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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Genome medicine, 2019-11, Vol.11 (1), p.68-68, Article 68

2019

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Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e666-n/a

2019

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A deep learning–based algorithm for tall cell detection in papillary thyroid carcinoma

PloS one, 2022-08, Vol.17 (8), p.e0272696-e0272696

2022

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Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

Human genome variation, 2018-01, Vol.5 (1), p.18009-18009, Article 18009

2018

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Mutational study of the MAMLD1 -gene in hypospadias

European journal of medical genetics, 2010-05, Vol.53 (3), p.122-126

2010

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Tissue specific trisomy 15 mosaicism associated with urogenital malformations

European journal of medical genetics, 2023-10, Vol.66 (10), p.104824-104824, Article 104824

2023

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Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.378-390

2023

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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.946-951

2017

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WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish

Human molecular genetics, 2015-09, Vol.24 (18), p.5069-5078

2015

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NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion

Clinical immunology (Orlando, Fla.), 2017-03, Vol.176, p.71-76

2017

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Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis

Mutation research, 2018-11, Vol.812, p.1-4

2018

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Two novel colorectal cancer risk loci in the region on chromosome 9q22.32

Oncotarget, 2018-02, Vol.9 (13), p.11170-11179

2018

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Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.425-431

2014

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Study on genetic stability in human urothelial cells in vitro

Journal of tissue engineering and regenerative medicine, 2018-02, Vol.12 (2), p.e720-e726

2018

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Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

Molecular genetics & genomic medicine, 2019-03, Vol.7 (3), p.e549-n/a

2019

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From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

MOLECULAR CYTOGENETICS, 2019, Vol.12

2019

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Molecular and clinical delineation of the 17q22 microdeletion phenotype

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1085-1092

2013

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A case with bladder exstrophy and unbalanced X chromosome rearrangement

European journal of pediatric surgery, 2014-08, Vol.24 (4), p.353

2014

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Chimerism resulting from parthenogenetic activation and dispermic fertilization

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2277-2286

2010

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Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1111-1117

2012

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22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

European journal of medical genetics, 2010-03, Vol.53 (2), p.61-65

2010

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22q11.2 Microduplication in Two Patients with Bladder Exstrophy and Hearing Impairment

Journal of pediatric urology, 2010, Vol.6, p.S20-S21

2010

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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

A deep learning–based algorithm for tall cell detection in papillary thyroid carcinoma

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

Mutational study of the MAMLD1 -gene in hypospadias

Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non homologous repair or template switching

Tissue specific trisomy 15 mosaicism associated with urogenital malformations

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish

NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype

Study on genetic stability in human urothelial cells in vitro

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

Molecular and clinical delineation of the 17q22 microdeletion phenotype

A case with bladder exstrophy and unbalanced X chromosome rearrangement

Chimerism resulting from parthenogenetic activation and dispermic fertilization

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

22q11.2 Microduplication in Two Patients with Bladder Exstrophy and Hearing Impairment

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