Kornelia Neveling

Radboud University Medical Center

Netherlands

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Articles (10)

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Collaborators (7)

Tuomo Mantere

University of Oulu

FINLAND

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Erwin van Wijk

Radboud University Medical Center

NETHERLANDS

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Erik de Vrieze

Assistant Professor

Radboud Universitair Medisch Centrum

NETHERLANDS

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Jane Farrar

Head of School

Trinity College Dublin

IRELAND

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Catherina Li

Radboud University Medical Center

NETHERLANDS

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Adam Smith

Assistant Professor

University of Toronto

CANADA

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Elisabeth Graf

Klinikum rechts der Isar der Technischen Universität München

GERMANY

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Kornelia Neveling

Research Interests

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Contact this professor

Articles (10)

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

Precision oncology using organoids of a secretory carcinoma of the salivary gland treated with TRK-inhibitors

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

Optical genome mapping for structural variation analysis in hematologic malignancies

Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.

Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome.

Collaborators (7)

Tuomo Mantere

Erwin van Wijk

Erik de Vrieze

Jane Farrar

Catherina Li

Adam Smith

Elisabeth Graf

Make your next move.

Kornelia Neveling

Research Interests

Explore related searches

Contact this professor

Articles (10)

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

Precision oncology using organoids of a secretory carcinoma of the salivary gland treated with TRK-inhibitors

Scrutinizing pathogenicity of the USH2A c.2276 G &gt; T; p.(Cys759Phe) variant

Optical genome mapping for structural variation analysis in hematologic malignancies

Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.

Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome.

Collaborators (7)

Tuomo Mantere

Erwin van Wijk

Erik de Vrieze

Jane Farrar

Catherina Li

Adam Smith

Elisabeth Graf

Make your next move.

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant