Karin V Fuentes Fajardo
Overview
Explore the profile of Karin V Fuentes Fajardo including associated specialties, affiliations and a list of published articles.
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5
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2030
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Recent Articles
1.
Brandler W, Antaki D, Gujral M, Noor A, Rosanio G, Chapman T, et al.
Am J Hum Genet
. 2016 Mar;
98(4):667-79.
PMID: 27018473
Genetic studies of autism spectrum disorder (ASD) have established that de novo duplications and deletions contribute to risk. However, ascertainment of structural variants (SVs) has been restricted by the coarse...
2.
Yuan H, Hansen K, Zhang J, Pierson T, Markello T, Fajardo K, et al.
Nat Commun
. 2014 Feb;
5:3251.
PMID: 24504326
NMDA receptors (NMDARs), ligand-gated ion channels, play important roles in various neurological disorders, including epilepsy. Here we show the functional analysis of a de novo missense mutation (L812M) in a...
3.
Fajardo K, Adams D, Mason C, Sincan M, Tifft C, Toro C, et al.
Hum Mutat
. 2012 Feb;
33(4):609-13.
PMID: 22294350
Disease gene discovery has been transformed by affordable sequencing of exomes and genomes. Identification of disease-causing mutations requires sifting through a large number of sequence variants. A subset of the...
4.
Ajay S, Parker S, Abaan H, Fajardo K, Margulies E
Genome Res
. 2011 Jul;
21(9):1498-505.
PMID: 21771779
As whole-genome sequencing becomes commoditized and we begin to sequence and analyze personal genomes for clinical and diagnostic purposes, it is necessary to understand what constitutes a complete sequencing experiment...
5.
Bentley D, Balasubramanian S, Swerdlow H, Smith G, Milton J, Brown C, et al.
Nature
. 2008 Nov;
456(7218):53-9.
PMID: 18987734
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400-800 base pair) reads, but the existence of reference sequences...