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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

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

  • Przemyslaw Szafranski
  • Avinash V. Dharmadhikari
  • Erwin Brosens
  • Priyatansh Gurha
  • Katarzyna E. Kołodziejska
  • Ou Zhishuo Piotr Dittwald Tadeusz Majewski K. Naga Mohan Bo Chen Richard E. Person Dick Tibboel Annelies de Klein Jason Pinner Maya Chopra Girvan Malcolm Gregory Peters Susan Arbuckle Sixto F. Guiang Virginia A. Hustead Jose Jessurun Russel Hirsch David P. Witte Isabelle Maystadt Neil Sebire
  • ... [+20 authors] ...,
  • Richard Fisher
  • Claire Langston
  • Partha Sen
  • Paweł Stankiewicz
  • First Published October 3, 2012
Insight/Outlook

Genomic contributions to Mendelian disease

  • Aravinda Chakravarti
  • First Published May 2, 2011
Research

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

  • Zhishuo Ou
  • Paweł Stankiewicz
  • Zhilian Xia
  • Amy M. Breman
  • Brian Dawson
  • Joanna Wiszniewska Przemyslaw Szafranski M. Lance Cooper Mitchell Rao Lina Shao Sarah T. South Karlene Coleman Paul M. Fernhoff Marcel J. Deray Sally Rosengren Elizabeth R. Roeder Victoria B. Enciso A. Craig Chinault Ankita Patel
  • ... [+14 authors] ...,
  • Sung-Hae L. Kang
  • Chad A. Shaw
  • James R. Lupski
  • Sau W. Cheung
  • First Published January 4, 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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