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A 10-cM YAC contig spanning GLC1A, the primary open-angle glaucoma locus at 1q23-q25

European journal of human genetics : EJHG, 1996, Vol.4 (5), p.250-259

1996

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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Nature genetics, 2011-01, Vol.43 (1), p.20-22

2011

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Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

Human molecular genetics, 2004-12, Vol.13 (24), p.3069-3077

2004

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Nature (London), 1995-07, Vol.376 (6538), p.348-351

1995

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In vitro 3D phenotypic drug screen identifies celastrol as an effective in vivo inhibitor of polycystic kidney disease

Journal of molecular cell biology, 2020-08, Vol.12 (8), p.644-653

2020

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Mutations in ABCC6 cause pseudoxanthoma elasticum

Nature genetics, 2000-06, Vol.25 (2), p.228-231

2000

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Journal of medical genetics, 2000-03, Vol.37 (3), p.168-176

2000

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A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

Human molecular genetics, 2008-12, Vol.17 (24), p.3847-3853

2008

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Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing

Human mutation, 2017-07, Vol.38 (7), p.870-879

2017

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High-Throughput Phenotypic Screening of Kinase Inhibitors to Identify Drug Targets for Polycystic Kidney Disease

SLAS discovery, 2017-09, Vol.22 (8), p.974-984

2017

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Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers

Nature genetics, 2002-07, Vol.31 (3), p.295-300

2002

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Genomic imbalances in mental retardation

Journal of medical genetics, 2004-04, Vol.41 (4), p.249-255

2004

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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Nature genetics, 1992-09, Vol.2 (1), p.26-30

1992

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Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

European journal of human genetics : EJHG, 1999-12, Vol.7 (8), p.860-872

1999

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The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

Nature genetics, 1992-06, Vol.1 (3), p.166-170

1992

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Identification and characterization of the tuberous sclerosis gene on chromosome 16

Cell, 1993-12, Vol.75 (7), p.1305-1315

The European Chromosome 16 Tuberous Sclerosis Consortium

1993

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Is the approach of delirium in Dutch nursing-homes in accordance with the national guideline?

Tijdschrift voor gerontologie en geriatrie, 2019-09, Vol.50 (2)

2019

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An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16

Fertility and sterility, 2006-08, Vol.86 (2), p.463.e1-463.e5

2006

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Inter-and Intrachromosomal Sub-Telomeric Rearrangements on 4q35: Implications for Facioscapulohumeral Muscular Dystrophy (FSHD) Aetiology and Diagnosis

Human molecular genetics, 1998-08, Vol.7 (8), p.1207-1214

1998

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Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35

Human molecular genetics, 1996-05, Vol.5 (5), p.581-590

1996

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Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)

Leukemia, 1997-12, Vol.11 (12), p.2087-2096

1997

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Construction of a 1.2-Mb Contig Surrounding, and Molecular Analysis of, the Human CREB-Binding Protein (CBP/CREBBP) Gene on Chromosome 16p13.3

Genomics (San Diego, Calif.), 1997-05, Vol.42 (1), p.96-114

1997

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Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome

Journal of medical genetics, 2002-02, Vol.39 (2), p.136-141

2002

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Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect

Journal of medical genetics, 2002-09, Vol.39 (9), p.686-688

2002

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Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

European journal of medical genetics, 2011-07, Vol.54 (4), p.e409-e412

2011

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A 10-cM YAC contig spanning GLC1A, the primary open-angle glaucoma locus at 1q23-q25

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

In vitro 3D phenotypic drug screen identifies celastrol as an effective in vivo inhibitor of polycystic kidney disease

Mutations in ABCC6 cause pseudoxanthoma elasticum

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing

High-Throughput Phenotypic Screening of Kinase Inhibitors to Identify Drug Targets for Polycystic Kidney Disease

Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers

Genomic imbalances in mental retardation

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

Identification and characterization of the tuberous sclerosis gene on chromosome 16

Is the approach of delirium in Dutch nursing-homes in accordance with the national guideline?

An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16

Inter-and Intrachromosomal Sub-Telomeric Rearrangements on 4q35: Implications for Facioscapulohumeral Muscular Dystrophy (FSHD) Aetiology and Diagnosis

Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35

Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)

Construction of a 1.2-Mb Contig Surrounding, and Molecular Analysis of, the Human CREB-Binding Protein (CBP/CREBBP) Gene on Chromosome 16p13.3

Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome

Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

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