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Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Human mutation, 2020-09, Vol.41 (9), p.1615-1628

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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Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins

Stem cell reports, 2020-03, Vol.14 (3), p.390-405

2020

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Genetik der angeborenen Herzfehler

Medizinische Genetik, 2017, Vol.29 (2), p.248-256

2017

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Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2736-2742

2017

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DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs

Clinical epigenetics, 2019-06, Vol.11 (1), p.89-89, Article 89

2019

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Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators

Cardiovascular research, 2024-02, Vol.119 (18), p.2902-2916

2024

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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Genetics in medicine, 2016-12, Vol.18 (12), p.1226-1234

2016

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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

American journal of human genetics, 2019-07, Vol.105 (1), p.213-220

2019

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Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

European journal of medical genetics, 2020-10, Vol.63 (10), p.104019-104019, Article 104019

2020

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Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH

Breast cancer research and treatment, 2016-10, Vol.159 (3), p.585-590

2016

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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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Novel truncating PPM1D mutation in a patient with intellectual disability

European journal of medical genetics, 2019-01, Vol.62 (1), p.70-72

2019

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Pierpont syndrome: report of a new patient

Clinical dysmorphology, 2017-10, Vol.26 (4), p.205

2017

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BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Breast cancer research : BCR, 2018-01, Vol.20 (1), p.7-7, Article 7

2018

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Abstract 1410: Pedigree analysis equally identifies cases of pancreatic cancer in families with BRCA1 and BRCA2 mutations

Cancer research (Chicago, Ill.), 2018-07, Vol.78 (13_Supplement), p.1410-1410

2018

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Genetik der angeborenen Herzfehler

Medizinische Genetik, 2017-06, Vol.29 (2), p.248-256

2017

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Abstract 14680: Using Human Induced Pluripotent Stem Cell Derived Cardiomyocytes to Model Prdm16 Related Cardiomyopathy

Circulation (New York, N.Y.), 2018-11, Vol.138 (Suppl_1 Suppl 1), p.A14680-A14680

2018

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Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Diagnostic value of partial exome sequencing in developmental disorders

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins

Genetik der angeborenen Herzfehler

Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies

DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH

Correction: Diagnostic value of partial exome sequencing in developmental disorders

Novel truncating PPM1D mutation in a patient with intellectual disability

Pierpont syndrome: report of a new patient

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Abstract 1410: Pedigree analysis equally identifies cases of pancreatic cancer in families with BRCA1 and BRCA2 mutations

Genetik der angeborenen Herzfehler

Abstract 14680: Using Human Induced Pluripotent Stem Cell Derived Cardiomyocytes to Model Prdm16 Related Cardiomyopathy

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