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Publications by Peter Nürnberg

Delineating the GRIN1 Phenotypic Spectrum

Neurology

2016

English

Germline Loss-Of-Function Variants in the BARD1 Gene Are Associated With Early-Onset Familial Breast Cancer but Not Ovarian Cancer

Breast Cancer Research

Cancer Research

Oncology

2019

English

A Rare Heterozygous TREM2 Coding Variant Identified in Familial Clustering of Dementia Affects an Intrinsically Disordered Protein Region and Function of TREM2

Human Mutation

Genetics

2019

English

Preclinical Studies Reveal That LSD1 Inhibition Results in Tumor Growth Arrest in Lung Adenocarcinoma Independently of Driver Mutations

English

Transcription Factor Activating Protein 2 Beta (TFAP2B) Mediates Noradrenergic Neuronal Differentiation in Neuroblastoma

English

Securing the Use of Existing Sample Collections for Future Human Genetic Research

European Journal of Human Genetics

Genetics

2017

English

Late Diagnosis of a Truncating WISP3 Mutation Results in a Severe Phenotype of Progressive Pseudorheumatoid Dysplasia.

Cold Spring Harbor molecular case studies

English

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

PLoS ONE

Multidisciplinary

2016

English

Association of a Synonymous SCN1B Variant Affecting Splicing Efficiency With Benign Familial Infantile Epilepsy (BFIE)

European Journal of Paediatric Neurology

English

Frank-Ter Haar Syndrome Associated With Sagittal Craniosynostosis and Raised Intracranial Pressure

BMC Medical Genetics

Genetics

2012

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Peter Nürnberg

Delineating the GRIN1 Phenotypic Spectrum

Germline Loss-Of-Function Variants in the BARD1 Gene Are Associated With Early-Onset Familial Breast Cancer but Not Ovarian Cancer

A Rare Heterozygous TREM2 Coding Variant Identified in Familial Clustering of Dementia Affects an Intrinsically Disordered Protein Region and Function of TREM2

Preclinical Studies Reveal That LSD1 Inhibition Results in Tumor Growth Arrest in Lung Adenocarcinoma Independently of Driver Mutations

Transcription Factor Activating Protein 2 Beta (TFAP2B) Mediates Noradrenergic Neuronal Differentiation in Neuroblastoma

Securing the Use of Existing Sample Collections for Future Human Genetic Research

Late Diagnosis of a Truncating WISP3 Mutation Results in a Severe Phenotype of Progressive Pseudorheumatoid Dysplasia.

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Association of a Synonymous SCN1B Variant Affecting Splicing Efficiency With Benign Familial Infantile Epilepsy (BFIE)

Frank-Ter Haar Syndrome Associated With Sagittal Craniosynostosis and Raised Intracranial Pressure