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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

Unbiased analysis of potential targets of breast cancer susceptibility loci by Capture Hi-C

  • Nicola H. Dryden
  • Laura R. Broome
  • Frank Dudbridge
  • Nichola Johnson
  • Nick Orr
  • Stefan Schoenfelder Takashi Nagano Simon Andrews Steven Wingett Iwanka Kozarewa Ioannis Assiotis Kerry Fenwick Sarah L. Maguire James Campbell Rachael Natrajan Maryou Lambros
  • ... [+11 authors] ...,
  • Eleni Perrakis
  • Alan Ashworth
  • Peter Fraser
  • Olivia Fletcher
  • First Published August 13, 2014
Research

Whole genome sequencing of matched primary and metastatic acral melanomas

  • Samra Turajlic
  • Simon J. Furney
  • Maryou B. Lambros
  • Costas Mitsopoulos
  • Iwanka Kozarewa
  • Felipe C. Geyer Alan MacKay Jarle Hakas Marketa Zvelebil Christopher J. Lord Alan Ashworth Meirion Thomas
  • ... [+7 authors] ...,
  • Gordon Stamp
  • James Larkin
  • Jorge S. Reis-Filho
  • Richard Marais
  • First Published December 19, 2011
Insight/Outlook

Genomic contributions to Mendelian disease

  • Aravinda Chakravarti
  • First Published May 2, 2011
LETTER

Human embryonic stem cells have a unique epigenetic signature

  • Marina Bibikova
  • Eugene Chudin
  • Bonnie Wu
  • Lixin Zhou
  • Eliza Wickham Garcia
  • Ying Liu Soojung Shin Todd W. Plaia Jonathan M. Auerbach Dan E. Arking Rodolfo Gonzalez Jeremy Crook Bruce Davidson Thomas C. Schulz Allan Robins Aparna Khanna Peter Sartipy Johan Hyllner Padmavathy Vanguri Smita Savant-Bhonsale Alan K. Smith Aravinda Chakravarti Anirban Maitra
  • ... [+18 authors] ...,
  • Mahendra Rao
  • David L. Barker
  • Jeanne F. Loring
  • Jian-Bing Fan
  • First Published August 9, 2006
Methods

On the probability that a novel variant is a disease-causing mutation

  • Adele A. Mitchell
  • Aravinda Chakravarti
  • David J. Cutler
  • First Published June 17, 2005
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