Rachel Schot

Erasmus University Medical Center

Netherlands

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Articles (10)

Year:

2023

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2023

Year:

2023

Year:

2023

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2023

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2022

Year:

2021

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2021

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2021

Year:

2020

Collaborators (15)

Richard H. van Jaarsveld

NETHERLANDS

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Jeroen Demmers

Associate Professor | Director of the Proteomics Core Facility

Erasmus MC

NETHERLANDS

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Hidde Huidekoper

Erasmus University Rotterdam

NETHERLANDS

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Geert Geeven

Head of Bioinformatics Group

Erasmus MC

NETHERLANDS

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Seth Berger

Assistant Professor

Children's National Health System

UNITED STATES

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Grazia M S Mancini

NETHERLANDS

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Leif Neitzel

Assistant Professor of Research

Michigan State University

UNITED STATES

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Micheil Innes

Associate Professor

University of Calgary

CANADA

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Tjakko J. van Ham

NETHERLANDS

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Leontine van Unen

Erasmus University Rotterdam

NETHERLANDS

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Jordy Dekker

Erasmus University Rotterdam

NETHERLANDS

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Virginie Verhoeven

Erasmus University Rotterdam

NETHERLANDS

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Maarten Fornerod

Associate professor

Erasmus MC

NETHERLANDS

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Peter van der Spek

Erasmus University Rotterdam

NETHERLANDS

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Johan A. Slotman

Erasmus University Rotterdam

NETHERLANDS

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Rachel Schot

Research Interests

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Articles (10)

Web-accessible application for identifying pathogenic transcripts with RNA-seq

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist

A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.

Biallelic <i>DAB1</i> Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Collaborators (15)

Richard H. van Jaarsveld

Jeroen Demmers

Hidde Huidekoper

Geert Geeven

Seth Berger

Grazia M S Mancini

Leif Neitzel

Micheil Innes

Tjakko J. van Ham

Leontine van Unen

Jordy Dekker

Virginie Verhoeven

Maarten Fornerod

Peter van der Spek

Johan A. Slotman

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