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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

The Lancet (British edition), 2012-11, Vol.380 (9854), p.1674-1682

2012

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New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

Human molecular genetics, 2017-08, Vol.26 (15), p.2923-2932

2017

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Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis

Human molecular genetics, 2020-03, Vol.29 (4), p.541-553

2020

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Diagnostic value of partial exome sequencing in developmental disorders

PloS one, 2018-08, Vol.13 (8), p.e0201041-e0201041

2018

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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Nature communications, 2018-10, Vol.9 (1), p.4250-17, Article 4250

2018

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Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

BMC cancer, 2019-04, Vol.19 (1), p.396-15, Article 396

2019

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Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

BMC cancer, 2022-06, Vol.22 (1), p.1-706, Article 706

2022

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Surface water in Lower Saxony: A reservoir for multidrug-resistant Enterobacterales

One health, 2023-12, Vol.17, p.100606-100606, Article 100606

2023

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Correction: Diagnostic value of partial exome sequencing in developmental disorders

PloS one, 2020-09, Vol.15 (9), p.e0239959-e0239959

2020

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Case Report: ANXA2 Associated Life-Threatening Coagulopathy With Hyperfibrinolysis in a Patient With Non-APL Acute Myeloid Leukemia

Frontiers in oncology, 2021-04, Vol.11, p.666014

2021

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Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

PLoS genetics, 2016-08, Vol.12 (8), p.e1006248-e1006248

2016

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Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

Cancers, 2019-06, Vol.11 (6), p.809

2019

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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2644-2651

2016

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Identification of a Set of Seven Genes for the Monitoring of Minimal Residual Disease in Pediatric Acute Myeloid Leukemia

Clinical cancer research, 2006-04, Vol.12 (8), p.2434-2441

2006

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Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Nature communications, 2018-11, Vol.9 (1), p.4930-1, Article 4930

2018

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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.94-102

2016

Volltextzugriff (PDF)

Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing

PloS one, 2013-09, Vol.8 (9), p.e76623

2013

Volltextzugriff (PDF)

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Nature genetics, 1997-05, Vol.16 (1), p.54-63

1997

Volltextzugriff (PDF)

Gene Structure and Regulation of the Murine Epithelial Calcium Channels ECaC1 and 2

Biochemical and biophysical research communications, 2001-12, Vol.289 (5), p.1287-1294

2001

Volltextzugriff (PDF)

Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers

Cancer discovery, 2021-11, Vol.11 (11), p.2780-2795

2021

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A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another

Breast cancer research and treatment, 2018, Vol.167 (1), p.305-307

2018

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Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Journal of clinical oncology, 2022-05, Vol.40 (14), p.1529-1541

2022

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Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas

Neuro-oncology (Charlottesville, Va.), 2017-04, Vol.19 (4), p.546-557

2017

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

American journal of human genetics, 2015-08, Vol.97 (2), p.343-352

2015

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis

Diagnostic value of partial exome sequencing in developmental disorders

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

Surface water in Lower Saxony: A reservoir for multidrug-resistant Enterobacterales

Correction: Diagnostic value of partial exome sequencing in developmental disorders

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

Case Report: ANXA2 Associated Life-Threatening Coagulopathy With Hyperfibrinolysis in a Patient With Non-APL Acute Myeloid Leukemia

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

Identification of a Set of Seven Genes for the Monitoring of Minimal Residual Disease in Pediatric Acute Myeloid Leukemia

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Gene Structure and Regulation of the Murine Epithelial Calcium Channels ECaC1 and 2

Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers

A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

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