prof. dr. ir. Björn Menten
- ORCID iD
- 0000-0001-8182-659X
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- Journal Article
- open access
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
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- Journal Article
- A1
- open access
Pronuclear transfer rescues poor embryo development of in vitro-grown secondary mouse follicles
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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
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Implicit bias in diagnosing mosaicism amongst preimplantation genetic testing providers : results from a multicenter study of 36 395 blastocysts
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Inherited pathogenic variants in neurodevelopmental disorders: a potential pitfall in triobased analysis of clinical exomes
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- Journal Article
- open access
Valuable insights after one year whole exome sequencing in a fetal/prenatal setting
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Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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- Conference Paper
- C3
- open access
Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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Long-read sequencing enables full characterization of previously unresolved structural variation
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- Conference Paper
- C3
- open access
Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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Structural variants disrupt a critical regulatory region downstream of FOXG1
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.28-28 -
Effect of biphasic CAPA-IVM on ovarian tissue oocytes of transgender men
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- Journal Article
- A1
- open access
Retained chromosomal integrity following CRISPR-Cas9-based mutational correction in human embryos
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- Journal Article
- A1
- open access
Characterization of ovarian tissue oocytes from transgender men reveals poor calcium release and embryo development, which might be overcome by spindle transfer
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- Journal Article
- A1
- open access
Single-cell profiling identifies a novel human polyclonal unconventional T cell lineage
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- Journal Article
- A1
- open access
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
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Spindle transfer rescues poor embryo development of in vitro matured ovarian tissue oocytes from transgender men
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Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
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Long-read sequencing resolves cryptic structural variation in patients with syndromic intellectual disability
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Benchmarking of long read structural variant callers using Oxford Nanopore data
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GENType : all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction
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Evaluation of CRISPR/Cas9-induced DNA break repair outcomes in mouse and human embryos
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Comparison of the positivity rate of anti-spike and anti-nucleocapsid SARS-CoV-2 IgG in asymptomatic pregnant women
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45 -
Distinct genetic impact of CRISPR/Cas9 gene correction in human embryos compared to induced pluripotent stem cells
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Benchmarking of long-read structural variant callers using in-house generated Oxford Nanopore data
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Benchmarking of long-read structural variant callers using Oxford Nanopore data
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Benchmarking of long-read structural variant callers using Oxford Nanopore data
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- Conference Paper
- C3
- open access
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene
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The adrenergic-specific long non-coding RNA NESPR controls survival of neuroblastoma cells
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TEAD4 regulates trophectoderm differentiation upstream of CDX2 in a GATA3-independent manner in the human preimplantation embryo
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Luminescent human iPSC-derived neurospheroids enable modeling of neurotoxicity after oxygen-glucose deprivation
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- Journal Article
- A1
- open access
Application of an ultrasensitive NGS-based blood test for the diagnosis of early-stage lung cancer : sensitivity, a hurdle still difficult to overcome
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- Journal Article
- A1
- open access
Expanding the phenotype of B3GALNT2-related disorders
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CRISPR/Cas gene editing in the human germline
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- Journal Article
- A2
- open access
Pushing the boundaries : concurrent Hodgkin lymphoma and breast cancer treatment with preservation of pregnancy : a case report
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- Miscellaneous
- open access
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
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Shallow whole-genome sequencing : a useful, easy to apply molecular technique for CNA detection on FFPE tumor tissue : a glioma-driven study
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Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI
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- Journal Article
- A1
- open access
Small-scale manufacturing of neoantigen-encoding messenger RNA for early-phase clinical trials
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MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
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- Journal Article
- A1
- open access
The feasibility of using liquid biopsies as a complementary assay for copy number aberration profiling in routinely collected paediatric cancer patient samples
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Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India
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- Journal Article
- A1
- open access
Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis : a standardized approach with underappreciated potential
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TEAD4 regulates trophectoderm differentiation upstream of CDX2 in human preimplantation embryos
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Calcium analysis and embryonic development of in vitro matured oocytes from transgender men
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Structural variants disrupt a critical regulatory region downstream of FOXG1
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Correcting a PLCζ mutation in the human germ line to overcome hereditary infertility
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Benchmarking of long-read structural variant callers on a recently released truth set using Oxford Nanopore data
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Benchmarking of long-read structural variant callers on a recently released truth set using Oxford Nanopore data
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- Journal Article
- A1
- open access
A reassessment of copy number variations in congenital heart defects : picturing the whole genome
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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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
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
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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
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- Journal Article
- A1
- open access
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
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SOX11 as guardian of epigenetic plasticity in neuroblastoma
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- Journal Article
- A1
- open access
Activin A-derived human embryonic stem cells show increased competence to differentiate into primordial germ cell-like cells
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Comparative analysis of mouse and human preimplantation development following POU5F1 CRISPR/Cas9 targeting reveals interspecies differences
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Recurrent chromosomal imbalances provide selective advantage to human embryonic stem cells under enhanced replicative stress conditions
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Shallow whole-genome sequencing of cell-free DNA for B-cell lymphoma diagnosis and disease monitoring: a standardized approach with underappreciated potential
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Shallow whole-genome sequencing of cell-free DNA for B-cell lymphoma diagnosis and disease monitoring : a standardized approach with underappreciated potential
