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Your search for returned 23 results

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

Susan M. Hiatt
James M.J. Lawlor
Lori H. Handley
Donald R. Latner
Zachary T. Bonnstetter
Candice R. Finnila Michelle L. Thompson Lori Beth Boston Melissa Williams Ivan Rodriguez Nunez Jerry Jenkins Whitley V. Kelley E. Martina Bebin Michael A. Lopez Anna C.E. Hurst
... [+10 authors] ...,
Bruce R. Korf
Jeremy Schmutz
Jane Grimwood
Gregory M. Cooper

First Published September 19, 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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