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Chromosome 8q24 amplification associated with human hepatocellular carcinoma predicts MYC/ZEB1/MIZ1 transcriptional regulation

Scientific reports, 2024-10, Vol.14 (1), p.24488-18, Article 24488

2024

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High prevalence of chromosome 17 in breast cancer micronuclei: a means to get rid of tumor suppressors?

Human cell : official journal of Human Cell Research Society, 2024-10, Vol.38 (1), p.5, Article 5

2024

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A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer

Nature communications, 2024-11, Vol.15 (1), p.9587-21, Article 9587

2024

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Partial correlation network analysis identifies coordinated gene expression within a regional cluster of COPD genome-wide association signals

PLoS computational biology, 2024-10, Vol.20 (10), p.e1011079

2024

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Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound

Taiwanese journal of obstetrics & gynecology, 2024-11, Vol.63 (6), p.922

2024

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A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family

Scientific reports, 2024-10, Vol.14 (1), p.25291-9, Article 25291

2024

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Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

Clinical epigenetics, 2024-10, Vol.16 (1), p.148-13, Article 148

2024

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First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat

Taiwanese journal of obstetrics & gynecology, 2024-11, Vol.63 (6), p.909

2024

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Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line

Taiwanese journal of obstetrics & gynecology, 2024-11, Vol.63 (6), p.931

2024

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Prenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review

Taiwanese journal of obstetrics & gynecology, 2024-11, Vol.63 (6), p.948

2024

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Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13) and maternal intrachromosomal insertion of ins(11)(q21p11.2p13)

Taiwanese journal of obstetrics & gynecology, 2024-11, Vol.63 (6), p.913

2024

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Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome

Taiwanese journal of obstetrics & gynecology, 2024-11, Vol.63 (6), p.918

2024

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Reconciling theories of dominance with the relative rates of adaptive substitution on sex chromosomes and autosomes

Proceedings of the National Academy of Sciences - PNAS, 2024-10, Vol.121 (44), p.e2406335121

2024

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Population variability in X-chromosome inactivation across 10 mammalian species

Nature communications, 2024-10, Vol.15 (1), p.8991-12, Article 8991

2024

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Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells

BMC genomics, 2024-10, Vol.25 (1), p.980-12, Article 980

2024

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Sex as a biological variable in ageing: insights and perspectives on the molecular and cellular hallmarks

Open biology, 2024-10, Vol.14 (10), p.240177

2024

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The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.439, Article 439

2024

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Non-Invasive Prenatal Screening from a Genetic Counseling Prospective: Pre and Post-Genetic Counseling Regarding Rare Chromosomal Abnormalities and Incidental Finding

Genes, 2024-10, Vol.15 (10), p.1349

2024

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Unveiling genetic anchors in saccharomyces cerevisiae: QTL mapping identifies IRA2 as a key player in ethanol tolerance and beyond

Molecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.103, Article 103

2024

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Multifaceted role of CTCF in X-chromosome inactivation

Chromosoma, 2024-10, Vol.133 (4), p.217-231

2024

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Neurodevelopmental Disorder Caused by Deletion of CHASERR , a lncRNA Gene

The New England journal of medicine, 2024-10, Vol.391 (16), p.1511-1518

2024

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MLL oncoprotein levels influence leukemia lineage identities

Nature communications, 2024-10, Vol.15 (1), p.9341-13, Article 9341

2024

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Regulation of minimal spindle midzone organization by mitotic kinases

Nature communications, 2024-10, Vol.15 (1), p.9213-17, Article 9213

2024

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Comparative Analysis of Fluorescence In Situ Hybridization and Next-Generation Sequencing in Sperm Evaluation: Implications for Preimplantation Genetic Testing and Male Infertility

International journal of molecular sciences, 2024-10, Vol.25 (20), p.11296

2024

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Kinetochores grip microtubules with directionally asymmetric strength

The Journal of cell biology, 2025-01, Vol.224 (1)

2025

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Chromosome 8q24 amplification associated with human hepatocellular carcinoma predicts MYC/ZEB1/MIZ1 transcriptional regulation

High prevalence of chromosome 17 in breast cancer micronuclei: a means to get rid of tumor suppressors?

A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer

Partial correlation network analysis identifies coordinated gene expression within a regional cluster of COPD genome-wide association signals

Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound

A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat

Prenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review

Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13) and maternal intrachromosomal insertion of ins(11)(q21p11.2p13)

Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome

Reconciling theories of dominance with the relative rates of adaptive substitution on sex chromosomes and autosomes

Population variability in X-chromosome inactivation across 10 mammalian species

Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells

Sex as a biological variable in ageing: insights and perspectives on the molecular and cellular hallmarks

The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility

Non-Invasive Prenatal Screening from a Genetic Counseling Prospective: Pre and Post-Genetic Counseling Regarding Rare Chromosomal Abnormalities and Incidental Finding

Unveiling genetic anchors in saccharomyces cerevisiae: QTL mapping identifies IRA2 as a key player in ethanol tolerance and beyond

Multifaceted role of CTCF in X-chromosome inactivation

Neurodevelopmental Disorder Caused by Deletion of CHASERR , a lncRNA Gene

MLL oncoprotein levels influence leukemia lineage identities

Regulation of minimal spindle midzone organization by mitotic kinases

Comparative Analysis of Fluorescence In Situ Hybridization and Next-Generation Sequencing in Sperm Evaluation: Implications for Preimplantation Genetic Testing and Male Infertility

Kinetochores grip microtubules with directionally asymmetric strength

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