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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
Research

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

  • M. Reza Sailani
  • Periklis Makrythanasis
  • Armand Valsesia
  • Federico A. Santoni
  • Samuel Deutsch
  • Konstantin Popadin Christelle Borel Eugenia Migliavacca Andrew J. Sharp Genevieve Duriaux Sail Emilie Falconnet Kelly Rabionet Clara Serra-Juhé Stefano Vicari Daniela Laux Yann Grattau Guy Dembour Andre Megarbane Renaud Touraine Samantha Stora Sofia Kitsiou Helena Fryssira Chariklia Chatzisevastou-Loukidou Emmanouel Kanavakis Giuseppe Merla Damien Bonnet
  • ... [+21 authors] ...,
  • Luis A. Pérez-Jurado
  • Xavier Estivill
  • Jean M. Delabar
  • Stylianos E. Antonarakis
  • First Published June 19, 2013
Research

Global DNA hypomethylation coupled to repressive chromatin domain formation and gene silencing in breast cancer

  • Gary C. Hon
  • R. David Hawkins
  • Otavia L. Caballero
  • Christine Lo
  • Ryan Lister
  • Mattia Pelizzola Armand Valsesia Zhen Ye Samantha Kuan Lee E. Edsall Anamaria Aranha Camargo Brian J. Stevenson Joseph R. Ecker
  • ... [+8 authors] ...,
  • Vineet Bafna
  • Robert L. Strausberg
  • Andrew J. Simpson
  • Bing Ren
  • First Published December 7, 2011
Insight/Outlook

Genomic contributions to Mendelian disease

  • Aravinda Chakravarti
  • First Published May 2, 2011
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
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
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