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Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation

Pediatric blood & cancer, 2019-04, Vol.66 (4), p.e27589-n/a

2019

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Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations

European journal of human genetics : EJHG, 2022-04, Vol.30 (4), p.428-438

2022

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Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender

Journal of assisted reproduction and genetics, 2016-01, Vol.33 (1), p.49-57

2016

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Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

Human molecular genetics, 2014-08, Vol.23 (15), p.4015-4023

2014

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Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy

Frontiers in pediatrics, 2021-04, Vol.9, p.660076

2021

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The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-08, Vol.160C (3), p.217-229

2012

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Pränataldiagnostik – klassische Analytik mittels Chorionzottenbiopsie und Amniocentese

Medizinische Genetik, 2019, Vol.31 (3), p.289-296

2019

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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1739-1746

2017

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A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

Bone Reports, 2021-12, Vol.15, p.101110, Article 101110

2021

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Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

International journal of fertility & sterility, 2015-10, Vol.9 (3), p.346-353

2015

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Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3126-3131

2014

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Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature

Familial cancer, 2019-04, Vol.18 (2), p.253-260

2019

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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

American journal of human genetics, 2016-08, Vol.99 (2), p.392-406

2016

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Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes

Journal of cellular and molecular medicine, 2010-08, Vol.14 (8), p.2078-2084

2010

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Labelling of human adipose-derived stem cells for non-invasive in vivo cell tracking

Cell and tissue banking, 2007-09, Vol.8 (3), p.163-177

2007

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Combination of Cytology, Fluorescence In Situ Hybridization for Aneuploidy, and Reverse-Transcriptase Polymerase Chain Reaction for Human Mammaglobin/Mammaglobin B Expression Improves Diagnosis of Malignant Effusions

Journal of clinical oncology, 2004-02, Vol.22 (3), p.474-483

2004

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Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

Journal of clinical medicine, 2021-01, Vol.10 (3), p.481

2021

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Prenatal Genetic Testing for Dopa-Responsive Dystonia - Clinical Judgment in the Context of Next Generation Sequencing

Journal of medicine and life, 2018-10, Vol.11 (4), p.343-345

2018

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Evidence from a leukaemia model for maintenance of vascular endothelium by bone-marrow-derived endothelial cells

The Lancet (British edition), 2000-05, Vol.355 (9216), p.1688-1691

2000

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Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

International journal of molecular medicine, 2008-06, Vol.21 (6), p.705-712

2008

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Fluorescence in situ hybridization (FISH) on peripheral blood smears for monitoring Philadelphia chromosome-positive chronic myeloid leukemia (CML) during interferon treatment: A new strategy for remission assessment

Genes chromosomes & cancer, 1998-02, Vol.21 (2), p.90-100

1998

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Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism

European journal of medical genetics, 2013-07, Vol.56 (7), p.383-388

2013

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FISH cytogenetics and prognosis in breast and non–small cell lung cancers

Cytometry. Part B, Clinical cytometry, 2004-11, Vol.62B (1), p.52-56

2004

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Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

American journal of medical genetics. Part A, 2003-01, Vol.116A (3), p.290-294

2003

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Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations

Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

Pränataldiagnostik – klassische Analytik mittels Chorionzottenbiopsie und Amniocentese

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes

Labelling of human adipose-derived stem cells for non-invasive in vivo cell tracking

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

Combination of Cytology, Fluorescence In Situ Hybridization for Aneuploidy, and Reverse-Transcriptase Polymerase Chain Reaction for Human Mammaglobin/Mammaglobin B Expression Improves Diagnosis of Malignant Effusions

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

Prenatal Genetic Testing for Dopa-Responsive Dystonia - Clinical Judgment in the Context of Next Generation Sequencing

Evidence from a leukaemia model for maintenance of vascular endothelium by bone-marrow-derived endothelial cells

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

Fluorescence in situ hybridization (FISH) on peripheral blood smears for monitoring Philadelphia chromosome-positive chronic myeloid leukemia (CML) during interferon treatment: A new strategy for remission assessment

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism

FISH cytogenetics and prognosis in breast and non–small cell lung cancers

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

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