(2020) -
A proof-of-concept study to investigate DNA repair mechanisms in the human embryo after the application of CRISPR/Cas9 gene editing in the germ line
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Mechanistic dissection of chromatin topology disruption in the 5q14.3 MEF2C locus as an indirect driver of neurodevelopmental disorders
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Chromosomal mosaicism in human blastocysts : the ultimate diagnostic dilemma (vol 26, pg 313, 2020)
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Prenatally detected copy number variants in a national cohort : a postnatal follow-up study
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Germline nuclear transfer in mice may rescue poor embryo development associated with advanced maternal age and early embryo arrest
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Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
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Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
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Correcting PLCζ mutation in the germ line to overcome transmission of hereditary infertility in mice
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Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing
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Chromosomal mosaicism in human blastocysts : the ultimate diagnostic dilemma
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- Journal Article
- A1
- open access
Shallow whole-genome sequencing of plasma cell-free DNA accurately differentiates small from non-small cell lung carcinoma
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- Journal Article
- A1
- open access
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism
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Long noncoding RNA SILC1 is an upstream regulator of SOX11 in neuroblastoma
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Detection of copy number alterations by shallow whole-genome sequencing of formalin-fixed, paraffin-embedded tumor tissue
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Exploring the potential of shallow whole-genome sequencing for diagnosis and disease monitoring of lymphoma in liquid biopsy
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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
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Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsy
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Clinical experience with shallow whole genome sequencing as a detection method for Copy Number Variations
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Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab
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Preimplantation genetic diagnosis for chromosomal rearrangements using shallow whole genome sequencing at the blastocyst stage
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Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities
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PCR based target enrichment for variant confirmation, gene panels and multiplex PCR sample tracking in a whole exome sequencing workflow
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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- Journal Article
- A1
- open access
Preface : in silico pipeline for accurate cell-free fetal DNA fraction prediction
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17q gain provides proliferative advantage to human embryonic stem cells under replicative stress
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17q gain provides proliferative advantage to human embryonic stem cells under conditions of replicative stress
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- Journal Article
- A1
- open access
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation
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- Journal Article
- A1
- open access
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia
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Noncoding structural variants disrupt the regulatory architecture of Rett genes
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Noncoding structural variants disrupt the regulatory architecture of Rett genes
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Shallow whole genome sequencing on circulating cell-free DNA in pediatric cancer patients
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SOX11 is a key epigenetic regulator in the adrenergic MYCN amplified neuroblastoma
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SOX11 as mediator of the adrenergic cell state in NB
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SOX11 is a key epigenetic regulator in the adrenergic MYCN amplified neuroblastoma
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WNT inhibition and increased fibroblast growth factor signaling promotes derivation of less heterogeneous primed human embryonic stem cells, compatible with differentiation
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Circulating cell-free DNA for response evaluation of intravascular lymphoma
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Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients
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Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients
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Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients
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Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients
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Successful copy number alteration profiling using circulating cell-free tumor DNA as a non-invasive alternative for tissue biopsies in pediatric cancer patients
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Shallow whole genome sequencing on circulating cell-free DNA in pediatric cancer patients
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Shallow whole genome sequencing on circulating cell-free DNA in pediatric cancer patients
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Two novel probands with Myhre syndrome identified through WES
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- Journal Article
- A1
- open access
WisecondorX : improved copy number detection for routine shallow whole-genome sequencing
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Exploring the contribution of gene dosage effects of 17q gain genes on hESC and neuroblastoma proliferation
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- Journal Article
- A1
- open access
A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics
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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
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- Miscellaneous
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)
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Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue
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Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue
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CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells
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CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells
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Shallow whole genome sequencing allows successful copy number profiling in formalin-fixed paraffin-embedded material in neuroblastoma patients
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
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- Conference Paper
- C3
- open access
Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients
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The neuroblastoma-specific lncRNA NESPR activates PHOX2B expression and is essential for neuroblastoma cell survival
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Exploring the contribution of gene dosage effects of 17q gain genes on hESC and neuroblastoma proliferation
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- Journal Article
- A1
- open access
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT
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A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics
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- Journal Article
- A1
- open access
PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia
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- Journal Article
- A2
- open access
Targeted genomic screen reveals focal long non-coding RNA copy number alterations in cancer cell lines
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SOX11 is a transcriptional circuit dosage sensitive transcription factor controlling SWI/SNF components
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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
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The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy
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Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ
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Chromosomal mosaicism in human blastocysts : the ultimate challenge of preimplantation genetic testing?
