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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

  • Jesper Eisfeldt
  • Adam Ameur
  • Felix Lenner
  • Esmee Ten Berk de Boer
  • Marlene Ek
  • Josephine Wincent Raquel Vaz Jesper Ottosson Tord Jonson Sofie Ivarsson Sofia Thunström Alexandra Topa Simon Stenberg Anna Rohlin Anna Sandestig Margareta Nordling Pia Palmebäck Magnus Burstedt Frida Nordin Eva-Lena Stattin Maria Sobol Panagiotis Baliakas Marie-Louise Bondeson Ida Höijer Kristine Bilgrav Saether Lovisa Lovmar
  • ... [+21 authors] ...,
  • Hans Ehrencrona
  • Malin Melin
  • Lars Feuk
  • Anna Lindstrand
  • First Published October 29, 2024

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

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

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

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

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

Genomic contributions to Mendelian disease

  • Aravinda Chakravarti
  • First Published May 2, 2011

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

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

Haplotype and Missing Data Inference in Nuclear Families

  • Shin Lin
  • Aravinda Chakravarti
  • David J. Cutler
  • First Published July 15, 2004
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