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Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma

Human reproduction update, 2020-04, Vol.26 (3), p.313-334

2020

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LNCipedia: a database for annotated human lncRNA transcript sequences and structures

Nucleic acids research, 2013-01, Vol.41 (Database issue), p.D246

2013

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Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients

Clinical cancer research, 2017-10, Vol.23 (20), p.6305-6314

2017

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A link between host plant adaptation and pesticide resistance in the polyphagous spider mite Tetranychus urticae

Proceedings of the National Academy of Sciences - PNAS, 2013-01, Vol.110 (2), p.E113-122

2013

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WisecondorX: improved copy number detection for routine shallow whole-genome sequencing

Nucleic acids research, 2019-02, Vol.47 (4), p.1605

2019

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Alternative Routes to Induce Naïve Pluripotency in Human Embryonic Stem Cells

Stem cells (Dayton, Ohio), 2015-09, Vol.33 (9), p.2686-2698

2015

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Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts

Fertility and sterility, 2015-11, Vol.104 (5), p.1276-1285.e1

2015

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BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

Scientific reports, 2016-07, Vol.6 (1), p.30330, Article 30330

2016

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Myxoid pleomorphic liposarcoma—a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma

Modern pathology, 2021-11, Vol.34 (11), p.2043-2049

2021

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Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India

The Cleft palate-craniofacial journal, 2022-11, Vol.59 (11), p.1346-1351

2022

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Comparative analysis of naive, primed and ground state pluripotency in mouse embryonic stem cells originating from the same genetic background

Scientific reports, 2018-04, Vol.8 (1), p.5884-11, Article 5884

2018

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Identification of long non-coding RNAs involved in neuronal development and intellectual disability

Scientific reports, 2016-06, Vol.6 (1), p.28396-28396, Article 28396

2016

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Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis: a standardized approach with underappreciated potential

Haematologica (Roma), 2022-01, Vol.107 (1), p.211

2022

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Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI

Journal of assisted reproduction and genetics, 2022-03, Vol.39 (3), p.609-618

2022

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Low feasibility of in vitro matured oocytes originating from cumulus complexes found during ovarian tissue preparation at the moment of gender confirmation surgery and during testosterone treatment for fertility preservation in transgender men

Fertility and sterility, 2021-10, Vol.116 (4), p.1068-1076

2021

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Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

Cell reports (Cambridge), 2012-06, Vol.1 (6), p.648-655

2012

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Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage

Fertility and sterility, 2017-01, Vol.107 (1), p.212-219.e3

2017

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

PLoS genetics, 2013-03, Vol.9 (3), p.e1003358

2013

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Shallow whole-genome sequencing of plasma cell-free DNA accurately differentiates small from non-small cell lung carcinoma

Genome medicine, 2020-04, Vol.12 (1), p.35-12, Article 35

2020

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ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation

PloS one, 2014-12, Vol.9 (12), p.e113800-e113800

2014

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Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Stem cell research, 2023-03, Vol.67, p.103036-103036, Article 103036

2023

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PREFACE: In silico pipeline for accurate cell‐free fetal DNA fraction prediction

Prenatal diagnosis, 2019-09, Vol.39 (10), p.925-933

2019

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Activin A‐derived human embryonic stem cells show increased competence to differentiate into primordial germ cell‐like cells

Stem cells (Dayton, Ohio), 2021-05, Vol.39 (5), p.551-563

2021

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Single-cell profiling identifies a novel human polyclonal unconventional T cell lineage

The Journal of experimental medicine, 2023-06, Vol.220 (6)

2023

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Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma

LNCipedia: a database for annotated human lncRNA transcript sequences and structures

Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients

A link between host plant adaptation and pesticide resistance in the polyphagous spider mite Tetranychus urticae

WisecondorX: improved copy number detection for routine shallow whole-genome sequencing

Alternative Routes to Induce Naïve Pluripotency in Human Embryonic Stem Cells

Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

Myxoid pleomorphic liposarcoma—a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma

Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India

Comparative analysis of naive, primed and ground state pluripotency in mouse embryonic stem cells originating from the same genetic background

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis: a standardized approach with underappreciated potential

Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI

Low feasibility of in vitro matured oocytes originating from cumulus complexes found during ovarian tissue preparation at the moment of gender confirmation surgery and during testosterone treatment for fertility preservation in transgender men

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

Shallow whole-genome sequencing of plasma cell-free DNA accurately differentiates small from non-small cell lung carcinoma

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

PREFACE: In silico pipeline for accurate cell‐free fetal DNA fraction prediction

Activin A‐derived human embryonic stem cells show increased competence to differentiate into primordial germ cell‐like cells

Single-cell profiling identifies a novel human polyclonal unconventional T cell lineage

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