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- Conference Paper
- C3
- open access
Exploring the contribution of gene dosage effects of 17q gain on ESC and neuroblastoma proliferation
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Exploring the contribution of gene dosage effects of 17Q gain on ESC and neuroblastoma proliferation
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- Conference Paper
- C3
- open access
Exploring the contribution of gene dosage effects of 17q gain on ESC and neuroblastoma proliferation
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- Journal Article
- A1
- open access
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
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The MEF2C regulatory network is disrupted in patients with Rett-like characteristics
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The MEF2C regulatory network is disrupted in patients with Rett-like characteristics
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- Journal Article
- A1
- open access
Comparative analysis of naive, primed and ground state pluripotency in mouse embryonic stem cells originating from the same genetic background
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- Journal Article
- A2
- open access
The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease
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Comprehensive comparison of inner cell mass and trophectoderm reveals the complex nature of chromosomal mosaicism in human embryos
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NR4A2 causes an autism spectrum disorder
(2017) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. In European Journal of Paediatric Neurology 21(Supplement 1). p.e49-e49 -
Shallow whole genome sequencing on circulating cell-free DNA allows reliable non-invasive copy number profiling in neuroblastoma patients
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Pancreatic cancer : hope to improve prognosis through thorough analysis of DNA and RNA biomarkers for detection and therapy monitoring in liquid biopsies
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Fertility in Trans Persons
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SOX11 acts as part of the MYCN-WEE1 regulatory protein complex implicated in neuroblastoma
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SOX11 acts as part of the MYCN-WEE1 regulatory protein complex implicated in neuroblastoma
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Shallow whole genome sequencing on circulating cell-free DNA allows reliable noninvasive copy-number profiling in neuroblastoma patients
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- Journal Article
- A1
- open access
New insights into the phenotype of FARS2 deficiency
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Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability
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- Journal Article
- A1
- open access
CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells
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CRISPR/Cas9-mediated genome editing in naive human embryonic stem cells followed by neural differentiation : an optimized workflow
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
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FOXP1-related intellectual disability syndrome : a recognisable entity
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- Journal Article
- A1
- open access
Direct comparison of distinct naive pluripotent states in human embryonic stem cells
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- Journal Article
- A1
- open access
arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
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Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage
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Uncovering the novel role of mTORC2 subunit of the PI3K/AKT/mTORC pathway in establishing naive pluripotency in human embryonic stem cells
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Massive parallel sequencing uncovers chromosomal mosaicism in human embryonic stem cells in both primed and naive culture conditions
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Preimplantation genetic diagnosis (PGD) for translocation carriers using whole genome screening by microarray analysis at the blastocyst stage
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CRISPR-Cas9 modeling of cell lines and zebrafish to study the TLX1-PHF6 cooperative interrelationship in T-cell acute lymphoblastic leukemia
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Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
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CRISPR/Cas9-mediated genome editing in naive human embryonic stem cells : an optimized workflow
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Identification of long non-coding RNAs involved in neuronal development and intellectual disability
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Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1
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- Journal Article
- A1
- open access
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory
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RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome
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FOXP1-related intellectual disability syndrome : a recognizable entity
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- Journal Article
- A1
- open access
Performance of a TthPrimPol-based whole genome amplification kit for copy number alteration detection using massively parallel sequencing
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- Conference Paper
- C3
- open access
Development of a blood test for selection of lung cancer patients who could benefit from immunotherapy.
