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Laura T Jiménez-Barrón
Laura T Jiménez-Barrón
Cold Spring Harbor Laboratory, National Autonomous University of Mexico, Max Planck Institute of
Verified email at cshl.edu
Title
Cited by
Cited by
Year
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
1912014
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
1232015
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
1092015
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, 1-16, 2017
212017
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
92015
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, LT Jimenez Barrón, J Swensen, H Fang, ...
bioRxiv, 014050, 2015
72015
Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med. 6, 89
H Fang, Y Wu, G Narzisi, JA O’Rawe, LT Barron, J Rosenbaum, ...
52014
Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med. 2014; 6: 89
H Fang, Y Wu, G Narzisi, JA O’Rawe, LT Barron, J Rosenbaum
5
Human-specific enrichment of schizophrenia risk-genes in callosal neurons of the developing neocortex
E Zuccaro, V Murek, K Kim, HH Chen, S Mancinelli, P Oyler-Castrillo, ...
BioRxiv, 2021.09. 10.459747, 2021
42021
Massively parallel functional dissection of schizophrenia-associated noncoding genetic variants
CK Rummel, M Gagliardi, R Ahmad, A Herholt, L Jimenez-Barron, ...
Cell 186 (23), 5165-5182. e33, 2023
22023
Cell type and condition specific functional annotation of schizophrenia associated non-coding genetic variants
CK Rummel, M Gagliardi, A Herholt, R Ahmad, V Murek, L Weigert, ...
bioRxiv, 2023
12023
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
12017
Polygenic risk for schizophrenia converges on alternative polyadenylation as molecular mechanism underlying synaptic impairment
FJ Raabe, A Hausruckinger, M Gagliardi, R Ahmad, V Almeida, S Galinski, ...
bioRxiv, 2024.01. 09.574815, 2024
2024
Distinct genetic liability profiles define clinically relevant patient strata across common diseases
L Trastulla, S Moser, LT Jiménez-Barrón, TFM Andlauer, M von Scheidt, ...
medRxiv, 2023
2023
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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Articles 1–20