lisa French Paul Hunt Dimitrios Kalaitzopoulos James Larkin Lyndal Montgomery George H. Perry Bob W. Plumb Keith Porter Rachel E. Rigby Diane Rigler Armand Valsesia Cordelia Langford Sean J. Humphray
  • ... [+18 authors] ...,
  • Stephen W. Scherer
  • Charles Lee
  • Matthew E. Hurles
  • Nigel P. Carter
  • First Published November 22, 2006
REVIEW

Copy number variation: New insights in genome diversity

  • Jennifer L. Freeman
  • George H. Perry
  • Lars Feuk
  • Richard Redon
  • Steven A. McCarroll
  • David M. Altshuler Hiroyuki Aburatani Keith W. Jones Chris Tyler-Smith
  • ... [+4 authors] ...,
  • Matthew E. Hurles
  • Nigel P. Carter
  • Stephen W. Scherer
  • Charles Lee
  • First Published June 29, 2006
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