Lista de obras -

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

scientific article published on 01 April 2020

Characterization of an Additional Splice Acceptor Site Introduced into CYP4B1 in Hominoidae during Evolution

artículo científico publicado en 2015

Current status and new features of the Consensus Coding Sequence database

artículo científico publicado en 2014

DNA sequence and analysis of human chromosome 9

artículo científico publicado en 2004

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

artículo científico publicado en 2006

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

artículo científico publicado en 2016

Fine mapping of type 1 diabetes regions Idd9.1 and Idd9.2 reveals genetic complexity.

artículo científico publicado en 2013

GENCODE: the reference human genome annotation for The ENCODE Project

artículo científico publicado en 2012

Genome annotation for clinical genomic diagnostics: strengths and weaknesses

artículo científico publicado en 2017

Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy

artículo científico publicado en 2018

Identification of the inflammasome Nlrp1b as the candidate gene conferring diabetes risk at the Idd4.1 locus in the nonobese diabetic mouse

artículo científico publicado en 2015

Mouse genomic variation and its effect on phenotypes and gene regulation

artículo científico publicado en 2011

Nonobese diabetic congenic strain analysis of autoimmune diabetes reveals genetic complexity of the Idd18 locus and identifies Vav3 as a candidate gene.

artículo científico publicado en 2010

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

artículo científico publicado en 2019

Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

scientific article published on 01 October 2018

The B10 Idd9.3 locus mediates accumulation of functionally superior CD137(+) regulatory T cells in the nonobese diabetic type 1 diabetes model.

artículo científico publicado en 2012

The DNA sequence and analysis of human chromosome 13

artículo científico publicado en 2004

The DNA sequence and analysis of human chromosome 6

artículo científico publicado en 2003

The DNA sequence and biological annotation of human chromosome