Filter results by:
Author
Publication date
Article type

Filter by Article type

Your search for returned 53 results

Save search
Order by:
Show per page
Research

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

  • Haloom Rafehi
  • Liam G. Fearnley
  • Justin Read
  • Penny Snell
  • Kayli C. Davies
  • Liam Scott Greta Gillies Genevieve C. Thompson Tess A. Field Aleena Eldo Simon Bodek Ernest Butler Luke Chen John Drago Himanshu Goel Anna Hackett G. Michael Halmagyi Andrew Hannaford Katya Kotschet Kishore R. Kumar Smitha Kumble Matthew Lee-Archer Abhishek Malhotra Mark Paine Michael Poon Kate Pope Katrina Reardon Steven Ring Anne Ronan Matthew Silsby Renee Smyth Chloe Stutterd Mathew Wallis John Waterston Thomas Wellings Kirsty West Christine Wools Kathy H.C. Wu
  • ... [+33 authors] ...,
  • David J. Szmulewicz
  • Martin B. Delatycki
  • Melanie Bahlo
  • Paul J. Lockhart
  • First Published February 27, 2025
Resource

Precision environmental health monitoring by longitudinal exposome and multi-omics profiling

  • Peng Gao
  • Xiaotao Shen
  • Xinyue Zhang
  • Chao Jiang
  • Sai Zhang
  • Xin Zhou
  • Sophia Miryam Schüssler-Fiorenza Rose
  • Michael Snyder
  • First Published June 6, 2022
In memoriam

C. Thomas Caskey (1938–2022)

  • Richard A. Gibbs
  • Aravinda Chakravarti
  • Evan E. Eichler
  • Eric D. Green
  • Richard M. Myers
  • Anne C. Ferguson-Smith
  • Kateryna D. Makova
  • Hillary E. Sussman
  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • Aravinda Chakravarti
  • Evan E. Eichler
  • Richard A. Gibbs
  • Eric D. Green
  • Richard M. Myers
  • Hillary E. Sussman
  • First Published January 24, 2022
Research

RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

  • Sumantra Chatterjee
  • Kameko M. Karasaki
  • Lauren E. Fries
  • Ashish Kapoor
  • Aravinda Chakravarti
  • First Published November 15, 2021
Method

Sequence-based correction of barcode bias in massively parallel reporter assays

  • Dongwon Lee
  • Ashish Kapoor
  • Changhee Lee
  • Michael Mudgett
  • Michael A. Beer
  • Aravinda Chakravarti
  • First Published July 20, 2021
Method

cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants" > Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

  • Dongwon Lee
  • Ashish Kapoor
  • Alexias Safi
  • Lingyun Song
  • Marc K. Halushka
  • Gregory E. Crawford
  • Aravinda Chakravarti
  • First Published August 23, 2018
Method

Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome

  • Hagen Tilgner
  • Fereshteh Jahanbani
  • Ishaan Gupta
  • Paul Collier
  • Eric Wei
  • Morten Rasmussen
  • Michael Snyder
  • First Published December 1, 2017
Resource

Annotation of functional variation in personal genomes using RegulomeDB

  • Alan P. Boyle
  • Eurie L. Hong
  • Manoj Hariharan
  • Yong Cheng
  • Marc A. Schaub
  • Maya Kasowski Konrad J. Karczewski Julie Park
  • ... [+3 authors] ...,
  • Benjamin C. Hitz
  • Shuai Weng
  • J. Michael Cherry
  • Michael Snyder
  • First Published September 5, 2012
Resource

Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors

  • Jie Wang
  • Jiali Zhuang
  • Sowmya Iyer
  • XinYing Lin
  • Troy W. Whitfield
  • Melissa C. Greven Brian G. Pierce Xianjun Dong Anshul Kundaje Yong Cheng Oliver J. Rando Ewan Birney
  • ... [+7 authors] ...,
  • Richard M. Myers
  • William S. Noble
  • Michael Snyder
  • Zhiping Weng
  • First Published September 5, 2012
Show per page