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MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

Scientific reports, 2021-01, Vol.11 (1), p.1583-1583, Article 1583

2021

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Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

Scientific reports, 2021-04, Vol.11 (1), p.8237-8237, Article 8237

2021

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A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

BMC bioinformatics, 2011-05, Vol.12 (1), p.166-166, Article 166

2011

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Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.201-201, Article 201

2023

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Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies

PLoS genetics, 2007-10, Vol.3 (10), p.1787-1799

2007

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Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

Human molecular genetics, 2003-09, Vol.12 (17), p.2201-2208

2003

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Autofluorescence and Diagnostic Accuracy of Lesions of Oral Mucosa: A Pilot Study

Brazilian Dental Journal, 2015-12, Vol.26 (6), p.580-586

2015

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SNPassoc: an R package to perform whole genome association studies

Bioinformatics, 2007-03, Vol.23 (5), p.654-655

2007

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Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

Human molecular genetics, 2003-04, Vol.12 (8), p.849-858

2003

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Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)

BMC bioinformatics, 2008-06, Vol.9 (1), p.261-261, Article 261

2008

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BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

BMC medical genetics, 2009-12, Vol.10 (1), p.144-144, Article 144

2009

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NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

Human mutation, 2016-06, Vol.37 (6), p.516-523

2016

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MLPAstats: an R GUI package for the integrated analysis of copy number alterations using MLPA data

BMC bioinformatics, 2011-05, Vol.12 (1), p.147-147, Article 147

2011

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Accounting for uncertainty when assessing association between copy number and disease: a latent class model

BMC bioinformatics, 2009-06, Vol.10 (172), p.172-172, Article 172

2009

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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

International journal of molecular sciences, 2023-09, Vol.24 (18), p.13699

2023

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Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

American journal of human genetics, 2010-07, Vol.87 (1), p.129-138

2010

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Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling

Blood, 2009-03, Vol.113 (13), p.3059-3069

2009

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ProSeeK: a web server for MLPA probe design

BMC genomics, 2008-11, Vol.9 (1), p.573-573, Article 573

2008

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GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

Nucleic acids research, 2022-03, Vol.50 (5), p.2464-2479

2022

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Hepatic accumulation of S-adenosylmethionine in hamsters with non-alcoholic fatty liver disease associated with metabolic syndrome under selenium and vitamin E deficiency

Clinical science (1979), 2019-02, Vol.133 (3), p.409-423

2019

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Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

Human genetics, 2012-03, Vol.131 (3), p.513-523

2012

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Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility

BMC genomics, 2008-01, Vol.9 (1), p.12-12, Article 12

2008

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Maximizing association statistics over genetic models

Genetic epidemiology, 2008-04, Vol.32 (3), p.246-254

2008

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High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

Behavior genetics, 2018-07, Vol.48 (4), p.323-336

2018

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MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

Autofluorescence and Diagnostic Accuracy of Lesions of Oral Mucosa: A Pilot Study

SNPassoc: an R package to perform whole genome association studies

Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

MLPAstats: an R GUI package for the integrated analysis of copy number alterations using MLPA data

Accounting for uncertainty when assessing association between copy number and disease: a latent class model

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling

ProSeeK: a web server for MLPA probe design

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

Hepatic accumulation of S-adenosylmethionine in hamsters with non-alcoholic fatty liver disease associated with metabolic syndrome under selenium and vitamin E deficiency

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility

Maximizing association statistics over genetic models

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

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