Laura T Jiménez-Barrón
Laura T Jiménez-Barrón
Cold Spring Harbor Laboratory, National Autonomous University of Mexico, Max Planck Institute of
Підтверджена електронна адреса в cshl.edu
Назва
Посилання
Посилання
Рік
Reducing INDEL calling errors in whole genome and exome sequencing data
H Fang, Y Wu, G Narzisi, JA O'Rawe, LTJ Barrón, J Rosenbaum, ...
Genome Med 6 (10), 89, 2014
1492014
TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ...
The American Journal of Human Genetics 97 (6), 922-932, 2015
732015
Indel variant analysis of short-read sequencing data with Scalpel
H Fang, EA Grabowska, K Arora, V Vacic, MC Zody, I Iossifov, JA ORawe, ...
Nature Protocols, 028050, 2015
672015
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine
H Fang, Y Wu, H Yang, M Yoon, LT Jiménez-Barrón, D Mittelman, ...
BMC medical genomics 10 (1), 1-16, 2017
152017
Building genomic analysis pipelines in a hackathon setting with bioinformatician teams: DNA-seq, epigenomics, metagenomics and RNA-seq
B Busby, A Dillman, CL Simpson, I Fingerman, S Yun, DM Kristensen, ...
BioRxiv, 018085, 2015
72015
A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features
J Ou’Rawe, Y Wu, A Rope, LTJ Barrón, J Swensen, H Fang, D Mittelman, ...
BioRxiv, 014050, 2015
62015
Genome Wide Variant Analysis of Simplex Autism Families with an Integrative Clinical-Bioinformatics Pipeline
LT Jiménez-Barrón, JA O'Rawe, Y Wu, M Yoon, H Fang, I Iossifov, G Lyon
bioRxiv, 019208, 2015
52015
HadoopCNV: A dynamic programming imputation algorithm to detect copy number variants from sequencing data
H Yang, G Chen, L Lima, H Fang, L Jimenez, M Li, GJ Lyon, M He, ...
bioRxiv, 124339, 2017
2017
Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms
H Fang, Y Wu, M Yoon, LT Jiménez-Barrón, JA O’Rawe, G Highnam, ...
BioRxiv, 019182, 2015
2015
Variant Analysis of Simplex Autism Families
L Jimenez Barron, GJ Lyon
2014
Genome Wide Variant Analysis of families with Autism Spectrum Disorder (ASD) using an Integrative Bioinformatics Pipeline
L Jimenez Barron, GJ Lyon
2014
A rare genetic" transcriptomopathy" syndrome leading to insights into more common neurologic disorders
JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ...
Comprehensive whole genome sequencing of a three generation pedigree: genetic components of a new syndrome with Severe Developmental Delay and Dysmorphic Features
JA O'Rawe, Y Wu, A Rope, LTJ Barrón, D Mittelman, G Highnam, H Fang, ...
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