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- Journal Article
- A2
- open access
Flexible analysis of digital PCR experiments using generalized linear mixed models
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- Journal Article
- A1
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
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Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2
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Pathogenic mutations in FARS2 in a patient with motor regression and epilepsy as first signs, later evolving to spastic paraplegia associated with autonomic disturbances
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Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2
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- Journal Article
- A1
- open access
Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin
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- Journal Article
- A1
- open access
Identification of long non-coding RNAs involved in neuronal development and intellectual disability
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Detection of copy number aberrations in cell free DNA from plasma of neuroblastoma patients using shallow massive parallel sequencing
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The genomic region encompassing the overlapping SOX11 and Lnc-SOX11-1:1 loci exhibits a complex DNA copy number and mRNA expression pattern
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Identification of lncRNAs involved in neuronal differentiation and intellectual disability
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Elucidating the role of coding and noncoding genes in neuronal development using human embryonic stem cells and the CRISPR/Cas9 system
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Identification of long non-coding RNAs in neuronal development and intellectual disability
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Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape
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Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.
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- Journal Article
- A1
- open access
Phenotypic and molecular insights into CASK-related disorders in males
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Selection of lncRNAs involved in neuronal development and intellectual disability
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CRISPR/Cas9-mediated genome editing in primed versus naïve human embryonic stem cells
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Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
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- Journal Article
- A1
- open access
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
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Alternative routes to induce naive pluripotency in human embryonic stem cells
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Comparative analysis of different culture conditions inducing naive pluripotency in human embryonic stem cells
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Identification of lncRNAs involved in neuronal development and intellectual disability
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Selection of lncRNAs involved in neuronal development and intellectual disability
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Redefining the MED13L syndrome
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Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts
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- Journal Article
- A1
- open access
Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method
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- Journal Article
- A1
- open access
In vitro human embryonic stem cell hematopoiesis mimics MYB-independent yolk sac hematopoiesis
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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
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The H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
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Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3
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- Journal Article
- A1
- open access
Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development
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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
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- Journal Article
- A1
- open access
Genomic and functional overlap between somatic and germline chromosomal rearrangements
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In vitro human embryonic stem cell hematopoiesis mimics MYB independent yolk sac hematopoiesis
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- Journal Article
- A1
- open access
ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation
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Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2
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Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
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- Journal Article
- A2
- open access
A de novo POU3F3 deletion in a boy with intellectual disability and dysmorphic features
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3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
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Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain
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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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CMYB expression during human in vitro hematopoiesis
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
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- Journal Article
- A1
- open access
Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
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- Journal Article
- A1
- open access
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain
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- Journal Article
- A1
- open access
LNCipedia : a database for annotated human lncRNA transcript sequences and structures
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- Journal Article
- A1
- open access
Focal DNA copy number changes in neuroblastoma target MYCN regulated genes
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A link between host plant adaptation and pesticide resistance in the polyphagous spider mite Tetranychus urticae
(2013) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 110(2). p.E113-E122 -
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
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Large-scale and targeted genomic screen reveals focal lncRNA copy number alterations in cancer cells
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BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients
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Nasal speech in patients with 12q15 microdeletions
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Targeted expression of mutated ALK induces neuroblastoma in transgenic mice
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Array comparative genomic hybridization in male infertility
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- Journal Article
- A1
- open access
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms
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17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
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Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas
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Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes
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Isolation of disseminated neuroblastoma cells from bone marrow aspirates for pretreatment risk assessment by array comparative genomic hybridization
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Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain
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High-resolution breakpoint mapping of 10 regulatory and 32 FOXL2 encompassing deletions in BPES using targeted microarrays
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High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays
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High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays
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A visualization platform for interpretation of structural genomic data
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Complex genetics of radial ray deficiencies: screening of a cohort of 50 patients
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Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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Identification of a new rare recurrent 1q42.2-qter deletion in neuroblastoma
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions