Filter results by:
Publication date
Include options

Your search for returned 49 results

Order by:
Show per page
Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

  • First Published April 15, 2025
Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

  • First Published March 31, 2022
In memoriam

Haig H. Kazazian, Jr. (1937–2022)

  • First Published March 21, 2022
Method

Copolymerization of single-cell nucleic acids into balls of acrylamide gel

  • First Published November 14, 2019
Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

  • First Published December 13, 2017
Method

SMASH, a fragmentation and sequencing method for genomic copy number analysis

  • First Published April 14, 2016
Research

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

  • First Published January 11, 2016
Method

Read clouds uncover variation in complex regions of the human genome

  • First Published August 18, 2015
Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

  • First Published April 27, 2015
Method

Optimizing sparse sequencing of single cells for highly multiplex copy number profiling

  • First Published April 9, 2015
Show per page