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Your search for returned 25 results

Method

Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End

Lucinda C. Xiao
Ayush Semwal
Brianna St John
Kathleen Zeglinski
Shian Su
James Lancaster Shifeng Xue Bruno Reversade
... [+3 authors] ...,
Matthew E. Ritchie
Frédérique Magdinier
Marnie E. Blewitt
Quentin Gouil

First Published March 23, 2026

Method

Single-cell Rapid Capture Hybridization sequencing reliably detects isoform usage and coding mutations in targeted genes

Hongke Peng
Jafar S. Jabbari
Luyi Tian
Changqing Wang
Yupei You
Chong Chyn Chua Natasha S. Anstee Noorul Amin Andrew H. Wei Nadia M. Davidson
... [+5 authors] ...,
Andrew W. Roberts
David C.S. Huang
Matthew E. Ritchie
Rachel Thijssen

First Published January 10, 2025

Method

An optimized protocol for quality control of gene therapy vectors using nanopore direct RNA sequencing

Kathleen Zeglinski
Christian Montellese
Matthew E. Ritchie
Monther Alhamdoosh
Cédric Vonarburg
Rory Bowden
... [+1 authors] ...,
Monika Jordi
Quentin Gouil
Florian Aeschimann
Arthur Hsu

First Published October 28, 2024

Method

Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing

Sena A. Gocuk
James Lancaster
Shian Su
Jasleen K. Jolly
Thomas L. Edwards
Doron G. Hickey
... [+1 authors] ...,
Matthew E. Ritchie
Marnie E. Blewitt
Lauren N. Ayton
Quentin Gouil

First Published September 16, 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

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