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Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

Human mutation, 2013-12, Vol.34 (12), p.1589-1596

2013

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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Molecular cell, 2015-09, Vol.59 (6), p.956-969

2015

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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Human molecular genetics, 2010-04, Vol.19 (7), p.1263-1275

2010

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On the Molecular Etiology of Cornelia de Lange Syndrome

Annals of the New York Academy of Sciences, 2009-01, Vol.1151 (1), p.22-37

2009

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Transcriptional dysregulation in NIPBL and cohesin mutant human cells

PLoS biology, 2009-05, Vol.7 (5), p.e1000119-e1000119

2009

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A cohesin-independent role for NIPBL at promoters provides insights in CdLS

PLoS genetics, 2014-02, Vol.10 (2), p.e1004153-e1004153

2014

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RAD21 Mutations Cause a Human Cohesinopathy

American journal of human genetics, 2012-06, Vol.90 (6), p.1014-1027

2012

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Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Nature genetics, 2015-04, Vol.47 (4), p.338-344

2015

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Cohesin and human disease

Annual review of genomics and human genetics, 2008-01, Vol.9 (1), p.303-320

2008

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Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin

Nature communications, 2021-05, Vol.12 (1), p.2919-2919, Article 2919

2021

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NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR

Cell reports (Cambridge), 2016-01, Vol.14 (1), p.93-102

2016

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Improved management through a better understanding of mortality risk and causes in inborn errors of metabolism

The Journal of pediatrics, 2023-01, Vol.252, p.2-2

Krantz, Ian D.

2023

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Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

American journal of human genetics, 2010-05, Vol.86 (5), p.730-742

2010

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Defining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline

Cell reports (Cambridge), 2024-06, Vol.43 (6), p.114323, Article 114323

2024

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AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

Genetics in medicine, 2018-12, Vol.20 (12), p.1600-1608

2018

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EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2926-2938

2020

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Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases

American journal of medical genetics. Part A, 2012-12, Vol.158A (12), p.3002-3017

2012

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Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior

PLoS genetics, 2015-11, Vol.11 (11), p.e1005655-e1005655

2015

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Mutations in the chromatin-associated protein ATRX

Human mutation, 2008-06, Vol.29 (6), p.796-802

2008

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Clinical and molecular spectrum of CHOPS syndrome

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1126-1138

2019

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Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.612-620

2019

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Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome

PloS one, 2014-10, Vol.9 (10), p.e108853-e108853

2014

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Cardiac manifestations of Pallister-Killian syndrome

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1130-1135

2014

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Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1641-1653

2010

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Disease-associated c-MYC downregulation in human disorders of transcriptional regulation

Human molecular genetics, 2022-05, Vol.31 (10), p.1599-1609

2022

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Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

On the Molecular Etiology of Cornelia de Lange Syndrome

Transcriptional dysregulation in NIPBL and cohesin mutant human cells

A cohesin-independent role for NIPBL at promoters provides insights in CdLS

RAD21 Mutations Cause a Human Cohesinopathy

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Cohesin and human disease

Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR

Improved management through a better understanding of mortality risk and causes in inborn errors of metabolism

Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

Defining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients

Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases

Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior

Mutations in the chromatin-associated protein ATRX

Clinical and molecular spectrum of CHOPS syndrome

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome

Cardiac manifestations of Pallister-Killian syndrome

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

Disease-associated c-MYC downregulation in human disorders of transcriptional regulation

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