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Evolutionary and functional impact of common polymorphic inversions in the human genome

Nature communications, 2019-09, Vol.10 (1), p.4222-14, Article 4222

2019

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Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence

PLoS genetics, 2014-03, Vol.10 (3), p.e1004208

2014

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Identification of copy number variants defining genomic differences among major human groups

PloS one, 2009-09, Vol.4 (9), p.e7230-e7230

2009

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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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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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Human inversions and their functional consequences

Briefings in functional genomics, 2015-09, Vol.14 (5), p.369-379

2015

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Optimizing ctDNA: An Updated Review of a Promising Clinical Tool for the Management of Uveal Melanoma

Cancers, 2024-09, Vol.16 (17), p.3053

2024

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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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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Nature (London), 2011-10, Vol.478 (7367), p.97-102

2011

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Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system

Pain (Amsterdam), 2014-06, Vol.155 (6), p.1102-1109

2014

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Abstract 3643: Utility of peritoneal and pleural lavages for detection of somatic alterations: A proof-of-concept study

Cancer research (Chicago, Ill.), 2018-07, Vol.78 (13_Supplement), p.3643-3643

2018

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Liquid Biopsy in Non-Small Cell Lung Cancer

Frontiers in medicine, 2016-12, Vol.3, p.69-69

2016

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KRAS mutations in the circulating free DNA (cfDNA) of non-small cell lung cancer (NSCLC) patients

Translational lung cancer research, 2016-10, Vol.5 (5), p.511-516

2016

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Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence: e1004208

PLoS genetics, 2014-03, Vol.10 (3)

2014

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Prospective analysis of liquid biopsies of advanced non-small cell lung cancer patients after progression to targeted therapies using GeneReader NGS platform

Translational cancer research, 2019-01, Vol.8 (Suppl 1), p.S3-S15

2019

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Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.343-348

2009

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Síndrome de Prader Willi: estudio de 77 pacientes

Medicina clínica, 2009-11, Vol.133 (17), p.649-656

2009

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Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.343-348

2009

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Imprinting center analysis in Prader–Willi and Angelman syndrome patients with typical and atypical phenotypes

European journal of medical genetics, 2007-01, Vol.50 (1), p.11-20

2007

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Prader Willi syndrome patients: study of 77 patients

Medicina clínica, 2009-11, Vol.133 (17), p.649-656

2009

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Human inversions and their functional consequences

Briefings in functional genomics & proteomics, 2015-09, Vol.14 (5), p.369

2015

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A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

BMC genetics, 2013-07, Vol.14 (1), p.61, Article 61

2013

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Bariatric surgery improves metabolic and nonalcoholic fatty liver disease markers in metabolically healthy patients with morbid obesity at 5 years

Surgery for obesity and related diseases, 2021-12, Vol.17 (12), p.2047-2053

2021

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Evolutionary and functional impact of common polymorphic inversions in the human genome

Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence

Identification of copy number variants defining genomic differences among major human groups

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

ProSeeK: a web server for MLPA probe design

Human inversions and their functional consequences

Optimizing ctDNA: An Updated Review of a Promising Clinical Tool for the Management of Uveal Melanoma

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

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system

Abstract 3643: Utility of peritoneal and pleural lavages for detection of somatic alterations: A proof-of-concept study

Liquid Biopsy in Non-Small Cell Lung Cancer

KRAS mutations in the circulating free DNA (cfDNA) of non-small cell lung cancer (NSCLC) patients

Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence: e1004208

Prospective analysis of liquid biopsies of advanced non-small cell lung cancer patients after progression to targeted therapies using GeneReader NGS platform

Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

Síndrome de Prader Willi: estudio de 77 pacientes

Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

Imprinting center analysis in Prader–Willi and Angelman syndrome patients with typical and atypical phenotypes

Prader Willi syndrome patients: study of 77 patients

Human inversions and their functional consequences

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

Association of Time of Day With Outcomes Among Patients Triaged for a Suspected Severe Stroke in Nonurban Catalonia

Bariatric surgery improves metabolic and nonalcoholic fatty liver disease markers in metabolically healthy patients with morbid obesity at 5 years

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